annotate test-data/parkinson-search-term.json @ 5:6eaaeedf2f37 draft default tip

planemo upload commit 469f80a2162a7284b6299615caf6aee64bb34167

{"highlighting": {"MESH:D020149": {"definition_eng": [" syndrome (<em class=\"hilite\">PARKINSON</em> DISEASE, SECONDARY) that includes rigidity; DYSTONIA; retropulsion; and TREMOR. (Adams"], "definition_std": [" syndrome (<em class=\"hilite\">PARKINSON</em> DISEASE, SECONDARY) that includes rigidity; DYSTONIA; retropulsion; and TREMOR. (Adams"]}, "MESH:C565324": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 4, Autosomal Dominant Lewy Body"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 4, Autosomal Dominant Lewy Body"]}, "OMIM:168100": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease, Juvenile, of Hunt", "<em class=\"hilite\">Parkinson</em> Disease, Juvenile, Of Hunt"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease, Juvenile, of Hunt", "<em class=\"hilite\">Parkinson</em> Disease, Juvenile, Of Hunt"]}, "Orphanet:261295": {"definition_eng": ["20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-<em class=\"hilite\">Parkinson</em>"], "definition_std": ["20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-<em class=\"hilite\">Parkinson</em>"]}, "NCBIGene:101082778": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"]}, "OMIM:300911": {"synonym_eng": ["<em class=\"hilite\">PARKINSONISM</em> WITH SPASTICITY, X-LINKED; XPDS"], "label_eng": ["X-linked <em class=\"hilite\">parkinsonism</em>-spasticity syndrome", "<em class=\"hilite\">Parkinsonism</em> With Spasticity, X-Linked", "<em class=\"hilite\">Parkinsonism</em> with spasticity, X-linked"]}, "GeneReviews:NBK26472": {"label_std": ["PINK1 Type of Young-Onset <em class=\"hilite\">Parkinson</em> Disease "], "definition_eng": ["The PINK1 type of young-onset <em class=\"hilite\">Parkinson</em> disease is characterized by variable combinations", " <em class=\"hilite\">Parkinson</em> disease. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK26472]"], "label_eng": ["PINK1 Type of Young-Onset <em class=\"hilite\">Parkinson</em> Disease "], "definition_std": ["The PINK1 type of young-onset <em class=\"hilite\">Parkinson</em> disease is characterized by variable combinations of", " <em class=\"hilite\">Parkinson</em> disease. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK26472]"]}, "OMIM:606852": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease, Age at Onset of", "<em class=\"hilite\">PARKINSON</em> DISEASE 10; PARK10", "<em class=\"hilite\">Parkinson</em> Disease type 10", "<em class=\"hilite\">Parkinson</em> Disease, Age At Onset Of"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease, Age at Onset of", "<em class=\"hilite\">PARKINSON</em> DISEASE 10; PARK10", "<em class=\"hilite\">Parkinson</em> Disease type 10", "<em class=\"hilite\">Parkinson</em> Disease, Age At Onset Of"]}, "GeneReviews:NBK1196": {"definition_eng": [" by progressive cerebellar ataxia and variable findings including a dystonic-rigid syndrome, a <em class=\"hilite\">parkinsonian</em>"]}, "OMIM:614203": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 17", "<em class=\"hilite\">Parkinson</em> disease 17"], "synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease type 17", "autosomal dominant <em class=\"hilite\">Parkinson</em> disease 17", "<em class=\"hilite\">Parkinson</em> disease type 17", "<em class=\"hilite\">PARKINSON</em> DISEASE 17; PARK17"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease type 17", "autosomal dominant <em class=\"hilite\">Parkinson</em> disease 17", "<em class=\"hilite\">Parkinson</em> disease type 17", "<em class=\"hilite\">PARKINSON</em> DISEASE 17; PARK17"], "definition_eng": ["A late-onset <em class=\"hilite\">Parkinson</em> disease that has_material_basis_in heterozygous mutation in the VPS35 gene", "<em class=\"hilite\">Parkinson</em> disease-17 is an autosomal dominant, adult-onset form of the disorder", ". It is phenotypically similar to idiopathic <em class=\"hilite\">Parkinson</em> disease (summary by {7:Wider et al., 2008}).\n\nFor a general", " phenotypic description and a discussion of genetic heterogeneity of <em class=\"hilite\">Parkinson</em> disease (PD), see OMIM:168600."], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 17", "<em class=\"hilite\">Parkinson</em> disease 17"], "definition_std": ["A late-onset <em class=\"hilite\">Parkinson</em> disease that has_material_basis_in heterozygous mutation in the VPS35 gene", "<em class=\"hilite\">Parkinson</em> disease-17 is an autosomal dominant, adult-onset form of the disorder. It is", " phenotypically similar to idiopathic <em class=\"hilite\">Parkinson</em> disease (summary by {7:Wider et al., 2008}).\n\nFor a general", " phenotypic description and a discussion of genetic heterogeneity of <em class=\"hilite\">Parkinson</em> disease (PD), see OMIM:168600."]}, "NCBIGene:612316": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"]}, "MESH:D020961": {"definition_eng": ["A neurodegenerative disease characterized by dementia, mild <em class=\"hilite\">parkinsonism</em>, and fluctuations"]}, "OMIM:617225": {"definition_eng": [" earlier onset and prominent <em class=\"hilite\">parkinsonism</em>. Loss of ATP13A2 function results in a multidimensional spectrum"]}, "NCBIGene:100559435": {"synonym_eng": ["<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"], "synonym_std": ["<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"]}, "DOID:14332": {"label_std": ["postencephalitic <em class=\"hilite\">Parkinson</em> disease"], "synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease, Post Encephalitic", "Postencephalitic Economo-Type <em class=\"hilite\">Parkinsonism</em>", "<em class=\"hilite\">Parkinson</em> Disease, Post-Encephalitic", "<em class=\"hilite\">Parkinsonisms</em>, Viral Meningoencephalitic", "<em class=\"hilite\">Parkinsonism</em>, Postencephalitic Economo-Type", "Economo-Type <em class=\"hilite\">Parkinsonism</em>, Postencephalitic", "Postencephalitic <em class=\"hilite\">Parkinson</em> Disease", "von Economo Encephalitis Type <em class=\"hilite\">Parkinsonism</em>", "<em class=\"hilite\">Parkinsonism</em>, Viral Meningoencephalitic", "Postencephalitic <em class=\"hilite\">Parkinsonism</em>", "Post-Encephalitic <em class=\"hilite\">Parkinson</em> Disease", "Post Encephalitic <em class=\"hilite\">Parkinson</em> Disease", "Meningoencephalitic <em class=\"hilite\">Parkinsonism</em>, Viral", "Postencephalitic Economo Type <em class=\"hilite\">Parkinsonism</em>", "Postencephalitic <em class=\"hilite\">parkinsonism</em>", "Postencephalitic <em class=\"hilite\">parkinsonism</em> (disorder)", "Postencephalitis <em class=\"hilite\">Parkinsonian</em> Syndrome", "<em class=\"hilite\">Parkinsonism</em>, Postencephalitic", "<em class=\"hilite\">Parkinsonian</em> Syndrome, Postencephalitis", "Viral Meningoencephalitic <em class=\"hilite\">Parkinsonism</em>", "Encephalitis Lethargica Type <em class=\"hilite\">Parkinsonism</em>"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease, Post Encephalitic", "<em class=\"hilite\">Parkinson</em> Disease, Post-Encephalitic", "Postencephalitic <em class=\"hilite\">Parkinson</em> Disease", "Post-Encephalitic <em class=\"hilite\">Parkinson</em> Disease", "Post Encephalitic <em class=\"hilite\">Parkinson</em> Disease"], "definition_eng": ["<em class=\"hilite\">Parkinsonism</em> following encephalitis, historically seen as a sequella of encephalitis lethargica", " primary <em class=\"hilite\">PARKINSON</em> DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the"], "label_eng": ["postencephalitic <em class=\"hilite\">Parkinson</em> disease"], "definition_std": [" primary <em class=\"hilite\">PARKINSON</em> DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the"]}, "OMIM:260540": {"label_std": ["<em class=\"hilite\">Parkinson</em>-Dementia Syndrome"], "synonym_eng": ["PSP-<em class=\"hilite\">parkinsonism</em>", "<em class=\"hilite\">PARKINSON</em>-DEMENTIA SYNDROME"], "definition_eng": ["PSP-<em class=\"hilite\">parkinsonism</em> (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this"], "label_eng": ["<em class=\"hilite\">Parkinson</em>-Dementia Syndrome", "Progressive supranuclear palsy-<em class=\"hilite\">parkinsonism</em> syndrome"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em>-DEMENTIA SYNDROME"]}, "OMIA:001194": {"label_std": ["Wolff-<em class=\"hilite\">Parkinson</em>-White syndrome", "Wolff-<em class=\"hilite\">Parkinson</em>-White syndrome (in other animals)"], "label_eng": ["Wolff-<em class=\"hilite\">Parkinson</em>-White syndrome", "Wolff-<em class=\"hilite\">Parkinson</em>-White syndrome (in other animals)"]}, "OMIM:616361": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 21"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE 21; PARK21", "<em class=\"hilite\">Parkinson</em> Disease type 21"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE 21; PARK21", "<em class=\"hilite\">Parkinson</em> Disease type 21"], "definition_eng": ["<em class=\"hilite\">Parkinson</em> disease-21 is an autosomal dominant form of typical adult-onset <em class=\"hilite\">Parkinson</em> disease", " heterogeneity of <em class=\"hilite\">Parkinson</em> disease, see PD (OMIM:168600)."], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 21"], "definition_std": ["<em class=\"hilite\">Parkinson</em> disease-21 is an autosomal dominant form of typical adult-onset <em class=\"hilite\">Parkinson</em> disease", " heterogeneity of <em class=\"hilite\">Parkinson</em> disease, see PD (OMIM:168600)."]}, "NCBIGene:100083988": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"]}, "NCBIGene:733673": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"]}, "OMIM:607060": {"label_std": ["autosomal dominant <em class=\"hilite\">Parkinson</em> disease 8", "<em class=\"hilite\">Parkinson</em> Disease 8, Autosomal Dominant", "<em class=\"hilite\">Parkinson</em> disease 8, autosomal dominant"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE 8, AUTOSOMAL DOMINANT; PARK8", "autosomal dominant <em class=\"hilite\">Parkinson</em> disease type 8"], "definition_eng": ["A <em class=\"hilite\">Parkinson's</em> disease that has_material_basis_in heterozygous mutation in the dardarin encoding"], "label_eng": ["autosomal dominant <em class=\"hilite\">Parkinson</em> disease 8", "<em class=\"hilite\">Parkinson</em> Disease 8, Autosomal Dominant", "<em class=\"hilite\">Parkinson</em> disease 8, autosomal dominant"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE 8, AUTOSOMAL DOMINANT; PARK8", "autosomal dominant <em class=\"hilite\">Parkinson</em> disease type 8"]}, "OMIM:168600": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease, Late-Onset", "<em class=\"hilite\">Parkinson</em> disease, late-onset"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE, LATE-ONSET; PD"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE, LATE-ONSET; PD"], "definition_eng": ["<em class=\"hilite\">Parkinson</em> disease was first described by James <em class=\"hilite\">Parkinson</em> in 1817. It is the second most common", ")} reviewed the genetic and environmental causes of <em class=\"hilite\">Parkinson</em> disease. {30:Feany (2004)} reviewed the genetics", " of <em class=\"hilite\">Parkinson</em> disease and provided a speculative model of interactions among proteins implicated in PD. {59:Lees", " et al. (2009)} provided a review of <em class=\"hilite\">Parkinson</em> disease, with emphasis on diagnosis, neuropathology, and", " treatment.\n\n<Subhead> Genetic Heterogeneity of <em class=\"hilite\">Parkinson</em> Disease\n\nSeveral loci for autosomal dominant", " <em class=\"hilite\">Parkinson</em> disease have been identified, including PARK1 (OMIM:168601) and PARK4, caused by mutation", " <em class=\"hilite\">Parkinson</em> disease have been identified: PARK2 (OMIM:600116), caused by mutation in the gene encoding parkin", " to <em class=\"hilite\">Parkinson</em> disease (see OMIM:556500). Susceptibility to the development of the more common late-onset form", " of <em class=\"hilite\">Parkinson</em> disease has been associated with polymorphisms or mutations in several genes, including GBA (OMIM"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease, Late-Onset", "<em class=\"hilite\">Parkinson</em> disease, late-onset"], "definition_std": ["<em class=\"hilite\">Parkinson</em> disease was first described by James <em class=\"hilite\">Parkinson</em> in 1817. It is the second most common", ")} reviewed the genetic and environmental causes of <em class=\"hilite\">Parkinson</em> disease. {30:Feany (2004)} reviewed the genetics", " of <em class=\"hilite\">Parkinson</em> disease and provided a speculative model of interactions among proteins implicated in PD", ". {59:Lees et al. (2009)} provided a review of <em class=\"hilite\">Parkinson</em> disease, with emphasis on diagnosis", ", neuropathology, and treatment.\n\n<Subhead> Genetic Heterogeneity of <em class=\"hilite\">Parkinson</em> Disease\n\nSeveral loci for autosomal", " dominant <em class=\"hilite\">Parkinson</em> disease have been identified, including PARK1 (OMIM:168601) and PARK4, caused by", " recessive early-onset <em class=\"hilite\">Parkinson</em> disease have been identified: PARK2 (OMIM:600116), caused by mutation in the", " cause or contribute to <em class=\"hilite\">Parkinson</em> disease (see OMIM:556500). Susceptibility to the development of the", " more common late-onset form of <em class=\"hilite\">Parkinson</em> disease has been associated with polymorphisms or mutations in"]}, "NCBIGene:100551640": {"synonym_eng": ["<em class=\"hilite\">parkinson</em> protein 7"], "synonym_std": ["<em class=\"hilite\">parkinson</em> protein 7"]}, "HP:0001716": {"label_std": ["Wolff-<em class=\"hilite\">Parkinson</em>-White syndrome"], "label_eng": ["Wolff-<em class=\"hilite\">Parkinson</em>-White syndrome"]}, "OMIM:602404": {"synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE 3, AUTOSOMAL DOMINANT; PARK3", "<em class=\"hilite\">Parkinson</em> Disease 3, Autosomal Dominant", "<em class=\"hilite\">Parkinson</em> Disease 3, Autosomal Dominant Lewy Body"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE 3, AUTOSOMAL DOMINANT; PARK3", "<em class=\"hilite\">Parkinson</em> Disease 3, Autosomal Dominant", "<em class=\"hilite\">Parkinson</em> Disease 3, Autosomal Dominant Lewy Body"]}, "GeneReviews:NBK1437": {"definition_eng": [" of TH deficiency [DYT5b]), (2) TH-deficient infantile <em class=\"hilite\">parkinsonism</em> with motor delay (the severe form), and", " infantile <em class=\"hilite\">parkinsonism</em> with motor delay, onset is between age three and 12 months. In contrast", " truncal hypotonia and <em class=\"hilite\">parkinsonian</em> symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor"]}, "OMIM:616710": {"label_std": ["<em class=\"hilite\">Parkinson</em> disease 22, autosomal dominant", "<em class=\"hilite\">Parkinson</em> Disease 22, Autosomal Dominant; PARK22", "<em class=\"hilite\">Parkinson</em> Disease 22, Autosomal Dominant"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE 22, AUTOSOMAL DOMINANT; PARK22", "<em class=\"hilite\">Parkinson</em> Disease 22, Autosomal Dominant"], "label_eng": ["<em class=\"hilite\">Parkinson</em> disease 22, autosomal dominant", "<em class=\"hilite\">Parkinson</em> Disease 22, Autosomal Dominant; PARK22", "<em class=\"hilite\">Parkinson</em> Disease 22, Autosomal Dominant"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE 22, AUTOSOMAL DOMINANT; PARK22", "<em class=\"hilite\">Parkinson</em> Disease 22, Autosomal Dominant"]}, "Orphanet:98933": {"synonym_eng": ["MSA, <em class=\"hilite\">parkinsonian</em> type"], "definition_eng": ["Multiple system atrophy, <em class=\"hilite\">parkinsonian</em> type (MSA-p) is a form of multiple system atrophy (MSA; see", " this term) with predominant <em class=\"hilite\">parkinsonian</em> features (bradykinesia, rigidity, irregular jerky postural"], "label_eng": ["Multiple system atrophy, <em class=\"hilite\">parkinsonian</em> type"]}, "OMIM:606324": {"label_std": ["<em class=\"hilite\">Parkinson</em> disease 7", "<em class=\"hilite\">Parkinson</em> Disease 7, Autosomal Recessive Early-Onset", "autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease 7"], "synonym_eng": ["autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease type 7", "<em class=\"hilite\">PARKINSON</em> DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7"], "definition_eng": ["A <em class=\"hilite\">Parkinson's</em> disease that has_material_basis_in homozygous or compound heterozygous mutation"], "label_eng": ["<em class=\"hilite\">Parkinson</em> disease 7", "<em class=\"hilite\">Parkinson</em> Disease 7, Autosomal Recessive Early-Onset", "autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease 7"], "synonym_std": ["autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease type 7", "<em class=\"hilite\">PARKINSON</em> DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7"]}, "Orphanet:307055": {"label_eng": ["Rare <em class=\"hilite\">parkinsonian</em> syndrome due to genetic neurodegenerative disease"]}, "KEGG-ds:H01154": {"label_std": ["Wolff-<em class=\"hilite\">Parkinson</em>-White (WPW) syndrome; Preexcitation syndrome"], "label_eng": ["Wolff-<em class=\"hilite\">Parkinson</em>-White (WPW) syndrome; Preexcitation syndrome"]}, "NCBIGene:610760": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"]}, "GeneReviews:NBK268647": {"definition_eng": [" of <em class=\"hilite\">parkinsonism</em> (typically of the akinetic-rigid type without tremor that is levodopa unresponsive"]}, "Orphanet:97355": {"definition_eng": ["<em class=\"hilite\">Parkinsonism</em> with dementia of Guadeloupe is characterised by symmetrical bradykinesia"], "label_eng": ["<em class=\"hilite\">Parkinsonism</em> with dementia of Guadeloupe"]}, "NCBIGene:100010357": {"synonym_eng": ["<em class=\"hilite\">parkinson</em> protein 7"], "synonym_std": ["<em class=\"hilite\">parkinson</em> protein 7"]}, "OMIM:128235": {"synonym_eng": ["Rapid-onset dystonia-<em class=\"hilite\">parkinsonism</em>", "Dystonia-<em class=\"hilite\">Parkinsonism</em>, Rapid-Onset", "Rapid-Onset Dystonia <em class=\"hilite\">Parkinsonism</em>"], "definition_eng": ["Dystonia-12, also known as rapid-onset dystonia-<em class=\"hilite\">parkinsonism</em>, is an autosomal dominant disorder", " characterized by abrupt onset of asymmetric dystonia and <em class=\"hilite\">parkinsonism</em> in young adulthood, often after a trigger", "Rapid-onset dystonia-<em class=\"hilite\">parkinsonism</em> (RDP) is a very rare movement disorder, characterized by the", " abrupt onset of <em class=\"hilite\">parkinsonism</em> and dystonia, often triggered by physical or psychological stress."]}, "OMIM:556500": {"label_std": ["<em class=\"hilite\">Parkinson</em> disease, mitochondrial", "<em class=\"hilite\">Parkinson</em> Disease, Mitochondrial"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE, MITOCHONDRIAL"], "label_eng": ["<em class=\"hilite\">Parkinson</em> disease, mitochondrial", "<em class=\"hilite\">Parkinson</em> Disease, Mitochondrial"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE, MITOCHONDRIAL"]}, "OMIM:615528": {"label_std": ["juvenile onset <em class=\"hilite\">Parkinson</em> disease 19A", "<em class=\"hilite\">Parkinson</em> disease 19a, juvenile-onset", "<em class=\"hilite\">Parkinson</em> Disease 19A, Juvenile-Onset"], "synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease 19B, Early-Onset", "juvenile onset <em class=\"hilite\">Parkinson</em> disease type 19A", "<em class=\"hilite\">PARKINSON</em> DISEASE 19A, JUVENILE-ONSET; PARK19A", "<em class=\"hilite\">PARKINSON</em> DISEASE 19, JUVENILE-ONSET; PARK19"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease 19B, Early-Onset", "juvenile onset <em class=\"hilite\">Parkinson</em> disease type 19A", "<em class=\"hilite\">PARKINSON</em> DISEASE 19A, JUVENILE-ONSET; PARK19A", "<em class=\"hilite\">PARKINSON</em> DISEASE 19, JUVENILE-ONSET; PARK19"], "definition_eng": ["<em class=\"hilite\">Parkinson</em> disease-19A is an autosomal recessive neurodegenerative disorder characterized by onset", " of <em class=\"hilite\">parkinsonism</em> in the first or second decade. Some patients may have additional neurologic features, including", "}).\n\n<em class=\"hilite\">Parkinson</em> disease-19B is an autosomal recessive neurodegenerative disorder with onset of <em class=\"hilite\">parkinsonism</em>", "-onset <em class=\"hilite\">Parkinson</em> disease (PD), and has a beneficial response to dopaminergic therapy ({4:Olgiati", " et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of <em class=\"hilite\">Parkinson</em> disease", "A <em class=\"hilite\">Parkinson's</em> disease that has_material_basis_in homozygous mutation in the DNAJC6 gene"], "label_eng": ["juvenile onset <em class=\"hilite\">Parkinson</em> disease 19A", "<em class=\"hilite\">Parkinson</em> disease 19a, juvenile-onset", "<em class=\"hilite\">Parkinson</em> Disease 19A, Juvenile-Onset"], "definition_std": ["<em class=\"hilite\">Parkinson</em> disease-19A is an autosomal recessive neurodegenerative disorder characterized by onset", "}).\n\n<em class=\"hilite\">Parkinson</em> disease-19B is an autosomal recessive neurodegenerative disorder with onset of parkinsonism", "-onset <em class=\"hilite\">Parkinson</em> disease (PD), and has a beneficial response to dopaminergic therapy ({4:Olgiati et al", "., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of <em class=\"hilite\">Parkinson</em> disease"]}, "NCBIGene:26058": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 11"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 11"]}, "OMIM:613164": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease type 16", "<em class=\"hilite\">PARKINSON</em> DISEASE 16; PARK16"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease type 16", "<em class=\"hilite\">PARKINSON</em> DISEASE 16; PARK16"]}, "DOID:4260": {"definition_eng": ["; BASAL GANGLIA DISEASES (e.g., <em class=\"hilite\">PARKINSONIAN</em> DISORDERS); DEMENTIA, MULTI-INFARCT; ALZHEIMER DISEASE; and"]}, "OMIM:234200": {"definition_eng": [" in extrapyramidal movements, such as <em class=\"hilite\">parkinsonism</em> and dystonia. Age at onset, severity, and cognitive involvement", "), also known as <em class=\"hilite\">Parkinson</em> disease-9 (PARK9), have iron deposition in the basal ganglia.\n\n<Subhead"], "definition_std": ["), also known as <em class=\"hilite\">Parkinson</em> disease-9 (PARK9), have iron deposition in the basal ganglia.\n\n<Subhead"]}, "MESH:C567844": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease 14, Autosomal Recessive"], "label_eng": ["Dystonia-<em class=\"hilite\">Parkinsonism</em>, Adult-Onset"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease 14, Autosomal Recessive"]}, "OMIM:615530": {"label_std": ["<em class=\"hilite\">Parkinson</em> disease 20, early-onset", "early-onset <em class=\"hilite\">Parkinson</em> disease 20", "<em class=\"hilite\">Parkinson</em> Disease 20, Early-Onset"], "synonym_eng": ["early-onset <em class=\"hilite\">Parkinson</em> disease type 20", "<em class=\"hilite\">PARKINSON</em> DISEASE 20, EARLY-ONSET; PARK20"], "synonym_std": ["early-onset <em class=\"hilite\">Parkinson</em> disease type 20", "<em class=\"hilite\">PARKINSON</em> DISEASE 20, EARLY-ONSET; PARK20"], "definition_eng": ["<em class=\"hilite\">Parkinson</em> disease-20 is an autosomal recessive neurodegenerative disorder characterized by young", " adult-onset of <em class=\"hilite\">parkinsonism</em>. Additional features may include seizures, cognitive decline, abnormal eye", " description and a discussion of genetic heterogeneity of <em class=\"hilite\">Parkinson</em> disease, see PD (OMIM:168600).", "An early-onset <em class=\"hilite\">Parkinson</em> disease that has_material_basis_in homozygous mutation in the SYNJ1 gene"], "label_eng": ["<em class=\"hilite\">Parkinson</em> disease 20, early-onset", "early-onset <em class=\"hilite\">Parkinson</em> disease 20", "<em class=\"hilite\">Parkinson</em> Disease 20, Early-Onset"], "definition_std": ["<em class=\"hilite\">Parkinson</em> disease-20 is an autosomal recessive neurodegenerative disorder characterized by young", " description and a discussion of genetic heterogeneity of <em class=\"hilite\">Parkinson</em> disease, see PD (OMIM:168600).", "An early-onset <em class=\"hilite\">Parkinson</em> disease that has_material_basis_in homozygous mutation in the SYNJ1 gene"]}, "Orphanet:306679": {"label_eng": ["Rare <em class=\"hilite\">parkinsonian</em> syndrome due to intoxication"]}, "OMIM:221820": {"definition_eng": [", impaired balance, <em class=\"hilite\">parkinsonism</em>, spasticity and epilepsy."]}, "GeneReviews:NBK185329": {"definition_eng": [", axonal neuropathy, <em class=\"hilite\">parkinsonism</em>, and bowel/bladder incontinence. Survival is usually well into adulthood", ". End-stage disease is characterized by severe dementia, spasticity, dystonia, and <em class=\"hilite\">parkinsonism</em>"]}, "GeneReviews:NBK1236": {"definition_eng": [", hallucinations, seizures, <em class=\"hilite\">Parkinsonian</em> features, increased muscle tone, myoclonus, incontinence, and mutism"]}, "NCBIGene:720833": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"]}, "OMIM:128230": {"synonym_eng": ["Dystonia-<em class=\"hilite\">Parkinsonism</em> With Diurnal Fluctuation", "Dystonia-<em class=\"hilite\">Parkinsonism</em> with diurnal fluctuation"], "definition_eng": [" that may be associated with <em class=\"hilite\">parkinsonism</em> at an older age."]}, "GeneReviews:NBK1489": {"definition_eng": ["Individuals with X-linked dystonia-<em class=\"hilite\">parkinsonism</em> (XDP) have dystonia of varying severity and", " <em class=\"hilite\">parkinsonism</em>. XDP afflicts primarily Filipino men and, rarely, women. The mean age of onset in men is 39 years", "; the clinical course is highly variable with <em class=\"hilite\">parkinsonism</em> as the initial presenting sign, overshadowed", " by dystonia as the disease progresses. Features of <em class=\"hilite\">parkinsonism</em> include resting tremor, bradykinesia, rigidity", " characteristic being jaw dystonia often progressing to neck dystonia. Individuals with pure <em class=\"hilite\">parkinsonism</em> have non", "-disabling symptoms that are only slowly progressive; those who develop a combination of <em class=\"hilite\">parkinsonism</em> and", " manifest dystonia, <em class=\"hilite\">parkinsonism</em>, or chorea. [GeneReviews:NBK1116, GeneReviews:NBK138602"], "label_eng": ["X-Linked Dystonia-<em class=\"hilite\">Parkinsonism</em> Syndrome"]}, "OMIM:615643": {"definition_eng": [" manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, <em class=\"hilite\">parkinsonism</em>", " show extrapyramidal motor signs, such as spasticity, dystonia, and <em class=\"hilite\">parkinsonism</em>. Brain imaging shows"]}, "DOID:0060894": {"label_std": ["early-onset <em class=\"hilite\">Parkinson</em> disease"], "synonym_eng": ["Early-onset <em class=\"hilite\">Parkinson</em> disease"], "synonym_std": ["Early-onset <em class=\"hilite\">Parkinson</em> disease"], "definition_eng": ["Young-onset <em class=\"hilite\">Parkinson</em> disease (YOPD) is a form of <em class=\"hilite\">Parkinson</em> disease (PD), characterized by an age"], "label_eng": ["early-onset <em class=\"hilite\">Parkinson</em> disease"], "definition_std": ["Young-onset <em class=\"hilite\">Parkinson</em> disease (YOPD) is a form of <em class=\"hilite\">Parkinson</em> disease (PD), characterized by an age"]}, "OMIM:614251": {"label_std": ["<em class=\"hilite\">Parkinson</em> disease 18", "<em class=\"hilite\">Parkinson</em> Disease 18, Autosomal Dominant, Susceptibility to"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK18"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK18"], "definition_eng": ["<em class=\"hilite\">Parkinson</em> disease-18 is an autosomal dominant, adult-onset form of the disorder", ". It is phenotypically similar to idiopathic <em class=\"hilite\">Parkinson</em> disease (summary by {1:Chartier-Harlin et al., 2011}).\n\nFor", " a general phenotypic description and a discussion of genetic heterogeneity of <em class=\"hilite\">Parkinson</em> disease (PD), see"], "label_eng": ["<em class=\"hilite\">Parkinson</em> disease 18", "<em class=\"hilite\">Parkinson</em> Disease 18, Autosomal Dominant, Susceptibility to"], "definition_std": ["<em class=\"hilite\">Parkinson</em> disease-18 is an autosomal dominant, adult-onset form of the disorder. It is", " phenotypically similar to idiopathic <em class=\"hilite\">Parkinson</em> disease (summary by {1:Chartier-Harlin et al., 2011}).\n\nFor a", " general phenotypic description and a discussion of genetic heterogeneity of <em class=\"hilite\">Parkinson</em> disease (PD), see"]}, "OMIM:300557": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease, X-Linked", "<em class=\"hilite\">Parkinson</em> Disease type 12", "<em class=\"hilite\">PARKINSON</em> DISEASE 12; PARK12"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease, X-Linked", "<em class=\"hilite\">Parkinson</em> Disease type 12", "<em class=\"hilite\">PARKINSON</em> DISEASE 12; PARK12"]}, "DOID:14330": {"synonym_eng": ["Primary <em class=\"hilite\">Parkinsonism</em>", "Idiopathic <em class=\"hilite\">Parkinson's</em> Disease", "<em class=\"hilite\">Parkinson</em> disease", "<em class=\"hilite\">Parkinson's</em> Disease", "Lewy Body <em class=\"hilite\">Parkinson</em> Disease", "<em class=\"hilite\">Parkinson</em> Disease, Idiopathic", "<em class=\"hilite\">Parkinson's</em> Disease, Idiopathic", "<em class=\"hilite\">Parkinsonism</em>, Primary", "<em class=\"hilite\">Parkinson's</em> Disease, Lewy Body", "Idiopathic <em class=\"hilite\">Parkinson</em> Disease", "Lewy Body <em class=\"hilite\">Parkinson's</em> Disease"], "label_eng": ["<em class=\"hilite\">Parkinson's</em> disease"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease", "Lewy Body <em class=\"hilite\">Parkinson</em> Disease", "<em class=\"hilite\">Parkinson</em> Disease, Idiopathic", "Idiopathic <em class=\"hilite\">Parkinson</em> Disease"]}, "GeneReviews:NBK100241": {"definition_eng": ["The disorder dystonia/<em class=\"hilite\">parkinsonism</em>, hypermanganesemia, polycythemia, and chronic liver disease"], "label_eng": ["Dystonia/<em class=\"hilite\">Parkinsonism</em>, Hypermanganesemia, Polycythemia, and Chronic Liver Disease"]}, "OMIM:613135": {"synonym_eng": ["<em class=\"hilite\">PARKINSONISM</em>-DYSTONIA, INFANTILE; PKDYS"], "definition_eng": ["Infantile dystonia-<em class=\"hilite\">parkinsonism</em> (IPD) is an extremely rare inherited neurological syndrome that", " presents in early infancy with hypokinetic <em class=\"hilite\">parkinsonism</em> and dystonia and that can be fatal.", "Infantile <em class=\"hilite\">parkinsonism</em>-dystonia, also known as dopamine transporter deficiency syndrome (DTDS", " hyperkinesia with orolingual and limb dyskinesia, dystonia, and chorea, or hypokinesia with <em class=\"hilite\">parkinsonian</em>"], "label_eng": ["<em class=\"hilite\">Parkinsonism</em>-Dystonia, Infantile", "Infantile <em class=\"hilite\">Parkinsonism</em>-dystonia", "Infantile dystonia-<em class=\"hilite\">parkinsonism</em>"]}, "OMIM:601104": {"definition_eng": ["Progressive supranuclear palsy (PSP) is the second most frequent cause of degenerative <em class=\"hilite\">parkinsonism</em>", ". In addition to <em class=\"hilite\">parkinsonism</em>, the clinical symptoms include early postural instability, supranuclear gaze palsy", " (PSNP3; OMIM:610898).\n\nSee also <em class=\"hilite\">Parkinson</em>-dementia syndrome and atypical progressive supranuclear palsy"], "definition_std": [" 1q31 (PSNP2; OMIM:609454) and 11p12-p11 (PSNP3; OMIM:610898).\n\nSee also <em class=\"hilite\">Parkinson</em>-dementia syndrome and"]}, "OMIM:168605": {"synonym_eng": ["<em class=\"hilite\">Parkinsonism</em> with alveolar hypoventilation and mental depression", "<em class=\"hilite\">parkinsonism</em> with alveolar hypoventilation and mental depression", "<em class=\"hilite\">Parkinsonism</em> With Alveolar Hypoventilation and Mental Depression", "<em class=\"hilite\">Parkinsonism</em> with Alveolar Hypoventilation and Mental Depression"], "definition_eng": [" early-onset <em class=\"hilite\">parkinsonism</em>, central hypoventilation, weight loss, insomnia and depression.", " by adult-onset <em class=\"hilite\">parkinsonism</em> and depression, followed by weight loss and respiratory hypoventilation"]}, "DOID:0060893": {"label_std": ["juvenile-onset <em class=\"hilite\">Parkinson</em> disease"], "label_eng": ["juvenile-onset <em class=\"hilite\">Parkinson</em> disease"]}, "NCBIGene:511268": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> disease protein 7 homolog"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> disease protein 7 homolog"]}, "OMIM:612067": {"synonym_eng": ["Early-onset dystonia <em class=\"hilite\">parkinsonism</em>"], "definition_eng": [" by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and <em class=\"hilite\">parkinsonism</em>."]}, "GeneReviews:NBK1497": {"definition_eng": [", pyramidal signs, <em class=\"hilite\">Parkinsonian</em>, and macro-orchidism (PPM-X syndrome). [GeneReviews:NBK1116"]}, "MESH:C564631": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 8"], "synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease type 8"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 8"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease type 8"]}, "GeneReviews:NBK1387": {"definition_eng": [" disorder is mostly limb chorea, but some individuals present with <em class=\"hilite\">parkinsonism</em>. Dystonia is common and"]}, "Orphanet:307052": {"label_eng": ["Rare genetic <em class=\"hilite\">parkinsonian</em> disorder"]}, "DOID:332": {"synonym_eng": ["Amyotrophic Lateral Sclerosis-<em class=\"hilite\">Parkinsonism</em>-Dementia Complex 1", "Amyotrophic Lateral Sclerosis <em class=\"hilite\">Parkinsonism</em> Dementia Complex 1", "Amyotrophic Lateral Sclerosis, <em class=\"hilite\">Parkinsonism</em> Dementia Complex of Guam", "Amyotrophic Lateral Sclerosis, <em class=\"hilite\">Parkinsonism</em>-Dementia Complex of Guam"]}, "GeneReviews:NBK47027": {"definition_eng": ["Perry syndrome is characterized by <em class=\"hilite\">parkinsonism</em>, hypoventilation, depression, and weight loss. The", " mean age at onset is 48 years; the mean disease duration is five years. <em class=\"hilite\">Parkinsonism</em> and psychiatric"]}, "NCBIGene:395277": {"synonym_eng": ["<em class=\"hilite\">parkinsonism</em>-associated deglycase", "<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> disease protein 7 homolog", "<em class=\"hilite\">Parkinson</em> disease 7"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> disease protein 7 homolog", "<em class=\"hilite\">Parkinson</em> disease 7"]}, "GeneReviews:NBK1371": {"definition_eng": [" extrapyramidal features such as <em class=\"hilite\">parkinsonism</em> and corticobasal syndrome. A broad range of clinical features both", " lose their ability to communicate. Early findings of <em class=\"hilite\">parkinsonism</em> include rigidity, bradykinesia"]}, "DOID:0060892": {"label_std": ["late onset <em class=\"hilite\">Parkinson</em> disease"], "label_eng": ["late onset <em class=\"hilite\">Parkinson</em> disease"]}, "Orphanet:314632": {"label_eng": ["<em class=\"hilite\">Parkinsonism</em> due to ATP13A2 deficiency"]}, "GeneReviews:NBK1478": {"label_std": ["Parkin Type of Early-Onset <em class=\"hilite\">Parkinson</em> Disease"], "definition_eng": ["Parkin type of early-onset <em class=\"hilite\">Parkinson</em> disease is characterized by rigidity, bradykinesia, and"], "label_eng": ["Parkin Type of Early-Onset <em class=\"hilite\">Parkinson</em> Disease"], "definition_std": ["Parkin type of early-onset <em class=\"hilite\">Parkinson</em> disease is characterized by rigidity, bradykinesia, and"]}, "NCBIGene:741350": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"]}, "OMIM:615007": {"definition_eng": [" of mutation carriers are asymptomatic, but some present later in life with <em class=\"hilite\">parkinsonism</em> and impaired cognitive"]}, "GeneReviews:NBK1208": {"label_std": ["LRRK2-Related <em class=\"hilite\">Parkinson</em> Disease"], "definition_eng": ["LRRK2-related <em class=\"hilite\">Parkinson</em> disease (PD) is characterized by features consistent with idiopathic"], "label_eng": ["LRRK2-Related <em class=\"hilite\">Parkinson</em> Disease"], "definition_std": ["LRRK2-related <em class=\"hilite\">Parkinson</em> disease (PD) is characterized by features consistent with idiopathic PD"]}, "GeneReviews:NBK1520": {"definition_eng": [" stature, optic atrophy, and cardiomyopathy with Wolff-<em class=\"hilite\">Parkinson</em>-White (WPW) syndrome. Pigmentary"], "definition_std": [", short stature, optic atrophy, and cardiomyopathy with Wolff-<em class=\"hilite\">Parkinson</em>-White (WPW) syndrome. Pigmentary"]}, "GeneReviews:NBK121988": {"definition_eng": [" in which iron accumulates in the basal ganglia resulting in progressive dystonia, spasticity, <em class=\"hilite\">parkinsonism</em>"]}, "GeneReviews:NBK1438": {"definition_eng": [" the initial findings, followed by involuntary movement, <em class=\"hilite\">parkinsonism</em>, dementia, and pyramidal signs"]}, "GeneReviews:NBK1161": {"definition_eng": [". Occasionally, seizures, <em class=\"hilite\">Parkinsonian</em> features, increased muscle tone, myoclonus, incontinence, and mutism occur"]}, "OMIM:613647": {"definition_eng": [", although childhood onset has been reported in 1 patient. Additional features may include <em class=\"hilite\">parkinsonism</em>"]}, "OMIM:607485": {"definition_eng": [" of Alzheimer disease (AD; OMIM:104300) or <em class=\"hilite\">Parkinson</em> disease (PD; OMIM:168600), which are part of the phenotypic"], "definition_std": [" Alzheimer disease (AD; OMIM:104300) or <em class=\"hilite\">Parkinson</em> disease (PD; OMIM:168600), which are part of the phenotypic"]}, "OMIM:105400": {"definition_eng": [" <em class=\"hilite\">parkinsonism</em> complicate the clinical picture.\n\n<Subhead> Genetic Heterogeneity of Amyotrophic Lateral Sclerosis"]}, "MESH:C566017": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 5"], "synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease type 5"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 5"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease type 5"]}, "GeneReviews:NBK1275": {"definition_eng": [" nystagmus, slow saccadic eye movements and, in some individuals, ophthalmoparesis or <em class=\"hilite\">parkinsonism</em>. Pyramidal"]}, "NCBIGene:780404": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7"]}, "OMIM:604187": {"definition_eng": [", moderate intellectual disability and <em class=\"hilite\">parkinsonism</em>. Deafness and retinitis pigmentosa were reported in one", "). Rarely, patients with KIF5A mutations may have additional neurologic features, including <em class=\"hilite\">parkinsonism</em>"]}, "OMIM:605407": {"synonym_eng": ["Autosomal Recessive Infantile <em class=\"hilite\">Parkinsonism</em>", "<em class=\"hilite\">Parkinsonism</em>, Infantile, Autosomal Recessive", "<em class=\"hilite\">Parkinsonism</em>, infantile, autosomal recessive"], "definition_eng": [" type (summary by {10:Stamelou et al., 2012}).\n\nSee also infantile <em class=\"hilite\">parkinsonism</em>-dystonia syndrome (OMIM"]}, "OMIM:260300": {"label_std": ["autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease 15", "<em class=\"hilite\">Parkinson</em> disease 15", "<em class=\"hilite\">Parkinson</em> Disease 15, Autosomal Recessive Early-Onset"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15", "<em class=\"hilite\">Parkinsonian</em>-Pyramidal Syndrome", "<em class=\"hilite\">Parkinsonian</em>-pyramidal syndrome", "<em class=\"hilite\">Parkinson</em> Disease 15, Autosomal Recessive", "autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease type 15"], "definition_eng": ["A <em class=\"hilite\">Parkinson's</em> disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3."], "label_eng": ["autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease 15", "<em class=\"hilite\">Parkinson</em> disease 15", "<em class=\"hilite\">Parkinson</em> Disease 15, Autosomal Recessive Early-Onset"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15", "<em class=\"hilite\">Parkinson</em> Disease 15, Autosomal Recessive", "autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease type 15"]}, "NCBIGene:513454": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"]}, "HP:0001300": {"synonym_eng": ["<em class=\"hilite\">Parkinsonian</em> disease"], "label_eng": ["<em class=\"hilite\">Parkinsonism</em>"]}, "GeneReviews:NBK1508": {"definition_eng": [" disturbance caused by foot dystonia, later development of <em class=\"hilite\">parkinsonism</em>, and diurnal fluctuation of symptoms"]}, "OMIM:607136": {"definition_eng": [" dementia, psychiatric disorders, <em class=\"hilite\">parkinsonism</em>, dystonia, chorea, spasticity, and epilepsy."]}, "MESH:C565204": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 13"], "synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease type 13"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 13"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease type 13"]}, "NCBIGene:479595": {"synonym_eng": ["<em class=\"hilite\">Parkinsonism</em> associated deglycase", "<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7"]}, "Orphanet:99750": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em>-Dementia Syndrome"], "definition_eng": [" syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-<em class=\"hilite\">Parkinsonism</em>"], "synonym_std": ["<em class=\"hilite\">Parkinson</em>-Dementia Syndrome"]}, "OMIM:125320": {"synonym_eng": ["DEMENTIA/<em class=\"hilite\">PARKINSONISM</em> WITH NON-ALZHEIMER AMYLOID PLAQUES"], "label_eng": ["Dementia/<em class=\"hilite\">Parkinsonism</em> With Non-Alzheimer Amyloid Plaques"]}, "OMIM:616413": {"definition_eng": [" remain asymptomatic. Clinical features can include dystonia, <em class=\"hilite\">parkinsonism</em>, gait abnormalities, psychosis"]}, "MESH:D020734": {"synonym_eng": ["Juvenile <em class=\"hilite\">Parkinson</em> Disease, Autosomal Recessive", "Autosomal Recesssive Juvenile <em class=\"hilite\">Parkinsonism</em>", "Juvenile <em class=\"hilite\">Parkinson</em> Disease", "<em class=\"hilite\">Parkinson</em> Disease, Familial, Autosomal Recessive", "<em class=\"hilite\">Parkinsonism</em>, Autosomal Recessive", "<em class=\"hilite\">Parkinsonism</em>, Early Onset, with Diurnal Fluctuation", "<em class=\"hilite\">Parkinson</em> Disease, Juvenile", "<em class=\"hilite\">Parkinsonism</em>, Juvenile, Autosomal Recessive", "Experimental <em class=\"hilite\">Parkinsonism</em>, MPTP Induced", "<em class=\"hilite\">Parkinson</em> Disease 2", "Experimental <em class=\"hilite\">Parkinson</em> Diseases", "Chromosome 6 Linked Autosomal Recessive <em class=\"hilite\">Parkinsonism</em>", "<em class=\"hilite\">Parkinsonian</em> Diseases", "Juvenile <em class=\"hilite\">Parkinson</em> Disease, Autosomal Dominant", "Autosomal Dominant <em class=\"hilite\">Parkinsonism</em>", "<em class=\"hilite\">Parkinson</em> Disease, Experimental", "Diseases, Experimental <em class=\"hilite\">Parkinson</em>", "Juvenile <em class=\"hilite\">Parkinsonism</em>, Familial", "<em class=\"hilite\">Parkinsonism</em>, Juvenile, Autosomal Dominant", "<em class=\"hilite\">Parkinson</em> Disease, Autosomal Dominant. Juvenile", "<em class=\"hilite\">Parkinsonian</em> Syndromes", "<em class=\"hilite\">Parkinson</em> Diseases, Experimental", "Autosomal Recessive <em class=\"hilite\">Parkinsonism</em>", "Juvenile <em class=\"hilite\">Parkinsonism</em>, Autosomal Recessive", "<em class=\"hilite\">Parkinson</em> Disease, Juvenile, Autosomal Dominant", "<em class=\"hilite\">Parkinsonism</em>, Early-Onset, With Diurnal Fluctuation", "<em class=\"hilite\">Parkinson</em> Disease 2, Autosomal Recessive Juvenile", "<em class=\"hilite\">Parkinsonisms</em>, Experimental", "<em class=\"hilite\">Parkinson</em> Disease Autosomal Recessive, Early Onset", "<em class=\"hilite\">Parkinsonism</em>, Juvenile", "Autosomal Dominant Juvenile <em class=\"hilite\">Parkinsonism</em>", "Familial Juvenile <em class=\"hilite\">Parkinsonism</em>", "Juvenile <em class=\"hilite\">Parkinsonisms</em>", "Dominant <em class=\"hilite\">Parkinsonism</em>, Autosomal", "<em class=\"hilite\">Parkinson</em> Disease, Juvenile, Autosomal Recessive", "<em class=\"hilite\">Parkinsonism</em>, MPTP-Induced Experimental", "Chromosome 6-Linked Autosomal Recessive <em class=\"hilite\">Parkinsonism</em>", "Juvenile <em class=\"hilite\">Parkinsonism</em>, Autosomal Dominant", "<em class=\"hilite\">Parkinsonism</em>, Familial Juvenile", "MPTP Induced Experimental <em class=\"hilite\">Parkinsonism</em>", "<em class=\"hilite\">Parkinsonism</em>, Autosomal Dominant", "Familial <em class=\"hilite\">Parkinson</em> Disease, Autosomal Recessive", "<em class=\"hilite\">Parkinsonism</em>, Experimental", "Experimental <em class=\"hilite\">Parkinsonism</em>, MPTP-Induced", "Experimental <em class=\"hilite\">Parkinson</em> Disease", "<em class=\"hilite\">Parkinsonian</em> Syndrome", "Recessive <em class=\"hilite\">Parkinsonism</em>, Autosomal", "Juvenile <em class=\"hilite\">Parkinsonism</em>", "Experimental <em class=\"hilite\">Parkinsonism</em>", "Autosomal Dominant Juvenile <em class=\"hilite\">Parkinson</em> Disease", "<em class=\"hilite\">Parkinsonism</em>", "<em class=\"hilite\">Parkinsonisms</em>, Juvenile", "Experimental <em class=\"hilite\">Parkinsonisms</em>", "MPTP-Induced Experimental <em class=\"hilite\">Parkinsonism</em>", "Autosomal Recessive Juvenile <em class=\"hilite\">Parkinson</em> Disease"], "definition_eng": [" RIGIDITY; TREMOR; and postural instability. <em class=\"hilite\">Parkinsonian</em> diseases are generally divided into primary", " <em class=\"hilite\">parkinsonism</em> (see <em class=\"hilite\">PARKINSON</em> DISEASE), secondary <em class=\"hilite\">parkinsonism</em> (see <em class=\"hilite\">PARKINSON</em> DISEASE, SECONDARY) and inherited"], "label_eng": ["<em class=\"hilite\">Parkinsonian</em> Disorders"], "synonym_std": ["Juvenile <em class=\"hilite\">Parkinson</em> Disease, Autosomal Recessive", "Juvenile <em class=\"hilite\">Parkinson</em> Disease", "<em class=\"hilite\">Parkinson</em> Disease, Familial, Autosomal Recessive", "<em class=\"hilite\">Parkinson</em> Disease, Juvenile", "<em class=\"hilite\">Parkinson</em> Disease 2", "Experimental <em class=\"hilite\">Parkinson</em> Diseases", "Juvenile <em class=\"hilite\">Parkinson</em> Disease, Autosomal Dominant", "<em class=\"hilite\">Parkinson</em> Disease, Experimental", "Diseases, Experimental <em class=\"hilite\">Parkinson</em>", "<em class=\"hilite\">Parkinson</em> Disease, Autosomal Dominant. Juvenile", "<em class=\"hilite\">Parkinson</em> Diseases, Experimental", "<em class=\"hilite\">Parkinson</em> Disease, Juvenile, Autosomal Dominant", "<em class=\"hilite\">Parkinson</em> Disease 2, Autosomal Recessive Juvenile", "<em class=\"hilite\">Parkinson</em> Disease Autosomal Recessive, Early Onset", "<em class=\"hilite\">Parkinson</em> Disease, Juvenile, Autosomal Recessive", "Familial <em class=\"hilite\">Parkinson</em> Disease, Autosomal Recessive", "Experimental <em class=\"hilite\">Parkinson</em> Disease", "Autosomal Dominant Juvenile <em class=\"hilite\">Parkinson</em> Disease", "Autosomal Recessive Juvenile <em class=\"hilite\">Parkinson</em> Disease"], "definition_std": [" parkinsonism (see <em class=\"hilite\">PARKINSON</em> DISEASE), secondary parkinsonism (see <em class=\"hilite\">PARKINSON</em> DISEASE, SECONDARY) and inherited"]}, "KEGG-ds:H00057": {"label_eng": ["<em class=\"hilite\">Parkinson's</em> disease (PD)"]}, "MESH:C537176": {"label_std": ["<em class=\"hilite\">Parkinson</em> disease 3"], "synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease type 3"], "label_eng": ["<em class=\"hilite\">Parkinson</em> disease 3"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease type 3"]}, "OMIM:213600": {"definition_eng": [" either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including <em class=\"hilite\">parkinsonism</em>"]}, "NCBIGene:100057832": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"]}, "MP:0008493": {"definition_eng": [" in neurodegenerative disorders such as <em class=\"hilite\">Parkinson's</em> disease"]}, "Orphanet:68402": {"label_eng": ["Rare <em class=\"hilite\">parkinsonian</em> disorder"]}, "GeneReviews:NBK1409": {"definition_eng": [", dystonia, atypical <em class=\"hilite\">parkinsonism</em>, peripheral neuropathy, and seizures). Chronic diarrhea from infancy may"]}, "NCBIGene:100052123": {"synonym_eng": ["<em class=\"hilite\">Parkinsonism</em> associated deglycase"]}, "DOID:9255": {"synonym_eng": ["Frontotemporal Dementia with <em class=\"hilite\">Parkinsonism</em>-17", "Complices, Disinhibition-Dementia-<em class=\"hilite\">Parkinsonism</em>-Amyotrophy", "Disinhibition-Dementia-<em class=\"hilite\">Parkinsonism</em>-Amytrophy Complex", "Frontotemporal Dementia with <em class=\"hilite\">Parkinsonism</em> 17", "Complices, Disinhibition-Dementia-<em class=\"hilite\">Parkinsonism</em>-Amytrophy", "Complex, Disinhibition-Dementia-<em class=\"hilite\">Parkinsonism</em>-Amytrophy", "Disinhibition-Dementia-<em class=\"hilite\">Parkinsonism</em>-Amyotrophy Complex", "Frontotemporal Dementia with <em class=\"hilite\">Parkinsonism</em>", "Disinhibition-Dementia-<em class=\"hilite\">Parkinsonism</em>-Amytrophy Complices", "Disinhibition-Dementia-<em class=\"hilite\">Parkinsonism</em>-Amyotrophy Complices", "Disinhibition Dementia <em class=\"hilite\">Parkinsonism</em> Amyotrophy Complex", "Dementia, Frontotemporal, with <em class=\"hilite\">Parkinsonism</em>", "Disinhibition Dementia <em class=\"hilite\">Parkinsonism</em> Amytrophy Complex", "Complex, Disinhibition-Dementia-<em class=\"hilite\">Parkinsonism</em>-Amyotrophy"]}, "OMIM:314250": {"synonym_eng": ["X-Linked Dystonia-<em class=\"hilite\">Parkinsonism</em> Syndrome", "Torsion Dystonia-<em class=\"hilite\">Parkinsonism</em>, Filipino Type", "X-Linked Torsion Dystonia-<em class=\"hilite\">Parkinsonism</em> Syndrome", "Dystonia-<em class=\"hilite\">Parkinsonism</em>, X-Linked", "X-Linked Dystonia-<em class=\"hilite\">Parkinsonism</em>"], "definition_eng": ["X-linked dystonia-<em class=\"hilite\">parkinsonism</em> (XDP) is a neurodegenerative movement disorder characterized", " by adult-onset <em class=\"hilite\">parkinsonism</em> that is frequently accompanied by focal dystonia, which becomes generalized"], "label_eng": ["X-linked dystonia-<em class=\"hilite\">parkinsonism</em>"]}, "Orphanet:306692": {"label_eng": ["Cyanide-induced <em class=\"hilite\">parkinsonism</em>"]}, "Orphanet:99718": {"definition_eng": [", skeletal changes, <em class=\"hilite\">Parkinsonism</em> with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy"]}, "GeneReviews:NBK1223": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease Overview"], "synonym_eng": ["<em class=\"hilite\">parkinson</em>-overview"], "synonym_std": ["<em class=\"hilite\">parkinson</em>-overview"], "definition_eng": ["<em class=\"hilite\">Parkinsonism</em> refers to all clinical states characterized by tremor, muscle rigidity, slowed", " movement (bradykinesia) and often postural instability. <em class=\"hilite\">Parkinson</em> disease is the primary and most common", " form of <em class=\"hilite\">parkinsonism</em>. Psychiatric manifestations, which include depression and visual hallucinations", " common sporadic form of <em class=\"hilite\">Parkinson</em> disease manifests around age 60; however, young-onset and even juvenile"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease Overview"], "definition_std": [" movement (bradykinesia) and often postural instability. <em class=\"hilite\">Parkinson</em> disease is the primary and most common", " common sporadic form of <em class=\"hilite\">Parkinson</em> disease manifests around age 60; however, young-onset and even juvenile"]}, "GeneReviews:NBK1675": {"definition_eng": [" neuroaxonal dystrophy (atypical NAD) PLA2G6-related dystonia-<em class=\"hilite\">parkinsonism</em> [GeneReviews:NBK1116"]}, "OMIM:607688": {"label_std": ["<em class=\"hilite\">Parkinson</em> disease 11", "<em class=\"hilite\">Parkinson</em> Disease 11, Autosomal Dominant, Susceptibility to"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11"], "label_eng": ["<em class=\"hilite\">Parkinson</em> disease 11", "<em class=\"hilite\">Parkinson</em> Disease 11, Autosomal Dominant, Susceptibility to"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11"]}, "Orphanet:411602": {"label_std": ["Hereditary late-onset <em class=\"hilite\">Parkinson</em> disease"], "synonym_eng": ["Autosomal dominant late-onset <em class=\"hilite\">Parkinson</em> disease"], "synonym_std": ["Autosomal dominant late-onset <em class=\"hilite\">Parkinson</em> disease"], "definition_eng": ["Hereditary late-onset <em class=\"hilite\">Parkinson</em> disease (LOPD) is a form of <em class=\"hilite\">Parkinson</em> disease (PD), characterized"], "label_eng": ["Hereditary late-onset <em class=\"hilite\">Parkinson</em> disease"], "definition_std": ["Hereditary late-onset <em class=\"hilite\">Parkinson</em> disease (LOPD) is a form of <em class=\"hilite\">Parkinson</em> disease (PD), characterized"]}, "OMIM:157640": {"definition_eng": [" loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and <em class=\"hilite\">parkinsonism</em>. Both autosomal"]}, "GeneReviews:NBK1210": {"definition_eng": [", saccadic pursuit); retinal degeneration; pes cavus; scoliosis; and <em class=\"hilite\">parkinsonism</em>. Onset occurs mainly during"]}, "MGI:2135637": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7"]}, "DOID:4752": {"definition_eng": [" (cardiovascular and/or urinary), <em class=\"hilite\">parkinsonism</em>, cerebellar impairment and corticospinal signs with a median"]}, "OMIM:300894": {"definition_eng": [" or early adulthood. In young adulthood, affected individuals develop progressive dystonia, <em class=\"hilite\">parkinsonism</em>"]}, "OMIM:118301": {"synonym_eng": ["CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND <em class=\"hilite\">PARKINSONISM</em>"], "label_eng": ["Charcot-Marie-Tooth Disease With Ptosis and <em class=\"hilite\">Parkinsonism</em>"]}, "NCBIGene:100147623": {"synonym_eng": ["LOW QUALITY PROTEIN: <em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"], "synonym_std": ["LOW QUALITY PROTEIN: <em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"]}, "NCBIGene:100032502": {"synonym_eng": ["<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"], "synonym_std": ["<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"]}, "GeneReviews:NBK1505": {"definition_eng": ["), corticobasal degeneration (CBD), mild late-onset <em class=\"hilite\">parkinsonism</em>, and dementia with epilepsy. Clinical", " to moderate dementia in combination with asymmetric <em class=\"hilite\">parkinsonism</em>, ideomotor apraxia, aphasia, and an alien"]}, "OMIM:600274": {"synonym_eng": ["Frontotemporal Dementia With <em class=\"hilite\">Parkinsonism</em>", "Dementia, Frontotemporal, With <em class=\"hilite\">Parkinsonism</em>", "Disinhibition-Dementia-<em class=\"hilite\">Parkinsonism</em>-Amyotrophy Complex"], "definition_eng": [" associated with <em class=\"hilite\">parkinsonism</em> or motor neuron disease (MND) resembling amyotrophic lateral sclerosis (ALS", " include <em class=\"hilite\">parkinsonism</em> and dementia with pallidopontonigral degeneration (PPND) ({56:Wszolek et al., 1992", "}); disinhibition-dementia-<em class=\"hilite\">parkinsonism</em>-amyotrophy complex (DDPAC) ({29:Lynch et al., 1994}); frontotemporal", " dementia with <em class=\"hilite\">parkinsonism</em> (FLDEM) ({57:Yamaoka et al., 1996}); and multiple system tauopathy with", " degrees of frontal lobe dementia, <em class=\"hilite\">parkinsonism</em>, motor neuron disease, and amyotrophy.\n\nOther"]}, "MESH:D020267": {"synonym_eng": ["<em class=\"hilite\">Parkinsonism</em>, MPTP-Induced", "MPTP-Induced <em class=\"hilite\">Parkinsonism</em>", "MPTP Induced <em class=\"hilite\">Parkinsonism</em>"], "definition_eng": [" dopaminergic neurons. Clinical features include irreversible <em class=\"hilite\">parkinsonian</em> signs including rigidity and", " bradykinesia (<em class=\"hilite\">PARKINSON</em> DISEASE, SECONDARY). MPTP toxicity is also used as an animal model for the study", " of <em class=\"hilite\">PARKINSON</em> DISEASE. (Adams et al., Principles of Neurology, 6th ed, p1072; Neurology 1986 Feb;36(2):250-8)"], "definition_std": [" bradykinesia (<em class=\"hilite\">PARKINSON</em> DISEASE, SECONDARY). MPTP toxicity is also used as an animal model for the study of", " <em class=\"hilite\">PARKINSON</em> DISEASE. (Adams et al., Principles of Neurology, 6th ed, p1072; Neurology 1986 Feb;36(2):250-8)"]}, "Orphanet:306666": {"label_eng": ["Rare <em class=\"hilite\">parkinsonian</em> syndrome due to neurodegenerative disease"]}, "GeneReviews:NBK26471": {"definition_eng": [" neuropathy, ataxia, depression, <em class=\"hilite\">Parkinsonism</em>, hypogonadism, and cataracts (in what has been called ???chronic"]}, "GeneReviews:NBK447258": {"label_std": ["VPS35-Related <em class=\"hilite\">Parkinson</em> Disease"], "label_eng": ["VPS35-Related <em class=\"hilite\">Parkinson</em> Disease"]}, "GeneReviews:NBK1399": {"definition_eng": [" be observed. <em class=\"hilite\">Parkinsonian</em> features including rigidity and tremor have been described in some families"]}, "OMIM:605909": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 6, Autosomal Recessive Early-Onset", "<em class=\"hilite\">Parkinson</em> disease 6, autosomal recessive early-onset", "autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease 6"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6", "autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease type 6", "<em class=\"hilite\">Parkinson</em> Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1", "early-onset <em class=\"hilite\">Parkinson</em> disease 6", "<em class=\"hilite\">Parkinson</em> Disease, Autosomal Recessive Early-Onset, Digenic, Pink1-Dj1", "<em class=\"hilite\">Parkinson</em> Disease 6, Late-Onset, Susceptibility to", "<em class=\"hilite\">Parkinson</em> Disease 6, Early-Onset"], "definition_eng": ["A <em class=\"hilite\">Parkinson's</em> disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12."], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 6, Autosomal Recessive Early-Onset", "<em class=\"hilite\">Parkinson</em> disease 6, autosomal recessive early-onset", "autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease 6"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6", "autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease type 6", "<em class=\"hilite\">Parkinson</em> Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1", "early-onset <em class=\"hilite\">Parkinson</em> disease 6", "<em class=\"hilite\">Parkinson</em> Disease, Autosomal Recessive Early-Onset, Digenic, Pink1-Dj1", "<em class=\"hilite\">Parkinson</em> Disease 6, Late-Onset, Susceptibility to", "<em class=\"hilite\">Parkinson</em> Disease 6, Early-Onset"]}, "OMIM:605543": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 4, Autosomal Dominant", "autosomal dominant <em class=\"hilite\">Parkinson</em> disease 4", "<em class=\"hilite\">Parkinson</em> disease 4"], "synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease 4, Autosomal Dominant Lewy Body", "autosomal dominant <em class=\"hilite\">Parkinson</em> disease type 4", "autosomal dominant Lewy body <em class=\"hilite\">Parkinson</em> disease 4", "<em class=\"hilite\">PARKINSON</em> DISEASE 4, AUTOSOMAL DOMINANT; PARK4"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease 4, Autosomal Dominant Lewy Body", "autosomal dominant <em class=\"hilite\">Parkinson</em> disease type 4", "autosomal dominant Lewy body <em class=\"hilite\">Parkinson</em> disease 4", "<em class=\"hilite\">PARKINSON</em> DISEASE 4, AUTOSOMAL DOMINANT; PARK4"], "definition_eng": ["A late onset <em class=\"hilite\">Parkinson</em> disease that has_material_basis_in heterozygous triplication of the alpha"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 4, Autosomal Dominant", "autosomal dominant <em class=\"hilite\">Parkinson</em> disease 4", "<em class=\"hilite\">Parkinson</em> disease 4"], "definition_std": ["A late onset <em class=\"hilite\">Parkinson</em> disease that has_material_basis_in heterozygous triplication of the alpha"]}, "NCBIGene:11315": {"synonym_eng": ["<em class=\"hilite\">Parkinsonism</em> associated deglycase", "<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> protein 7"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> protein 7"]}, "NCBIGene:421577": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"]}, "MESH:C564345": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 11"], "synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease type 11"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 11"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease type 11"]}, "OMIM:252010": {"definition_eng": [":535000), and some forms of <em class=\"hilite\">Parkinson</em> disease (see OMIM:556500) ({35:Loeffen et al., 2000}; {44:Pitkanen"], "definition_std": [":535000), and some forms of <em class=\"hilite\">Parkinson</em> disease (see OMIM:556500) ({35:Loeffen et al., 2000}; {44:Pitkanen"]}, "NCBIGene:100073498": {"synonym_eng": ["<em class=\"hilite\">parkinson</em> protein 7"], "synonym_std": ["<em class=\"hilite\">parkinson</em> protein 7"]}, "OMIM:606693": {"label_std": ["<em class=\"hilite\">Parkinson</em> disease 9"], "synonym_eng": ["autosomal recessive <em class=\"hilite\">Parkinson</em> disease 9", "<em class=\"hilite\">Parkinson</em> disease 9", "<em class=\"hilite\">Parkinson</em> Disease 9, Autosomal Recessive, Juvenile-Onset", "autosomal recessive juvenile onset <em class=\"hilite\">Parkinson</em> disease 9", "<em class=\"hilite\">Parkinson</em> Disease 9, Autosomal Recessive"], "synonym_std": ["autosomal recessive <em class=\"hilite\">Parkinson</em> disease 9", "<em class=\"hilite\">Parkinson</em> disease 9", "<em class=\"hilite\">Parkinson</em> Disease 9, Autosomal Recessive, Juvenile-Onset", "autosomal recessive juvenile onset <em class=\"hilite\">Parkinson</em> disease 9", "<em class=\"hilite\">Parkinson</em> Disease 9, Autosomal Recessive"], "definition_eng": [" <em class=\"hilite\">Parkinsonism</em>, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.", "Kufor-Rakeb syndrome is a rare autosomal recessive form of juvenile-onset atypical <em class=\"hilite\">Parkinson</em>", " heterogeneity of <em class=\"hilite\">Parkinson</em> disease (PD), see OMIM:168600.\n\nBiallelic mutation in the ATP13A2 gene also causes", " <em class=\"hilite\">parkinsonism</em>. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting"], "label_eng": ["<em class=\"hilite\">Parkinson</em> disease 9"], "definition_std": ["Kufor-Rakeb syndrome is a rare autosomal recessive form of juvenile-onset atypical <em class=\"hilite\">Parkinson</em>", " heterogeneity of <em class=\"hilite\">Parkinson</em> disease (PD), see OMIM:168600.\n\nBiallelic mutation in the ATP13A2 gene also causes"]}, "OMIM:613643": {"label_std": ["<em class=\"hilite\">Parkinson</em> disease 5", "<em class=\"hilite\">Parkinson</em> Disease 5, Autosomal Dominant, Susceptibility to"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5"], "label_eng": ["<em class=\"hilite\">Parkinson</em> disease 5", "<em class=\"hilite\">Parkinson</em> Disease 5, Autosomal Dominant, Susceptibility to"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5"]}, "NCBIGene:347862": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"]}, "MGI:1355296": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin"]}, "OMIM:194200": {"label_std": ["Wolff-<em class=\"hilite\">Parkinson</em>-White Syndrome", "Wolff-<em class=\"hilite\">Parkinson</em>-White syndrome", "Wolff-<em class=\"hilite\">Parkinson</em>-White pattern"], "synonym_eng": ["Syndrome, Wolf-<em class=\"hilite\">Parkinson</em>-White", "Wolff <em class=\"hilite\">Parkinson</em> White Syndrome", "WOLFF-<em class=\"hilite\">PARKINSON</em>-WHITE SYNDROME", "Wolff-<em class=\"hilite\">Parkinson</em>-White pattern (finding)", "Syndrome, Wolff-<em class=\"hilite\">Parkinson</em>-White", "Wolf <em class=\"hilite\">Parkinson</em> White Syndrome", "Wolf-<em class=\"hilite\">Parkinson</em>-White Syndrome"], "label_eng": ["Wolff-<em class=\"hilite\">Parkinson</em>-White Syndrome", "Wolff-<em class=\"hilite\">Parkinson</em>-White syndrome", "Wolff-<em class=\"hilite\">Parkinson</em>-White pattern"], "synonym_std": ["Syndrome, Wolf-<em class=\"hilite\">Parkinson</em>-White", "Wolff <em class=\"hilite\">Parkinson</em> White Syndrome", "WOLFF-<em class=\"hilite\">PARKINSON</em>-WHITE SYNDROME", "Wolff-<em class=\"hilite\">Parkinson</em>-White pattern (finding)", "Syndrome, Wolff-<em class=\"hilite\">Parkinson</em>-White", "Wolf <em class=\"hilite\">Parkinson</em> White Syndrome", "Wolf-<em class=\"hilite\">Parkinson</em>-White Syndrome"]}, "OMIM:615483": {"definition_eng": [" have motor symptoms, such as dyskinesias or <em class=\"hilite\">parkinsonism</em>, headache, cognitive impairment, and"]}, "OMIM:311510": {"synonym_eng": ["<em class=\"hilite\">Parkinsonism</em>, Early-Onset, With Mental Retardation"], "definition_eng": [" development, intellectual disability, and early-onset <em class=\"hilite\">Parkinson</em> disease (summary by {4:Wilson et al., 2014}).", "Early-onset <em class=\"hilite\">parkinsonism</em> with intellectual deficit is a basal ganglia disorder characterised", " by <em class=\"hilite\">parkinsonian</em>-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual"], "label_eng": ["Early-onset <em class=\"hilite\">parkinsonism</em>-intellectual disability syndrome", "<em class=\"hilite\">Parkinsonism</em>, early onset with mental retardation"], "definition_std": [" development, intellectual disability, and early-onset <em class=\"hilite\">Parkinson</em> disease (summary by {4:Wilson et al., 2014})."]}, "HP:0006150": {"definition_eng": [" example hand trauma or nerve disorders, such as cerebral palsy, <em class=\"hilite\">Parkinson's</em> disease, or stroke."]}, "OMIM:610297": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 13, Autosomal Dominant, Susceptibility to", "<em class=\"hilite\">Parkinson</em> disease 13"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 13, Autosomal Dominant, Susceptibility to", "<em class=\"hilite\">Parkinson</em> disease 13"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13"]}, "NCBIGene:100552437": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"]}, "OMIM:168601": {"label_std": ["<em class=\"hilite\">Parkinson</em> disease 1", "autosomal dominant <em class=\"hilite\">Parkinson</em> disease 1", "<em class=\"hilite\">Parkinson</em> Disease 1, Autosomal Dominant"], "synonym_eng": ["autosomal dominant <em class=\"hilite\">Parkinson</em> disease type 1", "<em class=\"hilite\">Parkinson</em> Disease 1, Autosomal Dominant Lewy Body", "<em class=\"hilite\">PARKINSON</em> DISEASE 1, AUTOSOMAL DOMINANT; PARK1", "Atypical <em class=\"hilite\">Parkinson</em> Disease"], "synonym_std": ["autosomal dominant <em class=\"hilite\">Parkinson</em> disease type 1", "<em class=\"hilite\">Parkinson</em> Disease 1, Autosomal Dominant Lewy Body", "<em class=\"hilite\">PARKINSON</em> DISEASE 1, AUTOSOMAL DOMINANT; PARK1", "Atypical <em class=\"hilite\">Parkinson</em> Disease"], "definition_eng": ["<em class=\"hilite\">Parkinson</em> disease is the second most common neurogenic disorder after Alzheimer disease (AD; OMIM", " et al., 1996}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of <em class=\"hilite\">Parkinson</em>", "A <em class=\"hilite\">Parkinson's</em> disease that has_material_basis_in mutation in the alpha-synuclein (SNCA) gene"], "label_eng": ["<em class=\"hilite\">Parkinson</em> disease 1", "autosomal dominant <em class=\"hilite\">Parkinson</em> disease 1", "<em class=\"hilite\">Parkinson</em> Disease 1, Autosomal Dominant"], "definition_std": ["<em class=\"hilite\">Parkinson</em> disease is the second most common neurogenic disorder after Alzheimer disease (AD; OMIM", "., 1996}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of <em class=\"hilite\">Parkinson</em>"]}, "OMIM:614298": {"definition_eng": [" neurodegenerative disorder characterized by progressive spastic paraplegia, <em class=\"hilite\">parkinsonism</em> unresponsive to L-DOPA"]}, "OMIM:616840": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 23, Autosomal Recessive Early-Onset", "<em class=\"hilite\">Parkinson</em> disease 23, autosomal recessive early-onset"], "synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease 23, Autosomal Recessive Early-Onset", "<em class=\"hilite\">PARKINSON</em> DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK23"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease 23, Autosomal Recessive Early-Onset", "<em class=\"hilite\">PARKINSON</em> DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK23"], "definition_eng": ["<em class=\"hilite\">Parkinson</em> disease-23 is a progressive neurodegenerative disorder characterized by young-adult onset", " of <em class=\"hilite\">parkinsonism</em> associated with progressive cognitive impairment leading to dementia and dysautonomia. Some", "An early-onset <em class=\"hilite\">Parkinson</em> disease that has_material_basis_in homozygous or compound heterozygous"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 23, Autosomal Recessive Early-Onset", "<em class=\"hilite\">Parkinson</em> disease 23, autosomal recessive early-onset"], "definition_std": ["<em class=\"hilite\">Parkinson</em> disease-23 is a progressive neurodegenerative disorder characterized by young-adult onset", "An early-onset <em class=\"hilite\">Parkinson</em> disease that has_material_basis_in homozygous or compound heterozygous"]}, "OMIM:258450": {"definition_eng": [", hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and <em class=\"hilite\">parkinsonism</em>. Less common"]}, "OMIM:612953": {"label_std": ["autosomal recessive <em class=\"hilite\">Parkinson</em> disease 14", "<em class=\"hilite\">Parkinson</em> disease 14", "<em class=\"hilite\">Parkinson</em> Disease 14, Autosomal Recessive"], "synonym_eng": ["autosomal recessive <em class=\"hilite\">Parkinson</em> disease type 14", "PLA2G6-related dystonia-<em class=\"hilite\">parkinsonism</em>", "<em class=\"hilite\">PARKINSON</em> DISEASE 14, AUTOSOMAL RECESSIVE; PARK14", "Dystonia-<em class=\"hilite\">parkinsonism</em>, Paisan-Ruiz type", "Dystonia-<em class=\"hilite\">Parkinsonism</em>, Adult-Onset"], "definition_eng": ["Adult-onset dystonia-<em class=\"hilite\">parkinsonism</em> is a rare neurodegenerative disease usually presenting before the", " age of 30 and which is characterized by dystonia, L-dopa-responsive <em class=\"hilite\">parkinsonism</em>, pyramidal signs and"], "label_eng": ["autosomal recessive <em class=\"hilite\">Parkinson</em> disease 14", "<em class=\"hilite\">Parkinson</em> disease 14", "<em class=\"hilite\">Parkinson</em> Disease 14, Autosomal Recessive"], "synonym_std": ["autosomal recessive <em class=\"hilite\">Parkinson</em> disease type 14", "<em class=\"hilite\">PARKINSON</em> DISEASE 14, AUTOSOMAL RECESSIVE; PARK14"]}, "OMIM:613280": {"synonym_eng": ["<em class=\"hilite\">Parkinsonism</em> and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease", "Dystonia-<em class=\"hilite\">Parkinsonism</em>, Hypermanganesemia, Polycythemia, and Chronic Liver Disease"]}, "NCBIGene:100030192": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"]}, "NCBIGene:5071": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)", "<em class=\"hilite\">parkinson</em> juvenile disease protein 2", "<em class=\"hilite\">parkinson</em> protein 2 E3 ubiquitin protein ligase"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)", "<em class=\"hilite\">parkinson</em> juvenile disease protein 2", "<em class=\"hilite\">parkinson</em> protein 2 E3 ubiquitin protein ligase"]}, "Orphanet:391411": {"definition_eng": ["Atypical juvenile <em class=\"hilite\">parkinsonism</em> (AJP) is a complex form of young-onset <em class=\"hilite\">Parkinson</em> disease (YOPD; see", " other neurological symptoms (such as ataxia and epilepsy) along with classical <em class=\"hilite\">parkinsonian</em> symptoms."], "label_eng": ["Atypical juvenile <em class=\"hilite\">parkinsonism</em>"], "definition_std": ["Atypical juvenile parkinsonism (AJP) is a complex form of young-onset <em class=\"hilite\">Parkinson</em> disease (YOPD; see"]}, "OMIA:001194-9913": {"label_std": ["Wolff-<em class=\"hilite\">Parkinson</em>-White syndrome in cattle"], "label_eng": ["Wolff-<em class=\"hilite\">Parkinson</em>-White syndrome in cattle"]}, "GeneReviews:NBK1115": {"definition_eng": ["The spectrum of ATP1A3-related neurologic disorders includes rapid-onset dystonia-<em class=\"hilite\">parkinsonism</em> (RDP", " as well.RDP is characterized by abrupt onset of dystonia with <em class=\"hilite\">parkinsonism</em> (primarily bradykinesia and", ", <em class=\"hilite\">parkinsonism</em>, and cognitive and behavioral dysfunction; more than 50% develop epilepsy in addition to their"]}, "HP:0002548": {"definition_eng": ["<em class=\"hilite\">Parkinsonism</em> is a clinical syndrome that is a feature of a number of different diseases, including", " <em class=\"hilite\">Parkinson</em> disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and", " as a side-effect of some neuroleptic medications. Some but not all individuals with <em class=\"hilite\">Parkinsonism</em> show", " signs of <em class=\"hilite\">Parkinsonism</em> (including mainly tremor, bradykinesia, rigidity, and postural instability) upon"], "label_eng": ["<em class=\"hilite\">Parkinsonism</em> with favorable response to dopaminergic medication"], "definition_std": [" <em class=\"hilite\">Parkinson</em> disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a"]}, "Orphanet:306686": {"synonym_eng": ["CO-induced <em class=\"hilite\">parkinsonism</em>"], "label_eng": ["Carbon monoxide-induced <em class=\"hilite\">parkinsonism</em>"]}, "OMIM:617013": {"definition_eng": [" variable features of <em class=\"hilite\">parkinsonism</em>, causing loss of ambulation. Cognition may be impaired, but is better"]}, "KEGG-ds:H01600": {"label_eng": ["<em class=\"hilite\">Parkinsonian</em> syndrome"]}, "MESH:C566823": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease, Familial, Type 1"], "synonym_eng": ["Lewy Body <em class=\"hilite\">Parkinsonism</em>", "<em class=\"hilite\">Parkinson</em> Disease, Autosomal Dominant", "Atypical <em class=\"hilite\">Parkinson</em> Disease"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease, Familial, Type 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease, Autosomal Dominant", "Atypical <em class=\"hilite\">Parkinson</em> Disease"]}, "NCBIGene:530858": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"]}, "DOID:4751": {"definition_eng": [" by <em class=\"hilite\">Parkinsonian</em> features (e.g., MUSCLE RIGIDITY; HYPOKINESIA; stooped posture) and HYPOTENSION. This condition"]}, "OMIM:600116": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 2, Autosomal Recessive Juvenile", "<em class=\"hilite\">Parkinson</em> disease 2", "autosomal recessive juvenile <em class=\"hilite\">Parkinson</em> disease 2"], "synonym_eng": ["<em class=\"hilite\">Parkinsonism</em>, Early-Onset, With Diurnal Fluctuation", "<em class=\"hilite\">PARKINSON</em> DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2", "<em class=\"hilite\">Parkinson</em> Disease, Juvenile, Autosomal Recessive", "autosomal recessive juvenile <em class=\"hilite\">Parkinson</em> disease type 2"], "definition_eng": ["A <em class=\"hilite\">Parkinson's</em> disease that has_material_basis_in mutation in the parkin gene (PARK2) on chromosome"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 2, Autosomal Recessive Juvenile", "<em class=\"hilite\">Parkinson</em> disease 2", "autosomal recessive juvenile <em class=\"hilite\">Parkinson</em> disease 2"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2", "<em class=\"hilite\">Parkinson</em> Disease, Juvenile, Autosomal Recessive", "autosomal recessive juvenile <em class=\"hilite\">Parkinson</em> disease type 2"]}, "EFO:0002508": {"label_eng": ["<em class=\"hilite\">Parkinson's</em> disease"]}, "NCBIGene:101078161": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1-like"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1-like"]}, "NCBIGene:740015": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"]}, "GeneReviews:NBK1529": {"definition_eng": [" despite increase in food intake. Neurologic abnormalities include <em class=\"hilite\">parkinsonism</em> (rigidity, bradykinesia"]}, "HP:0100595": {"definition_eng": [" of <em class=\"hilite\">Parkinson's</em> disease and dystonic disorders."]}, "NCBIGene:101098228": {"synonym_eng": ["<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"], "synonym_std": ["<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"]}, "NCBIGene:100511802": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"]}, "NCBIGene:746063": {"synonym_eng": ["<em class=\"hilite\">Parkinsonism</em> associated deglycase", "<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> protein 7"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> protein 7"]}, "HP:0002322": {"synonym_eng": ["<em class=\"hilite\">Parkinsonian</em> tremor"]}, "NCBIGene:423020": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"]}, "OMIM:127750": {"definition_eng": [" by dementia and <em class=\"hilite\">parkinsonism</em>, often with fluctuating cognitive function, visual hallucinations, falls", " in a pattern more widespread than usually observed in <em class=\"hilite\">Parkinson</em> disease (see PD; OMIM:168600). Alzheimer"], "definition_std": [" pattern more widespread than usually observed in <em class=\"hilite\">Parkinson</em> disease (see PD; OMIM:168600). Alzheimer"]}, "OMIM:146500": {"definition_eng": [" as a progressive adult-onset neurodegenerative disorder causing <em class=\"hilite\">parkinsonism</em>, cerebellar ataxia, and autonomic", " C,' characterized predominantly by cerebellar ataxia, and 'subtype P,' characterized predominantly by <em class=\"hilite\">parkinsonism</em>", " to <em class=\"hilite\">Parkinson</em> disease (PD; OMIM:168600) and Lewy body dementia (OMIM:127750). See also PARK1 (OMIM:168601"], "definition_std": [" pathologically to <em class=\"hilite\">Parkinson</em> disease (PD; OMIM:168600) and Lewy body dementia (OMIM:127750). See also PARK1 (OMIM"]}, "Orphanet:352649": {"definition_eng": [" neurometabolic disease characterized by dystonia, <em class=\"hilite\">parkinsonism</em>, nonambulation, autonomic dysfunction"]}, "OMIM:617070": {"definition_eng": ["/or <em class=\"hilite\">parkinsonism</em>."]}, "MESH:D014202": {"definition_eng": [" as a relatively frequent manifestation of <em class=\"hilite\">PARKINSON</em> DISEASE."], "definition_std": [", and occurs as a relatively frequent manifestation of <em class=\"hilite\">PARKINSON</em> DISEASE."]}, "OMIM:606159": {"definition_eng": [" in extrapyramidal movements, such as <em class=\"hilite\">parkinsonism</em> and dystonia. Age at onset, cognitive involvement, and mode"]}, "GeneReviews:NBK304122": {"definition_eng": [" include <em class=\"hilite\">parkinsonian</em> signs (tremor, bradykinesia, masked facies, rigidity), limb hypertonia, hyperreflexia"]}, "OMIM:105500": {"synonym_eng": ["Amyotrophic lateral sclerosis-<em class=\"hilite\">parkinsonism</em>-dementia of Guam syndrome", "Amyotrophic Lateral Sclerosis-<em class=\"hilite\">Parkinsonism</em>/Dementia Complex of Guam", "Amyotrophic Lateral Sclerosis-<em class=\"hilite\">Parkinsonism</em>/Dementia Complex type 1", "AMYOTROPHIC LATERAL SCLEROSIS-<em class=\"hilite\">PARKINSONISM</em>/DEMENTIA COMPLEX 1", "<em class=\"hilite\">Parkinsonism</em>-dementia-ALS complex"], "definition_eng": ["Amyotrophic lateral sclerosis-<em class=\"hilite\">parkinsonism</em>/dementia complex of Guam is a neurodengenerative", " disorder with unusually high incidence among the Chamorro people of Guam. Both ALS and <em class=\"hilite\">parkinsonism</em>"], "label_eng": ["Amyotrophic Lateral Sclerosis-<em class=\"hilite\">Parkinsonism</em>/Dementia Complex 1", "Amyotrophic lateral sclerosis-<em class=\"hilite\">parkinsonism</em>-dementia complex"]}}, "docs": [{"synonym": ["Parkinson Disease, Post Encephalitic", "Postencephalitic Economo-Type Parkinsonism", "Parkinson Disease, Post-Encephalitic", "Parkinsonisms, Viral Meningoencephalitic", "Parkinsonism, Postencephalitic Economo-Type", "Economo-Type Parkinsonism, Postencephalitic", "Postencephalitic Parkinson Disease", "von Economo Encephalitis Type Parkinsonism", "Parkinsonism, Viral Meningoencephalitic", "Postencephalitic Parkinsonism", "Post-Encephalitic Parkinson Disease", "Post Encephalitic Parkinson Disease", "Meningoencephalitic Parkinsonism, Viral", "Postencephalitic Economo Type Parkinsonism", "Postencephalitic parkinsonism", "Postencephalitic parkinsonism (disorder)", "Postencephalitis Parkinsonian Syndrome", "Parkinsonism, Postencephalitic", "Parkinsonian Syndrome, Postencephalitis", "Viral Meningoencephalitic Parkinsonism", "Encephalitis Lethargica Type Parkinsonism"], "equivalent_curie_eng": ["UMLS:C0030568", "Orphanet:97349", "MESH:D010301"], "leaf": true, "category_std": ["disease"], "id_std": "DOID:14332", "iri": "http://purl.obolibrary.org/obo/DOID_14332", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C0030568", "http://www.orpha.net/ORDO/Orphanet_97349", "http://purl.obolibrary.org/obo/MESH_D010301"], "label_eng": ["postencephalitic Parkinson disease"], "definition_std": ["Parkinsonism following encephalitis, historically seen as a sequella of encephalitis lethargica (Von Economo Encephalitis). The early age of onset, the rapid progression of symptoms followed by stabilization, and the presence of a variety of other neurological disorders (e.g., sociopathic behavior; TICS; MUSCLE SPASMS; oculogyric crises; hyperphagia; and bizarre movements) distinguish this condition from primary PARKINSON DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the MESENCEPHALON; SUBTHALAMUS; and HYPOTHALAMUS. (From Adams et al., Principles of Neurology, 6th ed, p754)"], "id_eng": "DOID:14332", "definition_kw": ["Parkinsonism following encephalitis, historically seen as a sequella of encephalitis lethargica (Von Economo Encephalitis). The early age of onset, the rapid progression of symptoms followed by stabilization, and the presence of a variety of other neurological disorders (e.g., sociopathic behavior; TICS; MUSCLE SPASMS; oculogyric crises; hyperphagia; and bizarre movements) distinguish this condition from primary PARKINSON DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the MESENCEPHALON; SUBTHALAMUS; and HYPOTHALAMUS. (From Adams et al., Principles of Neurology, 6th ed, p754)"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C0030568", "http://www.orpha.net/ORDO/Orphanet_97349", "http://purl.obolibrary.org/obo/MESH_D010301"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/DOID_14332", "label_std": ["postencephalitic Parkinson disease"], "equivalent_curie": ["UMLS:C0030568", "Orphanet:97349", "MESH:D010301"], "equivalent_curie_kw": ["UMLS:C0030568", "Orphanet:97349", "MESH:D010301"], "synonym_eng": ["Parkinson Disease, Post Encephalitic", "Postencephalitic Economo-Type Parkinsonism", "Parkinson Disease, Post-Encephalitic", "Parkinsonisms, Viral Meningoencephalitic", "Parkinsonism, Postencephalitic Economo-Type", "Economo-Type Parkinsonism, Postencephalitic", "Postencephalitic Parkinson Disease", "von Economo Encephalitis Type Parkinsonism", "Parkinsonism, Viral Meningoencephalitic", "Postencephalitic Parkinsonism", "Post-Encephalitic Parkinson Disease", "Post Encephalitic Parkinson Disease", "Meningoencephalitic Parkinsonism, Viral", "Postencephalitic Economo Type Parkinsonism", "Postencephalitic parkinsonism", "Postencephalitic parkinsonism (disorder)", "Postencephalitis Parkinsonian Syndrome", "Parkinsonism, Postencephalitic", "Parkinsonian Syndrome, Postencephalitis", "Viral Meningoencephalitic Parkinsonism", "Encephalitis Lethargica Type Parkinsonism"], "score": 33.50224, "id_kw": "DOID:14332", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C0030568", "http://www.orpha.net/ORDO/Orphanet_97349", "http://purl.obolibrary.org/obo/MESH_D010301"], "label_kw": ["postencephalitic Parkinson disease"], "iri_kw": "http://purl.obolibrary.org/obo/DOID_14332", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C0030568", "http://www.orpha.net/ORDO/Orphanet_97349", "http://purl.obolibrary.org/obo/MESH_D010301"], "_version_": 1580845594429095936, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/DOID_14332", "id": "DOID:14332", "definition": ["Parkinsonism following encephalitis, historically seen as a sequella of encephalitis lethargica (Von Economo Encephalitis). The early age of onset, the rapid progression of symptoms followed by stabilization, and the presence of a variety of other neurological disorders (e.g., sociopathic behavior; TICS; MUSCLE SPASMS; oculogyric crises; hyperphagia; and bizarre movements) distinguish this condition from primary PARKINSON DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the MESENCEPHALON; SUBTHALAMUS; and HYPOTHALAMUS. (From Adams et al., Principles of Neurology, 6th ed, p754)"], "synonym_kw": ["Parkinson Disease, Post Encephalitic", "Postencephalitic Economo-Type Parkinsonism", "Parkinson Disease, Post-Encephalitic", "Parkinsonisms, Viral Meningoencephalitic", "Parkinsonism, Postencephalitic Economo-Type", "Economo-Type Parkinsonism, Postencephalitic", "Postencephalitic Parkinson Disease", "von Economo Encephalitis Type Parkinsonism", "Parkinsonism, Viral Meningoencephalitic", "Postencephalitic Parkinsonism", "Post-Encephalitic Parkinson Disease", "Post Encephalitic Parkinson Disease", "Meningoencephalitic Parkinsonism, Viral", "Postencephalitic Economo Type Parkinsonism", "Postencephalitic parkinsonism", "Postencephalitic parkinsonism (disorder)", "Postencephalitis Parkinsonian Syndrome", "Parkinsonism, Postencephalitic", "Parkinsonian Syndrome, Postencephalitis", "Viral Meningoencephalitic Parkinsonism", "Encephalitis Lethargica Type Parkinsonism"], "synonym_std": ["Parkinson Disease, Post Encephalitic", "Postencephalitic Economo-Type Parkinsonism", "Parkinson Disease, Post-Encephalitic", "Parkinsonisms, Viral Meningoencephalitic", "Parkinsonism, Postencephalitic Economo-Type", "Economo-Type Parkinsonism, Postencephalitic", "Postencephalitic Parkinson Disease", "von Economo Encephalitis Type Parkinsonism", "Parkinsonism, Viral Meningoencephalitic", "Postencephalitic Parkinsonism", "Post-Encephalitic Parkinson Disease", "Post Encephalitic Parkinson Disease", "Meningoencephalitic Parkinsonism, Viral", "Postencephalitic Economo Type Parkinsonism", "Postencephalitic parkinsonism", "Postencephalitic parkinsonism (disorder)", "Postencephalitis Parkinsonian Syndrome", "Parkinsonism, Postencephalitic", "Parkinsonian Syndrome, Postencephalitis", "Viral Meningoencephalitic Parkinsonism", "Encephalitis Lethargica Type Parkinsonism"], "label": ["postencephalitic Parkinson disease"], "definition_eng": ["Parkinsonism following encephalitis, historically seen as a sequella of encephalitis lethargica (Von Economo Encephalitis). The early age of onset, the rapid progression of symptoms followed by stabilization, and the presence of a variety of other neurological disorders (e.g., sociopathic behavior; TICS; MUSCLE SPASMS; oculogyric crises; hyperphagia; and bizarre movements) distinguish this condition from primary PARKINSON DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the MESENCEPHALON; SUBTHALAMUS; and HYPOTHALAMUS. (From Adams et al., Principles of Neurology, 6th ed, p754)"], "equivalent_curie_std": ["UMLS:C0030568", "Orphanet:97349", "MESH:D010301"], "category": ["disease"]}, {"synonym": ["Primary Parkinsonism", "Idiopathic Parkinson's Disease", "Parkinson disease", "Paralysis Agitans", "paralysis agitans", "Parkinson's Disease", "Lewy Body Parkinson Disease", "Parkinson Disease, Idiopathic", "Parkinson's Disease, Idiopathic", "Parkinsonism, Primary", "Parkinson's Disease, Lewy Body", "Idiopathic Parkinson Disease", "Lewy Body Parkinson's Disease"], "equivalent_curie_eng": ["UMLS:CN239381", "UMLS:C0030567", "MESH:D010300"], "leaf": false, "category_std": ["disease"], "id_std": "DOID:14330", "iri": "http://purl.obolibrary.org/obo/DOID_14330", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_CN239381", "http://purl.obolibrary.org/obo/UMLS_C0030567", "http://purl.obolibrary.org/obo/MESH_D010300"], "label_eng": ["Parkinson's disease"], "definition_std": ["A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions."], "id_eng": "DOID:14330", "definition_kw": ["A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_CN239381", "http://purl.obolibrary.org/obo/UMLS_C0030567", "http://purl.obolibrary.org/obo/MESH_D010300"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/DOID_14330", "label_std": ["Parkinson's disease"], "equivalent_curie": ["UMLS:CN239381", "UMLS:C0030567", "MESH:D010300"], "equivalent_curie_kw": ["UMLS:CN239381", "UMLS:C0030567", "MESH:D010300"], "synonym_eng": ["Primary Parkinsonism", "Idiopathic Parkinson's Disease", "Parkinson disease", "Paralysis Agitans", "paralysis agitans", "Parkinson's Disease", "Lewy Body Parkinson Disease", "Parkinson Disease, Idiopathic", "Parkinson's Disease, Idiopathic", "Parkinsonism, Primary", "Parkinson's Disease, Lewy Body", "Idiopathic Parkinson Disease", "Lewy Body Parkinson's Disease"], "score": 33.312695, "id_kw": "DOID:14330", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_CN239381", "http://purl.obolibrary.org/obo/UMLS_C0030567", "http://purl.obolibrary.org/obo/MESH_D010300"], "label_kw": ["Parkinson's disease"], "iri_kw": "http://purl.obolibrary.org/obo/DOID_14330", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_CN239381", "http://purl.obolibrary.org/obo/UMLS_C0030567", "http://purl.obolibrary.org/obo/MESH_D010300"], "_version_": 1580845584178216963, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/DOID_14330", "id": "DOID:14330", "definition": ["A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions."], "synonym_kw": ["Primary Parkinsonism", "Idiopathic Parkinson's Disease", "Parkinson disease", "Paralysis Agitans", "paralysis agitans", "Parkinson's Disease", "Lewy Body Parkinson Disease", "Parkinson Disease, Idiopathic", "Parkinson's Disease, Idiopathic", "Parkinsonism, Primary", "Parkinson's Disease, Lewy Body", "Idiopathic Parkinson Disease", "Lewy Body Parkinson's Disease"], "synonym_std": ["Primary Parkinsonism", "Idiopathic Parkinson's Disease", "Parkinson disease", "Paralysis Agitans", "paralysis agitans", "Parkinson's Disease", "Lewy Body Parkinson Disease", "Parkinson Disease, Idiopathic", "Parkinson's Disease, Idiopathic", "Parkinsonism, Primary", "Parkinson's Disease, Lewy Body", "Idiopathic Parkinson Disease", "Lewy Body Parkinson's Disease"], "label": ["Parkinson's disease"], "definition_eng": ["A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions."], "equivalent_curie_std": ["UMLS:CN239381", "UMLS:C0030567", "MESH:D010300"], "category": ["disease"]}, {"synonym": ["Juvenile Parkinson Disease, Autosomal Recessive", "Autosomal Recesssive Juvenile Parkinsonism", "Juvenile Parkinson Disease", "Parkinson Disease, Familial, Autosomal Recessive", "Parkinsonism, Autosomal Recessive", "Parkinsonism, Early Onset, with Diurnal Fluctuation", "Parkinson Disease, Juvenile", "Parkinsonism, Juvenile, Autosomal Recessive", "Experimental Parkinsonism, MPTP Induced", "Parkinson Disease 2", "Experimental Parkinson Diseases", "Chromosome 6 Linked Autosomal Recessive Parkinsonism", "Parkinsonian Diseases", "Juvenile Parkinson Disease, Autosomal Dominant", "Autosomal Dominant Parkinsonism", "Parkinson Disease, Experimental", "Diseases, Experimental Parkinson", "Juvenile Parkinsonism, Familial", "Parkinsonism, Juvenile, Autosomal Dominant", "Parkinson Disease, Autosomal Dominant. Juvenile", "Parkinsonian Syndromes", "Parkinson Diseases, Experimental", "Autosomal Recessive Parkinsonism", "Juvenile Parkinsonism, Autosomal Recessive", "Parkinson Disease, Juvenile, Autosomal Dominant", "Parkinsonism, Early-Onset, With Diurnal Fluctuation", "Parkinson Disease 2, Autosomal Recessive Juvenile", "Parkinsonisms, Experimental", "Parkinson Disease Autosomal Recessive, Early Onset", "Parkinsonism, Juvenile", "Autosomal Dominant Juvenile Parkinsonism", "Familial Juvenile Parkinsonism", "Juvenile Parkinsonisms", "Dominant Parkinsonism, Autosomal", "Parkinson Disease, Juvenile, Autosomal Recessive", "Parkinsonism, MPTP-Induced Experimental", "Chromosome 6-Linked Autosomal Recessive Parkinsonism", "Juvenile Parkinsonism, Autosomal Dominant", "Parkinsonism, Familial Juvenile", "MPTP Induced Experimental Parkinsonism", "Parkinsonism, Autosomal Dominant", "Familial Parkinson Disease, Autosomal Recessive", "Parkinsonism, Experimental", "Ramsay Hunt Paralysis Syndrome", "Experimental Parkinsonism, MPTP-Induced", "Experimental Parkinson Disease", "Parkinsonian Syndrome", "Recessive Parkinsonism, Autosomal", "Juvenile Parkinsonism", "Experimental Parkinsonism", "Autosomal Dominant Juvenile Parkinson Disease", "Parkinsonism", "Parkinsonisms, Juvenile", "Experimental Parkinsonisms", "MPTP-Induced Experimental Parkinsonism", "Autosomal Recessive Juvenile Parkinson Disease"], "equivalent_curie_eng": ["UMLS:CN227567", "UMLS:C0242422"], "leaf": false, "category_std": ["disease"], "id_std": "MESH:D020734", "iri": "http://purl.obolibrary.org/obo/MESH_D020734", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_CN227567", "http://purl.obolibrary.org/obo/UMLS_C0242422"], "label_eng": ["Parkinsonian Disorders"], "definition_std": ["A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA."], "id_eng": "MESH:D020734", "definition_kw": ["A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_CN227567", "http://purl.obolibrary.org/obo/UMLS_C0242422"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/MESH_D020734", "label_std": ["Parkinsonian Disorders"], "equivalent_curie": ["UMLS:CN227567", "UMLS:C0242422"], "equivalent_curie_kw": ["UMLS:CN227567", "UMLS:C0242422"], "synonym_eng": ["Juvenile Parkinson Disease, Autosomal Recessive", "Autosomal Recesssive Juvenile Parkinsonism", "Juvenile Parkinson Disease", "Parkinson Disease, Familial, Autosomal Recessive", "Parkinsonism, Autosomal Recessive", "Parkinsonism, Early Onset, with Diurnal Fluctuation", "Parkinson Disease, Juvenile", "Parkinsonism, Juvenile, Autosomal Recessive", "Experimental Parkinsonism, MPTP Induced", "Parkinson Disease 2", "Experimental Parkinson Diseases", "Chromosome 6 Linked Autosomal Recessive Parkinsonism", "Parkinsonian Diseases", "Juvenile Parkinson Disease, Autosomal Dominant", "Autosomal Dominant Parkinsonism", "Parkinson Disease, Experimental", "Diseases, Experimental Parkinson", "Juvenile Parkinsonism, Familial", "Parkinsonism, Juvenile, Autosomal Dominant", "Parkinson Disease, Autosomal Dominant. Juvenile", "Parkinsonian Syndromes", "Parkinson Diseases, Experimental", "Autosomal Recessive Parkinsonism", "Juvenile Parkinsonism, Autosomal Recessive", "Parkinson Disease, Juvenile, Autosomal Dominant", "Parkinsonism, Early-Onset, With Diurnal Fluctuation", "Parkinson Disease 2, Autosomal Recessive Juvenile", "Parkinsonisms, Experimental", "Parkinson Disease Autosomal Recessive, Early Onset", "Parkinsonism, Juvenile", "Autosomal Dominant Juvenile Parkinsonism", "Familial Juvenile Parkinsonism", "Juvenile Parkinsonisms", "Dominant Parkinsonism, Autosomal", "Parkinson Disease, Juvenile, Autosomal Recessive", "Parkinsonism, MPTP-Induced Experimental", "Chromosome 6-Linked Autosomal Recessive Parkinsonism", "Juvenile Parkinsonism, Autosomal Dominant", "Parkinsonism, Familial Juvenile", "MPTP Induced Experimental Parkinsonism", "Parkinsonism, Autosomal Dominant", "Familial Parkinson Disease, Autosomal Recessive", "Parkinsonism, Experimental", "Ramsay Hunt Paralysis Syndrome", "Experimental Parkinsonism, MPTP-Induced", "Experimental Parkinson Disease", "Parkinsonian Syndrome", "Recessive Parkinsonism, Autosomal", "Juvenile Parkinsonism", "Experimental Parkinsonism", "Autosomal Dominant Juvenile Parkinson Disease", "Parkinsonism", "Parkinsonisms, Juvenile", "Experimental Parkinsonisms", "MPTP-Induced Experimental Parkinsonism", "Autosomal Recessive Juvenile Parkinson Disease"], "score": 33.24732, "id_kw": "MESH:D020734", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_CN227567", "http://purl.obolibrary.org/obo/UMLS_C0242422"], "label_kw": ["Parkinsonian Disorders"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_D020734", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_CN227567", "http://purl.obolibrary.org/obo/UMLS_C0242422"], "_version_": 1580845554421727232, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/MESH_D020734", "id": "MESH:D020734", "definition": ["A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA."], "synonym_kw": ["Juvenile Parkinson Disease, Autosomal Recessive", "Autosomal Recesssive Juvenile Parkinsonism", "Juvenile Parkinson Disease", "Parkinson Disease, Familial, Autosomal Recessive", "Parkinsonism, Autosomal Recessive", "Parkinsonism, Early Onset, with Diurnal Fluctuation", "Parkinson Disease, Juvenile", "Parkinsonism, Juvenile, Autosomal Recessive", "Experimental Parkinsonism, MPTP Induced", "Parkinson Disease 2", "Experimental Parkinson Diseases", "Chromosome 6 Linked Autosomal Recessive Parkinsonism", "Parkinsonian Diseases", "Juvenile Parkinson Disease, Autosomal Dominant", "Autosomal Dominant Parkinsonism", "Parkinson Disease, Experimental", "Diseases, Experimental Parkinson", "Juvenile Parkinsonism, Familial", "Parkinsonism, Juvenile, Autosomal Dominant", "Parkinson Disease, Autosomal Dominant. Juvenile", "Parkinsonian Syndromes", "Parkinson Diseases, Experimental", "Autosomal Recessive Parkinsonism", "Juvenile Parkinsonism, Autosomal Recessive", "Parkinson Disease, Juvenile, Autosomal Dominant", "Parkinsonism, Early-Onset, With Diurnal Fluctuation", "Parkinson Disease 2, Autosomal Recessive Juvenile", "Parkinsonisms, Experimental", "Parkinson Disease Autosomal Recessive, Early Onset", "Parkinsonism, Juvenile", "Autosomal Dominant Juvenile Parkinsonism", "Familial Juvenile Parkinsonism", "Juvenile Parkinsonisms", "Dominant Parkinsonism, Autosomal", "Parkinson Disease, Juvenile, Autosomal Recessive", "Parkinsonism, MPTP-Induced Experimental", "Chromosome 6-Linked Autosomal Recessive Parkinsonism", "Juvenile Parkinsonism, Autosomal Dominant", "Parkinsonism, Familial Juvenile", "MPTP Induced Experimental Parkinsonism", "Parkinsonism, Autosomal Dominant", "Familial Parkinson Disease, Autosomal Recessive", "Parkinsonism, Experimental", "Ramsay Hunt Paralysis Syndrome", "Experimental Parkinsonism, MPTP-Induced", "Experimental Parkinson Disease", "Parkinsonian Syndrome", "Recessive Parkinsonism, Autosomal", "Juvenile Parkinsonism", "Experimental Parkinsonism", "Autosomal Dominant Juvenile Parkinson Disease", "Parkinsonism", "Parkinsonisms, Juvenile", "Experimental Parkinsonisms", "MPTP-Induced Experimental Parkinsonism", "Autosomal Recessive Juvenile Parkinson Disease"], "synonym_std": ["Juvenile Parkinson Disease, Autosomal Recessive", "Autosomal Recesssive Juvenile Parkinsonism", "Juvenile Parkinson Disease", "Parkinson Disease, Familial, Autosomal Recessive", "Parkinsonism, Autosomal Recessive", "Parkinsonism, Early Onset, with Diurnal Fluctuation", "Parkinson Disease, Juvenile", "Parkinsonism, Juvenile, Autosomal Recessive", "Experimental Parkinsonism, MPTP Induced", "Parkinson Disease 2", "Experimental Parkinson Diseases", "Chromosome 6 Linked Autosomal Recessive Parkinsonism", "Parkinsonian Diseases", "Juvenile Parkinson Disease, Autosomal Dominant", "Autosomal Dominant Parkinsonism", "Parkinson Disease, Experimental", "Diseases, Experimental Parkinson", "Juvenile Parkinsonism, Familial", "Parkinsonism, Juvenile, Autosomal Dominant", "Parkinson Disease, Autosomal Dominant. Juvenile", "Parkinsonian Syndromes", "Parkinson Diseases, Experimental", "Autosomal Recessive Parkinsonism", "Juvenile Parkinsonism, Autosomal Recessive", "Parkinson Disease, Juvenile, Autosomal Dominant", "Parkinsonism, Early-Onset, With Diurnal Fluctuation", "Parkinson Disease 2, Autosomal Recessive Juvenile", "Parkinsonisms, Experimental", "Parkinson Disease Autosomal Recessive, Early Onset", "Parkinsonism, Juvenile", "Autosomal Dominant Juvenile Parkinsonism", "Familial Juvenile Parkinsonism", "Juvenile Parkinsonisms", "Dominant Parkinsonism, Autosomal", "Parkinson Disease, Juvenile, Autosomal Recessive", "Parkinsonism, MPTP-Induced Experimental", "Chromosome 6-Linked Autosomal Recessive Parkinsonism", "Juvenile Parkinsonism, Autosomal Dominant", "Parkinsonism, Familial Juvenile", "MPTP Induced Experimental Parkinsonism", "Parkinsonism, Autosomal Dominant", "Familial Parkinson Disease, Autosomal Recessive", "Parkinsonism, Experimental", "Ramsay Hunt Paralysis Syndrome", "Experimental Parkinsonism, MPTP-Induced", "Experimental Parkinson Disease", "Parkinsonian Syndrome", "Recessive Parkinsonism, Autosomal", "Juvenile Parkinsonism", "Experimental Parkinsonism", "Autosomal Dominant Juvenile Parkinson Disease", "Parkinsonism", "Parkinsonisms, Juvenile", "Experimental Parkinsonisms", "MPTP-Induced Experimental Parkinsonism", "Autosomal Recessive Juvenile Parkinson Disease"], "label": ["Parkinsonian Disorders"], "definition_eng": ["A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA."], "equivalent_curie_std": ["UMLS:CN227567", "UMLS:C0242422"], "category": ["disease"]}, {"synonym": ["Parkinson Disease type 17", "autosomal dominant Parkinson disease 17", "PARK17", "Parkinson disease type 17", "PARKINSON DISEASE 17; PARK17"], "equivalent_curie_eng": ["UMLS:C3280133", "DOID:0060897"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:614203", "iri": "http://purl.obolibrary.org/obo/OMIM_614203", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3280133", "http://purl.obolibrary.org/obo/DOID_0060897"], "label_eng": ["Parkinson Disease 17", "Parkinson disease 17"], "definition_std": ["A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13.", "Parkinson disease-17 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by {7:Wider et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see OMIM:168600."], "id_eng": "OMIM:614203", "definition_kw": ["A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13.", "Parkinson disease-17 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by {7:Wider et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see OMIM:168600."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3280133", "http://purl.obolibrary.org/obo/DOID_0060897"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_614203", "label_std": ["Parkinson Disease 17", "Parkinson disease 17"], "equivalent_curie": ["UMLS:C3280133", "DOID:0060897"], "equivalent_curie_kw": ["UMLS:C3280133", "DOID:0060897"], "synonym_eng": ["Parkinson Disease type 17", "autosomal dominant Parkinson disease 17", "PARK17", "Parkinson disease type 17", "PARKINSON DISEASE 17; PARK17"], "score": 31.906723, "id_kw": "OMIM:614203", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3280133", "http://purl.obolibrary.org/obo/DOID_0060897"], "label_kw": ["Parkinson Disease 17", "Parkinson disease 17"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_614203", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3280133", "http://purl.obolibrary.org/obo/DOID_0060897"], "_version_": 1580845511354613761, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_614203", "id": "OMIM:614203", "definition": ["A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13.", "Parkinson disease-17 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by {7:Wider et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see OMIM:168600."], "synonym_kw": ["Parkinson Disease type 17", "autosomal dominant Parkinson disease 17", "PARK17", "Parkinson disease type 17", "PARKINSON DISEASE 17; PARK17"], "synonym_std": ["Parkinson Disease type 17", "autosomal dominant Parkinson disease 17", "PARK17", "Parkinson disease type 17", "PARKINSON DISEASE 17; PARK17"], "label": ["Parkinson Disease 17", "Parkinson disease 17"], "definition_eng": ["A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13.", "Parkinson disease-17 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by {7:Wider et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see OMIM:168600."], "equivalent_curie_std": ["UMLS:C3280133", "DOID:0060897"], "category": ["disease"]}, {"synonym": ["Parkinson Disease, Age at Onset of", "PARK10", "PARKINSON DISEASE 10; PARK10", "Parkinson Disease type 10", "Parkinson Disease, Age At Onset Of"], "equivalent_curie_eng": ["MESH:C564653", "UMLS:C1847360"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:606852", "iri": "http://purl.obolibrary.org/obo/OMIM_606852", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/MESH_C564653", "http://purl.obolibrary.org/obo/UMLS_C1847360"], "label_eng": ["PARK10"], "equivalent_curie_std": ["MESH:C564653", "UMLS:C1847360"], "id_eng": "OMIM:606852", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/MESH_C564653", "http://purl.obolibrary.org/obo/UMLS_C1847360"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_606852", "label_std": ["PARK10"], "equivalent_curie": ["MESH:C564653", "UMLS:C1847360"], "equivalent_curie_kw": ["MESH:C564653", "UMLS:C1847360"], "synonym_eng": ["Parkinson Disease, Age at Onset of", "PARK10", "PARKINSON DISEASE 10; PARK10", "Parkinson Disease type 10", "Parkinson Disease, Age At Onset Of"], "score": 31.761618, "id_kw": "OMIM:606852", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/MESH_C564653", "http://purl.obolibrary.org/obo/UMLS_C1847360"], "label_kw": ["PARK10"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_606852", "equivalent_iri": ["http://purl.obolibrary.org/obo/MESH_C564653", "http://purl.obolibrary.org/obo/UMLS_C1847360"], "_version_": 1580845549489225728, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_606852", "id": "OMIM:606852", "synonym_kw": ["Parkinson Disease, Age at Onset of", "PARK10", "PARKINSON DISEASE 10; PARK10", "Parkinson Disease type 10", "Parkinson Disease, Age At Onset Of"], "synonym_std": ["Parkinson Disease, Age at Onset of", "PARK10", "PARKINSON DISEASE 10; PARK10", "Parkinson Disease type 10", "Parkinson Disease, Age At Onset Of"], "label": ["PARK10"], "category": ["disease"]}, {"synonym": ["Parkinson Disease, X-Linked", "PARK12", "Parkinson Disease type 12", "PARKINSON DISEASE 12; PARK12"], "equivalent_curie_eng": ["UMLS:C1845165", "MESH:C564486"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:300557", "iri": "http://purl.obolibrary.org/obo/OMIM_300557", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C1845165", "http://purl.obolibrary.org/obo/MESH_C564486"], "label_eng": ["PARK12"], "equivalent_curie_std": ["UMLS:C1845165", "MESH:C564486"], "id_eng": "OMIM:300557", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C1845165", "http://purl.obolibrary.org/obo/MESH_C564486"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_300557", "label_std": ["PARK12"], "equivalent_curie": ["UMLS:C1845165", "MESH:C564486"], "equivalent_curie_kw": ["UMLS:C1845165", "MESH:C564486"], "synonym_eng": ["Parkinson Disease, X-Linked", "PARK12", "Parkinson Disease type 12", "PARKINSON DISEASE 12; PARK12"], "score": 31.49809, "id_kw": "OMIM:300557", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C1845165", "http://purl.obolibrary.org/obo/MESH_C564486"], "label_kw": ["PARK12"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_300557", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C1845165", "http://purl.obolibrary.org/obo/MESH_C564486"], "_version_": 1580845549752418305, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_300557", "id": "OMIM:300557", "synonym_kw": ["Parkinson Disease, X-Linked", "PARK12", "Parkinson Disease type 12", "PARKINSON DISEASE 12; PARK12"], "synonym_std": ["Parkinson Disease, X-Linked", "PARK12", "Parkinson Disease type 12", "PARKINSON DISEASE 12; PARK12"], "label": ["PARK12"], "category": ["disease"]}, {"synonym": ["Lewy Body Parkinsonism", "Parkinson Disease, Autosomal Dominant", "Atypical Parkinson Disease"], "equivalent_curie_eng": ["UMLS:C3489791", "UMLS:C1868595"], "leaf": true, "category_std": ["disease"], "id_std": "MESH:C566823", "iri": "http://purl.obolibrary.org/obo/MESH_C566823", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3489791", "http://purl.obolibrary.org/obo/UMLS_C1868595"], "label_eng": ["Parkinson Disease, Familial, Type 1"], "equivalent_curie_std": ["UMLS:C3489791", "UMLS:C1868595"], "id_eng": "MESH:C566823", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3489791", "http://purl.obolibrary.org/obo/UMLS_C1868595"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/MESH_C566823", "label_std": ["Parkinson Disease, Familial, Type 1"], "equivalent_curie": ["UMLS:C3489791", "UMLS:C1868595"], "equivalent_curie_kw": ["UMLS:C3489791", "UMLS:C1868595"], "synonym_eng": ["Lewy Body Parkinsonism", "Parkinson Disease, Autosomal Dominant", "Atypical Parkinson Disease"], "score": 31.49809, "id_kw": "MESH:C566823", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3489791", "http://purl.obolibrary.org/obo/UMLS_C1868595"], "label_kw": ["Parkinson Disease, Familial, Type 1"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_C566823", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3489791", "http://purl.obolibrary.org/obo/UMLS_C1868595"], "_version_": 1580845611927732224, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/MESH_C566823", "id": "MESH:C566823", "synonym_kw": ["Lewy Body Parkinsonism", "Parkinson Disease, Autosomal Dominant", "Atypical Parkinson Disease"], "synonym_std": ["Lewy Body Parkinsonism", "Parkinson Disease, Autosomal Dominant", "Atypical Parkinson Disease"], "label": ["Parkinson Disease, Familial, Type 1"], "category": ["disease"]}, {"synonym": ["autosomal recessive Parkinson disease type 14", "PARK14", "PLA2G6-related dystonia-parkinsonism", "PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE; PARK14", "Dystonia-parkinsonism, Paisan-Ruiz type", "Dystonia-Parkinsonism, Adult-Onset"], "equivalent_curie_eng": ["UMLS:C2751842", "Orphanet:199351", "DOID:0060900"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:612953", "iri": "http://purl.obolibrary.org/obo/OMIM_612953", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C2751842", "http://www.orpha.net/ORDO/Orphanet_199351", "http://purl.obolibrary.org/obo/DOID_0060900"], "label_eng": ["autosomal recessive Parkinson disease 14", "Parkinson disease 14", "Parkinson Disease 14, Autosomal Recessive"], "definition_std": ["Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline."], "id_eng": "OMIM:612953", "definition_kw": ["Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C2751842", "http://www.orpha.net/ORDO/Orphanet_199351", "http://purl.obolibrary.org/obo/DOID_0060900"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_612953", "label_std": ["autosomal recessive Parkinson disease 14", "Parkinson disease 14", "Parkinson Disease 14, Autosomal Recessive"], "equivalent_curie": ["UMLS:C2751842", "Orphanet:199351", "DOID:0060900"], "equivalent_curie_kw": ["UMLS:C2751842", "Orphanet:199351", "DOID:0060900"], "synonym_eng": ["autosomal recessive Parkinson disease type 14", "PARK14", "PLA2G6-related dystonia-parkinsonism", "PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE; PARK14", "Dystonia-parkinsonism, Paisan-Ruiz type", "Dystonia-Parkinsonism, Adult-Onset"], "score": 31.00915, "id_kw": "OMIM:612953", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C2751842", "http://www.orpha.net/ORDO/Orphanet_199351", "http://purl.obolibrary.org/obo/DOID_0060900"], "label_kw": ["autosomal recessive Parkinson disease 14", "Parkinson disease 14", "Parkinson Disease 14, Autosomal Recessive"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_612953", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C2751842", "http://www.orpha.net/ORDO/Orphanet_199351", "http://purl.obolibrary.org/obo/DOID_0060900"], "_version_": 1580845545528754177, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_612953", "id": "OMIM:612953", "definition": ["Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline."], "synonym_kw": ["autosomal recessive Parkinson disease type 14", "PARK14", "PLA2G6-related dystonia-parkinsonism", "PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE; PARK14", "Dystonia-parkinsonism, Paisan-Ruiz type", "Dystonia-Parkinsonism, Adult-Onset"], "synonym_std": ["autosomal recessive Parkinson disease type 14", "PARK14", "PLA2G6-related dystonia-parkinsonism", "PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE; PARK14", "Dystonia-parkinsonism, Paisan-Ruiz type", "Dystonia-Parkinsonism, Adult-Onset"], "label": ["autosomal recessive Parkinson disease 14", "Parkinson disease 14", "Parkinson Disease 14, Autosomal Recessive"], "definition_eng": ["Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline."], "equivalent_curie_std": ["UMLS:C2751842", "Orphanet:199351", "DOID:0060900"], "category": ["disease"]}, {"synonym": ["Parkinsonian disease"], "leaf": false, "category_std": ["Phenotype"], "id_std": "HP:0001300", "iri": "http://purl.obolibrary.org/obo/HP_0001300", "label_eng": ["Parkinsonism"], "definition_std": ["Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait."], "id_eng": "HP:0001300", "definition_kw": ["Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0001300", "label_std": ["Parkinsonism"], "synonym_eng": ["Parkinsonian disease"], "score": 30.95801, "id_kw": "HP:0001300", "label_kw": ["Parkinsonism"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0001300", "_version_": 1580845591874764800, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0001300", "id": "HP:0001300", "definition": ["Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait."], "synonym_kw": ["Parkinsonian disease"], "synonym_std": ["Parkinsonian disease"], "label": ["Parkinsonism"], "definition_eng": ["Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait."], "category": ["Phenotype"]}, {"synonym": ["PARK1", "autosomal dominant Parkinson disease type 1", "Parkinson Disease 1, Autosomal Dominant Lewy Body", "PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1", "Atypical Parkinson Disease"], "equivalent_curie_eng": ["UMLS:C3149705", "UMLS:C1868596", "DOID:0060367"], "leaf": false, "category_std": ["disease"], "id_std": "OMIM:168601", "iri": "http://purl.obolibrary.org/obo/OMIM_168601", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3149705", "http://purl.obolibrary.org/obo/UMLS_C1868596", "http://purl.obolibrary.org/obo/DOID_0060367"], "label_eng": ["Parkinson disease 1", "autosomal dominant Parkinson disease 1", "Parkinson Disease 1, Autosomal Dominant"], "definition_std": ["Parkinson disease is the second most common neurogenic disorder after Alzheimer disease (AD; OMIM:104300), affecting approximately 1% of the population over age 50. Clinical manifestations include resting tremor, muscular rigidity, bradykinesia, and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia ({17:Polymeropoulos et al., 1996}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see OMIM:168600.", "A Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein (SNCA) gene on chromosome 4q22.1."], "id_eng": "OMIM:168601", "definition_kw": ["Parkinson disease is the second most common neurogenic disorder after Alzheimer disease (AD; OMIM:104300), affecting approximately 1% of the population over age 50. Clinical manifestations include resting tremor, muscular rigidity, bradykinesia, and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia ({17:Polymeropoulos et al., 1996}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see OMIM:168600.", "A Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein (SNCA) gene on chromosome 4q22.1."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3149705", "http://purl.obolibrary.org/obo/UMLS_C1868596", "http://purl.obolibrary.org/obo/DOID_0060367"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_168601", "label_std": ["Parkinson disease 1", "autosomal dominant Parkinson disease 1", "Parkinson Disease 1, Autosomal Dominant"], "equivalent_curie": ["UMLS:C3149705", "UMLS:C1868596", "DOID:0060367"], "equivalent_curie_kw": ["UMLS:C3149705", "UMLS:C1868596", "DOID:0060367"], "synonym_eng": ["PARK1", "autosomal dominant Parkinson disease type 1", "Parkinson Disease 1, Autosomal Dominant Lewy Body", "PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1", "Atypical Parkinson Disease"], "score": 30.931908, "id_kw": "OMIM:168601", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3149705", "http://purl.obolibrary.org/obo/UMLS_C1868596", "http://purl.obolibrary.org/obo/DOID_0060367"], "label_kw": ["Parkinson disease 1", "autosomal dominant Parkinson disease 1", "Parkinson Disease 1, Autosomal Dominant"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_168601", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3149705", "http://purl.obolibrary.org/obo/UMLS_C1868596", "http://purl.obolibrary.org/obo/DOID_0060367"], "_version_": 1580845512215494656, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_168601", "id": "OMIM:168601", "definition": ["Parkinson disease is the second most common neurogenic disorder after Alzheimer disease (AD; OMIM:104300), affecting approximately 1% of the population over age 50. Clinical manifestations include resting tremor, muscular rigidity, bradykinesia, and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia ({17:Polymeropoulos et al., 1996}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see OMIM:168600.", "A Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein (SNCA) gene on chromosome 4q22.1."], "synonym_kw": ["PARK1", "autosomal dominant Parkinson disease type 1", "Parkinson Disease 1, Autosomal Dominant Lewy Body", "PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1", "Atypical Parkinson Disease"], "synonym_std": ["PARK1", "autosomal dominant Parkinson disease type 1", "Parkinson Disease 1, Autosomal Dominant Lewy Body", "PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1", "Atypical Parkinson Disease"], "label": ["Parkinson disease 1", "autosomal dominant Parkinson disease 1", "Parkinson Disease 1, Autosomal Dominant"], "definition_eng": ["Parkinson disease is the second most common neurogenic disorder after Alzheimer disease (AD; OMIM:104300), affecting approximately 1% of the population over age 50. Clinical manifestations include resting tremor, muscular rigidity, bradykinesia, and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia ({17:Polymeropoulos et al., 1996}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see OMIM:168600.", "A Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein (SNCA) gene on chromosome 4q22.1."], "equivalent_curie_std": ["UMLS:C3149705", "UMLS:C1868596", "DOID:0060367"], "category": ["disease"]}, {"synonym": ["PARKINSON DISEASE 3, AUTOSOMAL DOMINANT; PARK3", "Parkinson Disease 3, Autosomal Dominant", "Parkinson Disease 3, Autosomal Dominant Lewy Body", "PARK3"], "equivalent_curie_eng": ["MESH:C566552", "UMLS:C1865581"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:602404", "iri": "http://purl.obolibrary.org/obo/OMIM_602404", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/MESH_C566552", "http://purl.obolibrary.org/obo/UMLS_C1865581"], "label_eng": ["PARK3"], "equivalent_curie_std": ["MESH:C566552", "UMLS:C1865581"], "id_eng": "OMIM:602404", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/MESH_C566552", "http://purl.obolibrary.org/obo/UMLS_C1865581"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_602404", "label_std": ["PARK3"], "equivalent_curie": ["MESH:C566552", "UMLS:C1865581"], "equivalent_curie_kw": ["MESH:C566552", "UMLS:C1865581"], "synonym_eng": ["PARKINSON DISEASE 3, AUTOSOMAL DOMINANT; PARK3", "Parkinson Disease 3, Autosomal Dominant", "Parkinson Disease 3, Autosomal Dominant Lewy Body", "PARK3"], "score": 30.23689, "id_kw": "OMIM:602404", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/MESH_C566552", "http://purl.obolibrary.org/obo/UMLS_C1865581"], "label_kw": ["PARK3"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_602404", "equivalent_iri": ["http://purl.obolibrary.org/obo/MESH_C566552", "http://purl.obolibrary.org/obo/UMLS_C1865581"], "_version_": 1580845549616103426, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_602404", "id": "OMIM:602404", "synonym_kw": ["PARKINSON DISEASE 3, AUTOSOMAL DOMINANT; PARK3", "Parkinson Disease 3, Autosomal Dominant", "Parkinson Disease 3, Autosomal Dominant Lewy Body", "PARK3"], "synonym_std": ["PARKINSON DISEASE 3, AUTOSOMAL DOMINANT; PARK3", "Parkinson Disease 3, Autosomal Dominant", "Parkinson Disease 3, Autosomal Dominant Lewy Body", "PARK3"], "label": ["PARK3"], "category": ["disease"]}, {"synonym": ["protein deglycase DJ-1", "Parkinsonism associated deglycase", "Parkinson disease (autosomal recessive, early onset) 7", "parkinson protein 7"], "equivalent_curie_eng": ["ENSEMBL:ENSPTRG00000000102"], "taxon_kw": "NCBITaxon:9598", "leaf": true, "category_std": ["gene"], "id_std": "NCBIGene:746063", "iri": "http://www.ncbi.nlm.nih.gov/gene/746063", "taxon_label_synonym_eng": ["Chimpansee troglodytes", "chimpanzee"], "taxon_label_synonym_kw": ["Chimpansee troglodytes", "chimpanzee"], "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSPTRG00000000102"], "label_eng": ["PARK7"], "equivalent_curie_std": ["ENSEMBL:ENSPTRG00000000102"], "id_eng": "NCBIGene:746063", "taxon_label_synonym_std": ["Chimpansee troglodytes", "chimpanzee"], "taxon_std": "NCBITaxon:9598", "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSPTRG00000000102"], "category_kw": ["gene"], "taxon_label_synonym": ["Chimpansee troglodytes", "chimpanzee"], "equivalent_curie_kw": ["ENSEMBL:ENSPTRG00000000102"], "taxon_label_std": "Pan troglodytes", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/746063", "label_std": ["PARK7"], "taxon_label_kw": "Pan troglodytes", "synonym_eng": ["protein deglycase DJ-1", "Parkinsonism associated deglycase", "Parkinson disease (autosomal recessive, early onset) 7", "parkinson protein 7"], "equivalent_curie": ["ENSEMBL:ENSPTRG00000000102"], "taxon_label_eng": "Pan troglodytes", "taxon": "NCBITaxon:9598", "taxon_label": "Pan troglodytes", "id_kw": "NCBIGene:746063", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSPTRG00000000102"], "label_kw": ["PARK7"], "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/746063", "equivalent_iri": ["http://identifiers.org/ensembl/ENSPTRG00000000102"], "taxon_eng": "NCBITaxon:9598", "_version_": 1580845640073609217, "category_eng": ["gene"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/746063", "id": "NCBIGene:746063", "synonym_kw": ["protein deglycase DJ-1", "Parkinsonism associated deglycase", "Parkinson disease (autosomal recessive, early onset) 7", "parkinson protein 7"], "synonym_std": ["protein deglycase DJ-1", "Parkinsonism associated deglycase", "Parkinson disease (autosomal recessive, early onset) 7", "parkinson protein 7"], "label": ["PARK7"], "score": 30.23689, "category": ["gene"]}, {"synonym": ["PARK21", "PARKINSON DISEASE 21; PARK21", "Parkinson Disease type 21"], "equivalent_curie_eng": ["UMLS:C4225353"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:616361", "iri": "http://purl.obolibrary.org/obo/OMIM_616361", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C4225353"], "label_eng": ["PARK21", "Parkinson Disease 21"], "definition_std": ["Parkinson disease-21 is an autosomal dominant form of typical adult-onset Parkinson disease characterized by tremor, rigidity, bradykinesia, postural instability, and good response to levodopa treatment (summary by {3:Vilarino-Guell et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (OMIM:168600).", "See http://www.omim.org/entry/616361"], "id_eng": "OMIM:616361", "definition_kw": ["Parkinson disease-21 is an autosomal dominant form of typical adult-onset Parkinson disease characterized by tremor, rigidity, bradykinesia, postural instability, and good response to levodopa treatment (summary by {3:Vilarino-Guell et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (OMIM:168600).", "See http://www.omim.org/entry/616361"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C4225353"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_616361", "label_std": ["PARK21", "Parkinson Disease 21"], "equivalent_curie": ["UMLS:C4225353"], "equivalent_curie_kw": ["UMLS:C4225353"], "synonym_eng": ["PARK21", "PARKINSON DISEASE 21; PARK21", "Parkinson Disease type 21"], "score": 30.136702, "id_kw": "OMIM:616361", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C4225353"], "label_kw": ["PARK21", "Parkinson Disease 21"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_616361", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C4225353"], "_version_": 1580845544378466306, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_616361", "id": "OMIM:616361", "definition": ["Parkinson disease-21 is an autosomal dominant form of typical adult-onset Parkinson disease characterized by tremor, rigidity, bradykinesia, postural instability, and good response to levodopa treatment (summary by {3:Vilarino-Guell et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (OMIM:168600).", "See http://www.omim.org/entry/616361"], "synonym_kw": ["PARK21", "PARKINSON DISEASE 21; PARK21", "Parkinson Disease type 21"], "synonym_std": ["PARK21", "PARKINSON DISEASE 21; PARK21", "Parkinson Disease type 21"], "label": ["PARK21", "Parkinson Disease 21"], "definition_eng": ["Parkinson disease-21 is an autosomal dominant form of typical adult-onset Parkinson disease characterized by tremor, rigidity, bradykinesia, postural instability, and good response to levodopa treatment (summary by {3:Vilarino-Guell et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (OMIM:168600).", "See http://www.omim.org/entry/616361"], "equivalent_curie_std": ["UMLS:C4225353"], "category": ["disease"]}, {"synonym": ["PARK16", "Parkinson Disease type 16", "PARKINSON DISEASE 16; PARK16"], "equivalent_curie_eng": ["MESH:C567726", "UMLS:C2751012"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:613164", "iri": "http://purl.obolibrary.org/obo/OMIM_613164", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/MESH_C567726", "http://purl.obolibrary.org/obo/UMLS_C2751012"], "label_eng": ["PARK16"], "equivalent_curie_std": ["MESH:C567726", "UMLS:C2751012"], "id_eng": "OMIM:613164", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/MESH_C567726", "http://purl.obolibrary.org/obo/UMLS_C2751012"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_613164", "label_std": ["PARK16"], "equivalent_curie": ["MESH:C567726", "UMLS:C2751012"], "equivalent_curie_kw": ["MESH:C567726", "UMLS:C2751012"], "synonym_eng": ["PARK16", "Parkinson Disease type 16", "PARKINSON DISEASE 16; PARK16"], "score": 30.136702, "id_kw": "OMIM:613164", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/MESH_C567726", "http://purl.obolibrary.org/obo/UMLS_C2751012"], "label_kw": ["PARK16"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_613164", "equivalent_iri": ["http://purl.obolibrary.org/obo/MESH_C567726", "http://purl.obolibrary.org/obo/UMLS_C2751012"], "_version_": 1580845549777584129, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_613164", "id": "OMIM:613164", "synonym_kw": ["PARK16", "Parkinson Disease type 16", "PARKINSON DISEASE 16; PARK16"], "synonym_std": ["PARK16", "Parkinson Disease type 16", "PARKINSON DISEASE 16; PARK16"], "label": ["PARK16"], "category": ["disease"]}, {"synonym": ["Parkinsonism, Early-Onset, With Diurnal Fluctuation", "PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2", "Parkinson Disease, Juvenile, Autosomal Recessive", "autosomal recessive juvenile Parkinson disease type 2", "PARK2"], "equivalent_curie_eng": ["UMLS:C1868675", "UMLS:C0752099", "DOID:0060368"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:600116", "iri": "http://purl.obolibrary.org/obo/OMIM_600116", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C1868675", "http://purl.obolibrary.org/obo/UMLS_C0752099", "http://purl.obolibrary.org/obo/DOID_0060368"], "label_eng": ["Parkinson Disease 2, Autosomal Recessive Juvenile", "Parkinson disease 2", "autosomal recessive juvenile Parkinson disease 2"], "definition_std": ["A Parkinson's disease that has_material_basis_in mutation in the parkin gene (PARK2) on chromosome 6q25.2-q27."], "id_eng": "OMIM:600116", "definition_kw": ["A Parkinson's disease that has_material_basis_in mutation in the parkin gene (PARK2) on chromosome 6q25.2-q27."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C1868675", "http://purl.obolibrary.org/obo/UMLS_C0752099", "http://purl.obolibrary.org/obo/DOID_0060368"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_600116", "label_std": ["Parkinson Disease 2, Autosomal Recessive Juvenile", "Parkinson disease 2", "autosomal recessive juvenile Parkinson disease 2"], "equivalent_curie": ["UMLS:C1868675", "UMLS:C0752099", "DOID:0060368"], "equivalent_curie_kw": ["UMLS:C1868675", "UMLS:C0752099", "DOID:0060368"], "synonym_eng": ["Parkinsonism, Early-Onset, With Diurnal Fluctuation", "PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2", "Parkinson Disease, Juvenile, Autosomal Recessive", "autosomal recessive juvenile Parkinson disease type 2", "PARK2"], "score": 29.73511, "id_kw": "OMIM:600116", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C1868675", "http://purl.obolibrary.org/obo/UMLS_C0752099", "http://purl.obolibrary.org/obo/DOID_0060368"], "label_kw": ["Parkinson Disease 2, Autosomal Recessive Juvenile", "Parkinson disease 2", "autosomal recessive juvenile Parkinson disease 2"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_600116", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C1868675", "http://purl.obolibrary.org/obo/UMLS_C0752099", "http://purl.obolibrary.org/obo/DOID_0060368"], "_version_": 1580845512038285312, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_600116", "id": "OMIM:600116", "definition": ["A Parkinson's disease that has_material_basis_in mutation in the parkin gene (PARK2) on chromosome 6q25.2-q27."], "synonym_kw": ["Parkinsonism, Early-Onset, With Diurnal Fluctuation", "PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2", "Parkinson Disease, Juvenile, Autosomal Recessive", "autosomal recessive juvenile Parkinson disease type 2", "PARK2"], "synonym_std": ["Parkinsonism, Early-Onset, With Diurnal Fluctuation", "PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2", "Parkinson Disease, Juvenile, Autosomal Recessive", "autosomal recessive juvenile Parkinson disease type 2", "PARK2"], "label": ["Parkinson Disease 2, Autosomal Recessive Juvenile", "Parkinson disease 2", "autosomal recessive juvenile Parkinson disease 2"], "definition_eng": ["A Parkinson's disease that has_material_basis_in mutation in the parkin gene (PARK2) on chromosome 6q25.2-q27."], "equivalent_curie_std": ["UMLS:C1868675", "UMLS:C0752099", "DOID:0060368"], "category": ["disease"]}, {"synonym": ["Parkinson Disease 19B, Early-Onset", "Park19, Formerly", "juvenile onset Parkinson disease type 19A", "PARKINSON DISEASE 19A, JUVENILE-ONSET; PARK19A", "PARK19A", "PARK19", "PARKINSON DISEASE 19, JUVENILE-ONSET; PARK19"], "equivalent_curie_eng": ["UMLS:C3809811", "DOID:0060891"], "leaf": false, "category_std": ["disease"], "id_std": "OMIM:615528", "iri": "http://purl.obolibrary.org/obo/OMIM_615528", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3809811", "http://purl.obolibrary.org/obo/DOID_0060891"], "label_eng": ["juvenile onset Parkinson disease 19A", "Parkinson disease 19a, juvenile-onset", "Parkinson Disease 19A, Juvenile-Onset"], "definition_std": ["Parkinson disease-19A is an autosomal recessive neurodegenerative disorder characterized by onset of parkinsonism in the first or second decade. Some patients may have additional neurologic features, including mental retardation and seizures (summary by {1:Edvardson et al., 2012} and {3:Koroglu et al., 2013}).\n\nParkinson disease-19B is an autosomal recessive neurodegenerative disorder with onset of parkinsonism between the third and fifth decades. It is slowly progressive, shows features similar to classic late-onset Parkinson disease (PD), and has a beneficial response to dopaminergic therapy ({4:Olgiati et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (OMIM:168600).", "A Parkinson's disease that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31."], "id_eng": "OMIM:615528", "definition_kw": ["Parkinson disease-19A is an autosomal recessive neurodegenerative disorder characterized by onset of parkinsonism in the first or second decade. Some patients may have additional neurologic features, including mental retardation and seizures (summary by {1:Edvardson et al., 2012} and {3:Koroglu et al., 2013}).\n\nParkinson disease-19B is an autosomal recessive neurodegenerative disorder with onset of parkinsonism between the third and fifth decades. It is slowly progressive, shows features similar to classic late-onset Parkinson disease (PD), and has a beneficial response to dopaminergic therapy ({4:Olgiati et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (OMIM:168600).", "A Parkinson's disease that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3809811", "http://purl.obolibrary.org/obo/DOID_0060891"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_615528", "label_std": ["juvenile onset Parkinson disease 19A", "Parkinson disease 19a, juvenile-onset", "Parkinson Disease 19A, Juvenile-Onset"], "equivalent_curie": ["UMLS:C3809811", "DOID:0060891"], "equivalent_curie_kw": ["UMLS:C3809811", "DOID:0060891"], "synonym_eng": ["Parkinson Disease 19B, Early-Onset", "Park19, Formerly", "juvenile onset Parkinson disease type 19A", "PARKINSON DISEASE 19A, JUVENILE-ONSET; PARK19A", "PARK19A", "PARK19", "PARKINSON DISEASE 19, JUVENILE-ONSET; PARK19"], "score": 29.73511, "id_kw": "OMIM:615528", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3809811", "http://purl.obolibrary.org/obo/DOID_0060891"], "label_kw": ["juvenile onset Parkinson disease 19A", "Parkinson disease 19a, juvenile-onset", "Parkinson Disease 19A, Juvenile-Onset"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_615528", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3809811", "http://purl.obolibrary.org/obo/DOID_0060891"], "_version_": 1580845545217327105, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_615528", "id": "OMIM:615528", "definition": ["Parkinson disease-19A is an autosomal recessive neurodegenerative disorder characterized by onset of parkinsonism in the first or second decade. Some patients may have additional neurologic features, including mental retardation and seizures (summary by {1:Edvardson et al., 2012} and {3:Koroglu et al., 2013}).\n\nParkinson disease-19B is an autosomal recessive neurodegenerative disorder with onset of parkinsonism between the third and fifth decades. It is slowly progressive, shows features similar to classic late-onset Parkinson disease (PD), and has a beneficial response to dopaminergic therapy ({4:Olgiati et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (OMIM:168600).", "A Parkinson's disease that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31."], "synonym_kw": ["Parkinson Disease 19B, Early-Onset", "Park19, Formerly", "juvenile onset Parkinson disease type 19A", "PARKINSON DISEASE 19A, JUVENILE-ONSET; PARK19A", "PARK19A", "PARK19", "PARKINSON DISEASE 19, JUVENILE-ONSET; PARK19"], "synonym_std": ["Parkinson Disease 19B, Early-Onset", "Park19, Formerly", "juvenile onset Parkinson disease type 19A", "PARKINSON DISEASE 19A, JUVENILE-ONSET; PARK19A", "PARK19A", "PARK19", "PARKINSON DISEASE 19, JUVENILE-ONSET; PARK19"], "label": ["juvenile onset Parkinson disease 19A", "Parkinson disease 19a, juvenile-onset", "Parkinson Disease 19A, Juvenile-Onset"], "definition_eng": ["Parkinson disease-19A is an autosomal recessive neurodegenerative disorder characterized by onset of parkinsonism in the first or second decade. Some patients may have additional neurologic features, including mental retardation and seizures (summary by {1:Edvardson et al., 2012} and {3:Koroglu et al., 2013}).\n\nParkinson disease-19B is an autosomal recessive neurodegenerative disorder with onset of parkinsonism between the third and fifth decades. It is slowly progressive, shows features similar to classic late-onset Parkinson disease (PD), and has a beneficial response to dopaminergic therapy ({4:Olgiati et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (OMIM:168600).", "A Parkinson's disease that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31."], "equivalent_curie_std": ["UMLS:C3809811", "DOID:0060891"], "category": ["disease"]}, {"synonym": ["Parkinson Disease 4, Autosomal Dominant Lewy Body", "autosomal dominant Parkinson disease type 4", "autosomal dominant Lewy body Parkinson disease 4", "PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4", "PARK4"], "equivalent_curie_eng": ["UMLS:C1854182", "DOID:0060895"], "leaf": false, "category_std": ["disease"], "id_std": "OMIM:605543", "iri": "http://purl.obolibrary.org/obo/OMIM_605543", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C1854182", "http://purl.obolibrary.org/obo/DOID_0060895"], "label_eng": ["Parkinson Disease 4, Autosomal Dominant", "autosomal dominant Parkinson disease 4", "Parkinson disease 4"], "definition_std": ["A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22."], "id_eng": "OMIM:605543", "definition_kw": ["A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C1854182", "http://purl.obolibrary.org/obo/DOID_0060895"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_605543", "label_std": ["Parkinson Disease 4, Autosomal Dominant", "autosomal dominant Parkinson disease 4", "Parkinson disease 4"], "equivalent_curie": ["UMLS:C1854182", "DOID:0060895"], "equivalent_curie_kw": ["UMLS:C1854182", "DOID:0060895"], "synonym_eng": ["Parkinson Disease 4, Autosomal Dominant Lewy Body", "autosomal dominant Parkinson disease type 4", "autosomal dominant Lewy body Parkinson disease 4", "PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4", "PARK4"], "score": 29.73511, "id_kw": "OMIM:605543", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C1854182", "http://purl.obolibrary.org/obo/DOID_0060895"], "label_kw": ["Parkinson Disease 4, Autosomal Dominant", "autosomal dominant Parkinson disease 4", "Parkinson disease 4"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_605543", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C1854182", "http://purl.obolibrary.org/obo/DOID_0060895"], "_version_": 1580845545907290112, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_605543", "id": "OMIM:605543", "definition": ["A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22."], "synonym_kw": ["Parkinson Disease 4, Autosomal Dominant Lewy Body", "autosomal dominant Parkinson disease type 4", "autosomal dominant Lewy body Parkinson disease 4", "PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4", "PARK4"], "synonym_std": ["Parkinson Disease 4, Autosomal Dominant Lewy Body", "autosomal dominant Parkinson disease type 4", "autosomal dominant Lewy body Parkinson disease 4", "PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4", "PARK4"], "label": ["Parkinson Disease 4, Autosomal Dominant", "autosomal dominant Parkinson disease 4", "Parkinson disease 4"], "definition_eng": ["A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22."], "equivalent_curie_std": ["UMLS:C1854182", "DOID:0060895"], "category": ["disease"]}, {"synonym": ["protein DJ-1", "parkinsonism-associated deglycase", "protein deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7", "protein/nucleic acid deglycase DJ-1", "parkinson disease protein 7 homolog", "DJ-1", "Parkinson disease 7", "maillard deglycase"], "equivalent_curie_eng": ["ENSEMBL:ENSGALG00000036214"], "taxon_kw": "NCBITaxon:9031", "leaf": true, "category_std": ["gene"], "id_std": "NCBIGene:395277", "iri": "http://www.ncbi.nlm.nih.gov/gene/395277", "taxon_label_synonym_eng": ["chickens", "chicken", "bantam", "Gallus domesticus", "Gallus gallus domesticus"], "taxon_label_synonym_kw": ["chickens", "chicken", "bantam", "Gallus domesticus", "Gallus gallus domesticus"], "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSGALG00000036214"], "label_eng": ["PARK7"], "equivalent_curie_std": ["ENSEMBL:ENSGALG00000036214"], "id_eng": "NCBIGene:395277", "taxon_label_synonym_std": ["chickens", "chicken", "bantam", "Gallus domesticus", "Gallus gallus domesticus"], "taxon_std": "NCBITaxon:9031", "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSGALG00000036214"], "category_kw": ["gene"], "taxon_label_synonym": ["chickens", "chicken", "bantam", "Gallus domesticus", "Gallus gallus domesticus"], "equivalent_curie_kw": ["ENSEMBL:ENSGALG00000036214"], "taxon_label_std": "Gallus gallus", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/395277", "label_std": ["PARK7"], "taxon_label_kw": "Gallus gallus", "synonym_eng": ["protein DJ-1", "parkinsonism-associated deglycase", "protein deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7", "protein/nucleic acid deglycase DJ-1", "parkinson disease protein 7 homolog", "DJ-1", "Parkinson disease 7", "maillard deglycase"], "equivalent_curie": ["ENSEMBL:ENSGALG00000036214"], "taxon_label_eng": "Gallus gallus", "taxon": "NCBITaxon:9031", "taxon_label": "Gallus gallus", "id_kw": "NCBIGene:395277", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSGALG00000036214"], "label_kw": ["PARK7"], "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/395277", "equivalent_iri": ["http://identifiers.org/ensembl/ENSGALG00000036214"], "taxon_eng": "NCBITaxon:9031", "_version_": 1580845746098274304, "category_eng": ["gene"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/395277", "id": "NCBIGene:395277", "synonym_kw": ["protein DJ-1", "parkinsonism-associated deglycase", "protein deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7", "protein/nucleic acid deglycase DJ-1", "parkinson disease protein 7 homolog", "DJ-1", "Parkinson disease 7", "maillard deglycase"], "synonym_std": ["protein DJ-1", "parkinsonism-associated deglycase", "protein deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7", "protein/nucleic acid deglycase DJ-1", "parkinson disease protein 7 homolog", "DJ-1", "Parkinson disease 7", "maillard deglycase"], "label": ["PARK7"], "score": 29.73511, "category": ["gene"]}, {"synonym": ["PARKINSONISM-DYSTONIA, INFANTILE; PKDYS", "Dopamine Transporter Deficiency Syndrome", "PKDYS", "IPD"], "equivalent_curie_eng": ["Orphanet:238455", "UMLS:C2751067", "MESH:C567730"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:613135", "iri": "http://purl.obolibrary.org/obo/OMIM_613135", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_238455", "http://purl.obolibrary.org/obo/UMLS_C2751067", "http://purl.obolibrary.org/obo/MESH_C567730"], "label_eng": ["Parkinsonism-Dystonia, Infantile", "Infantile Parkinsonism-dystonia", "Infantile dystonia-parkinsonism"], "definition_std": ["Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.", "Infantile parkinsonism-dystonia, also known as dopamine transporter deficiency syndrome (DTDS), is an autosomal recessive complex motor neurologic disorder with onset in infancy. Affected individuals show hyperkinesia with orolingual and limb dyskinesia, dystonia, and chorea, or hypokinesia with parkinsonian features, such as bradykinesia, rigidity, and tremor. Other features may include axial hypotonia, pyramidal tract signs, and eye movement abnormalities. Many patients are misdiagnosed as having cerebral palsy. Cognitive function appears to be less severely affected, but most patients die in the teenage years. There is no effective treatment. Laboratory studies show an increased ratio of homovanillic acid (HVA) to 5-hydroxyindoleacetic acid (5-HIAA) in cerebrospinal fluid (CSF), which represents an increase in dopamine metabolites (review by {1:Kurian et al., 2011}).\n\nFor an overlapping phenotype, see tyrosine hydroxylase deficiency (OMIM:605407), also known as autosomal recessive Segawa syndrome."], "id_eng": "OMIM:613135", "definition_kw": ["Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.", "Infantile parkinsonism-dystonia, also known as dopamine transporter deficiency syndrome (DTDS), is an autosomal recessive complex motor neurologic disorder with onset in infancy. Affected individuals show hyperkinesia with orolingual and limb dyskinesia, dystonia, and chorea, or hypokinesia with parkinsonian features, such as bradykinesia, rigidity, and tremor. Other features may include axial hypotonia, pyramidal tract signs, and eye movement abnormalities. Many patients are misdiagnosed as having cerebral palsy. Cognitive function appears to be less severely affected, but most patients die in the teenage years. There is no effective treatment. Laboratory studies show an increased ratio of homovanillic acid (HVA) to 5-hydroxyindoleacetic acid (5-HIAA) in cerebrospinal fluid (CSF), which represents an increase in dopamine metabolites (review by {1:Kurian et al., 2011}).\n\nFor an overlapping phenotype, see tyrosine hydroxylase deficiency (OMIM:605407), also known as autosomal recessive Segawa syndrome."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_238455", "http://purl.obolibrary.org/obo/UMLS_C2751067", "http://purl.obolibrary.org/obo/MESH_C567730"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_613135", "label_std": ["Parkinsonism-Dystonia, Infantile", "Infantile Parkinsonism-dystonia", "Infantile dystonia-parkinsonism"], "equivalent_curie": ["Orphanet:238455", "UMLS:C2751067", "MESH:C567730"], "equivalent_curie_kw": ["Orphanet:238455", "UMLS:C2751067", "MESH:C567730"], "synonym_eng": ["PARKINSONISM-DYSTONIA, INFANTILE; PKDYS", "Dopamine Transporter Deficiency Syndrome", "PKDYS", "IPD"], "score": 29.673494, "id_kw": "OMIM:613135", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_238455", "http://purl.obolibrary.org/obo/UMLS_C2751067", "http://purl.obolibrary.org/obo/MESH_C567730"], "label_kw": ["Parkinsonism-Dystonia, Infantile", "Infantile Parkinsonism-dystonia", "Infantile dystonia-parkinsonism"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_613135", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_238455", "http://purl.obolibrary.org/obo/UMLS_C2751067", "http://purl.obolibrary.org/obo/MESH_C567730"], "_version_": 1580845510167625728, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_613135", "id": "OMIM:613135", "definition": ["Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.", "Infantile parkinsonism-dystonia, also known as dopamine transporter deficiency syndrome (DTDS), is an autosomal recessive complex motor neurologic disorder with onset in infancy. Affected individuals show hyperkinesia with orolingual and limb dyskinesia, dystonia, and chorea, or hypokinesia with parkinsonian features, such as bradykinesia, rigidity, and tremor. Other features may include axial hypotonia, pyramidal tract signs, and eye movement abnormalities. Many patients are misdiagnosed as having cerebral palsy. Cognitive function appears to be less severely affected, but most patients die in the teenage years. There is no effective treatment. Laboratory studies show an increased ratio of homovanillic acid (HVA) to 5-hydroxyindoleacetic acid (5-HIAA) in cerebrospinal fluid (CSF), which represents an increase in dopamine metabolites (review by {1:Kurian et al., 2011}).\n\nFor an overlapping phenotype, see tyrosine hydroxylase deficiency (OMIM:605407), also known as autosomal recessive Segawa syndrome."], "synonym_kw": ["PARKINSONISM-DYSTONIA, INFANTILE; PKDYS", "Dopamine Transporter Deficiency Syndrome", "PKDYS", "IPD"], "synonym_std": ["PARKINSONISM-DYSTONIA, INFANTILE; PKDYS", "Dopamine Transporter Deficiency Syndrome", "PKDYS", "IPD"], "label": ["Parkinsonism-Dystonia, Infantile", "Infantile Parkinsonism-dystonia", "Infantile dystonia-parkinsonism"], "definition_eng": ["Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.", "Infantile parkinsonism-dystonia, also known as dopamine transporter deficiency syndrome (DTDS), is an autosomal recessive complex motor neurologic disorder with onset in infancy. Affected individuals show hyperkinesia with orolingual and limb dyskinesia, dystonia, and chorea, or hypokinesia with parkinsonian features, such as bradykinesia, rigidity, and tremor. Other features may include axial hypotonia, pyramidal tract signs, and eye movement abnormalities. Many patients are misdiagnosed as having cerebral palsy. Cognitive function appears to be less severely affected, but most patients die in the teenage years. There is no effective treatment. Laboratory studies show an increased ratio of homovanillic acid (HVA) to 5-hydroxyindoleacetic acid (5-HIAA) in cerebrospinal fluid (CSF), which represents an increase in dopamine metabolites (review by {1:Kurian et al., 2011}).\n\nFor an overlapping phenotype, see tyrosine hydroxylase deficiency (OMIM:605407), also known as autosomal recessive Segawa syndrome."], "equivalent_curie_std": ["Orphanet:238455", "UMLS:C2751067", "MESH:C567730"], "category": ["disease"]}, {"synonym": ["PARK15", "PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15", "Parkinsonian-Pyramidal Syndrome", "Parkinsonian-pyramidal syndrome", "pallidopyramidal syndrome", "Pallidopyramidal Syndrome", "Parkinson Disease 15, Autosomal Recessive", "Pallido-pyramidal disease", "Pallidopyramidal syndrome", "Pallido-Pyramidal Syndrome", "autosomal recessive early-onset Parkinson disease type 15"], "equivalent_curie_eng": ["Orphanet:171695", "UMLS:CN200292", "UMLS:C1850100", "DOID:0060372", "MESH:C538104"], "leaf": false, "category_std": ["disease"], "id_std": "OMIM:260300", "iri": "http://purl.obolibrary.org/obo/OMIM_260300", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_171695", "http://purl.obolibrary.org/obo/UMLS_CN200292", "http://purl.obolibrary.org/obo/UMLS_C1850100", "http://purl.obolibrary.org/obo/DOID_0060372", "http://purl.obolibrary.org/obo/MESH_C538104"], "label_eng": ["autosomal recessive early-onset Parkinson disease 15", "Parkinson disease 15", "Parkinson Disease 15, Autosomal Recessive Early-Onset"], "definition_std": ["A Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3."], "id_eng": "OMIM:260300", "definition_kw": ["A Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_171695", "http://purl.obolibrary.org/obo/UMLS_CN200292", "http://purl.obolibrary.org/obo/UMLS_C1850100", "http://purl.obolibrary.org/obo/DOID_0060372", "http://purl.obolibrary.org/obo/MESH_C538104"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_260300", "label_std": ["autosomal recessive early-onset Parkinson disease 15", "Parkinson disease 15", "Parkinson Disease 15, Autosomal Recessive Early-Onset"], "equivalent_curie": ["Orphanet:171695", "UMLS:CN200292", "UMLS:C1850100", "DOID:0060372", "MESH:C538104"], "equivalent_curie_kw": ["Orphanet:171695", "UMLS:CN200292", "UMLS:C1850100", "DOID:0060372", "MESH:C538104"], "synonym_eng": ["PARK15", "PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15", "Parkinsonian-Pyramidal Syndrome", "Parkinsonian-pyramidal syndrome", "pallidopyramidal syndrome", "Pallidopyramidal Syndrome", "Parkinson Disease 15, Autosomal Recessive", "Pallido-pyramidal disease", "Pallidopyramidal syndrome", "Pallido-Pyramidal Syndrome", "autosomal recessive early-onset Parkinson disease type 15"], "score": 29.433455, "id_kw": "OMIM:260300", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_171695", "http://purl.obolibrary.org/obo/UMLS_CN200292", "http://purl.obolibrary.org/obo/UMLS_C1850100", "http://purl.obolibrary.org/obo/DOID_0060372", "http://purl.obolibrary.org/obo/MESH_C538104"], "label_kw": ["autosomal recessive early-onset Parkinson disease 15", "Parkinson disease 15", "Parkinson Disease 15, Autosomal Recessive Early-Onset"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_260300", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_171695", "http://purl.obolibrary.org/obo/UMLS_CN200292", "http://purl.obolibrary.org/obo/UMLS_C1850100", "http://purl.obolibrary.org/obo/DOID_0060372", "http://purl.obolibrary.org/obo/MESH_C538104"], "_version_": 1580845511968030720, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_260300", "id": "OMIM:260300", "definition": ["A Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3."], "synonym_kw": ["PARK15", "PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15", "Parkinsonian-Pyramidal Syndrome", "Parkinsonian-pyramidal syndrome", "pallidopyramidal syndrome", "Pallidopyramidal Syndrome", "Parkinson Disease 15, Autosomal Recessive", "Pallido-pyramidal disease", "Pallidopyramidal syndrome", "Pallido-Pyramidal Syndrome", "autosomal recessive early-onset Parkinson disease type 15"], "synonym_std": ["PARK15", "PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15", "Parkinsonian-Pyramidal Syndrome", "Parkinsonian-pyramidal syndrome", "pallidopyramidal syndrome", "Pallidopyramidal Syndrome", "Parkinson Disease 15, Autosomal Recessive", "Pallido-pyramidal disease", "Pallidopyramidal syndrome", "Pallido-Pyramidal Syndrome", "autosomal recessive early-onset Parkinson disease type 15"], "label": ["autosomal recessive early-onset Parkinson disease 15", "Parkinson disease 15", "Parkinson Disease 15, Autosomal Recessive Early-Onset"], "definition_eng": ["A Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3."], "equivalent_curie_std": ["Orphanet:171695", "UMLS:CN200292", "UMLS:C1850100", "DOID:0060372", "MESH:C538104"], "category": ["disease"]}, {"synonym": ["Lubag syndrome", "DYT3", "X-Linked Dystonia-Parkinsonism Syndrome", "Torsion Dystonia-Parkinsonism, Filipino Type", "XDP", "X-Linked Torsion Dystonia-Parkinsonism Syndrome", "Dystonia-Parkinsonism, X-Linked", "Lubag", "X-Linked Dystonia-Parkinsonism", "DYSTONIA 3, TORSION, X-LINKED; DYT3", "Lubag Syndrome"], "equivalent_curie_eng": ["MESH:C564048", "Orphanet:53351", "UMLS:C1839130", "DOID:0090057"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:314250", "iri": "http://purl.obolibrary.org/obo/OMIM_314250", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/MESH_C564048", "http://www.orpha.net/ORDO/Orphanet_53351", "http://purl.obolibrary.org/obo/UMLS_C1839130", "http://purl.obolibrary.org/obo/DOID_0090057"], "label_eng": ["X-linked dystonia-parkinsonism", "Dystonia 3, Torsion, X-Linked", "Dystonia 3, torsion, X-linked"], "definition_std": ["X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course."], "id_eng": "OMIM:314250", "definition_kw": ["X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/MESH_C564048", "http://www.orpha.net/ORDO/Orphanet_53351", "http://purl.obolibrary.org/obo/UMLS_C1839130", "http://purl.obolibrary.org/obo/DOID_0090057"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_314250", "label_std": ["X-linked dystonia-parkinsonism", "Dystonia 3, Torsion, X-Linked", "Dystonia 3, torsion, X-linked"], "equivalent_curie": ["MESH:C564048", "Orphanet:53351", "UMLS:C1839130", "DOID:0090057"], "equivalent_curie_kw": ["MESH:C564048", "Orphanet:53351", "UMLS:C1839130", "DOID:0090057"], "synonym_eng": ["Lubag syndrome", "DYT3", "X-Linked Dystonia-Parkinsonism Syndrome", "Torsion Dystonia-Parkinsonism, Filipino Type", "XDP", "X-Linked Torsion Dystonia-Parkinsonism Syndrome", "Dystonia-Parkinsonism, X-Linked", "Lubag", "X-Linked Dystonia-Parkinsonism", "DYSTONIA 3, TORSION, X-LINKED; DYT3", "Lubag Syndrome"], "score": 29.433455, "id_kw": "OMIM:314250", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/MESH_C564048", "http://www.orpha.net/ORDO/Orphanet_53351", "http://purl.obolibrary.org/obo/UMLS_C1839130", "http://purl.obolibrary.org/obo/DOID_0090057"], "label_kw": ["X-linked dystonia-parkinsonism", "Dystonia 3, Torsion, X-Linked", "Dystonia 3, torsion, X-linked"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_314250", "equivalent_iri": ["http://purl.obolibrary.org/obo/MESH_C564048", "http://www.orpha.net/ORDO/Orphanet_53351", "http://purl.obolibrary.org/obo/UMLS_C1839130", "http://purl.obolibrary.org/obo/DOID_0090057"], "_version_": 1580845512296235008, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_314250", "id": "OMIM:314250", "definition": ["X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course."], "synonym_kw": ["Lubag syndrome", "DYT3", "X-Linked Dystonia-Parkinsonism Syndrome", "Torsion Dystonia-Parkinsonism, Filipino Type", "XDP", "X-Linked Torsion Dystonia-Parkinsonism Syndrome", "Dystonia-Parkinsonism, X-Linked", "Lubag", "X-Linked Dystonia-Parkinsonism", "DYSTONIA 3, TORSION, X-LINKED; DYT3", "Lubag Syndrome"], "synonym_std": ["Lubag syndrome", "DYT3", "X-Linked Dystonia-Parkinsonism Syndrome", "Torsion Dystonia-Parkinsonism, Filipino Type", "XDP", "X-Linked Torsion Dystonia-Parkinsonism Syndrome", "Dystonia-Parkinsonism, X-Linked", "Lubag", "X-Linked Dystonia-Parkinsonism", "DYSTONIA 3, TORSION, X-LINKED; DYT3", "Lubag Syndrome"], "label": ["X-linked dystonia-parkinsonism", "Dystonia 3, Torsion, X-Linked", "Dystonia 3, torsion, X-linked"], "definition_eng": ["X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course."], "equivalent_curie_std": ["MESH:C564048", "Orphanet:53351", "UMLS:C1839130", "DOID:0090057"], "category": ["disease"]}, {"synonym": ["PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6", "autosomal recessive early-onset Parkinson disease type 6", "Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1", "early-onset Parkinson disease 6", "Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1-Dj1", "PARK6", "Parkinson Disease 6, Late-Onset, Susceptibility to", "Parkinson Disease 6, Early-Onset"], "equivalent_curie_eng": ["UMLS:C2751533", "UMLS:C1853833", "DOID:0060369", "MESH:C565276"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:605909", "iri": "http://purl.obolibrary.org/obo/OMIM_605909", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C2751533", "http://purl.obolibrary.org/obo/UMLS_C1853833", "http://purl.obolibrary.org/obo/DOID_0060369", "http://purl.obolibrary.org/obo/MESH_C565276"], "label_eng": ["Parkinson Disease 6, Autosomal Recessive Early-Onset", "Parkinson disease 6, autosomal recessive early-onset", "autosomal recessive early-onset Parkinson disease 6"], "definition_std": ["A Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12."], "id_eng": "OMIM:605909", "definition_kw": ["A Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C2751533", "http://purl.obolibrary.org/obo/UMLS_C1853833", "http://purl.obolibrary.org/obo/DOID_0060369", "http://purl.obolibrary.org/obo/MESH_C565276"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_605909", "label_std": ["Parkinson Disease 6, Autosomal Recessive Early-Onset", "Parkinson disease 6, autosomal recessive early-onset", "autosomal recessive early-onset Parkinson disease 6"], "equivalent_curie": ["UMLS:C2751533", "UMLS:C1853833", "DOID:0060369", "MESH:C565276"], "equivalent_curie_kw": ["UMLS:C2751533", "UMLS:C1853833", "DOID:0060369", "MESH:C565276"], "synonym_eng": ["PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6", "autosomal recessive early-onset Parkinson disease type 6", "Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1", "early-onset Parkinson disease 6", "Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1-Dj1", "PARK6", "Parkinson Disease 6, Late-Onset, Susceptibility to", "Parkinson Disease 6, Early-Onset"], "score": 29.263151, "id_kw": "OMIM:605909", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C2751533", "http://purl.obolibrary.org/obo/UMLS_C1853833", "http://purl.obolibrary.org/obo/DOID_0060369", "http://purl.obolibrary.org/obo/MESH_C565276"], "label_kw": ["Parkinson Disease 6, Autosomal Recessive Early-Onset", "Parkinson disease 6, autosomal recessive early-onset", "autosomal recessive early-onset Parkinson disease 6"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_605909", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C2751533", "http://purl.obolibrary.org/obo/UMLS_C1853833", "http://purl.obolibrary.org/obo/DOID_0060369", "http://purl.obolibrary.org/obo/MESH_C565276"], "_version_": 1580845510325960704, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_605909", "id": "OMIM:605909", "definition": ["A Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12."], "synonym_kw": ["PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6", "autosomal recessive early-onset Parkinson disease type 6", "Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1", "early-onset Parkinson disease 6", "Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1-Dj1", "PARK6", "Parkinson Disease 6, Late-Onset, Susceptibility to", "Parkinson Disease 6, Early-Onset"], "synonym_std": ["PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6", "autosomal recessive early-onset Parkinson disease type 6", "Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1", "early-onset Parkinson disease 6", "Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1-Dj1", "PARK6", "Parkinson Disease 6, Late-Onset, Susceptibility to", "Parkinson Disease 6, Early-Onset"], "label": ["Parkinson Disease 6, Autosomal Recessive Early-Onset", "Parkinson disease 6, autosomal recessive early-onset", "autosomal recessive early-onset Parkinson disease 6"], "definition_eng": ["A Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12."], "equivalent_curie_std": ["UMLS:C2751533", "UMLS:C1853833", "DOID:0060369", "MESH:C565276"], "category": ["disease"]}, {"synonym": ["Syndrome, Wolf-Parkinson-White", "Anomalous Ventricular Excitation Syndrome", "Preexcitation Syndrome", "Wolff Parkinson White Syndrome", "WOLFF-PARKINSON-WHITE SYNDROME", "Accessory Atrioventricular Pathways", "Syndrome, WPW", "Ventricular Pre-Excitation with Arrhythmia", "Wolff-Parkinson-White pattern (finding)", "WPW Syndrome", "Wpw Syndrome", "Syndrome, Wolff-Parkinson-White", "anomalous atrioventricular excitation", "Anomalous A-V excitation", "Wolf Parkinson White Syndrome", "Wolf-Parkinson-White Syndrome", "Auriculoventricular Accessory Pathway Syndrome", "False Bundle-Branch Block Syndrome"], "equivalent_curie_eng": ["UMLS:C0043202", "DOID:384", "MESH:D014927"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:194200", "iri": "http://purl.obolibrary.org/obo/OMIM_194200", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C0043202", "http://purl.obolibrary.org/obo/DOID_384", "http://purl.obolibrary.org/obo/MESH_D014927"], "label_eng": ["Wolff-Parkinson-White Syndrome", "Wolff-Parkinson-White syndrome", "Wolff-Parkinson-White pattern"], "definition_std": ["A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase."], "id_eng": "OMIM:194200", "definition_kw": ["A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C0043202", "http://purl.obolibrary.org/obo/DOID_384", "http://purl.obolibrary.org/obo/MESH_D014927"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_194200", "label_std": ["Wolff-Parkinson-White Syndrome", "Wolff-Parkinson-White syndrome", "Wolff-Parkinson-White pattern"], "equivalent_curie": ["UMLS:C0043202", "DOID:384", "MESH:D014927"], "equivalent_curie_kw": ["UMLS:C0043202", "DOID:384", "MESH:D014927"], "synonym_eng": ["Syndrome, Wolf-Parkinson-White", "Anomalous Ventricular Excitation Syndrome", "Preexcitation Syndrome", "Wolff Parkinson White Syndrome", "WOLFF-PARKINSON-WHITE SYNDROME", "Accessory Atrioventricular Pathways", "Syndrome, WPW", "Ventricular Pre-Excitation with Arrhythmia", "Wolff-Parkinson-White pattern (finding)", "WPW Syndrome", "Wpw Syndrome", "Syndrome, Wolff-Parkinson-White", "anomalous atrioventricular excitation", "Anomalous A-V excitation", "Wolf Parkinson White Syndrome", "Wolf-Parkinson-White Syndrome", "Auriculoventricular Accessory Pathway Syndrome", "False Bundle-Branch Block Syndrome"], "score": 29.263151, "id_kw": "OMIM:194200", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C0043202", "http://purl.obolibrary.org/obo/DOID_384", "http://purl.obolibrary.org/obo/MESH_D014927"], "label_kw": ["Wolff-Parkinson-White Syndrome", "Wolff-Parkinson-White syndrome", "Wolff-Parkinson-White pattern"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_194200", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C0043202", "http://purl.obolibrary.org/obo/DOID_384", "http://purl.obolibrary.org/obo/MESH_D014927"], "_version_": 1580845512913846272, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_194200", "id": "OMIM:194200", "definition": ["A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase."], "synonym_kw": ["Syndrome, Wolf-Parkinson-White", "Anomalous Ventricular Excitation Syndrome", "Preexcitation Syndrome", "Wolff Parkinson White Syndrome", "WOLFF-PARKINSON-WHITE SYNDROME", "Accessory Atrioventricular Pathways", "Syndrome, WPW", "Ventricular Pre-Excitation with Arrhythmia", "Wolff-Parkinson-White pattern (finding)", "WPW Syndrome", "Wpw Syndrome", "Syndrome, Wolff-Parkinson-White", "anomalous atrioventricular excitation", "Anomalous A-V excitation", "Wolf Parkinson White Syndrome", "Wolf-Parkinson-White Syndrome", "Auriculoventricular Accessory Pathway Syndrome", "False Bundle-Branch Block Syndrome"], "synonym_std": ["Syndrome, Wolf-Parkinson-White", "Anomalous Ventricular Excitation Syndrome", "Preexcitation Syndrome", "Wolff Parkinson White Syndrome", "WOLFF-PARKINSON-WHITE SYNDROME", "Accessory Atrioventricular Pathways", "Syndrome, WPW", "Ventricular Pre-Excitation with Arrhythmia", "Wolff-Parkinson-White pattern (finding)", "WPW Syndrome", "Wpw Syndrome", "Syndrome, Wolff-Parkinson-White", "anomalous atrioventricular excitation", "Anomalous A-V excitation", "Wolf Parkinson White Syndrome", "Wolf-Parkinson-White Syndrome", "Auriculoventricular Accessory Pathway Syndrome", "False Bundle-Branch Block Syndrome"], "label": ["Wolff-Parkinson-White Syndrome", "Wolff-Parkinson-White syndrome", "Wolff-Parkinson-White pattern"], "definition_eng": ["A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase."], "equivalent_curie_std": ["UMLS:C0043202", "DOID:384", "MESH:D014927"], "category": ["disease"]}, {"synonym": ["PARKINSON DISEASE 22, AUTOSOMAL DOMINANT; PARK22", "PARK22", "Parkinson Disease 22, Autosomal Dominant"], "equivalent_curie_eng": ["UMLS:C4225238", "UMLS:CN234663"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:616710", "iri": "http://purl.obolibrary.org/obo/OMIM_616710", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C4225238", "http://purl.obolibrary.org/obo/UMLS_CN234663"], "label_eng": ["Parkinson disease 22, autosomal dominant", "Parkinson Disease 22, Autosomal Dominant; PARK22", "Parkinson Disease 22, Autosomal Dominant"], "equivalent_curie_std": ["UMLS:C4225238", "UMLS:CN234663"], "id_eng": "OMIM:616710", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C4225238", "http://purl.obolibrary.org/obo/UMLS_CN234663"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_616710", "label_std": ["Parkinson disease 22, autosomal dominant", "Parkinson Disease 22, Autosomal Dominant; PARK22", "Parkinson Disease 22, Autosomal Dominant"], "equivalent_curie": ["UMLS:C4225238", "UMLS:CN234663"], "equivalent_curie_kw": ["UMLS:C4225238", "UMLS:CN234663"], "synonym_eng": ["PARKINSON DISEASE 22, AUTOSOMAL DOMINANT; PARK22", "PARK22", "Parkinson Disease 22, Autosomal Dominant"], "score": 29.187597, "id_kw": "OMIM:616710", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C4225238", "http://purl.obolibrary.org/obo/UMLS_CN234663"], "label_kw": ["Parkinson disease 22, autosomal dominant", "Parkinson Disease 22, Autosomal Dominant; PARK22", "Parkinson Disease 22, Autosomal Dominant"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_616710", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C4225238", "http://purl.obolibrary.org/obo/UMLS_CN234663"], "_version_": 1580845545350496257, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_616710", "id": "OMIM:616710", "synonym_kw": ["PARKINSON DISEASE 22, AUTOSOMAL DOMINANT; PARK22", "PARK22", "Parkinson Disease 22, Autosomal Dominant"], "synonym_std": ["PARKINSON DISEASE 22, AUTOSOMAL DOMINANT; PARK22", "PARK22", "Parkinson Disease 22, Autosomal Dominant"], "label": ["Parkinson disease 22, autosomal dominant", "Parkinson Disease 22, Autosomal Dominant; PARK22", "Parkinson Disease 22, Autosomal Dominant"], "category": ["disease"]}, {"synonym": ["Parkinson disease 7 domain-containing protein 1", "PDDC1", "Parkinson disease 7 domain containing 1"], "taxon_kw": "NCBITaxon:13616", "leaf": true, "category_std": ["gene"], "id_std": "NCBIGene:100030192", "iri": "http://www.ncbi.nlm.nih.gov/gene/100030192", "taxon_label_synonym_eng": ["gray short-tailed opossum", "Monodelphis domesticus"], "taxon_label_synonym_kw": ["gray short-tailed opossum", "Monodelphis domesticus"], "label_eng": ["GATD1"], "id_eng": "NCBIGene:100030192", "taxon_label_synonym_std": ["gray short-tailed opossum", "Monodelphis domesticus"], "taxon_std": "NCBITaxon:13616", "category_kw": ["gene"], "taxon_label_synonym": ["gray short-tailed opossum", "Monodelphis domesticus"], "taxon_label_std": "Monodelphis domestica", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/100030192", "label_std": ["GATD1"], "taxon_label_kw": "Monodelphis domestica", "synonym_eng": ["Parkinson disease 7 domain-containing protein 1", "PDDC1", "Parkinson disease 7 domain containing 1"], "taxon_label_eng": "Monodelphis domestica", "taxon": "NCBITaxon:13616", "taxon_label": "Monodelphis domestica", "id_kw": "NCBIGene:100030192", "label_kw": ["GATD1"], "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/100030192", "taxon_eng": "NCBITaxon:13616", "_version_": 1580845623992647680, "category_eng": ["gene"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/100030192", "id": "NCBIGene:100030192", "synonym_kw": ["Parkinson disease 7 domain-containing protein 1", "PDDC1", "Parkinson disease 7 domain containing 1"], "synonym_std": ["Parkinson disease 7 domain-containing protein 1", "PDDC1", "Parkinson disease 7 domain containing 1"], "label": ["GATD1"], "score": 29.187597, "category": ["gene"]}, {"synonym": ["Parkinson disease 7 domain-containing protein 1", "pddc1", "Parkinson disease 7 domain containing 1"], "equivalent_curie_eng": ["ENSEMBL:ENSACAG00000015262"], "taxon_kw": "NCBITaxon:28377", "leaf": true, "category_std": ["gene"], "id_std": "NCBIGene:100552437", "iri": "http://www.ncbi.nlm.nih.gov/gene/100552437", "taxon_label_synonym_eng": ["Carolina anole", "green anole"], "taxon_label_synonym_kw": ["Carolina anole", "green anole"], "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSACAG00000015262"], "label_eng": ["gatd1"], "equivalent_curie_std": ["ENSEMBL:ENSACAG00000015262"], "id_eng": "NCBIGene:100552437", "taxon_label_synonym_std": ["Carolina anole", "green anole"], "taxon_std": "NCBITaxon:28377", "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSACAG00000015262"], "category_kw": ["gene"], "taxon_label_synonym": ["Carolina anole", "green anole"], "equivalent_curie_kw": ["ENSEMBL:ENSACAG00000015262"], "taxon_label_std": "Anolis carolinensis", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/100552437", "label_std": ["gatd1"], "taxon_label_kw": "Anolis carolinensis", "synonym_eng": ["Parkinson disease 7 domain-containing protein 1", "pddc1", "Parkinson disease 7 domain containing 1"], "equivalent_curie": ["ENSEMBL:ENSACAG00000015262"], "taxon_label_eng": "Anolis carolinensis", "taxon": "NCBITaxon:28377", "taxon_label": "Anolis carolinensis", "id_kw": "NCBIGene:100552437", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSACAG00000015262"], "label_kw": ["gatd1"], "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/100552437", "equivalent_iri": ["http://identifiers.org/ensembl/ENSACAG00000015262"], "taxon_eng": "NCBITaxon:28377", "_version_": 1580845652453097473, "category_eng": ["gene"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/100552437", "id": "NCBIGene:100552437", "synonym_kw": ["Parkinson disease 7 domain-containing protein 1", "pddc1", "Parkinson disease 7 domain containing 1"], "synonym_std": ["Parkinson disease 7 domain-containing protein 1", "pddc1", "Parkinson disease 7 domain containing 1"], "label": ["gatd1"], "score": 29.187597, "category": ["gene"]}, {"synonym": ["Parkinson disease 7 domain-containing protein 1", "PDDC1", "Parkinson disease 7 domain containing 1"], "taxon_kw": "NCBITaxon:9258", "leaf": true, "category_std": ["gene"], "id_std": "NCBIGene:100083988", "iri": "http://www.ncbi.nlm.nih.gov/gene/100083988", "taxon_label_synonym_eng": ["platypus", "Ornythorhynchus anatinus", "duckbill platypus", "duck-billed platypus"], "taxon_label_synonym_kw": ["platypus", "Ornythorhynchus anatinus", "duckbill platypus", "duck-billed platypus"], "label_eng": ["GATD1"], "id_eng": "NCBIGene:100083988", "taxon_label_synonym_std": ["platypus", "Ornythorhynchus anatinus", "duckbill platypus", "duck-billed platypus"], "taxon_std": "NCBITaxon:9258", "category_kw": ["gene"], "taxon_label_synonym": ["platypus", "Ornythorhynchus anatinus", "duckbill platypus", "duck-billed platypus"], "taxon_label_std": "Ornithorhynchus anatinus", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/100083988", "label_std": ["GATD1"], "taxon_label_kw": "Ornithorhynchus anatinus", "synonym_eng": ["Parkinson disease 7 domain-containing protein 1", "PDDC1", "Parkinson disease 7 domain containing 1"], "taxon_label_eng": "Ornithorhynchus anatinus", "taxon": "NCBITaxon:9258", "taxon_label": "Ornithorhynchus anatinus", "id_kw": "NCBIGene:100083988", "label_kw": ["GATD1"], "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/100083988", "taxon_eng": "NCBITaxon:9258", "_version_": 1580845667552591874, "category_eng": ["gene"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/100083988", "id": "NCBIGene:100083988", "synonym_kw": ["Parkinson disease 7 domain-containing protein 1", "PDDC1", "Parkinson disease 7 domain containing 1"], "synonym_std": ["Parkinson disease 7 domain-containing protein 1", "PDDC1", "Parkinson disease 7 domain containing 1"], "label": ["GATD1"], "score": 29.187597, "category": ["gene"]}, {"synonym": ["Parkinson disease 7 domain-containing protein 1", "PDDC1", "Parkinson disease 7 domain containing 1"], "taxon_kw": "NCBITaxon:9685", "leaf": true, "category_std": ["gene"], "id_std": "NCBIGene:101082778", "iri": "http://www.ncbi.nlm.nih.gov/gene/101082778", "taxon_label_synonym_eng": ["cats", "cat", "domestic cat", "Felis silvestris catus", "Felis domesticus"], "taxon_label_synonym_kw": ["cats", "cat", "domestic cat", "Felis silvestris catus", "Felis domesticus"], "label_eng": ["GATD1"], "id_eng": "NCBIGene:101082778", "taxon_label_synonym_std": ["cats", "cat", "domestic cat", "Felis silvestris catus", "Felis domesticus"], "taxon_std": "NCBITaxon:9685", "category_kw": ["gene"], "taxon_label_synonym": ["cats", "cat", "domestic cat", "Felis silvestris catus", "Felis domesticus"], "taxon_label_std": "Felis catus", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/101082778", "label_std": ["GATD1"], "taxon_label_kw": "Felis catus", "synonym_eng": ["Parkinson disease 7 domain-containing protein 1", "PDDC1", "Parkinson disease 7 domain containing 1"], "taxon_label_eng": "Felis catus", "taxon": "NCBITaxon:9685", "taxon_label": "Felis catus", "id_kw": "NCBIGene:101082778", "label_kw": ["GATD1"], "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/101082778", "taxon_eng": "NCBITaxon:9685", "_version_": 1580845704486584322, "category_eng": ["gene"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/101082778", "id": "NCBIGene:101082778", "synonym_kw": ["Parkinson disease 7 domain-containing protein 1", "PDDC1", "Parkinson disease 7 domain containing 1"], "synonym_std": ["Parkinson disease 7 domain-containing protein 1", "PDDC1", "Parkinson disease 7 domain containing 1"], "label": ["GATD1"], "score": 29.187597, "category": ["gene"]}, {"synonym": ["Parkinson disease 7 domain-containing protein 1", "PDDC1", "Parkinson disease 7 domain containing 1"], "equivalent_curie_eng": ["ENSEMBL:ENSSSCG00000012846"], "taxon_kw": "NCBITaxon:9823", "leaf": true, "category_std": ["gene"], "id_std": "NCBIGene:100511802", "iri": "http://www.ncbi.nlm.nih.gov/gene/100511802", "taxon_label_synonym_eng": ["swine", "pigs", "wild boar", "Sus scrofus", "pig"], "taxon_label_synonym_kw": ["swine", "pigs", "wild boar", "Sus scrofus", "pig"], "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSSSCG00000012846"], "label_eng": ["GATD1"], "equivalent_curie_std": ["ENSEMBL:ENSSSCG00000012846"], "id_eng": "NCBIGene:100511802", "taxon_label_synonym_std": ["swine", "pigs", "wild boar", "Sus scrofus", "pig"], "taxon_std": "NCBITaxon:9823", "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSSSCG00000012846"], "category_kw": ["gene"], "taxon_label_synonym": ["swine", "pigs", "wild boar", "Sus scrofus", "pig"], "equivalent_curie_kw": ["ENSEMBL:ENSSSCG00000012846"], "taxon_label_std": "Sus scrofa", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/100511802", "label_std": ["GATD1"], "taxon_label_kw": "Sus scrofa", "synonym_eng": ["Parkinson disease 7 domain-containing protein 1", "PDDC1", "Parkinson disease 7 domain containing 1"], "equivalent_curie": ["ENSEMBL:ENSSSCG00000012846"], "taxon_label_eng": "Sus scrofa", "taxon": "NCBITaxon:9823", "taxon_label": "Sus scrofa", "id_kw": "NCBIGene:100511802", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSSSCG00000012846"], "label_kw": ["GATD1"], "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/100511802", "equivalent_iri": ["http://identifiers.org/ensembl/ENSSSCG00000012846"], "taxon_eng": "NCBITaxon:9823", "_version_": 1580845697662451714, "category_eng": ["gene"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/100511802", "id": "NCBIGene:100511802", "synonym_kw": ["Parkinson disease 7 domain-containing protein 1", "PDDC1", "Parkinson disease 7 domain containing 1"], "synonym_std": ["Parkinson disease 7 domain-containing protein 1", "PDDC1", "Parkinson disease 7 domain containing 1"], "label": ["GATD1"], "score": 29.187597, "category": ["gene"]}, {"synonym": ["Parkinson disease 7 domain-containing protein 1", "PDDC1", "Parkinson disease 7 domain containing 1"], "taxon_kw": "NCBITaxon:9544", "leaf": true, "category_std": ["gene"], "id_std": "NCBIGene:720833", "iri": "http://www.ncbi.nlm.nih.gov/gene/720833", "taxon_label_synonym_eng": ["Rhesus monkey", "rhesus macaque", "rhesus monkeys", "rhesus macaques"], "taxon_label_synonym_kw": ["Rhesus monkey", "rhesus macaque", "rhesus monkeys", "rhesus macaques"], "label_eng": ["GATD1"], "id_eng": "NCBIGene:720833", "taxon_label_synonym_std": ["Rhesus monkey", "rhesus macaque", "rhesus monkeys", "rhesus macaques"], "taxon_std": "NCBITaxon:9544", "category_kw": ["gene"], "taxon_label_synonym": ["Rhesus monkey", "rhesus macaque", "rhesus monkeys", "rhesus macaques"], "taxon_label_std": "Macaca mulatta", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/720833", "label_std": ["GATD1"], "taxon_label_kw": "Macaca mulatta", "synonym_eng": ["Parkinson disease 7 domain-containing protein 1", "PDDC1", "Parkinson disease 7 domain containing 1"], "taxon_label_eng": "Macaca mulatta", "taxon": "NCBITaxon:9544", "taxon_label": "Macaca mulatta", "id_kw": "NCBIGene:720833", "label_kw": ["GATD1"], "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/720833", "taxon_eng": "NCBITaxon:9544", "_version_": 1580845645186465794, "category_eng": ["gene"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/720833", "id": "NCBIGene:720833", "synonym_kw": ["Parkinson disease 7 domain-containing protein 1", "PDDC1", "Parkinson disease 7 domain containing 1"], "synonym_std": ["Parkinson disease 7 domain-containing protein 1", "PDDC1", "Parkinson disease 7 domain containing 1"], "label": ["GATD1"], "score": 29.187597, "category": ["gene"]}, {"synonym": ["Parkinson disease 7 domain-containing protein 1", "Parkinson disease 7 domain containing 1"], "equivalent_curie_eng": ["ENSEMBL:ENSGALG00000035676"], "taxon_kw": "NCBITaxon:9031", "leaf": true, "category_std": ["gene"], "id_std": "NCBIGene:423020", "iri": "http://www.ncbi.nlm.nih.gov/gene/423020", "taxon_label_synonym_eng": ["chickens", "chicken", "bantam", "Gallus domesticus", "Gallus gallus domesticus"], "taxon_label_synonym_kw": ["chickens", "chicken", "bantam", "Gallus domesticus", "Gallus gallus domesticus"], "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSGALG00000035676"], "label_eng": ["PDDC1"], "equivalent_curie_std": ["ENSEMBL:ENSGALG00000035676"], "id_eng": "NCBIGene:423020", "taxon_label_synonym_std": ["chickens", "chicken", "bantam", "Gallus domesticus", "Gallus gallus domesticus"], "taxon_std": "NCBITaxon:9031", "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSGALG00000035676"], "category_kw": ["gene"], "taxon_label_synonym": ["chickens", "chicken", "bantam", "Gallus domesticus", "Gallus gallus domesticus"], "equivalent_curie_kw": ["ENSEMBL:ENSGALG00000035676"], "taxon_label_std": "Gallus gallus", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/423020", "label_std": ["PDDC1"], "taxon_label_kw": "Gallus gallus", "synonym_eng": ["Parkinson disease 7 domain-containing protein 1", "Parkinson disease 7 domain containing 1"], "equivalent_curie": ["ENSEMBL:ENSGALG00000035676"], "taxon_label_eng": "Gallus gallus", "taxon": "NCBITaxon:9031", "taxon_label": "Gallus gallus", "id_kw": "NCBIGene:423020", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSGALG00000035676"], "label_kw": ["PDDC1"], "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/423020", "equivalent_iri": ["http://identifiers.org/ensembl/ENSGALG00000035676"], "taxon_eng": "NCBITaxon:9031", "_version_": 1580845660780888065, "category_eng": ["gene"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/423020", "id": "NCBIGene:423020", "synonym_kw": ["Parkinson disease 7 domain-containing protein 1", "Parkinson disease 7 domain containing 1"], "synonym_std": ["Parkinson disease 7 domain-containing protein 1", "Parkinson disease 7 domain containing 1"], "label": ["PDDC1"], "score": 29.187597, "category": ["gene"]}, {"synonym": ["PARK13", "PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13"], "equivalent_curie_eng": ["UMLS:C1853202"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:610297", "iri": "http://purl.obolibrary.org/obo/OMIM_610297", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C1853202"], "label_eng": ["Parkinson Disease 13, Autosomal Dominant, Susceptibility to", "Parkinson disease 13"], "equivalent_curie_std": ["UMLS:C1853202"], "id_eng": "OMIM:610297", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C1853202"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_610297", "label_std": ["Parkinson Disease 13, Autosomal Dominant, Susceptibility to", "Parkinson disease 13"], "equivalent_curie": ["UMLS:C1853202"], "equivalent_curie_kw": ["UMLS:C1853202"], "synonym_eng": ["PARK13", "PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13"], "score": 28.409204, "id_kw": "OMIM:610297", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C1853202"], "label_kw": ["Parkinson Disease 13, Autosomal Dominant, Susceptibility to", "Parkinson disease 13"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_610297", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C1853202"], "_version_": 1580845511278067712, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_610297", "id": "OMIM:610297", "synonym_kw": ["PARK13", "PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13"], "synonym_std": ["PARK13", "PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13"], "label": ["Parkinson Disease 13, Autosomal Dominant, Susceptibility to", "Parkinson disease 13"], "category": ["disease"]}, {"synonym": ["PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK18", "PARK18"], "equivalent_curie_eng": ["UMLS:C3280271"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:614251", "iri": "http://purl.obolibrary.org/obo/OMIM_614251", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3280271"], "label_eng": ["Parkinson disease 18", "Parkinson Disease 18, Autosomal Dominant, Susceptibility to"], "definition_std": ["See http://www.omim.org/entry/614251", "Parkinson disease-18 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by {1:Chartier-Harlin et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see OMIM:168600."], "id_eng": "OMIM:614251", "definition_kw": ["See http://www.omim.org/entry/614251", "Parkinson disease-18 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by {1:Chartier-Harlin et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see OMIM:168600."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3280271"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_614251", "label_std": ["Parkinson disease 18", "Parkinson Disease 18, Autosomal Dominant, Susceptibility to"], "equivalent_curie": ["UMLS:C3280271"], "equivalent_curie_kw": ["UMLS:C3280271"], "synonym_eng": ["PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK18", "PARK18"], "score": 28.409204, "id_kw": "OMIM:614251", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3280271"], "label_kw": ["Parkinson disease 18", "Parkinson Disease 18, Autosomal Dominant, Susceptibility to"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_614251", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3280271"], "_version_": 1580845545020194817, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_614251", "id": "OMIM:614251", "definition": ["See http://www.omim.org/entry/614251", "Parkinson disease-18 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by {1:Chartier-Harlin et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see OMIM:168600."], "synonym_kw": ["PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK18", "PARK18"], "synonym_std": ["PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK18", "PARK18"], "label": ["Parkinson disease 18", "Parkinson Disease 18, Autosomal Dominant, Susceptibility to"], "definition_eng": ["See http://www.omim.org/entry/614251", "Parkinson disease-18 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by {1:Chartier-Harlin et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see OMIM:168600."], "equivalent_curie_std": ["UMLS:C3280271"], "category": ["disease"]}, {"synonym": ["PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5", "PARK5"], "equivalent_curie_eng": ["UMLS:C3150899"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:613643", "iri": "http://purl.obolibrary.org/obo/OMIM_613643", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3150899"], "label_eng": ["Parkinson disease 5", "Parkinson Disease 5, Autosomal Dominant, Susceptibility to"], "equivalent_curie_std": ["UMLS:C3150899"], "id_eng": "OMIM:613643", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3150899"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_613643", "label_std": ["Parkinson disease 5", "Parkinson Disease 5, Autosomal Dominant, Susceptibility to"], "equivalent_curie": ["UMLS:C3150899"], "equivalent_curie_kw": ["UMLS:C3150899"], "synonym_eng": ["PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5", "PARK5"], "score": 28.409204, "id_kw": "OMIM:613643", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3150899"], "label_kw": ["Parkinson disease 5", "Parkinson Disease 5, Autosomal Dominant, Susceptibility to"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_613643", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3150899"], "_version_": 1580845545124003840, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_613643", "id": "OMIM:613643", "synonym_kw": ["PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5", "PARK5"], "synonym_std": ["PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5", "PARK5"], "label": ["Parkinson disease 5", "Parkinson Disease 5, Autosomal Dominant, Susceptibility to"], "category": ["disease"]}, {"synonym": ["PARK11", "PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11"], "equivalent_curie_eng": ["UMLS:C1843211"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:607688", "iri": "http://purl.obolibrary.org/obo/OMIM_607688", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C1843211"], "label_eng": ["Parkinson disease 11", "Parkinson Disease 11, Autosomal Dominant, Susceptibility to"], "equivalent_curie_std": ["UMLS:C1843211"], "id_eng": "OMIM:607688", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C1843211"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_607688", "label_std": ["Parkinson disease 11", "Parkinson Disease 11, Autosomal Dominant, Susceptibility to"], "equivalent_curie": ["UMLS:C1843211"], "equivalent_curie_kw": ["UMLS:C1843211"], "synonym_eng": ["PARK11", "PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11"], "score": 28.409204, "id_kw": "OMIM:607688", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C1843211"], "label_kw": ["Parkinson disease 11", "Parkinson Disease 11, Autosomal Dominant, Susceptibility to"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_607688", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C1843211"], "_version_": 1580845545128198145, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_607688", "id": "OMIM:607688", "synonym_kw": ["PARK11", "PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11"], "synonym_std": ["PARK11", "PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11"], "label": ["Parkinson disease 11", "Parkinson Disease 11, Autosomal Dominant, Susceptibility to"], "category": ["disease"]}, {"synonym": ["PARKINSON DISEASE, MITOCHONDRIAL"], "equivalent_curie_eng": ["UMLS:C1838867", "MESH:C564015"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:556500", "iri": "http://purl.obolibrary.org/obo/OMIM_556500", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C1838867", "http://purl.obolibrary.org/obo/MESH_C564015"], "label_eng": ["Parkinson disease, mitochondrial", "Parkinson Disease, Mitochondrial"], "equivalent_curie_std": ["UMLS:C1838867", "MESH:C564015"], "id_eng": "OMIM:556500", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C1838867", "http://purl.obolibrary.org/obo/MESH_C564015"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_556500", "label_std": ["Parkinson disease, mitochondrial", "Parkinson Disease, Mitochondrial"], "equivalent_curie": ["UMLS:C1838867", "MESH:C564015"], "equivalent_curie_kw": ["UMLS:C1838867", "MESH:C564015"], "synonym_eng": ["PARKINSON DISEASE, MITOCHONDRIAL"], "score": 28.409204, "id_kw": "OMIM:556500", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C1838867", "http://purl.obolibrary.org/obo/MESH_C564015"], "label_kw": ["Parkinson disease, mitochondrial", "Parkinson Disease, Mitochondrial"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_556500", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C1838867", "http://purl.obolibrary.org/obo/MESH_C564015"], "_version_": 1580845545388244992, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_556500", "id": "OMIM:556500", "synonym_kw": ["PARKINSON DISEASE, MITOCHONDRIAL"], "synonym_std": ["PARKINSON DISEASE, MITOCHONDRIAL"], "label": ["Parkinson disease, mitochondrial", "Parkinson Disease, Mitochondrial"], "category": ["disease"]}, {"synonym": ["Parkinsonism with alveolar hypoventilation and mental depression", "parkinsonism with alveolar hypoventilation and mental depression", "PERRY SYNDROME", "Parkinsonism With Alveolar Hypoventilation and Mental Depression", "Parkinsonism with Alveolar Hypoventilation and Mental Depression"], "equivalent_curie_eng": ["Orphanet:178509", "UMLS:C1868594", "DOID:0060486", "MESH:C566822"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:168605", "iri": "http://purl.obolibrary.org/obo/OMIM_168605", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_178509", "http://purl.obolibrary.org/obo/UMLS_C1868594", "http://purl.obolibrary.org/obo/DOID_0060486", "http://purl.obolibrary.org/obo/MESH_C566822"], "label_eng": ["Perry syndrome", "Perry Syndrome"], "definition_std": ["Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.", "Perry syndrome is an autosomal dominant neurodegenerative disorder classically characterized by adult-onset parkinsonism and depression, followed by weight loss and respiratory hypoventilation ({5:Perry et al., 1975}). The phenotype has subsequently been expanded to include features that overlap with other neurodegenerative conditions, including frontotemporal dementia (see, e.g., OMIM:600274) and progressive supranuclear palsy (PSP; OMIM:601104). There is intrafamilial variation in the manifestations of the disorder (summary by {1:Caroppo et al., 2014}; review by {10:Wider et al., 2010}).\n\nMutation in the DCTN1 gene can also cause distal motor neuronopathy type VIIB (HMN7B; OMIM:607641) and confer increased susceptibility to amyotrophic lateral sclerosis (ALS; see OMIM:105400)."], "id_eng": "OMIM:168605", "definition_kw": ["Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.", "Perry syndrome is an autosomal dominant neurodegenerative disorder classically characterized by adult-onset parkinsonism and depression, followed by weight loss and respiratory hypoventilation ({5:Perry et al., 1975}). The phenotype has subsequently been expanded to include features that overlap with other neurodegenerative conditions, including frontotemporal dementia (see, e.g., OMIM:600274) and progressive supranuclear palsy (PSP; OMIM:601104). There is intrafamilial variation in the manifestations of the disorder (summary by {1:Caroppo et al., 2014}; review by {10:Wider et al., 2010}).\n\nMutation in the DCTN1 gene can also cause distal motor neuronopathy type VIIB (HMN7B; OMIM:607641) and confer increased susceptibility to amyotrophic lateral sclerosis (ALS; see OMIM:105400)."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_178509", "http://purl.obolibrary.org/obo/UMLS_C1868594", "http://purl.obolibrary.org/obo/DOID_0060486", "http://purl.obolibrary.org/obo/MESH_C566822"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_168605", "label_std": ["Perry syndrome", "Perry Syndrome"], "equivalent_curie": ["Orphanet:178509", "UMLS:C1868594", "DOID:0060486", "MESH:C566822"], "equivalent_curie_kw": ["Orphanet:178509", "UMLS:C1868594", "DOID:0060486", "MESH:C566822"], "synonym_eng": ["Parkinsonism with alveolar hypoventilation and mental depression", "parkinsonism with alveolar hypoventilation and mental depression", "PERRY SYNDROME", "Parkinsonism With Alveolar Hypoventilation and Mental Depression", "Parkinsonism with Alveolar Hypoventilation and Mental Depression"], "score": 27.94211, "id_kw": "OMIM:168605", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_178509", "http://purl.obolibrary.org/obo/UMLS_C1868594", "http://purl.obolibrary.org/obo/DOID_0060486", "http://purl.obolibrary.org/obo/MESH_C566822"], "label_kw": ["Perry syndrome", "Perry Syndrome"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_168605", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_178509", "http://purl.obolibrary.org/obo/UMLS_C1868594", "http://purl.obolibrary.org/obo/DOID_0060486", "http://purl.obolibrary.org/obo/MESH_C566822"], "_version_": 1580845512211300352, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_168605", "id": "OMIM:168605", "definition": ["Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.", "Perry syndrome is an autosomal dominant neurodegenerative disorder classically characterized by adult-onset parkinsonism and depression, followed by weight loss and respiratory hypoventilation ({5:Perry et al., 1975}). The phenotype has subsequently been expanded to include features that overlap with other neurodegenerative conditions, including frontotemporal dementia (see, e.g., OMIM:600274) and progressive supranuclear palsy (PSP; OMIM:601104). There is intrafamilial variation in the manifestations of the disorder (summary by {1:Caroppo et al., 2014}; review by {10:Wider et al., 2010}).\n\nMutation in the DCTN1 gene can also cause distal motor neuronopathy type VIIB (HMN7B; OMIM:607641) and confer increased susceptibility to amyotrophic lateral sclerosis (ALS; see OMIM:105400)."], "synonym_kw": ["Parkinsonism with alveolar hypoventilation and mental depression", "parkinsonism with alveolar hypoventilation and mental depression", "PERRY SYNDROME", "Parkinsonism With Alveolar Hypoventilation and Mental Depression", "Parkinsonism with Alveolar Hypoventilation and Mental Depression"], "synonym_std": ["Parkinsonism with alveolar hypoventilation and mental depression", "parkinsonism with alveolar hypoventilation and mental depression", "PERRY SYNDROME", "Parkinsonism With Alveolar Hypoventilation and Mental Depression", "Parkinsonism with Alveolar Hypoventilation and Mental Depression"], "label": ["Perry syndrome", "Perry Syndrome"], "definition_eng": ["Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.", "Perry syndrome is an autosomal dominant neurodegenerative disorder classically characterized by adult-onset parkinsonism and depression, followed by weight loss and respiratory hypoventilation ({5:Perry et al., 1975}). The phenotype has subsequently been expanded to include features that overlap with other neurodegenerative conditions, including frontotemporal dementia (see, e.g., OMIM:600274) and progressive supranuclear palsy (PSP; OMIM:601104). There is intrafamilial variation in the manifestations of the disorder (summary by {1:Caroppo et al., 2014}; review by {10:Wider et al., 2010}).\n\nMutation in the DCTN1 gene can also cause distal motor neuronopathy type VIIB (HMN7B; OMIM:607641) and confer increased susceptibility to amyotrophic lateral sclerosis (ALS; see OMIM:105400)."], "equivalent_curie_std": ["Orphanet:178509", "UMLS:C1868594", "DOID:0060486", "MESH:C566822"], "category": ["disease"]}, {"synonym": ["PRKN", "Parkinson disease (autosomal recessive, juvenile) 2, parkin", "PRKN_HUMAN", "PDJ", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "LPRS2", "parkin RBR E3 ubiquitin protein ligase", "AR-JP", "PARK2", "parkinson juvenile disease protein 2", "E3 ubiquitin-protein ligase parkin", "parkinson protein 2 E3 ubiquitin protein ligase"], "equivalent_curie_eng": ["HGNC:8607", "Orphanet:124080", "KEGG-hsa:5071", "OMIM:602544", "ENSEMBL:ENSG00000185345"], "taxon_kw": "NCBITaxon:9606", "leaf": true, "category_std": ["gene"], "id_std": "NCBIGene:5071", "iri": "http://www.ncbi.nlm.nih.gov/gene/5071", "taxon_label_synonym_eng": ["Human", "man", "human", "humans"], "taxon_label_synonym_kw": ["Human", "man", "human", "humans"], "equivalent_iri_kw": ["http://identifiers.org/hgnc/HGNC:8607", "http://www.orpha.net/ORDO/Orphanet_124080", "http://www.kegg.jp/dbget-bin/www_bget?hsa:5071", "http://purl.obolibrary.org/obo/OMIM_602544", "http://identifiers.org/ensembl/ENSG00000185345"], "label_eng": ["PRKN"], "equivalent_curie_std": ["HGNC:8607", "Orphanet:124080", "KEGG-hsa:5071", "OMIM:602544", "ENSEMBL:ENSG00000185345"], "id_eng": "NCBIGene:5071", "taxon_label_synonym_std": ["Human", "man", "human", "humans"], "taxon_std": "NCBITaxon:9606", "equivalent_iri_std": ["http://identifiers.org/hgnc/HGNC:8607", "http://www.orpha.net/ORDO/Orphanet_124080", "http://www.kegg.jp/dbget-bin/www_bget?hsa:5071", "http://purl.obolibrary.org/obo/OMIM_602544", "http://identifiers.org/ensembl/ENSG00000185345"], "category_kw": ["gene"], "taxon_label_synonym": ["Human", "man", "human", "humans"], "equivalent_curie_kw": ["HGNC:8607", "Orphanet:124080", "KEGG-hsa:5071", "OMIM:602544", "ENSEMBL:ENSG00000185345"], "taxon_label_std": "Homo sapiens", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/5071", "label_std": ["PRKN"], "taxon_label_kw": "Homo sapiens", "synonym_eng": ["PRKN", "Parkinson disease (autosomal recessive, juvenile) 2, parkin", "PRKN_HUMAN", "PDJ", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "LPRS2", "parkin RBR E3 ubiquitin protein ligase", "AR-JP", "PARK2", "parkinson juvenile disease protein 2", "E3 ubiquitin-protein ligase parkin", "parkinson protein 2 E3 ubiquitin protein ligase"], "equivalent_curie": ["HGNC:8607", "Orphanet:124080", "KEGG-hsa:5071", "OMIM:602544", "ENSEMBL:ENSG00000185345"], "taxon_label_eng": "Homo sapiens", "taxon": "NCBITaxon:9606", "taxon_label": "Homo sapiens", "id_kw": "NCBIGene:5071", "equivalent_iri_eng": ["http://identifiers.org/hgnc/HGNC:8607", "http://www.orpha.net/ORDO/Orphanet_124080", "http://www.kegg.jp/dbget-bin/www_bget?hsa:5071", "http://purl.obolibrary.org/obo/OMIM_602544", "http://identifiers.org/ensembl/ENSG00000185345"], "label_kw": ["PRKN"], "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/5071", "equivalent_iri": ["http://identifiers.org/hgnc/HGNC:8607", "http://www.orpha.net/ORDO/Orphanet_124080", "http://www.kegg.jp/dbget-bin/www_bget?hsa:5071", "http://purl.obolibrary.org/obo/OMIM_602544", "http://identifiers.org/ensembl/ENSG00000185345"], "taxon_eng": "NCBITaxon:9606", "_version_": 1580845527587618816, "category_eng": ["gene"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/5071", "id": "NCBIGene:5071", "synonym_kw": ["PRKN", "Parkinson disease (autosomal recessive, juvenile) 2, parkin", "PRKN_HUMAN", "PDJ", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "LPRS2", "parkin RBR E3 ubiquitin protein ligase", "AR-JP", "PARK2", "parkinson juvenile disease protein 2", "E3 ubiquitin-protein ligase parkin", "parkinson protein 2 E3 ubiquitin protein ligase"], "synonym_std": ["PRKN", "Parkinson disease (autosomal recessive, juvenile) 2, parkin", "PRKN_HUMAN", "PDJ", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "LPRS2", "parkin RBR E3 ubiquitin protein ligase", "AR-JP", "PARK2", "parkinson juvenile disease protein 2", "E3 ubiquitin-protein ligase parkin", "parkinson protein 2 E3 ubiquitin protein ligase"], "label": ["PRKN"], "score": 27.94211, "category": ["gene"]}, {"synonym": ["dystonia type 12", "DYSTONIA 12; DYT12", "Rapid-onset dystonia-parkinsonism", "Dyt12", "DYT12", "Dystonia-Parkinsonism, Rapid-Onset", "Rapid-Onset Dystonia Parkinsonism", "Dystonia type 12", "Dystonia 12"], "equivalent_curie_eng": ["Orphanet:71517", "UMLS:C1868681", "MESH:C538001", "DOID:0090056"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:128235", "iri": "http://purl.obolibrary.org/obo/OMIM_128235", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_71517", "http://purl.obolibrary.org/obo/UMLS_C1868681", "http://purl.obolibrary.org/obo/MESH_C538001", "http://purl.obolibrary.org/obo/DOID_0090056"], "label_eng": ["dystonia 12", "Dystonia 12"], "definition_std": ["Dystonia-12, also known as rapid-onset dystonia-parkinsonism, is an autosomal dominant disorder characterized by abrupt onset of asymmetric dystonia and parkinsonism in young adulthood, often after a trigger such as physical overexertion, trauma, heat, or fever. Affected individuals also show slowly progressive nonparoxysmal neurologic deterioration in a rostrocaudal gradient with prominent bulbar dysfunction (summary by {11:Rosewich et al., 2014}).", "Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress."], "id_eng": "OMIM:128235", "definition_kw": ["Dystonia-12, also known as rapid-onset dystonia-parkinsonism, is an autosomal dominant disorder characterized by abrupt onset of asymmetric dystonia and parkinsonism in young adulthood, often after a trigger such as physical overexertion, trauma, heat, or fever. Affected individuals also show slowly progressive nonparoxysmal neurologic deterioration in a rostrocaudal gradient with prominent bulbar dysfunction (summary by {11:Rosewich et al., 2014}).", "Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_71517", "http://purl.obolibrary.org/obo/UMLS_C1868681", "http://purl.obolibrary.org/obo/MESH_C538001", "http://purl.obolibrary.org/obo/DOID_0090056"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_128235", "label_std": ["dystonia 12", "Dystonia 12"], "equivalent_curie": ["Orphanet:71517", "UMLS:C1868681", "MESH:C538001", "DOID:0090056"], "equivalent_curie_kw": ["Orphanet:71517", "UMLS:C1868681", "MESH:C538001", "DOID:0090056"], "synonym_eng": ["dystonia type 12", "DYSTONIA 12; DYT12", "Rapid-onset dystonia-parkinsonism", "Dyt12", "DYT12", "Dystonia-Parkinsonism, Rapid-Onset", "Rapid-Onset Dystonia Parkinsonism", "Dystonia type 12", "Dystonia 12"], "score": 27.829445, "id_kw": "OMIM:128235", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_71517", "http://purl.obolibrary.org/obo/UMLS_C1868681", "http://purl.obolibrary.org/obo/MESH_C538001", "http://purl.obolibrary.org/obo/DOID_0090056"], "label_kw": ["dystonia 12", "Dystonia 12"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_128235", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_71517", "http://purl.obolibrary.org/obo/UMLS_C1868681", "http://purl.obolibrary.org/obo/MESH_C538001", "http://purl.obolibrary.org/obo/DOID_0090056"], "_version_": 1580845510230540288, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_128235", "id": "OMIM:128235", "definition": ["Dystonia-12, also known as rapid-onset dystonia-parkinsonism, is an autosomal dominant disorder characterized by abrupt onset of asymmetric dystonia and parkinsonism in young adulthood, often after a trigger such as physical overexertion, trauma, heat, or fever. Affected individuals also show slowly progressive nonparoxysmal neurologic deterioration in a rostrocaudal gradient with prominent bulbar dysfunction (summary by {11:Rosewich et al., 2014}).", "Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress."], "synonym_kw": ["dystonia type 12", "DYSTONIA 12; DYT12", "Rapid-onset dystonia-parkinsonism", "Dyt12", "DYT12", "Dystonia-Parkinsonism, Rapid-Onset", "Rapid-Onset Dystonia Parkinsonism", "Dystonia type 12", "Dystonia 12"], "synonym_std": ["dystonia type 12", "DYSTONIA 12; DYT12", "Rapid-onset dystonia-parkinsonism", "Dyt12", "DYT12", "Dystonia-Parkinsonism, Rapid-Onset", "Rapid-Onset Dystonia Parkinsonism", "Dystonia type 12", "Dystonia 12"], "label": ["dystonia 12", "Dystonia 12"], "definition_eng": ["Dystonia-12, also known as rapid-onset dystonia-parkinsonism, is an autosomal dominant disorder characterized by abrupt onset of asymmetric dystonia and parkinsonism in young adulthood, often after a trigger such as physical overexertion, trauma, heat, or fever. Affected individuals also show slowly progressive nonparoxysmal neurologic deterioration in a rostrocaudal gradient with prominent bulbar dysfunction (summary by {11:Rosewich et al., 2014}).", "Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress."], "equivalent_curie_std": ["Orphanet:71517", "UMLS:C1868681", "MESH:C538001", "DOID:0090056"], "category": ["disease"]}, {"synonym": ["Parkinson disease 7 domain-containing protein 1", "parkinson disease 7 domain-containing protein 1", "PDDC1", "Parkinson disease 7 domain containing 1", "glutamine amidotransferase-like class 1 domain-containing protein 1"], "equivalent_curie_eng": ["ENSEMBL:ENSBTAG00000010348"], "taxon_kw": "NCBITaxon:9913", "leaf": true, "category_std": ["gene"], "id_std": "NCBIGene:513454", "iri": "http://www.ncbi.nlm.nih.gov/gene/513454", "taxon_label_synonym_eng": ["Bos bovis", "Bos Tauurus", "domestic cattle", "domestic cow", "bovine", "cow", "cattle", "Bos primigenius taurus"], "taxon_label_synonym_kw": ["Bos bovis", "Bos Tauurus", "domestic cattle", "domestic cow", "bovine", "cow", "cattle", "Bos primigenius taurus"], "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSBTAG00000010348"], "label_eng": ["GATD1"], "equivalent_curie_std": ["ENSEMBL:ENSBTAG00000010348"], "id_eng": "NCBIGene:513454", "taxon_label_synonym_std": ["Bos bovis", "Bos Tauurus", "domestic cattle", "domestic cow", "bovine", "cow", "cattle", "Bos primigenius taurus"], "taxon_std": "NCBITaxon:9913", "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSBTAG00000010348"], "category_kw": ["gene"], "taxon_label_synonym": ["Bos bovis", "Bos Tauurus", "domestic cattle", "domestic cow", "bovine", "cow", "cattle", "Bos primigenius taurus"], "equivalent_curie_kw": ["ENSEMBL:ENSBTAG00000010348"], "taxon_label_std": "Bos taurus", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/513454", "label_std": ["GATD1"], "taxon_label_kw": "Bos taurus", "synonym_eng": ["Parkinson disease 7 domain-containing protein 1", "parkinson disease 7 domain-containing protein 1", "PDDC1", "Parkinson disease 7 domain containing 1", "glutamine amidotransferase-like class 1 domain-containing protein 1"], "equivalent_curie": ["ENSEMBL:ENSBTAG00000010348"], "taxon_label_eng": "Bos taurus", "taxon": "NCBITaxon:9913", "taxon_label": "Bos taurus", "id_kw": "NCBIGene:513454", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSBTAG00000010348"], "label_kw": ["GATD1"], "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/513454", "equivalent_iri": ["http://identifiers.org/ensembl/ENSBTAG00000010348"], "taxon_eng": "NCBITaxon:9913", "_version_": 1580845700762042371, "category_eng": ["gene"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/513454", "id": "NCBIGene:513454", "synonym_kw": ["Parkinson disease 7 domain-containing protein 1", "parkinson disease 7 domain-containing protein 1", "PDDC1", "Parkinson disease 7 domain containing 1", "glutamine amidotransferase-like class 1 domain-containing protein 1"], "synonym_std": ["Parkinson disease 7 domain-containing protein 1", "parkinson disease 7 domain-containing protein 1", "PDDC1", "Parkinson disease 7 domain containing 1", "glutamine amidotransferase-like class 1 domain-containing protein 1"], "label": ["GATD1"], "score": 27.829445, "category": ["gene"]}, {"label_std": ["Parkinson's disease (PD)"], "label_kw": ["Parkinson's disease (PD)"], "leaf": true, "category_std": ["disease"], "id_std": "KEGG-ds:H00057", "iri": "http://purl.obolibrary.org/KEGG-ds_H00057", "iri_eng": "http://purl.obolibrary.org/KEGG-ds_H00057", "label_eng": ["Parkinson's disease (PD)"], "iri_kw": "http://purl.obolibrary.org/KEGG-ds_H00057", "id_eng": "KEGG-ds:H00057", "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/KEGG-ds_H00057", "id": "KEGG-ds:H00057", "category_kw": ["disease"], "label": ["Parkinson's disease (PD)"], "score": 27.646196, "_version_": 1580845542758416388, "id_kw": "KEGG-ds:H00057", "category": ["disease"]}, {"label_std": ["Parkinsonian syndrome"], "label_kw": ["Parkinsonian syndrome"], "leaf": true, "category_std": ["disease"], "id_std": "KEGG-ds:H01600", "iri": "http://purl.obolibrary.org/KEGG-ds_H01600", "iri_eng": "http://purl.obolibrary.org/KEGG-ds_H01600", "label_eng": ["Parkinsonian syndrome"], "iri_kw": "http://purl.obolibrary.org/KEGG-ds_H01600", "id_eng": "KEGG-ds:H01600", "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/KEGG-ds_H01600", "id": "KEGG-ds:H01600", "category_kw": ["disease"], "label": ["Parkinsonian syndrome"], "score": 27.646196, "_version_": 1580845543276412932, "id_kw": "KEGG-ds:H01600", "category": ["disease"]}, {"synonym": ["Parkinson Disease type 13"], "equivalent_curie_eng": ["UMLS:C3496588"], "leaf": true, "category_std": ["disease"], "id_std": "MESH:C565204", "iri": "http://purl.obolibrary.org/obo/MESH_C565204", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3496588"], "label_eng": ["Parkinson Disease 13"], "equivalent_curie_std": ["UMLS:C3496588"], "id_eng": "MESH:C565204", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3496588"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/MESH_C565204", "label_std": ["Parkinson Disease 13"], "equivalent_curie": ["UMLS:C3496588"], "equivalent_curie_kw": ["UMLS:C3496588"], "synonym_eng": ["Parkinson Disease type 13"], "score": 27.646196, "id_kw": "MESH:C565204", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3496588"], "label_kw": ["Parkinson Disease 13"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_C565204", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3496588"], "_version_": 1580845611515641858, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/MESH_C565204", "id": "MESH:C565204", "synonym_kw": ["Parkinson Disease type 13"], "synonym_std": ["Parkinson Disease type 13"], "label": ["Parkinson Disease 13"], "category": ["disease"]}, {"synonym": ["Parkinson Disease type 8"], "equivalent_curie_eng": ["UMLS:C3501658", "UMLS:C1846862"], "leaf": true, "category_std": ["disease"], "id_std": "MESH:C564631", "iri": "http://purl.obolibrary.org/obo/MESH_C564631", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3501658", "http://purl.obolibrary.org/obo/UMLS_C1846862"], "label_eng": ["Parkinson Disease 8"], "equivalent_curie_std": ["UMLS:C3501658", "UMLS:C1846862"], "id_eng": "MESH:C564631", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3501658", "http://purl.obolibrary.org/obo/UMLS_C1846862"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/MESH_C564631", "label_std": ["Parkinson Disease 8"], "equivalent_curie": ["UMLS:C3501658", "UMLS:C1846862"], "equivalent_curie_kw": ["UMLS:C3501658", "UMLS:C1846862"], "synonym_eng": ["Parkinson Disease type 8"], "score": 27.646196, "id_kw": "MESH:C564631", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3501658", "http://purl.obolibrary.org/obo/UMLS_C1846862"], "label_kw": ["Parkinson Disease 8"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_C564631", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3501658", "http://purl.obolibrary.org/obo/UMLS_C1846862"], "_version_": 1580845611601625091, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/MESH_C564631", "id": "MESH:C564631", "synonym_kw": ["Parkinson Disease type 8"], "synonym_std": ["Parkinson Disease type 8"], "label": ["Parkinson Disease 8"], "category": ["disease"]}, {"synonym": ["Parkinson Disease type 11"], "leaf": true, "category_std": ["disease"], "id_std": "MESH:C564345", "iri": "http://purl.obolibrary.org/obo/MESH_C564345", "label_eng": ["Parkinson Disease 11"], "id_eng": "MESH:C564345", "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/MESH_C564345", "label_std": ["Parkinson Disease 11"], "synonym_eng": ["Parkinson Disease type 11"], "score": 27.646196, "id_kw": "MESH:C564345", "label_kw": ["Parkinson Disease 11"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_C564345", "_version_": 1580845611606867970, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/MESH_C564345", "id": "MESH:C564345", "synonym_kw": ["Parkinson Disease type 11"], "synonym_std": ["Parkinson Disease type 11"], "label": ["Parkinson Disease 11"], "category": ["disease"]}, {"synonym": ["Parkinson Disease type 5"], "equivalent_curie_eng": ["UMLS:C3501657"], "leaf": true, "category_std": ["disease"], "id_std": "MESH:C566017", "iri": "http://purl.obolibrary.org/obo/MESH_C566017", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3501657"], "label_eng": ["Parkinson Disease 5"], "equivalent_curie_std": ["UMLS:C3501657"], "id_eng": "MESH:C566017", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3501657"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/MESH_C566017", "label_std": ["Parkinson Disease 5"], "equivalent_curie": ["UMLS:C3501657"], "equivalent_curie_kw": ["UMLS:C3501657"], "synonym_eng": ["Parkinson Disease type 5"], "score": 27.646196, "id_kw": "MESH:C566017", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3501657"], "label_kw": ["Parkinson Disease 5"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_C566017", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3501657"], "_version_": 1580845611811340288, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/MESH_C566017", "id": "MESH:C566017", "synonym_kw": ["Parkinson Disease type 5"], "synonym_std": ["Parkinson Disease type 5"], "label": ["Parkinson Disease 5"], "category": ["disease"]}, {"label_std": ["Parkinson's disease"], "label_kw": ["Parkinson's disease"], "leaf": true, "category_std": ["disease"], "id_std": "EFO:0002508", "iri": "http://www.ebi.ac.uk/efo/EFO_0002508", "iri_eng": "http://www.ebi.ac.uk/efo/EFO_0002508", "label_eng": ["Parkinson's disease"], "iri_kw": "http://www.ebi.ac.uk/efo/EFO_0002508", "id_eng": "EFO:0002508", "category_eng": ["disease"], "iri_std": "http://www.ebi.ac.uk/efo/EFO_0002508", "id": "EFO:0002508", "category_kw": ["disease"], "label": ["Parkinson's disease"], "score": 27.646196, "_version_": 1580845573512101892, "id_kw": "EFO:0002508", "category": ["disease"]}, {"synonym": ["Parkinson disease type 3"], "equivalent_curie_eng": ["UMLS:C2931436"], "leaf": true, "category_std": ["disease"], "id_std": "MESH:C537176", "iri": "http://purl.obolibrary.org/obo/MESH_C537176", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C2931436"], "label_eng": ["Parkinson disease 3"], "equivalent_curie_std": ["UMLS:C2931436"], "id_eng": "MESH:C537176", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C2931436"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/MESH_C537176", "label_std": ["Parkinson disease 3"], "equivalent_curie": ["UMLS:C2931436"], "equivalent_curie_kw": ["UMLS:C2931436"], "synonym_eng": ["Parkinson disease type 3"], "score": 27.646196, "id_kw": "MESH:C537176", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C2931436"], "label_kw": ["Parkinson disease 3"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_C537176", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C2931436"], "_version_": 1580845620812316674, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/MESH_C537176", "id": "MESH:C537176", "synonym_kw": ["Parkinson disease type 3"], "synonym_std": ["Parkinson disease type 3"], "label": ["Parkinson disease 3"], "category": ["disease"]}, {"synonym": ["PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8", "PARK8", "autosomal dominant Parkinson disease type 8"], "equivalent_curie_eng": ["DOID:0060371"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:607060", "iri": "http://purl.obolibrary.org/obo/OMIM_607060", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/DOID_0060371"], "label_eng": ["autosomal dominant Parkinson disease 8", "Parkinson Disease 8, Autosomal Dominant", "Parkinson disease 8, autosomal dominant"], "definition_std": ["A Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene (LRRK2) on chromosome 12q12."], "id_eng": "OMIM:607060", "definition_kw": ["A Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene (LRRK2) on chromosome 12q12."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/DOID_0060371"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_607060", "label_std": ["autosomal dominant Parkinson disease 8", "Parkinson Disease 8, Autosomal Dominant", "Parkinson disease 8, autosomal dominant"], "equivalent_curie": ["DOID:0060371"], "equivalent_curie_kw": ["DOID:0060371"], "synonym_eng": ["PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8", "PARK8", "autosomal dominant Parkinson disease type 8"], "score": 27.588133, "id_kw": "OMIM:607060", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/DOID_0060371"], "label_kw": ["autosomal dominant Parkinson disease 8", "Parkinson Disease 8, Autosomal Dominant", "Parkinson disease 8, autosomal dominant"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_607060", "equivalent_iri": ["http://purl.obolibrary.org/obo/DOID_0060371"], "_version_": 1580845511519240192, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_607060", "id": "OMIM:607060", "definition": ["A Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene (LRRK2) on chromosome 12q12."], "synonym_kw": ["PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8", "PARK8", "autosomal dominant Parkinson disease type 8"], "synonym_std": ["PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8", "PARK8", "autosomal dominant Parkinson disease type 8"], "label": ["autosomal dominant Parkinson disease 8", "Parkinson Disease 8, Autosomal Dominant", "Parkinson disease 8, autosomal dominant"], "definition_eng": ["A Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene (LRRK2) on chromosome 12q12."], "equivalent_curie_std": ["DOID:0060371"], "category": ["disease"]}, {"synonym": ["autosomal recessive early-onset Parkinson disease type 7", "PARK7", "PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7"], "equivalent_curie_eng": ["UMLS:C1853445", "DOID:0060370", "MESH:C565238"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:606324", "iri": "http://purl.obolibrary.org/obo/OMIM_606324", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C1853445", "http://purl.obolibrary.org/obo/DOID_0060370", "http://purl.obolibrary.org/obo/MESH_C565238"], "label_eng": ["Parkinson disease 7", "Parkinson Disease 7, Autosomal Recessive Early-Onset", "autosomal recessive early-onset Parkinson disease 7"], "definition_std": ["A Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36."], "id_eng": "OMIM:606324", "definition_kw": ["A Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C1853445", "http://purl.obolibrary.org/obo/DOID_0060370", "http://purl.obolibrary.org/obo/MESH_C565238"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_606324", "label_std": ["Parkinson disease 7", "Parkinson Disease 7, Autosomal Recessive Early-Onset", "autosomal recessive early-onset Parkinson disease 7"], "equivalent_curie": ["UMLS:C1853445", "DOID:0060370", "MESH:C565238"], "equivalent_curie_kw": ["UMLS:C1853445", "DOID:0060370", "MESH:C565238"], "synonym_eng": ["autosomal recessive early-onset Parkinson disease type 7", "PARK7", "PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7"], "score": 27.588133, "id_kw": "OMIM:606324", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C1853445", "http://purl.obolibrary.org/obo/DOID_0060370", "http://purl.obolibrary.org/obo/MESH_C565238"], "label_kw": ["Parkinson disease 7", "Parkinson Disease 7, Autosomal Recessive Early-Onset", "autosomal recessive early-onset Parkinson disease 7"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_606324", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C1853445", "http://purl.obolibrary.org/obo/DOID_0060370", "http://purl.obolibrary.org/obo/MESH_C565238"], "_version_": 1580845511921893376, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_606324", "id": "OMIM:606324", "definition": ["A Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36."], "synonym_kw": ["autosomal recessive early-onset Parkinson disease type 7", "PARK7", "PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7"], "synonym_std": ["autosomal recessive early-onset Parkinson disease type 7", "PARK7", "PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7"], "label": ["Parkinson disease 7", "Parkinson Disease 7, Autosomal Recessive Early-Onset", "autosomal recessive early-onset Parkinson disease 7"], "definition_eng": ["A Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36."], "equivalent_curie_std": ["UMLS:C1853445", "DOID:0060370", "MESH:C565238"], "category": ["disease"]}, {"synonym": ["PARK20", "early-onset Parkinson disease type 20", "PARKINSON DISEASE 20, EARLY-ONSET; PARK20"], "equivalent_curie_eng": ["UMLS:C3809824", "DOID:0060898"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:615530", "iri": "http://purl.obolibrary.org/obo/OMIM_615530", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3809824", "http://purl.obolibrary.org/obo/DOID_0060898"], "label_eng": ["Parkinson disease 20, early-onset", "early-onset Parkinson disease 20", "Parkinson Disease 20, Early-Onset"], "definition_std": ["Parkinson disease-20 is an autosomal recessive neurodegenerative disorder characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia (summary by {2:Krebs et al., 2013} and {3:Quadri et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (OMIM:168600).", "An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22."], "id_eng": "OMIM:615530", "definition_kw": ["Parkinson disease-20 is an autosomal recessive neurodegenerative disorder characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia (summary by {2:Krebs et al., 2013} and {3:Quadri et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (OMIM:168600).", "An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3809824", "http://purl.obolibrary.org/obo/DOID_0060898"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_615530", "label_std": ["Parkinson disease 20, early-onset", "early-onset Parkinson disease 20", "Parkinson Disease 20, Early-Onset"], "equivalent_curie": ["UMLS:C3809824", "DOID:0060898"], "equivalent_curie_kw": ["UMLS:C3809824", "DOID:0060898"], "synonym_eng": ["PARK20", "early-onset Parkinson disease type 20", "PARKINSON DISEASE 20, EARLY-ONSET; PARK20"], "score": 27.588133, "id_kw": "OMIM:615530", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3809824", "http://purl.obolibrary.org/obo/DOID_0060898"], "label_kw": ["Parkinson disease 20, early-onset", "early-onset Parkinson disease 20", "Parkinson Disease 20, Early-Onset"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_615530", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3809824", "http://purl.obolibrary.org/obo/DOID_0060898"], "_version_": 1580845544642707456, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_615530", "id": "OMIM:615530", "definition": ["Parkinson disease-20 is an autosomal recessive neurodegenerative disorder characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia (summary by {2:Krebs et al., 2013} and {3:Quadri et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (OMIM:168600).", "An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22."], "synonym_kw": ["PARK20", "early-onset Parkinson disease type 20", "PARKINSON DISEASE 20, EARLY-ONSET; PARK20"], "synonym_std": ["PARK20", "early-onset Parkinson disease type 20", "PARKINSON DISEASE 20, EARLY-ONSET; PARK20"], "label": ["Parkinson disease 20, early-onset", "early-onset Parkinson disease 20", "Parkinson Disease 20, Early-Onset"], "definition_eng": ["Parkinson disease-20 is an autosomal recessive neurodegenerative disorder characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia (summary by {2:Krebs et al., 2013} and {3:Quadri et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (OMIM:168600).", "An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22."], "equivalent_curie_std": ["UMLS:C3809824", "DOID:0060898"], "category": ["disease"]}, {"synonym": ["PSP-parkinsonism", "Supranuclear Palsy, Progressive, 1, Atypical", "Steele-Richardson-Olszewski Syndrome, Atypical", "PARKINSON-DEMENTIA SYNDROME", "PSP-p"], "equivalent_curie_eng": ["UMLS:CN201680", "Orphanet:240085"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:260540", "iri": "http://purl.obolibrary.org/obo/OMIM_260540", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_CN201680", "http://www.orpha.net/ORDO/Orphanet_240085"], "label_eng": ["Parkinson-Dementia Syndrome", "Progressive supranuclear palsy-parkinsonism syndrome"], "definition_std": ["PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease."], "id_eng": "OMIM:260540", "definition_kw": ["PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_CN201680", "http://www.orpha.net/ORDO/Orphanet_240085"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_260540", "label_std": ["Parkinson-Dementia Syndrome", "Progressive supranuclear palsy-parkinsonism syndrome"], "equivalent_curie": ["UMLS:CN201680", "Orphanet:240085"], "equivalent_curie_kw": ["UMLS:CN201680", "Orphanet:240085"], "synonym_eng": ["PSP-parkinsonism", "Supranuclear Palsy, Progressive, 1, Atypical", "Steele-Richardson-Olszewski Syndrome, Atypical", "PARKINSON-DEMENTIA SYNDROME", "PSP-p"], "score": 27.588133, "id_kw": "OMIM:260540", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_CN201680", "http://www.orpha.net/ORDO/Orphanet_240085"], "label_kw": ["Parkinson-Dementia Syndrome", "Progressive supranuclear palsy-parkinsonism syndrome"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_260540", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_CN201680", "http://www.orpha.net/ORDO/Orphanet_240085"], "_version_": 1580845544792653825, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_260540", "id": "OMIM:260540", "definition": ["PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease."], "synonym_kw": ["PSP-parkinsonism", "Supranuclear Palsy, Progressive, 1, Atypical", "Steele-Richardson-Olszewski Syndrome, Atypical", "PARKINSON-DEMENTIA SYNDROME", "PSP-p"], "synonym_std": ["PSP-parkinsonism", "Supranuclear Palsy, Progressive, 1, Atypical", "Steele-Richardson-Olszewski Syndrome, Atypical", "PARKINSON-DEMENTIA SYNDROME", "PSP-p"], "label": ["Parkinson-Dementia Syndrome", "Progressive supranuclear palsy-parkinsonism syndrome"], "definition_eng": ["PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease."], "equivalent_curie_std": ["UMLS:CN201680", "Orphanet:240085"], "category": ["disease"]}, {"synonym": ["Parkinson Disease, Juvenile, of Hunt", "PARALYSIS AGITANS, JUVENILE, OF HUNT", "Parkinson Disease, Juvenile, Of Hunt"], "equivalent_curie_eng": ["UMLS:C0238344", "MESH:C562469"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:168100", "iri": "http://purl.obolibrary.org/obo/OMIM_168100", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C0238344", "http://purl.obolibrary.org/obo/MESH_C562469"], "label_eng": ["Paralysis Agitans, Juvenile, of Hunt"], "equivalent_curie_std": ["UMLS:C0238344", "MESH:C562469"], "id_eng": "OMIM:168100", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C0238344", "http://purl.obolibrary.org/obo/MESH_C562469"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_168100", "label_std": ["Paralysis Agitans, Juvenile, of Hunt"], "equivalent_curie": ["UMLS:C0238344", "MESH:C562469"], "equivalent_curie_kw": ["UMLS:C0238344", "MESH:C562469"], "synonym_eng": ["Parkinson Disease, Juvenile, of Hunt", "PARALYSIS AGITANS, JUVENILE, OF HUNT", "Parkinson Disease, Juvenile, Of Hunt"], "score": 27.588133, "id_kw": "OMIM:168100", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C0238344", "http://purl.obolibrary.org/obo/MESH_C562469"], "label_kw": ["Paralysis Agitans, Juvenile, of Hunt"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_168100", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C0238344", "http://purl.obolibrary.org/obo/MESH_C562469"], "_version_": 1580845550577647617, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_168100", "id": "OMIM:168100", "synonym_kw": ["Parkinson Disease, Juvenile, of Hunt", "PARALYSIS AGITANS, JUVENILE, OF HUNT", "Parkinson Disease, Juvenile, Of Hunt"], "synonym_std": ["Parkinson Disease, Juvenile, of Hunt", "PARALYSIS AGITANS, JUVENILE, OF HUNT", "Parkinson Disease, Juvenile, Of Hunt"], "label": ["Paralysis Agitans, Juvenile, of Hunt"], "category": ["disease"]}, {"synonym": ["protein DJ-1", "protein deglycase DJ-1", "Parkinsonism associated deglycase", "Parkinson disease (autosomal recessive, early onset) 7"], "equivalent_curie_eng": ["ENSEMBL:ENSCAFG00000019674"], "taxon_kw": "NCBITaxon:9615", "leaf": true, "category_std": ["gene"], "id_std": "NCBIGene:479595", "iri": "http://www.ncbi.nlm.nih.gov/gene/479595", "taxon_label_synonym_eng": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "taxon_label_synonym_kw": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSCAFG00000019674"], "label_eng": ["PARK7"], "equivalent_curie_std": ["ENSEMBL:ENSCAFG00000019674"], "id_eng": "NCBIGene:479595", "taxon_label_synonym_std": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "taxon_std": "NCBITaxon:9615", "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSCAFG00000019674"], "category_kw": ["gene"], "taxon_label_synonym": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "equivalent_curie_kw": ["ENSEMBL:ENSCAFG00000019674"], "taxon_label_std": "Canis lupus familiaris", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/479595", "label_std": ["PARK7"], "taxon_label_kw": "Canis lupus familiaris", "synonym_eng": ["protein DJ-1", "protein deglycase DJ-1", "Parkinsonism associated deglycase", "Parkinson disease (autosomal recessive, early onset) 7"], "equivalent_curie": ["ENSEMBL:ENSCAFG00000019674"], "taxon_label_eng": "Canis lupus familiaris", "taxon": "NCBITaxon:9615", "taxon_label": "Canis lupus familiaris", "id_kw": "NCBIGene:479595", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSCAFG00000019674"], "label_kw": ["PARK7"], "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/479595", "equivalent_iri": ["http://identifiers.org/ensembl/ENSCAFG00000019674"], "taxon_eng": "NCBITaxon:9615", "_version_": 1580845716803158017, "category_eng": ["gene"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/479595", "id": "NCBIGene:479595", "synonym_kw": ["protein DJ-1", "protein deglycase DJ-1", "Parkinsonism associated deglycase", "Parkinson disease (autosomal recessive, early onset) 7"], "synonym_std": ["protein DJ-1", "protein deglycase DJ-1", "Parkinsonism associated deglycase", "Parkinson disease (autosomal recessive, early onset) 7"], "label": ["PARK7"], "score": 27.588133, "category": ["gene"]}, {"synonym": ["PDDC1", "LOW QUALITY PROTEIN: Parkinson disease 7 domain-containing protein 1", "Parkinson disease 7 domain containing 1"], "taxon_kw": "NCBITaxon:9796", "leaf": true, "category_std": ["gene"], "id_std": "NCBIGene:100147623", "iri": "http://www.ncbi.nlm.nih.gov/gene/100147623", "taxon_label_synonym_eng": ["horse", "domestic horse", "Equus przewalskii f. caballus", "Equus ferus caballus", "equine", "Equus przewalskii forma caballus"], "taxon_label_synonym_kw": ["horse", "domestic horse", "Equus przewalskii f. caballus", "Equus ferus caballus", "equine", "Equus przewalskii forma caballus"], "label_eng": ["GATD1"], "id_eng": "NCBIGene:100147623", "taxon_label_synonym_std": ["horse", "domestic horse", "Equus przewalskii f. caballus", "Equus ferus caballus", "equine", "Equus przewalskii forma caballus"], "taxon_std": "NCBITaxon:9796", "category_kw": ["gene"], "taxon_label_synonym": ["horse", "domestic horse", "Equus przewalskii f. caballus", "Equus ferus caballus", "equine", "Equus przewalskii forma caballus"], "taxon_label_std": "Equus caballus", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/100147623", "label_std": ["GATD1"], "taxon_label_kw": "Equus caballus", "synonym_eng": ["PDDC1", "LOW QUALITY PROTEIN: Parkinson disease 7 domain-containing protein 1", "Parkinson disease 7 domain containing 1"], "taxon_label_eng": "Equus caballus", "taxon": "NCBITaxon:9796", "taxon_label": "Equus caballus", "id_kw": "NCBIGene:100147623", "label_kw": ["GATD1"], "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/100147623", "taxon_eng": "NCBITaxon:9796", "_version_": 1580845656855019522, "category_eng": ["gene"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/100147623", "id": "NCBIGene:100147623", "synonym_kw": ["PDDC1", "LOW QUALITY PROTEIN: Parkinson disease 7 domain-containing protein 1", "Parkinson disease 7 domain containing 1"], "synonym_std": ["PDDC1", "LOW QUALITY PROTEIN: Parkinson disease 7 domain-containing protein 1", "Parkinson disease 7 domain containing 1"], "label": ["GATD1"], "score": 27.588133, "category": ["gene"]}, {"synonym": ["LOC100610217", "Parkinson disease 7 domain-containing protein 1", "PDDC1", "Parkinson disease 7 domain containing 1"], "taxon_kw": "NCBITaxon:9598", "leaf": true, "category_std": ["gene"], "id_std": "NCBIGene:740015", "iri": "http://www.ncbi.nlm.nih.gov/gene/740015", "taxon_label_synonym_eng": ["Chimpansee troglodytes", "chimpanzee"], "taxon_label_synonym_kw": ["Chimpansee troglodytes", "chimpanzee"], "label_eng": ["GATD1"], "id_eng": "NCBIGene:740015", "taxon_label_synonym_std": ["Chimpansee troglodytes", "chimpanzee"], "taxon_std": "NCBITaxon:9598", "category_kw": ["gene"], "taxon_label_synonym": ["Chimpansee troglodytes", "chimpanzee"], "taxon_label_std": "Pan troglodytes", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/740015", "label_std": ["GATD1"], "taxon_label_kw": "Pan troglodytes", "synonym_eng": ["LOC100610217", "Parkinson disease 7 domain-containing protein 1", "PDDC1", "Parkinson disease 7 domain containing 1"], "taxon_label_eng": "Pan troglodytes", "taxon": "NCBITaxon:9598", "taxon_label": "Pan troglodytes", "id_kw": "NCBIGene:740015", "label_kw": ["GATD1"], "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/740015", "taxon_eng": "NCBITaxon:9598", "_version_": 1580845806720647169, "category_eng": ["gene"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/740015", "id": "NCBIGene:740015", "synonym_kw": ["LOC100610217", "Parkinson disease 7 domain-containing protein 1", "PDDC1", "Parkinson disease 7 domain containing 1"], "synonym_std": ["LOC100610217", "Parkinson disease 7 domain-containing protein 1", "PDDC1", "Parkinson disease 7 domain containing 1"], "label": ["GATD1"], "score": 27.588133, "category": ["gene"]}, {"synonym": ["parkinson-overview"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK1223", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK1223", "label_eng": ["Parkinson Disease Overview"], "definition_std": ["Parkinsonism refers to all clinical states characterized by tremor, muscle rigidity, slowed movement (bradykinesia) and often postural instability. Parkinson disease is the primary and most common form of parkinsonism. Psychiatric manifestations, which include depression and visual hallucinations, are common but not uniformly present. Dementia eventually occurs in at least 20% of cases. The most common sporadic form of Parkinson disease manifests around age 60; however, young-onset and even juvenile presentations are seen. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1223]"], "id_eng": "GeneReviews:NBK1223", "definition_kw": ["Parkinsonism refers to all clinical states characterized by tremor, muscle rigidity, slowed movement (bradykinesia) and often postural instability. Parkinson disease is the primary and most common form of parkinsonism. Psychiatric manifestations, which include depression and visual hallucinations, are common but not uniformly present. Dementia eventually occurs in at least 20% of cases. The most common sporadic form of Parkinson disease manifests around age 60; however, young-onset and even juvenile presentations are seen. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1223]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK1223", "label_std": ["Parkinson Disease Overview"], "synonym_eng": ["parkinson-overview"], "score": 27.394457, "id_kw": "GeneReviews:NBK1223", "label_kw": ["Parkinson Disease Overview"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK1223", "_version_": 1580845511241367552, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK1223", "id": "GeneReviews:NBK1223", "definition": ["Parkinsonism refers to all clinical states characterized by tremor, muscle rigidity, slowed movement (bradykinesia) and often postural instability. Parkinson disease is the primary and most common form of parkinsonism. Psychiatric manifestations, which include depression and visual hallucinations, are common but not uniformly present. Dementia eventually occurs in at least 20% of cases. The most common sporadic form of Parkinson disease manifests around age 60; however, young-onset and even juvenile presentations are seen. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1223]"], "synonym_kw": ["parkinson-overview"], "synonym_std": ["parkinson-overview"], "label": ["Parkinson Disease Overview"], "definition_eng": ["Parkinsonism refers to all clinical states characterized by tremor, muscle rigidity, slowed movement (bradykinesia) and often postural instability. Parkinson disease is the primary and most common form of parkinsonism. Psychiatric manifestations, which include depression and visual hallucinations, are common but not uniformly present. Dementia eventually occurs in at least 20% of cases. The most common sporadic form of Parkinson disease manifests around age 60; however, young-onset and even juvenile presentations are seen. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1223]"], "category": ["disease"]}, {"synonym": ["CO-induced parkinsonism"], "equivalent_curie_eng": ["UMLS:C0393565"], "leaf": true, "category_std": ["disease"], "id_std": "Orphanet:306686", "iri": "http://www.orpha.net/ORDO/Orphanet_306686", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C0393565"], "label_eng": ["Carbon monoxide-induced parkinsonism"], "equivalent_curie_std": ["UMLS:C0393565"], "id_eng": "Orphanet:306686", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C0393565"], "category_kw": ["disease"], "iri_eng": "http://www.orpha.net/ORDO/Orphanet_306686", "label_std": ["Carbon monoxide-induced parkinsonism"], "equivalent_curie": ["UMLS:C0393565"], "equivalent_curie_kw": ["UMLS:C0393565"], "synonym_eng": ["CO-induced parkinsonism"], "score": 27.394457, "id_kw": "Orphanet:306686", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C0393565"], "label_kw": ["Carbon monoxide-induced parkinsonism"], "iri_kw": "http://www.orpha.net/ORDO/Orphanet_306686", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C0393565"], "_version_": 1580845617062608898, "category_eng": ["disease"], "iri_std": "http://www.orpha.net/ORDO/Orphanet_306686", "id": "Orphanet:306686", "synonym_kw": ["CO-induced parkinsonism"], "synonym_std": ["CO-induced parkinsonism"], "label": ["Carbon monoxide-induced parkinsonism"], "category": ["disease"]}, {"synonym": ["KUFOR-RAKEB SYNDROME; KRS", "Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis and Dementia", "autosomal recessive Parkinson disease 9", "Parkinson disease 9", "Parkinson Disease 9, Autosomal Recessive, Juvenile-Onset", "Ceroid Lipofuscinosis, Neuronal, 12", "autosomal recessive juvenile onset Parkinson disease 9", "Parkinson Disease 9, Autosomal Recessive", "Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis and Dementia", "PARK9", "KRS"], "equivalent_curie_eng": ["Orphanet:306674", "UMLS:CN180193", "UMLS:C3715048", "UMLS:C1847640", "DOID:0060556", "MESH:C537177"], "leaf": false, "category_std": ["disease"], "id_std": "OMIM:606693", "iri": "http://purl.obolibrary.org/obo/OMIM_606693", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_306674", "http://purl.obolibrary.org/obo/UMLS_CN180193", "http://purl.obolibrary.org/obo/UMLS_C3715048", "http://purl.obolibrary.org/obo/UMLS_C1847640", "http://purl.obolibrary.org/obo/DOID_0060556", "http://purl.obolibrary.org/obo/MESH_C537177"], "label_eng": ["Parkinson disease 9", "Kufor-Rakeb syndrome", "Kufor-Rakeb Syndrome"], "definition_std": ["Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.", "Kufor-Rakeb syndrome is a rare autosomal recessive form of juvenile-onset atypical Parkinson disease (PARK9) associated with supranuclear gaze palsy, spasticity, and dementia. Some patients have neuroradiologic evidence of iron deposition in the basal ganglia, indicating that the pathogenesis of PARK9 can be considered among the syndromes of neurodegeneration with brain iron accumulation (NBIA; see OMIM:234200) (summary by {2:Bruggemann et al., 2010}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see OMIM:168600.\n\nBiallelic mutation in the ATP13A2 gene also causes autosomal recessive spastic paraplegia-78 (SPG78; OMIM:617225), an adult-onset neurodegenerative disorder with overlapping features. Patients with SPG78 have later onset and prominent spasticity, but rarely parkinsonism. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting various regions of the brain and nervous system, including cortical, pyramidal, extrapyramidal, brainstem, cerebellar, and peripheral (summary by {7:Estrada-Cuzcano et al., 2017})."], "id_eng": "OMIM:606693", "definition_kw": ["Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.", "Kufor-Rakeb syndrome is a rare autosomal recessive form of juvenile-onset atypical Parkinson disease (PARK9) associated with supranuclear gaze palsy, spasticity, and dementia. Some patients have neuroradiologic evidence of iron deposition in the basal ganglia, indicating that the pathogenesis of PARK9 can be considered among the syndromes of neurodegeneration with brain iron accumulation (NBIA; see OMIM:234200) (summary by {2:Bruggemann et al., 2010}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see OMIM:168600.\n\nBiallelic mutation in the ATP13A2 gene also causes autosomal recessive spastic paraplegia-78 (SPG78; OMIM:617225), an adult-onset neurodegenerative disorder with overlapping features. Patients with SPG78 have later onset and prominent spasticity, but rarely parkinsonism. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting various regions of the brain and nervous system, including cortical, pyramidal, extrapyramidal, brainstem, cerebellar, and peripheral (summary by {7:Estrada-Cuzcano et al., 2017})."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_306674", "http://purl.obolibrary.org/obo/UMLS_CN180193", "http://purl.obolibrary.org/obo/UMLS_C3715048", "http://purl.obolibrary.org/obo/UMLS_C1847640", "http://purl.obolibrary.org/obo/DOID_0060556", "http://purl.obolibrary.org/obo/MESH_C537177"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_606693", "label_std": ["Parkinson disease 9", "Kufor-Rakeb syndrome", "Kufor-Rakeb Syndrome"], "equivalent_curie": ["Orphanet:306674", "UMLS:CN180193", "UMLS:C3715048", "UMLS:C1847640", "DOID:0060556", "MESH:C537177"], "equivalent_curie_kw": ["Orphanet:306674", "UMLS:CN180193", "UMLS:C3715048", "UMLS:C1847640", "DOID:0060556", "MESH:C537177"], "synonym_eng": ["KUFOR-RAKEB SYNDROME; KRS", "Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis and Dementia", "autosomal recessive Parkinson disease 9", "Parkinson disease 9", "Parkinson Disease 9, Autosomal Recessive, Juvenile-Onset", "Ceroid Lipofuscinosis, Neuronal, 12", "autosomal recessive juvenile onset Parkinson disease 9", "Parkinson Disease 9, Autosomal Recessive", "Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis and Dementia", "PARK9", "KRS"], "score": 26.915663, "id_kw": "OMIM:606693", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_306674", "http://purl.obolibrary.org/obo/UMLS_CN180193", "http://purl.obolibrary.org/obo/UMLS_C3715048", "http://purl.obolibrary.org/obo/UMLS_C1847640", "http://purl.obolibrary.org/obo/DOID_0060556", "http://purl.obolibrary.org/obo/MESH_C537177"], "label_kw": ["Parkinson disease 9", "Kufor-Rakeb syndrome", "Kufor-Rakeb Syndrome"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_606693", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_306674", "http://purl.obolibrary.org/obo/UMLS_CN180193", "http://purl.obolibrary.org/obo/UMLS_C3715048", "http://purl.obolibrary.org/obo/UMLS_C1847640", "http://purl.obolibrary.org/obo/DOID_0060556", "http://purl.obolibrary.org/obo/MESH_C537177"], "_version_": 1580845543772389377, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_606693", "id": "OMIM:606693", "definition": ["Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.", "Kufor-Rakeb syndrome is a rare autosomal recessive form of juvenile-onset atypical Parkinson disease (PARK9) associated with supranuclear gaze palsy, spasticity, and dementia. Some patients have neuroradiologic evidence of iron deposition in the basal ganglia, indicating that the pathogenesis of PARK9 can be considered among the syndromes of neurodegeneration with brain iron accumulation (NBIA; see OMIM:234200) (summary by {2:Bruggemann et al., 2010}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see OMIM:168600.\n\nBiallelic mutation in the ATP13A2 gene also causes autosomal recessive spastic paraplegia-78 (SPG78; OMIM:617225), an adult-onset neurodegenerative disorder with overlapping features. Patients with SPG78 have later onset and prominent spasticity, but rarely parkinsonism. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting various regions of the brain and nervous system, including cortical, pyramidal, extrapyramidal, brainstem, cerebellar, and peripheral (summary by {7:Estrada-Cuzcano et al., 2017})."], "synonym_kw": ["KUFOR-RAKEB SYNDROME; KRS", "Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis and Dementia", "autosomal recessive Parkinson disease 9", "Parkinson disease 9", "Parkinson Disease 9, Autosomal Recessive, Juvenile-Onset", "Ceroid Lipofuscinosis, Neuronal, 12", "autosomal recessive juvenile onset Parkinson disease 9", "Parkinson Disease 9, Autosomal Recessive", "Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis and Dementia", "PARK9", "KRS"], "synonym_std": ["KUFOR-RAKEB SYNDROME; KRS", "Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis and Dementia", "autosomal recessive Parkinson disease 9", "Parkinson disease 9", "Parkinson Disease 9, Autosomal Recessive, Juvenile-Onset", "Ceroid Lipofuscinosis, Neuronal, 12", "autosomal recessive juvenile onset Parkinson disease 9", "Parkinson Disease 9, Autosomal Recessive", "Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis and Dementia", "PARK9", "KRS"], "label": ["Parkinson disease 9", "Kufor-Rakeb syndrome", "Kufor-Rakeb Syndrome"], "definition_eng": ["Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.", "Kufor-Rakeb syndrome is a rare autosomal recessive form of juvenile-onset atypical Parkinson disease (PARK9) associated with supranuclear gaze palsy, spasticity, and dementia. Some patients have neuroradiologic evidence of iron deposition in the basal ganglia, indicating that the pathogenesis of PARK9 can be considered among the syndromes of neurodegeneration with brain iron accumulation (NBIA; see OMIM:234200) (summary by {2:Bruggemann et al., 2010}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see OMIM:168600.\n\nBiallelic mutation in the ATP13A2 gene also causes autosomal recessive spastic paraplegia-78 (SPG78; OMIM:617225), an adult-onset neurodegenerative disorder with overlapping features. Patients with SPG78 have later onset and prominent spasticity, but rarely parkinsonism. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting various regions of the brain and nervous system, including cortical, pyramidal, extrapyramidal, brainstem, cerebellar, and peripheral (summary by {7:Estrada-Cuzcano et al., 2017})."], "equivalent_curie_std": ["Orphanet:306674", "UMLS:CN180193", "UMLS:C3715048", "UMLS:C1847640", "DOID:0060556", "MESH:C537177"], "category": ["disease"]}, {"synonym": ["Als-Pdc", "Guam disease", "Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome", "PDALS", "Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex of Guam", "Lytico-Bodig disease", "Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex type 1", "Guam Disease", "AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1", "Parkinsonism-dementia-ALS complex"], "equivalent_curie_eng": ["Orphanet:90020", "UMLS:C0543859"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:105500", "iri": "http://purl.obolibrary.org/obo/OMIM_105500", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_90020", "http://purl.obolibrary.org/obo/UMLS_C0543859"], "label_eng": ["Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1", "Amyotrophic lateral sclerosis-parkinsonism-dementia complex"], "definition_std": ["Amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam is a neurodengenerative disorder with unusually high incidence among the Chamorro people of Guam. Both ALS and parkinsonism-dementia are chronic, progressive, and uniformly fatal disorders in this population. Both diseases are known to occur in the same kindred, the same sibship, and even the same individual.", "See http://www.omim.org/entry/105500"], "id_eng": "OMIM:105500", "definition_kw": ["Amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam is a neurodengenerative disorder with unusually high incidence among the Chamorro people of Guam. Both ALS and parkinsonism-dementia are chronic, progressive, and uniformly fatal disorders in this population. Both diseases are known to occur in the same kindred, the same sibship, and even the same individual.", "See http://www.omim.org/entry/105500"], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_90020", "http://purl.obolibrary.org/obo/UMLS_C0543859"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_105500", "label_std": ["Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1", "Amyotrophic lateral sclerosis-parkinsonism-dementia complex"], "equivalent_curie": ["Orphanet:90020", "UMLS:C0543859"], "equivalent_curie_kw": ["Orphanet:90020", "UMLS:C0543859"], "synonym_eng": ["Als-Pdc", "Guam disease", "Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome", "PDALS", "Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex of Guam", "Lytico-Bodig disease", "Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex type 1", "Guam Disease", "AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1", "Parkinsonism-dementia-ALS complex"], "score": 26.915663, "id_kw": "OMIM:105500", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_90020", "http://purl.obolibrary.org/obo/UMLS_C0543859"], "label_kw": ["Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1", "Amyotrophic lateral sclerosis-parkinsonism-dementia complex"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_105500", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_90020", "http://purl.obolibrary.org/obo/UMLS_C0543859"], "_version_": 1580845543779729409, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_105500", "id": "OMIM:105500", "definition": ["Amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam is a neurodengenerative disorder with unusually high incidence among the Chamorro people of Guam. Both ALS and parkinsonism-dementia are chronic, progressive, and uniformly fatal disorders in this population. Both diseases are known to occur in the same kindred, the same sibship, and even the same individual.", "See http://www.omim.org/entry/105500"], "synonym_kw": ["Als-Pdc", "Guam disease", "Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome", "PDALS", "Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex of Guam", "Lytico-Bodig disease", "Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex type 1", "Guam Disease", "AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1", "Parkinsonism-dementia-ALS complex"], "synonym_std": ["Als-Pdc", "Guam disease", "Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome", "PDALS", "Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex of Guam", "Lytico-Bodig disease", "Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex type 1", "Guam Disease", "AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1", "Parkinsonism-dementia-ALS complex"], "label": ["Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1", "Amyotrophic lateral sclerosis-parkinsonism-dementia complex"], "definition_eng": ["Amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam is a neurodengenerative disorder with unusually high incidence among the Chamorro people of Guam. Both ALS and parkinsonism-dementia are chronic, progressive, and uniformly fatal disorders in this population. Both diseases are known to occur in the same kindred, the same sibship, and even the same individual.", "See http://www.omim.org/entry/105500"], "equivalent_curie_std": ["Orphanet:90020", "UMLS:C0543859"], "category": ["disease"]}, {"synonym": ["MSA, parkinsonian type", "MSA-p"], "equivalent_curie_eng": ["UMLS:CN207200"], "leaf": true, "category_std": ["disease"], "id_std": "Orphanet:98933", "iri": "http://www.orpha.net/ORDO/Orphanet_98933", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_CN207200"], "label_eng": ["Multiple system atrophy, parkinsonian type"], "definition_std": ["Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA; see this term) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability)."], "id_eng": "Orphanet:98933", "definition_kw": ["Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA; see this term) with 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multiple system atrophy (MSA; see this term) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability)."], "synonym_kw": ["MSA, parkinsonian type", "MSA-p"], "synonym_std": ["MSA, parkinsonian type", "MSA-p"], "label": ["Multiple system atrophy, parkinsonian type"], "definition_eng": ["Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA; see this term) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability)."], "equivalent_curie_std": ["UMLS:CN207200"], "category": ["disease"]}, {"synonym": ["Parkinson Disease 14, Autosomal Recessive"], "leaf": true, "category_std": ["disease"], "id_std": "MESH:C567844", "iri": "http://purl.obolibrary.org/obo/MESH_C567844", "label_eng": ["Dystonia-Parkinsonism, Adult-Onset"], "id_eng": "MESH:C567844", "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/MESH_C567844", "label_std": ["Dystonia-Parkinsonism, Adult-Onset"], "synonym_eng": ["Parkinson Disease 14, Autosomal Recessive"], "score": 26.668867, "id_kw": "MESH:C567844", "label_kw": ["Dystonia-Parkinsonism, Adult-Onset"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_C567844", "_version_": 1580845612347162628, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/MESH_C567844", "id": "MESH:C567844", "synonym_kw": ["Parkinson Disease 14, Autosomal Recessive"], "synonym_std": ["Parkinson Disease 14, Autosomal Recessive"], "label": ["Dystonia-Parkinsonism, Adult-Onset"], "category": ["disease"]}, {"synonym": ["protein deglycase DJ-1", "parkinson protein 7"], "taxon_kw": "NCBITaxon:9258", "leaf": true, "category_std": ["gene"], "id_std": "NCBIGene:100073498", "iri": "http://www.ncbi.nlm.nih.gov/gene/100073498", "taxon_label_synonym_eng": ["platypus", "Ornythorhynchus anatinus", "duckbill platypus", "duck-billed platypus"], "taxon_label_synonym_kw": ["platypus", "Ornythorhynchus anatinus", "duckbill platypus", "duck-billed platypus"], "label_eng": ["PARK7"], "id_eng": "NCBIGene:100073498", "taxon_label_synonym_std": ["platypus", "Ornythorhynchus anatinus", "duckbill platypus", "duck-billed platypus"], "taxon_std": "NCBITaxon:9258", "category_kw": ["gene"], "taxon_label_synonym": ["platypus", "Ornythorhynchus anatinus", "duckbill platypus", "duck-billed platypus"], "taxon_label_std": "Ornithorhynchus anatinus", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/100073498", "label_std": ["PARK7"], "taxon_label_kw": "Ornithorhynchus anatinus", "synonym_eng": ["protein deglycase DJ-1", "parkinson protein 7"], "taxon_label_eng": "Ornithorhynchus anatinus", "taxon": "NCBITaxon:9258", "taxon_label": "Ornithorhynchus anatinus", "id_kw": "NCBIGene:100073498", "label_kw": ["PARK7"], "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/100073498", "taxon_eng": "NCBITaxon:9258", "_version_": 1580845769955475457, "category_eng": ["gene"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/100073498", "id": "NCBIGene:100073498", "synonym_kw": ["protein deglycase DJ-1", "parkinson protein 7"], "synonym_std": ["protein deglycase DJ-1", "parkinson protein 7"], "label": ["PARK7"], "score": 26.668867, "category": ["gene"]}, {"synonym": ["protein deglycase DJ-1", "parkinson protein 7"], "equivalent_curie_eng": ["ENSEMBL:ENSMODG00000009595"], "taxon_kw": "NCBITaxon:13616", "leaf": true, "category_std": ["gene"], "id_std": "NCBIGene:100010357", "iri": "http://www.ncbi.nlm.nih.gov/gene/100010357", "taxon_label_synonym_eng": ["gray short-tailed opossum", "Monodelphis domesticus"], "taxon_label_synonym_kw": ["gray short-tailed opossum", "Monodelphis domesticus"], "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSMODG00000009595"], "label_eng": ["PARK7"], "equivalent_curie_std": ["ENSEMBL:ENSMODG00000009595"], "id_eng": "NCBIGene:100010357", "taxon_label_synonym_std": ["gray short-tailed opossum", "Monodelphis 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1580845645765279744, "category_eng": ["gene"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/100010357", "id": "NCBIGene:100010357", "synonym_kw": ["protein deglycase DJ-1", "parkinson protein 7"], "synonym_std": ["protein deglycase DJ-1", "parkinson protein 7"], "label": ["PARK7"], "score": 26.668867, "category": ["gene"]}, {"synonym": ["protein deglycase DJ-1", "parkinson protein 7"], "equivalent_curie_eng": ["ENSEMBL:ENSACAG00000017386"], "taxon_kw": "NCBITaxon:28377", "leaf": true, "category_std": ["gene"], "id_std": "NCBIGene:100551640", "iri": "http://www.ncbi.nlm.nih.gov/gene/100551640", "taxon_label_synonym_eng": ["Carolina anole", "green anole"], "taxon_label_synonym_kw": ["Carolina anole", "green anole"], "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSACAG00000017386"], "label_eng": ["park7"], "equivalent_curie_std": ["ENSEMBL:ENSACAG00000017386"], "id_eng": "NCBIGene:100551640", "taxon_label_synonym_std": ["Carolina anole", "green anole"], "taxon_std": "NCBITaxon:28377", "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSACAG00000017386"], "category_kw": ["gene"], "taxon_label_synonym": ["Carolina anole", "green anole"], "equivalent_curie_kw": ["ENSEMBL:ENSACAG00000017386"], "taxon_label_std": "Anolis carolinensis", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/100551640", "label_std": ["park7"], "taxon_label_kw": "Anolis carolinensis", "synonym_eng": ["protein deglycase DJ-1", "parkinson protein 7"], "equivalent_curie": ["ENSEMBL:ENSACAG00000017386"], "taxon_label_eng": "Anolis carolinensis", "taxon": "NCBITaxon:28377", "taxon_label": "Anolis carolinensis", "id_kw": "NCBIGene:100551640", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSACAG00000017386"], "label_kw": ["park7"], "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/100551640", "equivalent_iri": ["http://identifiers.org/ensembl/ENSACAG00000017386"], "taxon_eng": "NCBITaxon:28377", "_version_": 1580845649789714432, "category_eng": ["gene"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/100551640", "id": "NCBIGene:100551640", "synonym_kw": ["protein deglycase DJ-1", "parkinson protein 7"], "synonym_std": ["protein deglycase DJ-1", "parkinson protein 7"], "label": ["park7"], "score": 26.668867, "category": ["gene"]}, {"synonym": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "PARK2", "E3 ubiquitin-protein ligase parkin"], "taxon_kw": "NCBITaxon:9615", "leaf": true, "category_std": ["gene"], "id_std": "NCBIGene:612316", "iri": "http://www.ncbi.nlm.nih.gov/gene/612316", "taxon_label_synonym_eng": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "taxon_label_synonym_kw": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "label_eng": ["PRKN"], "id_eng": "NCBIGene:612316", "taxon_label_synonym_std": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "taxon_std": "NCBITaxon:9615", "category_kw": ["gene"], "taxon_label_synonym": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "taxon_label_std": "Canis lupus familiaris", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/612316", "label_std": ["PRKN"], "taxon_label_kw": "Canis lupus familiaris", "synonym_eng": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "PARK2", "E3 ubiquitin-protein ligase parkin"], "taxon_label_eng": "Canis lupus familiaris", "taxon": "NCBITaxon:9615", "taxon_label": "Canis lupus familiaris", "id_kw": "NCBIGene:612316", "label_kw": ["PRKN"], "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/612316", "taxon_eng": "NCBITaxon:9615", "_version_": 1580845635315171328, "category_eng": ["gene"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/612316", "id": "NCBIGene:612316", "synonym_kw": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "PARK2", "E3 ubiquitin-protein ligase parkin"], "synonym_std": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "PARK2", "E3 ubiquitin-protein ligase parkin"], "label": ["PRKN"], "score": 26.359816, "category": ["gene"]}, {"synonym": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "pdr-1", "PARK2", "E3 ubiquitin-protein ligase parkin"], "equivalent_curie_eng": ["ENSEMBL:ENSSSCG00000004032"], "taxon_kw": "NCBITaxon:9823", "leaf": true, "category_std": ["gene"], "id_std": "NCBIGene:733673", "iri": "http://www.ncbi.nlm.nih.gov/gene/733673", "taxon_label_synonym_eng": ["swine", "pigs", "wild boar", "Sus scrofus", "pig"], "taxon_label_synonym_kw": ["swine", "pigs", "wild boar", "Sus scrofus", "pig"], "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSSSCG00000004032"], "label_eng": ["PRKN"], "equivalent_curie_std": ["ENSEMBL:ENSSSCG00000004032"], "id_eng": "NCBIGene:733673", "taxon_label_synonym_std": ["swine", "pigs", "wild boar", "Sus scrofus", "pig"], "taxon_std": "NCBITaxon:9823", "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSSSCG00000004032"], "category_kw": ["gene"], "taxon_label_synonym": ["swine", "pigs", "wild boar", "Sus scrofus", "pig"], "equivalent_curie_kw": ["ENSEMBL:ENSSSCG00000004032"], "taxon_label_std": "Sus scrofa", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/733673", "label_std": ["PRKN"], "taxon_label_kw": "Sus scrofa", "synonym_eng": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "pdr-1", "PARK2", "E3 ubiquitin-protein ligase parkin"], "equivalent_curie": ["ENSEMBL:ENSSSCG00000004032"], "taxon_label_eng": "Sus scrofa", "taxon": "NCBITaxon:9823", "taxon_label": "Sus scrofa", "id_kw": "NCBIGene:733673", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSSSCG00000004032"], "label_kw": ["PRKN"], "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/733673", "equivalent_iri": ["http://identifiers.org/ensembl/ENSSSCG00000004032"], "taxon_eng": "NCBITaxon:9823", "_version_": 1580845734639435778, "category_eng": ["gene"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/733673", "id": "NCBIGene:733673", "synonym_kw": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "pdr-1", "PARK2", "E3 ubiquitin-protein ligase parkin"], "synonym_std": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "pdr-1", "PARK2", "E3 ubiquitin-protein ligase parkin"], "label": ["PRKN"], "score": 26.359816, "category": ["gene"]}, {"synonym": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "PARK2", "E3 ubiquitin-protein ligase parkin"], "equivalent_curie_eng": ["ENSEMBL:ENSBTAG00000018996"], "taxon_kw": 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deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7", "protein/nucleic acid deglycase DJ-1", "parkinson disease protein 7 homolog", "DJ-1", "DJ1", "maillard deglycase"], "equivalent_curie": ["ENSEMBL:ENSBTAG00000020518"], "taxon_label_eng": "Bos taurus", "taxon": "NCBITaxon:9913", "taxon_label": "Bos taurus", "id_kw": "NCBIGene:511268", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSBTAG00000020518"], "label_kw": ["PARK7"], "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/511268", "equivalent_iri": ["http://identifiers.org/ensembl/ENSBTAG00000020518"], "taxon_eng": "NCBITaxon:9913", "_version_": 1580845696727121920, "category_eng": ["gene"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/511268", "id": "NCBIGene:511268", "synonym_kw": ["protein DJ-1", "protein deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7", "protein/nucleic acid deglycase DJ-1", "parkinson disease protein 7 homolog", "DJ-1", "DJ1", "maillard deglycase"], "synonym_std": ["protein DJ-1", "protein deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7", "protein/nucleic acid deglycase DJ-1", "parkinson disease protein 7 homolog", "DJ-1", "DJ1", "maillard deglycase"], "label": ["PARK7"], "score": 26.359816, "category": ["gene"]}, {"synonym": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "PARK2", "E3 ubiquitin-protein ligase parkin"], "taxon_kw": "NCBITaxon:9796", "leaf": true, "category_std": ["gene"], "id_std": "NCBIGene:100057832", "iri": "http://www.ncbi.nlm.nih.gov/gene/100057832", "taxon_label_synonym_eng": ["horse", "domestic horse", "Equus przewalskii f. caballus", "Equus ferus caballus", "equine", "Equus przewalskii forma caballus"], "taxon_label_synonym_kw": ["horse", "domestic horse", "Equus przewalskii f. caballus", "Equus ferus caballus", "equine", "Equus przewalskii forma caballus"], "label_eng": ["PRKN"], "id_eng": "NCBIGene:100057832", "taxon_label_synonym_std": ["horse", "domestic horse", "Equus przewalskii f. caballus", "Equus ferus caballus", "equine", "Equus przewalskii forma caballus"], "taxon_std": "NCBITaxon:9796", "category_kw": ["gene"], "taxon_label_synonym": ["horse", "domestic horse", "Equus przewalskii f. caballus", "Equus ferus caballus", "equine", "Equus przewalskii forma caballus"], "taxon_label_std": "Equus caballus", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/100057832", "label_std": ["PRKN"], "taxon_label_kw": "Equus caballus", "synonym_eng": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "PARK2", "E3 ubiquitin-protein ligase parkin"], "taxon_label_eng": "Equus caballus", "taxon": "NCBITaxon:9796", "taxon_label": "Equus caballus", "id_kw": "NCBIGene:100057832", "label_kw": ["PRKN"], "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/100057832", "taxon_eng": "NCBITaxon:9796", "_version_": 1580845802203381762, "category_eng": ["gene"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/100057832", "id": "NCBIGene:100057832", "synonym_kw": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "PARK2", "E3 ubiquitin-protein ligase parkin"], "synonym_std": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "PARK2", "E3 ubiquitin-protein ligase parkin"], "label": ["PRKN"], "score": 26.359816, "category": ["gene"]}, {"synonym": ["PD", "PARKINSON DISEASE, LATE-ONSET; PD", "Park"], "equivalent_curie_eng": ["UMLS:C3160718"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:168600", "iri": "http://purl.obolibrary.org/obo/OMIM_168600", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3160718"], "label_eng": ["Parkinson Disease, Late-Onset", "Parkinson disease, late-onset"], "definition_std": ["Parkinson disease was first described by James Parkinson in 1817. It is the second most common neurodegenerative disorder after Alzheimer disease (AD; OMIM:104300), affecting approximately 1% of the population over age 50 ({92:Polymeropoulos et al., 1996}).\n\n<Subhead> Reviews\n\n{130:Warner and Schapira (2003)} reviewed the genetic and environmental causes of Parkinson disease. {30:Feany (2004)} reviewed the genetics of Parkinson disease and provided a speculative model of interactions among proteins implicated in PD. {59:Lees et al. (2009)} provided a review of Parkinson disease, with emphasis on diagnosis, neuropathology, and treatment.\n\n<Subhead> Genetic Heterogeneity of Parkinson Disease\n\nSeveral loci for autosomal dominant Parkinson disease have been identified, including PARK1 (OMIM:168601) and PARK4, caused by mutation in or triplication of the alpha-synuclein gene (SNCA; OMIM:163890), respectively, on 4q22; PARK5 (OMIM:191342), caused by mutation in the UCHL1 gene on 4p13; PARK8 (OMIM:607060), caused by mutation in the LRRK2 gene (OMIM:609007) on 12q12; PARK11 (OMIM:607688), caused by mutation in the GIGYF2 gene (OMIM:612003) on 2q37; PARK13 (OMIM:610297), caused by mutation in the HTRA2 gene (OMIM:606441) on 2p13; PARK17 (OMIM:614203), caused by mutation in the VPS35 gene (OMIM:601501) on 16q11; and PARK18 (OMIM:614251), caused by mutation in the EIF4G1 gene (OMIM:600495) on 3q27.\n\nSeveral loci for autosomal recessive early-onset Parkinson disease have been identified: PARK2 (OMIM:600116), caused by mutation in the gene encoding parkin (PARK2; OMIM:602544) on 6q26; PARK6 (OMIM:605909), caused by mutation in the PINK1 gene (OMIM:608309) on 1p36; PARK7 (OMIM:606324), caused by mutation in the DJ1 gene (PARK7; OMIM:602533) on 1p36; PARK14 (OMIM:612953), caused by mutation in the PLA2G6 gene (OMIM:603604) on 22q13; PARK15 (OMIM:260300), caused by mutation in the FBXO7 gene (OMIM:605648) on 22q12-q13; PARK19A (OMIM:615528) and PARK19B (see OMIM:615528), caused by mutation in the DNAJC6 gene (OMIM:608375) on 1p32; and PARK20 (OMIM:615530), caused by mutation in the SYNJ1 gene (OMIM:604297) on 21q22.\n\nPARK3 (OMIM:602404) has been mapped to chromosome 2p13; PARK10 (OMIM:606852) has been mapped to chromosome 1p34-p32; PARK16 (OMIM:613164) has been mapped to chromosome 1q32. See also PARK21 (OMIM:616361). A locus on the X chromosome has been identified (PARK12; OMIM:300557). There is also evidence that mitochondrial mutations may cause or contribute to Parkinson disease (see OMIM:556500). Susceptibility to the development of the more common late-onset form of Parkinson disease has been associated with polymorphisms or mutations in several genes, including GBA (OMIM:606463), MAPT (OMIM:157140), MC1R (OMIM:155555), ADH1C (OMIM:103730), and genes at the HLA locus (see, e.g., HLA-DRA, OMIM:142860). Each of these risk factors independently may have a modest effect on disease development, but together may have a substantial cumulative effect ({44:Hamza et al., 2010}).\n\nSusceptibility to PD may also be conferred by expanded trinucleotide repeats in several genes causing other neurologic disorders usually characterized by spinocerebellar ataxia (SCA), including the ATXN2 (OMIM:601517), ATXN3 (OMIM:607047), TBP (OMIM:600075), and ATXN8OS (OMIM:603680) genes.", "See http://www.omim.org/entry/168600"], "id_eng": "OMIM:168600", "definition_kw": ["Parkinson disease was first described by James Parkinson in 1817. It is the second most common neurodegenerative disorder after Alzheimer disease (AD; OMIM:104300), affecting approximately 1% of the population over age 50 ({92:Polymeropoulos et al., 1996}).\n\n<Subhead> Reviews\n\n{130:Warner and Schapira (2003)} reviewed the genetic and environmental causes of Parkinson disease. {30:Feany (2004)} reviewed the genetics of Parkinson disease and provided a speculative model of interactions among proteins implicated in PD. {59:Lees et al. (2009)} provided a review of Parkinson disease, with emphasis on diagnosis, neuropathology, and treatment.\n\n<Subhead> Genetic Heterogeneity of Parkinson Disease\n\nSeveral loci for autosomal dominant Parkinson disease have been identified, including PARK1 (OMIM:168601) and PARK4, caused by mutation in or triplication of the alpha-synuclein gene (SNCA; OMIM:163890), respectively, on 4q22; PARK5 (OMIM:191342), caused by mutation in the UCHL1 gene on 4p13; PARK8 (OMIM:607060), caused by mutation in the LRRK2 gene (OMIM:609007) on 12q12; PARK11 (OMIM:607688), caused by mutation in the GIGYF2 gene (OMIM:612003) on 2q37; PARK13 (OMIM:610297), caused by mutation in the HTRA2 gene (OMIM:606441) on 2p13; PARK17 (OMIM:614203), caused by mutation in the VPS35 gene (OMIM:601501) on 16q11; and PARK18 (OMIM:614251), caused by mutation in the EIF4G1 gene (OMIM:600495) on 3q27.\n\nSeveral loci for autosomal recessive early-onset Parkinson disease have been identified: PARK2 (OMIM:600116), caused by mutation in the gene encoding parkin (PARK2; OMIM:602544) on 6q26; PARK6 (OMIM:605909), caused by mutation in the PINK1 gene (OMIM:608309) on 1p36; PARK7 (OMIM:606324), caused by mutation in the DJ1 gene (PARK7; OMIM:602533) on 1p36; PARK14 (OMIM:612953), caused by mutation in the PLA2G6 gene (OMIM:603604) on 22q13; PARK15 (OMIM:260300), caused by mutation in the FBXO7 gene (OMIM:605648) on 22q12-q13; PARK19A (OMIM:615528) and PARK19B (see OMIM:615528), caused by mutation in the DNAJC6 gene (OMIM:608375) on 1p32; and PARK20 (OMIM:615530), caused by mutation in the SYNJ1 gene (OMIM:604297) on 21q22.\n\nPARK3 (OMIM:602404) has been mapped to chromosome 2p13; PARK10 (OMIM:606852) has been mapped to chromosome 1p34-p32; PARK16 (OMIM:613164) has been mapped to chromosome 1q32. See also PARK21 (OMIM:616361). A locus on the X chromosome has been identified (PARK12; OMIM:300557). There is also evidence that mitochondrial mutations may cause or contribute to Parkinson disease (see OMIM:556500). Susceptibility to the development of the more common late-onset form of Parkinson disease has been associated with polymorphisms or mutations in several genes, including GBA (OMIM:606463), MAPT (OMIM:157140), MC1R (OMIM:155555), ADH1C (OMIM:103730), and genes at the HLA locus (see, e.g., HLA-DRA, OMIM:142860). Each of these risk factors independently may have a modest effect on disease development, but together may have a substantial cumulative effect ({44:Hamza et al., 2010}).\n\nSusceptibility to PD may also be conferred by expanded trinucleotide repeats in several genes causing other neurologic disorders usually characterized by spinocerebellar ataxia (SCA), including the ATXN2 (OMIM:601517), ATXN3 (OMIM:607047), TBP (OMIM:600075), and ATXN8OS (OMIM:603680) genes.", "See http://www.omim.org/entry/168600"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3160718"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_168600", "label_std": ["Parkinson Disease, Late-Onset", "Parkinson disease, late-onset"], "equivalent_curie": ["UMLS:C3160718"], "equivalent_curie_kw": ["UMLS:C3160718"], "synonym_eng": ["PD", "PARKINSON DISEASE, LATE-ONSET; PD", "Park"], "score": 26.08144, "id_kw": "OMIM:168600", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3160718"], "label_kw": ["Parkinson Disease, Late-Onset", "Parkinson disease, late-onset"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_168600", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3160718"], "_version_": 1580845512213397505, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_168600", "id": "OMIM:168600", "definition": ["Parkinson disease was first described by James Parkinson in 1817. It is the second most common neurodegenerative disorder after Alzheimer disease (AD; OMIM:104300), affecting approximately 1% of the population over age 50 ({92:Polymeropoulos et al., 1996}).\n\n<Subhead> Reviews\n\n{130:Warner and Schapira (2003)} reviewed the genetic and environmental causes of Parkinson disease. {30:Feany (2004)} reviewed the genetics of Parkinson disease and provided a speculative model of interactions among proteins implicated in PD. {59:Lees et al. (2009)} provided a review of Parkinson disease, with emphasis on diagnosis, neuropathology, and treatment.\n\n<Subhead> Genetic Heterogeneity of Parkinson Disease\n\nSeveral loci for autosomal dominant Parkinson disease have been identified, including PARK1 (OMIM:168601) and PARK4, caused by mutation in or triplication of the alpha-synuclein gene (SNCA; OMIM:163890), respectively, on 4q22; PARK5 (OMIM:191342), caused by mutation in the UCHL1 gene on 4p13; PARK8 (OMIM:607060), caused by mutation in the LRRK2 gene (OMIM:609007) on 12q12; PARK11 (OMIM:607688), caused by mutation in the GIGYF2 gene (OMIM:612003) on 2q37; PARK13 (OMIM:610297), caused by mutation in the HTRA2 gene (OMIM:606441) on 2p13; PARK17 (OMIM:614203), caused by mutation in the VPS35 gene (OMIM:601501) on 16q11; and PARK18 (OMIM:614251), caused by mutation in the EIF4G1 gene (OMIM:600495) on 3q27.\n\nSeveral loci for autosomal recessive early-onset Parkinson disease have been identified: PARK2 (OMIM:600116), caused by mutation in the gene encoding parkin (PARK2; OMIM:602544) on 6q26; PARK6 (OMIM:605909), caused by mutation in the PINK1 gene (OMIM:608309) on 1p36; PARK7 (OMIM:606324), caused by mutation in the DJ1 gene (PARK7; OMIM:602533) on 1p36; PARK14 (OMIM:612953), caused by mutation in the PLA2G6 gene (OMIM:603604) on 22q13; PARK15 (OMIM:260300), caused by mutation in the FBXO7 gene (OMIM:605648) on 22q12-q13; PARK19A (OMIM:615528) and PARK19B (see OMIM:615528), caused by mutation in the DNAJC6 gene (OMIM:608375) on 1p32; and PARK20 (OMIM:615530), caused by mutation in the SYNJ1 gene (OMIM:604297) on 21q22.\n\nPARK3 (OMIM:602404) has been mapped to chromosome 2p13; PARK10 (OMIM:606852) has been mapped to chromosome 1p34-p32; PARK16 (OMIM:613164) has been mapped to chromosome 1q32. See also PARK21 (OMIM:616361). A locus on the X chromosome has been identified (PARK12; OMIM:300557). There is also evidence that mitochondrial mutations may cause or contribute to Parkinson disease (see OMIM:556500). Susceptibility to the development of the more common late-onset form of Parkinson disease has been associated with polymorphisms or mutations in several genes, including GBA (OMIM:606463), MAPT (OMIM:157140), MC1R (OMIM:155555), ADH1C (OMIM:103730), and genes at the HLA locus (see, e.g., HLA-DRA, OMIM:142860). Each of these risk factors independently may have a modest effect on disease development, but together may have a substantial cumulative effect ({44:Hamza et al., 2010}).\n\nSusceptibility to PD may also be conferred by expanded trinucleotide repeats in several genes causing other neurologic disorders usually characterized by spinocerebellar ataxia (SCA), including the ATXN2 (OMIM:601517), ATXN3 (OMIM:607047), TBP (OMIM:600075), and ATXN8OS (OMIM:603680) genes.", "See http://www.omim.org/entry/168600"], "synonym_kw": ["PD", "PARKINSON DISEASE, LATE-ONSET; PD", "Park"], "synonym_std": ["PD", "PARKINSON DISEASE, LATE-ONSET; PD", "Park"], "label": ["Parkinson Disease, Late-Onset", "Parkinson disease, late-onset"], "definition_eng": ["Parkinson disease was first described by James Parkinson in 1817. It is the second most common neurodegenerative disorder after Alzheimer disease (AD; OMIM:104300), affecting approximately 1% of the population over age 50 ({92:Polymeropoulos et al., 1996}).\n\n<Subhead> Reviews\n\n{130:Warner and Schapira (2003)} reviewed the genetic and environmental causes of Parkinson disease. {30:Feany (2004)} reviewed the genetics of Parkinson disease and provided a speculative model of interactions among proteins implicated in PD. {59:Lees et al. (2009)} provided a review of Parkinson disease, with emphasis on diagnosis, neuropathology, and treatment.\n\n<Subhead> Genetic Heterogeneity of Parkinson Disease\n\nSeveral loci for autosomal dominant Parkinson disease have been identified, including PARK1 (OMIM:168601) and PARK4, caused by mutation in or triplication of the alpha-synuclein gene (SNCA; OMIM:163890), respectively, on 4q22; PARK5 (OMIM:191342), caused by mutation in the UCHL1 gene on 4p13; PARK8 (OMIM:607060), caused by mutation in the LRRK2 gene (OMIM:609007) on 12q12; PARK11 (OMIM:607688), caused by mutation in the GIGYF2 gene (OMIM:612003) on 2q37; PARK13 (OMIM:610297), caused by mutation in the HTRA2 gene (OMIM:606441) on 2p13; PARK17 (OMIM:614203), caused by mutation in the VPS35 gene (OMIM:601501) on 16q11; and PARK18 (OMIM:614251), caused by mutation in the EIF4G1 gene (OMIM:600495) on 3q27.\n\nSeveral loci for autosomal recessive early-onset Parkinson disease have been identified: PARK2 (OMIM:600116), caused by mutation in the gene encoding parkin (PARK2; OMIM:602544) on 6q26; PARK6 (OMIM:605909), caused by mutation in the PINK1 gene (OMIM:608309) on 1p36; PARK7 (OMIM:606324), caused by mutation in the DJ1 gene (PARK7; OMIM:602533) on 1p36; PARK14 (OMIM:612953), caused by mutation in the PLA2G6 gene (OMIM:603604) on 22q13; PARK15 (OMIM:260300), caused by mutation in the FBXO7 gene (OMIM:605648) on 22q12-q13; PARK19A (OMIM:615528) and PARK19B (see OMIM:615528), caused by mutation in the DNAJC6 gene (OMIM:608375) on 1p32; and PARK20 (OMIM:615530), caused by mutation in the SYNJ1 gene (OMIM:604297) on 21q22.\n\nPARK3 (OMIM:602404) has been mapped to chromosome 2p13; PARK10 (OMIM:606852) has been mapped to chromosome 1p34-p32; PARK16 (OMIM:613164) has been mapped to chromosome 1q32. See also PARK21 (OMIM:616361). A locus on the X chromosome has been identified (PARK12; OMIM:300557). There is also evidence that mitochondrial mutations may cause or contribute to Parkinson disease (see OMIM:556500). Susceptibility to the development of the more common late-onset form of Parkinson disease has been associated with polymorphisms or mutations in several genes, including GBA (OMIM:606463), MAPT (OMIM:157140), MC1R (OMIM:155555), ADH1C (OMIM:103730), and genes at the HLA locus (see, e.g., HLA-DRA, OMIM:142860). Each of these risk factors independently may have a modest effect on disease development, but together may have a substantial cumulative effect ({44:Hamza et al., 2010}).\n\nSusceptibility to PD may also be conferred by expanded trinucleotide repeats in several genes causing other neurologic disorders usually characterized by spinocerebellar ataxia (SCA), including the ATXN2 (OMIM:601517), ATXN3 (OMIM:607047), TBP (OMIM:600075), and ATXN8OS (OMIM:603680) genes.", "See http://www.omim.org/entry/168600"], "equivalent_curie_std": ["UMLS:C3160718"], "category": ["disease"]}, {"synonym": ["YOPD", "Early-onset Parkinson disease"], "equivalent_curie_eng": ["UMLS:C4275179", "UMLS:CN202824", "Orphanet:2828"], "leaf": false, "category_std": ["disease"], "id_std": "DOID:0060894", "iri": "http://purl.obolibrary.org/obo/DOID_0060894", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C4275179", "http://purl.obolibrary.org/obo/UMLS_CN202824", "http://www.orpha.net/ORDO/Orphanet_2828"], "label_eng": ["early-onset Parkinson disease"], "definition_std": ["Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms."], "id_eng": "DOID:0060894", "definition_kw": ["Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C4275179", "http://purl.obolibrary.org/obo/UMLS_CN202824", "http://www.orpha.net/ORDO/Orphanet_2828"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/DOID_0060894", "label_std": ["early-onset Parkinson disease"], "equivalent_curie": ["UMLS:C4275179", "UMLS:CN202824", "Orphanet:2828"], "equivalent_curie_kw": ["UMLS:C4275179", "UMLS:CN202824", "Orphanet:2828"], "synonym_eng": ["YOPD", "Early-onset Parkinson disease"], "score": 26.08144, "id_kw": "DOID:0060894", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C4275179", "http://purl.obolibrary.org/obo/UMLS_CN202824", "http://www.orpha.net/ORDO/Orphanet_2828"], "label_kw": ["early-onset Parkinson disease"], "iri_kw": "http://purl.obolibrary.org/obo/DOID_0060894", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C4275179", "http://purl.obolibrary.org/obo/UMLS_CN202824", "http://www.orpha.net/ORDO/Orphanet_2828"], "_version_": 1580845584858742789, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/DOID_0060894", "id": "DOID:0060894", "definition": ["Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms."], "synonym_kw": ["YOPD", "Early-onset Parkinson disease"], "synonym_std": ["YOPD", "Early-onset Parkinson disease"], "label": ["early-onset Parkinson disease"], "definition_eng": ["Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms."], "equivalent_curie_std": ["UMLS:C4275179", "UMLS:CN202824", "Orphanet:2828"], "category": ["disease"]}, {"synonym": ["PARKINSONISM WITH SPASTICITY, X-LINKED; XPDS", "XPDS"], "equivalent_curie_eng": ["UMLS:C3806722", "Orphanet:363654"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:300911", "iri": "http://purl.obolibrary.org/obo/OMIM_300911", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3806722", "http://www.orpha.net/ORDO/Orphanet_363654"], "label_eng": ["X-linked parkinsonism-spasticity syndrome", "Parkinsonism With Spasticity, X-Linked", "Parkinsonism with spasticity, X-linked"], "equivalent_curie_std": ["UMLS:C3806722", "Orphanet:363654"], "id_eng": "OMIM:300911", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3806722", "http://www.orpha.net/ORDO/Orphanet_363654"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_300911", "label_std": ["X-linked parkinsonism-spasticity syndrome", "Parkinsonism With Spasticity, X-Linked", "Parkinsonism with spasticity, X-linked"], "equivalent_curie": ["UMLS:C3806722", "Orphanet:363654"], "equivalent_curie_kw": ["UMLS:C3806722", "Orphanet:363654"], "synonym_eng": ["PARKINSONISM WITH SPASTICITY, X-LINKED; XPDS", "XPDS"], "score": 25.999283, "id_kw": "OMIM:300911", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3806722", "http://www.orpha.net/ORDO/Orphanet_363654"], "label_kw": ["X-linked parkinsonism-spasticity syndrome", "Parkinsonism With Spasticity, X-Linked", "Parkinsonism with spasticity, X-linked"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_300911", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3806722", "http://www.orpha.net/ORDO/Orphanet_363654"], "_version_": 1580845545833889792, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_300911", "id": "OMIM:300911", "synonym_kw": ["PARKINSONISM WITH SPASTICITY, X-LINKED; XPDS", "XPDS"], "synonym_std": ["PARKINSONISM WITH SPASTICITY, X-LINKED; XPDS", "XPDS"], "label": ["X-linked parkinsonism-spasticity syndrome", "Parkinsonism With Spasticity, X-Linked", "Parkinsonism with spasticity, X-linked"], "category": ["disease"]}, {"synonym": ["protein DJ-1", "protein deglycase DJ-1", "Parkinsonism associated deglycase", "Parkinson disease (autosomal recessive, early onset) 7", "protein/nucleic acid deglycase DJ-1", "PARK7_HUMAN", "DJ1", "DJ-1", "PARK7", "oncogene DJ1", "HEL-S-67p", "maillard deglycase", "GATD2", "epididymis secretory sperm binding protein Li 67p", "parkinson protein 7"], "equivalent_curie_eng": ["Orphanet:124084", "KEGG-hsa:11315", "ENSEMBL:ENSG00000116288", "OMIM:602533", "HGNC:16369"], "taxon_kw": "NCBITaxon:9606", "leaf": true, "category_std": ["gene"], "id_std": "NCBIGene:11315", "iri": "http://www.ncbi.nlm.nih.gov/gene/11315", "taxon_label_synonym_eng": ["Human", "man", "human", 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"Parkinson disease 7 domain-containing protein 1", "glutamine amidotransferase like class 1 domain containing 1", "PDDC1", "parkinson disease 7 domain-containing protein 1", "GALD1_HUMAN", "Parkinson disease 7 domain containing 1", "glutamine amidotransferase-like class 1 domain-containing protein 1"], "equivalent_curie": ["HGNC:26616", "ENSEMBL:ENSG00000177225", "KEGG-hsa:347862"], "taxon_label_eng": "Homo sapiens", "taxon": "NCBITaxon:9606", "taxon_label": "Homo sapiens", "id_kw": "NCBIGene:347862", "equivalent_iri_eng": ["http://identifiers.org/hgnc/HGNC:26616", "http://identifiers.org/ensembl/ENSG00000177225", "http://www.kegg.jp/dbget-bin/www_bget?hsa:347862"], "label_kw": ["GATD1"], "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/347862", "equivalent_iri": ["http://identifiers.org/hgnc/HGNC:26616", "http://identifiers.org/ensembl/ENSG00000177225", "http://www.kegg.jp/dbget-bin/www_bget?hsa:347862"], "taxon_eng": "NCBITaxon:9606", "_version_": 1580845535692062720, "category_eng": 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Induced Degeneration of the Striatum", "MPTP-Induced Parkinsonism", "Neurotoxicity Syndromes, MPTP", "MPTP Induced Parkinsonism", "Neurotoxicity Syndrome, MPTP", "MPTP-Induced Degeneration of the Striatum"], "equivalent_curie_eng": ["UMLS:C0751864"], "leaf": true, "category_std": ["disease"], "id_std": "MESH:D020267", "iri": "http://purl.obolibrary.org/obo/MESH_D020267", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C0751864"], "label_eng": ["MPTP Poisoning"], "definition_std": ["A condition caused by the neurotoxin MPTP which causes selective destruction of nigrostriatal dopaminergic neurons. Clinical features include irreversible parkinsonian signs including rigidity and bradykinesia (PARKINSON DISEASE, SECONDARY). MPTP toxicity is also used as an animal model for the study of PARKINSON DISEASE. (Adams et al., Principles of Neurology, 6th ed, p1072; Neurology 1986 Feb;36(2):250-8)"], "id_eng": "MESH:D020267", "definition_kw": ["A condition caused by the neurotoxin MPTP which causes selective destruction of nigrostriatal dopaminergic neurons. Clinical features include irreversible parkinsonian signs including rigidity and bradykinesia (PARKINSON DISEASE, SECONDARY). MPTP toxicity is also used as an animal model for the study of PARKINSON DISEASE. 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Clinical features include irreversible parkinsonian signs including rigidity and bradykinesia (PARKINSON DISEASE, SECONDARY). MPTP toxicity is also used as an animal model for the study of PARKINSON DISEASE. (Adams et al., Principles of Neurology, 6th ed, p1072; Neurology 1986 Feb;36(2):250-8)"], "synonym_kw": ["Parkinsonism, MPTP-Induced", "Poisoning, MPTP", "Poisoning, 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine", "MPTP Neurotoxicity Syndromes", "MPTP Neurotoxicity Syndrome", "MPTP Induced Degeneration of the Striatum", "MPTP-Induced Parkinsonism", "Neurotoxicity Syndromes, MPTP", "MPTP Induced Parkinsonism", "Neurotoxicity Syndrome, MPTP", "MPTP-Induced Degeneration of the Striatum"], "synonym_std": ["Parkinsonism, MPTP-Induced", "Poisoning, MPTP", "Poisoning, 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine", "MPTP Neurotoxicity Syndromes", "MPTP Neurotoxicity Syndrome", "MPTP Induced Degeneration of the Striatum", "MPTP-Induced Parkinsonism", "Neurotoxicity Syndromes, MPTP", "MPTP Induced Parkinsonism", "Neurotoxicity Syndrome, MPTP", "MPTP-Induced Degeneration of the Striatum"], "label": ["MPTP Poisoning"], "definition_eng": ["A condition caused by the neurotoxin MPTP which causes selective destruction of nigrostriatal dopaminergic neurons. Clinical features include irreversible parkinsonian signs including rigidity and bradykinesia (PARKINSON DISEASE, SECONDARY). MPTP toxicity is also used as an animal model for the study of PARKINSON DISEASE. (Adams et al., Principles of Neurology, 6th ed, p1072; Neurology 1986 Feb;36(2):250-8)"], "equivalent_curie_std": ["UMLS:C0751864"], "category": ["disease"]}, {"label_std": ["Wolff-Parkinson-White syndrome", "Wolff-Parkinson-White syndrome (in other animals)"], "label_kw": ["Wolff-Parkinson-White syndrome", "Wolff-Parkinson-White syndrome (in other animals)"], "leaf": false, "category_std": ["disease"], "id_std": "OMIA:001194", "iri": "http://purl.obolibrary.org/obo/OMIA_001194", "iri_eng": "http://purl.obolibrary.org/obo/OMIA_001194", "label_eng": ["Wolff-Parkinson-White syndrome", "Wolff-Parkinson-White syndrome (in other animals)"], "iri_kw": "http://purl.obolibrary.org/obo/OMIA_001194", "id_eng": "OMIA:001194", "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIA_001194", "id": "OMIA:001194", "category_kw": ["disease"], "label": ["Wolff-Parkinson-White syndrome", "Wolff-Parkinson-White syndrome (in other animals)"], "score": 25.588268, "_version_": 1580845548616810500, "id_kw": "OMIA:001194", "category": ["disease"]}, {"synonym": ["LOPD", "Autosomal dominant late-onset Parkinson disease"], "equivalent_curie_eng": ["UMLS:CN237447", "UMLS:C4274355"], "leaf": false, "category_std": ["disease"], "id_std": "Orphanet:411602", "iri": "http://www.orpha.net/ORDO/Orphanet_411602", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_CN237447", "http://purl.obolibrary.org/obo/UMLS_C4274355"], "label_eng": ["Hereditary late-onset Parkinson disease"], "definition_std": ["Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. 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Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID)."], "equivalent_curie_std": ["UMLS:CN237447", "UMLS:C4274355"], "category": ["disease"]}, {"synonym": ["DEMENTIA/PARKINSONISM WITH NON-ALZHEIMER AMYLOID PLAQUES"], "equivalent_curie_eng": ["MESH:C565115", "UMLS:C1852223"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:125320", "iri": "http://purl.obolibrary.org/obo/OMIM_125320", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/MESH_C565115", "http://purl.obolibrary.org/obo/UMLS_C1852223"], "label_eng": ["Dementia/Parkinsonism With Non-Alzheimer Amyloid Plaques"], "equivalent_curie_std": ["MESH:C565115", "UMLS:C1852223"], "id_eng": "OMIM:125320", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/MESH_C565115", "http://purl.obolibrary.org/obo/UMLS_C1852223"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_125320", "label_std": ["Dementia/Parkinsonism With 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["http://www.ncbi.nlm.nih.gov/gene/57320", "http://identifiers.org/ensembl/ENSMUSG00000028964"], "category_kw": ["gene"], "taxon_label_synonym": ["mouse", "Mouse", "house mouse", "mice C57BL/6xCBA/CaJ hybrid", "Mus muscaris"], "equivalent_curie_kw": ["NCBIGene:57320", "ENSEMBL:ENSMUSG00000028964"], "taxon_label_std": "Mus musculus", "iri_eng": "http://www.informatics.jax.org/accession/MGI:2135637", "label_std": ["Park7"], "taxon_label_kw": "Mus musculus", "synonym_eng": ["Parkinson disease (autosomal recessive, early onset) 7", "DJ-1"], "equivalent_curie": ["NCBIGene:57320", "ENSEMBL:ENSMUSG00000028964"], "taxon_label_eng": "Mus musculus", "taxon": "NCBITaxon:10090", "taxon_label": "Mus musculus", "id_kw": "MGI:2135637", "equivalent_iri_eng": ["http://www.ncbi.nlm.nih.gov/gene/57320", "http://identifiers.org/ensembl/ENSMUSG00000028964"], "label_kw": ["Park7"], "iri_kw": "http://www.informatics.jax.org/accession/MGI:2135637", "equivalent_iri": ["http://www.ncbi.nlm.nih.gov/gene/57320", "http://identifiers.org/ensembl/ENSMUSG00000028964"], "taxon_eng": "NCBITaxon:10090", "_version_": 1580845558318235649, "category_eng": ["gene"], "iri_std": "http://www.informatics.jax.org/accession/MGI:2135637", "id": "MGI:2135637", "synonym_kw": ["Parkinson disease (autosomal recessive, early onset) 7", "DJ-1"], "synonym_std": ["Parkinson disease (autosomal recessive, early onset) 7", "DJ-1"], "label": ["Park7"], "score": 25.225359, "category": ["gene"]}, {"synonym": ["Parkinson disease 7 domain-containing protein 1", "PDDC1"], "equivalent_curie_eng": ["ENSEMBL:ENSCAFG00000031406"], "taxon_kw": "NCBITaxon:9615", "leaf": true, "category_std": ["gene"], "id_std": "NCBIGene:610760", "iri": "http://www.ncbi.nlm.nih.gov/gene/610760", "taxon_label_synonym_eng": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "taxon_label_synonym_kw": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSCAFG00000031406"], "label_eng": ["LOC610760"], "equivalent_curie_std": ["ENSEMBL:ENSCAFG00000031406"], "id_eng": "NCBIGene:610760", "taxon_label_synonym_std": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "taxon_std": "NCBITaxon:9615", "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSCAFG00000031406"], "category_kw": ["gene"], "taxon_label_synonym": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "equivalent_curie_kw": ["ENSEMBL:ENSCAFG00000031406"], "taxon_label_std": "Canis lupus familiaris", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/610760", "label_std": ["LOC610760"], "taxon_label_kw": "Canis lupus familiaris", "synonym_eng": ["Parkinson disease 7 domain-containing protein 1", "PDDC1"], "equivalent_curie": ["ENSEMBL:ENSCAFG00000031406"], "taxon_label_eng": "Canis lupus familiaris", "taxon": "NCBITaxon:9615", "taxon_label": "Canis lupus familiaris", "id_kw": "NCBIGene:610760", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSCAFG00000031406"], "label_kw": ["LOC610760"], "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/610760", "equivalent_iri": ["http://identifiers.org/ensembl/ENSCAFG00000031406"], "taxon_eng": "NCBITaxon:9615", "_version_": 1580845629279567873, "category_eng": ["gene"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/610760", "id": "NCBIGene:610760", "synonym_kw": ["Parkinson disease 7 domain-containing protein 1", "PDDC1"], "synonym_std": ["Parkinson disease 7 domain-containing protein 1", "PDDC1"], "label": ["LOC610760"], "score": 25.225359, "category": ["gene"]}, {"synonym": ["xdp"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK1489", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK1489", "label_eng": ["X-Linked Dystonia-Parkinsonism Syndrome"], "definition_std": ["Individuals with X-linked dystonia-parkinsonism (XDP) have dystonia of varying severity and parkinsonism. XDP afflicts primarily Filipino men and, rarely, women. The mean age of onset in men is 39 years; the clinical course is highly variable with parkinsonism as the initial presenting sign, overshadowed by dystonia as the disease progresses. Features of parkinsonism include resting tremor, bradykinesia, rigidity, postural instability, and severe shuffling gait. The dystonia develops focally, most commonly in the jaw, neck, trunk, and eyes, and less commonly in the limbs, tongue, pharynx, and larynx, the most characteristic being jaw dystonia often progressing to neck dystonia. Individuals with pure parkinsonism have non-disabling symptoms that are only slowly progressive; those who develop a combination of parkinsonism and dystonia can develop multifocal or generalized symptoms within a few years and die prematurely from pneumonia or intercurrent infections. Female carriers are mostly asymptomatic, though a small minority may manifest dystonia, parkinsonism, or chorea. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1489]"], "id_eng": "GeneReviews:NBK1489", "definition_kw": ["Individuals with X-linked dystonia-parkinsonism (XDP) have dystonia of varying severity and parkinsonism. XDP afflicts primarily Filipino men and, rarely, women. The mean age of onset in men is 39 years; the clinical course is highly variable with parkinsonism as the initial presenting sign, overshadowed by dystonia as the disease progresses. Features of parkinsonism include resting tremor, bradykinesia, rigidity, postural instability, and severe shuffling gait. The dystonia develops focally, most commonly in the jaw, neck, trunk, and eyes, and less commonly in the limbs, tongue, pharynx, and larynx, the most characteristic being jaw dystonia often progressing to neck dystonia. Individuals with pure parkinsonism have non-disabling symptoms that are only slowly progressive; those who develop a combination of parkinsonism and dystonia can develop multifocal or generalized symptoms within a few years and die prematurely from pneumonia or intercurrent infections. Female carriers are mostly asymptomatic, though a small minority may manifest dystonia, parkinsonism, or chorea. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1489]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK1489", "label_std": ["X-Linked Dystonia-Parkinsonism Syndrome"], "synonym_eng": ["xdp"], "score": 25.161528, "id_kw": "GeneReviews:NBK1489", "label_kw": ["X-Linked Dystonia-Parkinsonism Syndrome"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK1489", "_version_": 1580845509883461632, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK1489", "id": "GeneReviews:NBK1489", "definition": ["Individuals with X-linked dystonia-parkinsonism (XDP) have dystonia of varying severity and parkinsonism. XDP afflicts primarily Filipino men and, rarely, women. The mean age of onset in men is 39 years; the clinical course is highly variable with parkinsonism as the initial presenting sign, overshadowed by dystonia as the disease progresses. Features of parkinsonism include resting tremor, bradykinesia, rigidity, postural instability, and severe shuffling gait. The dystonia develops focally, most commonly in the jaw, neck, trunk, and eyes, and less commonly in the limbs, tongue, pharynx, and larynx, the most characteristic being jaw dystonia often progressing to neck dystonia. Individuals with pure parkinsonism have non-disabling symptoms that are only slowly progressive; those who develop a combination of parkinsonism and dystonia can develop multifocal or generalized symptoms within a few years and die prematurely from pneumonia or intercurrent infections. Female carriers are mostly asymptomatic, though a small minority may manifest dystonia, parkinsonism, or chorea. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1489]"], "synonym_kw": ["xdp"], "synonym_std": ["xdp"], "label": ["X-Linked Dystonia-Parkinsonism Syndrome"], "definition_eng": ["Individuals with X-linked dystonia-parkinsonism (XDP) have dystonia of varying severity and parkinsonism. XDP afflicts primarily Filipino men and, rarely, women. The mean age of onset in men is 39 years; the clinical course is highly variable with parkinsonism as the initial presenting sign, overshadowed by dystonia as the disease progresses. Features of parkinsonism include resting tremor, bradykinesia, rigidity, postural instability, and severe shuffling gait. The dystonia develops focally, most commonly in the jaw, neck, trunk, and eyes, and less commonly in the limbs, tongue, pharynx, and larynx, the most characteristic being jaw dystonia often progressing to neck dystonia. Individuals with pure parkinsonism have non-disabling symptoms that are only slowly progressive; those who develop a combination of parkinsonism and dystonia can develop multifocal or generalized symptoms within a few years and die prematurely from pneumonia or intercurrent infections. Female carriers are mostly asymptomatic, though a small minority may manifest dystonia, parkinsonism, or chorea. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1489]"], "category": ["disease"]}, {"synonym": ["lrrk2"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK1208", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK1208", "label_eng": ["LRRK2-Related Parkinson Disease"], "definition_std": ["LRRK2-related Parkinson disease (PD) is characterized by features consistent with idiopathic PD: initial motor features of slowly progressive asymmetric tremor at rest and/or bradykinesia, cog-wheel muscle rigidity, postural instability, and gait abnormalities that may include festination and freezing. Non-motor symptoms in LRRK2-related PD occur with similar frequency as observed in typical idiopathic PD. Onset is generally after age 50 years. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1208]"], "id_eng": "GeneReviews:NBK1208", "definition_kw": ["LRRK2-related Parkinson disease (PD) is characterized by features consistent with idiopathic PD: initial motor features of slowly progressive asymmetric tremor at rest and/or bradykinesia, cog-wheel muscle rigidity, postural instability, and gait abnormalities that may include festination and freezing. Non-motor symptoms in LRRK2-related PD occur with similar frequency as observed in typical idiopathic PD. Onset is generally after age 50 years. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1208]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK1208", "label_std": ["LRRK2-Related Parkinson Disease"], "synonym_eng": ["lrrk2"], "score": 25.161528, "id_kw": "GeneReviews:NBK1208", "label_kw": ["LRRK2-Related Parkinson Disease"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK1208", "_version_": 1580845511221444608, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK1208", "id": "GeneReviews:NBK1208", "definition": ["LRRK2-related Parkinson disease (PD) is characterized by features consistent with idiopathic PD: initial motor features of slowly progressive asymmetric tremor at rest and/or bradykinesia, cog-wheel muscle rigidity, postural instability, and gait abnormalities that may include festination and freezing. Non-motor symptoms in LRRK2-related PD occur with similar frequency as observed in typical idiopathic PD. Onset is generally after age 50 years. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1208]"], "synonym_kw": ["lrrk2"], "synonym_std": ["lrrk2"], "label": ["LRRK2-Related Parkinson Disease"], "definition_eng": ["LRRK2-related Parkinson disease (PD) is characterized by features consistent with idiopathic PD: initial motor features of slowly progressive asymmetric tremor at rest and/or bradykinesia, cog-wheel muscle rigidity, postural instability, and gait abnormalities that may include festination and freezing. Non-motor symptoms in LRRK2-related PD occur with similar frequency as observed in typical idiopathic PD. Onset is generally after age 50 years. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1208]"], "category": ["disease"]}, {"synonym": ["vps35-pd"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK447258", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK447258", "label_eng": ["VPS35-Related Parkinson Disease"], "id_eng": "GeneReviews:NBK447258", "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK447258", "label_std": ["VPS35-Related Parkinson Disease"], "synonym_eng": ["vps35-pd"], "score": 25.161528, "id_kw": "GeneReviews:NBK447258", "label_kw": ["VPS35-Related Parkinson Disease"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK447258", "_version_": 1580845512187183104, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK447258", "id": "GeneReviews:NBK447258", "synonym_kw": ["vps35-pd"], "synonym_std": ["vps35-pd"], "label": ["VPS35-Related Parkinson Disease"], "category": ["disease"]}, {"synonym": ["CLN12 disease"], "equivalent_curie_eng": ["UMLS:CN203776"], "leaf": true, "category_std": ["disease"], "id_std": "Orphanet:314632", "iri": "http://www.orpha.net/ORDO/Orphanet_314632", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_CN203776"], "label_eng": ["Parkinsonism due to ATP13A2 deficiency"], "equivalent_curie_std": ["UMLS:CN203776"], "id_eng": "Orphanet:314632", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_CN203776"], "category_kw": ["disease"], "iri_eng": "http://www.orpha.net/ORDO/Orphanet_314632", "label_std": ["Parkinsonism due to ATP13A2 deficiency"], "equivalent_curie": ["UMLS:CN203776"], "equivalent_curie_kw": ["UMLS:CN203776"], "synonym_eng": ["CLN12 disease"], "score": 25.161528, "id_kw": "Orphanet:314632", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_CN203776"], "label_kw": ["Parkinsonism due to ATP13A2 deficiency"], "iri_kw": "http://www.orpha.net/ORDO/Orphanet_314632", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_CN203776"], "_version_": 1580845512664285184, "category_eng": ["disease"], "iri_std": "http://www.orpha.net/ORDO/Orphanet_314632", "id": "Orphanet:314632", "synonym_kw": ["CLN12 disease"], "synonym_std": ["CLN12 disease"], "label": ["Parkinsonism due to ATP13A2 deficiency"], "category": ["disease"]}, {"equivalent_curie_eng": ["UMLS:CN204972"], "leaf": false, "category_std": ["disease"], "id_std": "Orphanet:391411", "iri": "http://www.orpha.net/ORDO/Orphanet_391411", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_CN204972"], "label_eng": ["Atypical juvenile parkinsonism"], "definition_std": ["Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms."], "id_eng": "Orphanet:391411", "definition_kw": ["Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_CN204972"], "category_kw": ["disease"], "iri_eng": "http://www.orpha.net/ORDO/Orphanet_391411", "label_std": ["Atypical juvenile parkinsonism"], "equivalent_curie": ["UMLS:CN204972"], "equivalent_curie_kw": ["UMLS:CN204972"], "score": 25.161528, "id_kw": "Orphanet:391411", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_CN204972"], "label_kw": ["Atypical juvenile parkinsonism"], "iri_kw": "http://www.orpha.net/ORDO/Orphanet_391411", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_CN204972"], "_version_": 1580845512778579968, "category_eng": ["disease"], "iri_std": "http://www.orpha.net/ORDO/Orphanet_391411", "id": "Orphanet:391411", "definition": ["Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms."], "label": ["Atypical juvenile parkinsonism"], "definition_eng": ["Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms."], "equivalent_curie_std": ["UMLS:CN204972"], "category": ["disease"]}, {"label_std": ["juvenile-onset Parkinson disease"], "label_kw": ["juvenile-onset Parkinson disease"], "leaf": false, "category_std": ["disease"], "id_std": "DOID:0060893", "iri": "http://purl.obolibrary.org/obo/DOID_0060893", "iri_eng": "http://purl.obolibrary.org/obo/DOID_0060893", "label_eng": ["juvenile-onset Parkinson disease"], "iri_kw": "http://purl.obolibrary.org/obo/DOID_0060893", "id_eng": "DOID:0060893", "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/DOID_0060893", "id": "DOID:0060893", "category_kw": ["disease"], "label": ["juvenile-onset Parkinson disease"], "score": 25.161528, "_version_": 1580845610994499584, "id_kw": "DOID:0060893", "category": ["disease"]}, {"label_std": ["late onset Parkinson disease"], "label_kw": ["late onset Parkinson disease"], "leaf": false, "category_std": ["disease"], "id_std": "DOID:0060892", "iri": "http://purl.obolibrary.org/obo/DOID_0060892", "iri_eng": "http://purl.obolibrary.org/obo/DOID_0060892", "label_eng": ["late onset Parkinson disease"], "iri_kw": "http://purl.obolibrary.org/obo/DOID_0060892", "id_eng": "DOID:0060892", "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/DOID_0060892", "id": "DOID:0060892", "category_kw": ["disease"], "label": ["late onset Parkinson disease"], "score": 25.161528, "_version_": 1580845610994499586, "id_kw": "DOID:0060892", "category": ["disease"]}, {"equivalent_curie_eng": ["UMLS:CN206908"], "leaf": true, "category_std": ["disease"], "id_std": "Orphanet:97355", "iri": "http://www.orpha.net/ORDO/Orphanet_97355", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_CN206908"], "label_eng": ["Parkinsonism with dementia of Guadeloupe"], "definition_std": ["Parkinsonism with dementia of Guadeloupe is characterised by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction."], "id_eng": "Orphanet:97355", "definition_kw": ["Parkinsonism with dementia of Guadeloupe is characterised by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_CN206908"], "category_kw": ["disease"], "iri_eng": "http://www.orpha.net/ORDO/Orphanet_97355", "label_std": ["Parkinsonism with dementia of Guadeloupe"], "equivalent_curie": ["UMLS:CN206908"], "equivalent_curie_kw": ["UMLS:CN206908"], "score": 25.161528, "id_kw": "Orphanet:97355", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_CN206908"], "label_kw": ["Parkinsonism with dementia of Guadeloupe"], "iri_kw": "http://www.orpha.net/ORDO/Orphanet_97355", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_CN206908"], "_version_": 1580845611293343746, "category_eng": ["disease"], "iri_std": "http://www.orpha.net/ORDO/Orphanet_97355", "id": "Orphanet:97355", "definition": ["Parkinsonism with dementia of Guadeloupe is characterised by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction."], "label": ["Parkinsonism with dementia of Guadeloupe"], "definition_eng": ["Parkinsonism with dementia of Guadeloupe is characterised by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction."], "equivalent_curie_std": ["UMLS:CN206908"], "category": ["disease"]}, {"equivalent_curie_eng": ["UMLS:CN227172"], "leaf": false, "category_std": ["disease"], "id_std": "Orphanet:307052", "iri": "http://www.orpha.net/ORDO/Orphanet_307052", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_CN227172"], "label_eng": ["Rare genetic parkinsonian disorder"], "equivalent_curie_std": ["UMLS:CN227172"], "id_eng": "Orphanet:307052", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_CN227172"], "category_kw": ["disease"], "iri_eng": "http://www.orpha.net/ORDO/Orphanet_307052", "label_std": ["Rare genetic parkinsonian disorder"], "equivalent_curie": ["UMLS:CN227172"], "equivalent_curie_kw": ["UMLS:CN227172"], "score": 25.161528, "id_kw": "Orphanet:307052", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_CN227172"], "label_kw": ["Rare genetic parkinsonian disorder"], "iri_kw": "http://www.orpha.net/ORDO/Orphanet_307052", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_CN227172"], "_version_": 1580845612810633217, "category_eng": ["disease"], "iri_std": "http://www.orpha.net/ORDO/Orphanet_307052", "id": "Orphanet:307052", "label": ["Rare genetic parkinsonian disorder"], "category": ["disease"]}, {"leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0001716", "iri": "http://purl.obolibrary.org/obo/HP_0001716", "label_eng": ["Wolff-Parkinson-White syndrome"], "definition_std": ["A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway."], "id_eng": "HP:0001716", "definition_kw": ["A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0001716", "label_std": ["Wolff-Parkinson-White syndrome"], "score": 25.161528, "id_kw": "HP:0001716", "label_kw": ["Wolff-Parkinson-White syndrome"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0001716", "_version_": 1580845573455478786, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0001716", "id": "HP:0001716", "definition": ["A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway."], "label": ["Wolff-Parkinson-White syndrome"], "definition_eng": ["A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway."], "category": ["Phenotype"]}, {"equivalent_curie_eng": ["UMLS:CN203536"], "leaf": true, "category_std": ["disease"], "id_std": "Orphanet:306692", "iri": "http://www.orpha.net/ORDO/Orphanet_306692", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_CN203536"], "label_eng": ["Cyanide-induced parkinsonism"], "equivalent_curie_std": ["UMLS:CN203536"], "id_eng": "Orphanet:306692", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_CN203536"], "category_kw": ["disease"], "iri_eng": "http://www.orpha.net/ORDO/Orphanet_306692", "label_std": ["Cyanide-induced parkinsonism"], "equivalent_curie": ["UMLS:CN203536"], "equivalent_curie_kw": ["UMLS:CN203536"], "score": 25.161528, "id_kw": "Orphanet:306692", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_CN203536"], "label_kw": ["Cyanide-induced parkinsonism"], "iri_kw": "http://www.orpha.net/ORDO/Orphanet_306692", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_CN203536"], "_version_": 1580845617057366018, "category_eng": ["disease"], "iri_std": "http://www.orpha.net/ORDO/Orphanet_306692", "id": "Orphanet:306692", "label": ["Cyanide-induced parkinsonism"], "category": ["disease"]}, {"label_std": ["Rare parkinsonian disorder"], "label_kw": ["Rare parkinsonian disorder"], "leaf": false, "category_std": ["disease"], "id_std": "Orphanet:68402", "iri": "http://www.orpha.net/ORDO/Orphanet_68402", "iri_eng": "http://www.orpha.net/ORDO/Orphanet_68402", "label_eng": ["Rare parkinsonian disorder"], "iri_kw": "http://www.orpha.net/ORDO/Orphanet_68402", "id_eng": "Orphanet:68402", "category_eng": ["disease"], "iri_std": "http://www.orpha.net/ORDO/Orphanet_68402", "id": "Orphanet:68402", "category_kw": ["disease"], "label": ["Rare parkinsonian disorder"], "score": 25.161528, "_version_": 1580845620633010176, "id_kw": "Orphanet:68402", "category": ["disease"]}, {"synonym": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "parkin RBR E3 ubiquitin protein ligase", "E3 ubiquitin-protein ligase parkin"], "equivalent_curie_eng": ["ENSEMBL:ENSGALG00000011562"], "taxon_kw": "NCBITaxon:9031", "leaf": true, "category_std": ["gene"], "id_std": "NCBIGene:421577", "iri": "http://www.ncbi.nlm.nih.gov/gene/421577", "taxon_label_synonym_eng": ["chickens", "chicken", "bantam", "Gallus domesticus", "Gallus gallus domesticus"], "taxon_label_synonym_kw": ["chickens", "chicken", "bantam", "Gallus domesticus", "Gallus gallus domesticus"], "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSGALG00000011562"], "label_eng": ["PARK2"], "equivalent_curie_std": ["ENSEMBL:ENSGALG00000011562"], "id_eng": "NCBIGene:421577", "taxon_label_synonym_std": ["chickens", "chicken", "bantam", "Gallus domesticus", "Gallus gallus domesticus"], "taxon_std": "NCBITaxon:9031", "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSGALG00000011562"], "category_kw": ["gene"], "taxon_label_synonym": ["chickens", "chicken", "bantam", "Gallus domesticus", "Gallus gallus domesticus"], "equivalent_curie_kw": ["ENSEMBL:ENSGALG00000011562"], "taxon_label_std": "Gallus gallus", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/421577", "label_std": ["PARK2"], "taxon_label_kw": "Gallus gallus", "synonym_eng": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "parkin RBR E3 ubiquitin protein ligase", "E3 ubiquitin-protein ligase parkin"], "equivalent_curie": ["ENSEMBL:ENSGALG00000011562"], "taxon_label_eng": "Gallus gallus", "taxon": "NCBITaxon:9031", "taxon_label": "Gallus gallus", "id_kw": "NCBIGene:421577", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSGALG00000011562"], "label_kw": ["PARK2"], "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/421577", "equivalent_iri": ["http://identifiers.org/ensembl/ENSGALG00000011562"], "taxon_eng": "NCBITaxon:9031", "_version_": 1580845595569946624, "category_eng": ["gene"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/421577", "id": "NCBIGene:421577", "synonym_kw": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "parkin RBR E3 ubiquitin protein ligase", "E3 ubiquitin-protein ligase parkin"], "synonym_std": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "parkin RBR E3 ubiquitin protein ligase", "E3 ubiquitin-protein ligase parkin"], "label": ["PARK2"], "score": 24.667639, "category": ["gene"]}, {"synonym": ["Parkinson Disease 23, Autosomal Recessive Early-Onset", "PARK23", "autosomal recessive early-onset Parksinson disease type 23", "PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK23"], "equivalent_curie_eng": ["UMLS:CN235610", "UMLS:C4225186", "DOID:0060896"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:616840", "iri": "http://purl.obolibrary.org/obo/OMIM_616840", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_CN235610", "http://purl.obolibrary.org/obo/UMLS_C4225186", "http://purl.obolibrary.org/obo/DOID_0060896"], "label_eng": ["autosomal recessive early-onset Parksinson disease 23", "Parkinson Disease 23, Autosomal Recessive Early-Onset", "Parkinson disease 23, autosomal recessive early-onset"], "definition_std": ["Parkinson disease-23 is a progressive neurodegenerative disorder characterized by young-adult onset of parkinsonism associated with progressive cognitive impairment leading to dementia and dysautonomia. Some individuals have additional motor abnormalities. Affected individuals become severely disabled within a few decades (summary by {1:Lesage et al., 2016}).", "An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22."], "id_eng": "OMIM:616840", "definition_kw": ["Parkinson disease-23 is a progressive neurodegenerative disorder characterized by young-adult onset of parkinsonism associated with progressive cognitive impairment leading to dementia and dysautonomia. Some individuals have additional motor abnormalities. Affected individuals become severely disabled within a few decades (summary by {1:Lesage et al., 2016}).", "An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_CN235610", "http://purl.obolibrary.org/obo/UMLS_C4225186", "http://purl.obolibrary.org/obo/DOID_0060896"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_616840", "label_std": ["autosomal recessive early-onset Parksinson disease 23", "Parkinson Disease 23, Autosomal Recessive Early-Onset", "Parkinson disease 23, autosomal recessive early-onset"], "equivalent_curie": ["UMLS:CN235610", "UMLS:C4225186", "DOID:0060896"], "equivalent_curie_kw": ["UMLS:CN235610", "UMLS:C4225186", "DOID:0060896"], "synonym_eng": ["Parkinson Disease 23, Autosomal Recessive Early-Onset", "PARK23", "autosomal recessive early-onset Parksinson disease type 23", "PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK23"], "score": 24.667639, "id_kw": "OMIM:616840", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_CN235610", "http://purl.obolibrary.org/obo/UMLS_C4225186", "http://purl.obolibrary.org/obo/DOID_0060896"], "label_kw": ["autosomal recessive early-onset Parksinson disease 23", "Parkinson Disease 23, Autosomal Recessive Early-Onset", "Parkinson disease 23, autosomal recessive early-onset"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_616840", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_CN235610", "http://purl.obolibrary.org/obo/UMLS_C4225186", "http://purl.obolibrary.org/obo/DOID_0060896"], "_version_": 1580845545444868096, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_616840", "id": "OMIM:616840", "definition": ["Parkinson disease-23 is a progressive neurodegenerative disorder characterized by young-adult onset of parkinsonism associated with progressive cognitive impairment leading to dementia and dysautonomia. Some individuals have additional motor abnormalities. Affected individuals become severely disabled within a few decades (summary by {1:Lesage et al., 2016}).", "An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22."], "synonym_kw": ["Parkinson Disease 23, Autosomal Recessive Early-Onset", "PARK23", "autosomal recessive early-onset Parksinson disease type 23", "PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK23"], "synonym_std": ["Parkinson Disease 23, Autosomal Recessive Early-Onset", "PARK23", "autosomal recessive early-onset Parksinson disease type 23", "PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK23"], "label": ["autosomal recessive early-onset Parksinson disease 23", "Parkinson Disease 23, Autosomal Recessive Early-Onset", "Parkinson disease 23, autosomal recessive early-onset"], "definition_eng": ["Parkinson disease-23 is a progressive neurodegenerative disorder characterized by young-adult onset of parkinsonism associated with progressive cognitive impairment leading to dementia and dysautonomia. Some individuals have additional motor abnormalities. Affected individuals become severely disabled within a few decades (summary by {1:Lesage et al., 2016}).", "An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22."], "equivalent_curie_std": ["UMLS:CN235610", "UMLS:C4225186", "DOID:0060896"], "category": ["disease"]}, {"synonym": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "parkin RBR E3 ubiquitin protein ligase", "PARK2", "E3 ubiquitin-protein ligase parkin"], "equivalent_curie_eng": ["ENSEMBL:ENSPTRG00000018781"], "taxon_kw": "NCBITaxon:9598", "leaf": true, "category_std": ["gene"], "id_std": "NCBIGene:741350", "iri": "http://www.ncbi.nlm.nih.gov/gene/741350", "taxon_label_synonym_eng": ["Chimpansee troglodytes", "chimpanzee"], "taxon_label_synonym_kw": ["Chimpansee troglodytes", "chimpanzee"], "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSPTRG00000018781"], "label_eng": ["PRKN"], "equivalent_curie_std": ["ENSEMBL:ENSPTRG00000018781"], "id_eng": "NCBIGene:741350", "taxon_label_synonym_std": ["Chimpansee troglodytes", "chimpanzee"], "taxon_std": "NCBITaxon:9598", "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSPTRG00000018781"], "category_kw": ["gene"], "taxon_label_synonym": ["Chimpansee troglodytes", "chimpanzee"], "equivalent_curie_kw": ["ENSEMBL:ENSPTRG00000018781"], "taxon_label_std": "Pan troglodytes", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/741350", "label_std": ["PRKN"], "taxon_label_kw": "Pan troglodytes", "synonym_eng": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "parkin RBR E3 ubiquitin protein ligase", "PARK2", "E3 ubiquitin-protein ligase parkin"], "equivalent_curie": ["ENSEMBL:ENSPTRG00000018781"], "taxon_label_eng": "Pan troglodytes", "taxon": "NCBITaxon:9598", "taxon_label": "Pan troglodytes", "id_kw": "NCBIGene:741350", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSPTRG00000018781"], "label_kw": ["PRKN"], "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/741350", "equivalent_iri": ["http://identifiers.org/ensembl/ENSPTRG00000018781"], "taxon_eng": "NCBITaxon:9598", "_version_": 1580845625136644097, "category_eng": ["gene"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/741350", "id": "NCBIGene:741350", "synonym_kw": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "parkin RBR E3 ubiquitin protein ligase", "PARK2", "E3 ubiquitin-protein ligase parkin"], "synonym_std": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "parkin RBR E3 ubiquitin protein ligase", "PARK2", "E3 ubiquitin-protein ligase parkin"], "label": ["PRKN"], "score": 24.667639, "category": ["gene"]}, {"synonym": ["Resting tremor", "Parkinsonian tremor", "Rest tremor", "Tremor at rest"], "leaf": false, "category_std": ["Phenotype"], "id_std": "HP:0002322", "iri": "http://purl.obolibrary.org/obo/HP_0002322", "label_eng": ["Resting tremor"], "definition_std": ["A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse."], "id_eng": "HP:0002322", "definition_kw": ["A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0002322", "label_std": ["Resting tremor"], "synonym_eng": ["Resting tremor", "Parkinsonian tremor", "Rest tremor", "Tremor at rest"], "score": 23.923077, "id_kw": "HP:0002322", "label_kw": ["Resting tremor"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0002322", "_version_": 1580845592416878593, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0002322", "id": "HP:0002322", "definition": ["A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse."], "synonym_kw": ["Resting tremor", "Parkinsonian tremor", "Rest tremor", "Tremor at rest"], "synonym_std": ["Resting tremor", "Parkinsonian tremor", "Rest tremor", "Tremor at rest"], "label": ["Resting tremor"], "definition_eng": ["A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse."], "category": ["Phenotype"]}, {"synonym": ["CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM"], "equivalent_curie_eng": ["UMLS:C1861668", "MESH:C538079"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:118301", "iri": "http://purl.obolibrary.org/obo/OMIM_118301", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C1861668", "http://purl.obolibrary.org/obo/MESH_C538079"], "label_eng": ["Charcot-Marie-Tooth Disease With Ptosis and Parkinsonism"], "equivalent_curie_std": ["UMLS:C1861668", "MESH:C538079"], "id_eng": "OMIM:118301", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C1861668", "http://purl.obolibrary.org/obo/MESH_C538079"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_118301", "label_std": ["Charcot-Marie-Tooth Disease With Ptosis and Parkinsonism"], "equivalent_curie": ["UMLS:C1861668", "MESH:C538079"], "equivalent_curie_kw": ["UMLS:C1861668", "MESH:C538079"], "synonym_eng": ["CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM"], "score": 23.923077, "id_kw": "OMIM:118301", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C1861668", "http://purl.obolibrary.org/obo/MESH_C538079"], "label_kw": ["Charcot-Marie-Tooth Disease With Ptosis and Parkinsonism"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_118301", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C1861668", "http://purl.obolibrary.org/obo/MESH_C538079"], "_version_": 1580845550142488579, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_118301", "id": "OMIM:118301", "synonym_kw": ["CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM"], "synonym_std": ["CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM"], "label": ["Charcot-Marie-Tooth Disease With Ptosis and Parkinsonism"], "category": ["disease"]}, {"synonym": ["PRKN", "Parkinson disease (autosomal recessive, juvenile) 2, parkin", "Parkin"], "equivalent_curie_eng": ["NCBIGene:50873", "ENSEMBL:ENSMUSG00000023826"], "taxon_kw": "NCBITaxon:10090", "leaf": true, "category_std": ["gene"], "id_std": "MGI:1355296", "iri": "http://www.informatics.jax.org/accession/MGI:1355296", "taxon_label_synonym_eng": ["mouse", "Mouse", "house mouse", "mice C57BL/6xCBA/CaJ hybrid", "Mus muscaris"], "taxon_label_synonym_kw": ["mouse", "Mouse", "house mouse", "mice C57BL/6xCBA/CaJ hybrid", "Mus muscaris"], "equivalent_iri_kw": ["http://www.ncbi.nlm.nih.gov/gene/50873", "http://identifiers.org/ensembl/ENSMUSG00000023826"], "label_eng": ["Park2"], "equivalent_curie_std": ["NCBIGene:50873", "ENSEMBL:ENSMUSG00000023826"], "id_eng": "MGI:1355296", "taxon_label_synonym_std": ["mouse", "Mouse", "house mouse", "mice C57BL/6xCBA/CaJ hybrid", "Mus muscaris"], "taxon_std": "NCBITaxon:10090", "equivalent_iri_std": ["http://www.ncbi.nlm.nih.gov/gene/50873", "http://identifiers.org/ensembl/ENSMUSG00000023826"], "category_kw": ["gene"], "taxon_label_synonym": ["mouse", "Mouse", "house mouse", "mice C57BL/6xCBA/CaJ hybrid", "Mus muscaris"], "equivalent_curie_kw": ["NCBIGene:50873", "ENSEMBL:ENSMUSG00000023826"], "taxon_label_std": "Mus musculus", "iri_eng": "http://www.informatics.jax.org/accession/MGI:1355296", "label_std": ["Park2"], "taxon_label_kw": "Mus musculus", "synonym_eng": ["PRKN", "Parkinson disease (autosomal recessive, juvenile) 2, parkin", "Parkin"], "equivalent_curie": ["NCBIGene:50873", "ENSEMBL:ENSMUSG00000023826"], "taxon_label_eng": "Mus musculus", "taxon": "NCBITaxon:10090", "taxon_label": "Mus musculus", "id_kw": "MGI:1355296", "equivalent_iri_eng": ["http://www.ncbi.nlm.nih.gov/gene/50873", "http://identifiers.org/ensembl/ENSMUSG00000023826"], "label_kw": ["Park2"], "iri_kw": "http://www.informatics.jax.org/accession/MGI:1355296", "equivalent_iri": ["http://www.ncbi.nlm.nih.gov/gene/50873", "http://identifiers.org/ensembl/ENSMUSG00000023826"], "taxon_eng": "NCBITaxon:10090", "_version_": 1580845560470962177, "category_eng": ["gene"], "iri_std": "http://www.informatics.jax.org/accession/MGI:1355296", "id": "MGI:1355296", "synonym_kw": ["PRKN", "Parkinson disease (autosomal recessive, juvenile) 2, parkin", "Parkin"], "synonym_std": ["PRKN", "Parkinson disease (autosomal recessive, juvenile) 2, parkin", "Parkin"], "label": ["Park2"], "score": 23.923077, "category": ["gene"]}, {"synonym": ["LOC101077938", "CD151 antigen-like", "Parkinson disease 7 domain-containing protein 1-like"], "taxon_kw": "NCBITaxon:31033", "leaf": true, "category_std": ["gene"], "id_std": "NCBIGene:101078161", "iri": "http://www.ncbi.nlm.nih.gov/gene/101078161", "taxon_label_synonym_eng": ["Fugu rubripes", "Tetraodon rubripes", "tiger puffer", "Sphaeroides rubripes", "torafugu"], "taxon_label_synonym_kw": ["Fugu rubripes", "Tetraodon rubripes", "tiger puffer", "Sphaeroides rubripes", "torafugu"], "label_eng": ["LOC101078161"], "id_eng": "NCBIGene:101078161", "taxon_label_synonym_std": ["Fugu rubripes", "Tetraodon rubripes", "tiger puffer", "Sphaeroides 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["LOC101077938", "CD151 antigen-like", "Parkinson disease 7 domain-containing protein 1-like"], "label": ["LOC101078161"], "score": 23.923077, "category": ["gene"]}, {"synonym": ["protein deglycase DJ-1", "Parkinsonism associated deglycase", "SP22", "sperm protein at 22 kDa"], "equivalent_curie_eng": ["ENSEMBL:ENSECAG00000017251"], "taxon_kw": "NCBITaxon:9796", "leaf": true, "category_std": ["gene"], "id_std": "NCBIGene:100052123", "iri": "http://www.ncbi.nlm.nih.gov/gene/100052123", "taxon_label_synonym_eng": ["horse", "domestic horse", "Equus przewalskii f. caballus", "Equus ferus caballus", "equine", "Equus przewalskii forma caballus"], "taxon_label_synonym_kw": ["horse", "domestic horse", "Equus przewalskii f. caballus", "Equus ferus caballus", "equine", "Equus przewalskii forma caballus"], "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSECAG00000017251"], "label_eng": ["PARK7"], "equivalent_curie_std": ["ENSEMBL:ENSECAG00000017251"], "id_eng": "NCBIGene:100052123", 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with Parkinsonism 17", "Complices, Disinhibition-Dementia-Parkinsonism-Amytrophy", "Ubiquitin-Positive Frontotemporal Dementias", "Pick's Disease, Familial", "Frontotemporal Lobe Dementia", "Dementias, Frontotemporal Lobe (FLDEM)", "Disease, Wilhelmsen-Lynch", "Complex, Disinhibition-Dementia-Parkinsonism-Amytrophy", "Dementia, GRN-Related Frontotemporal", "FTD", "Familial Pick Disease", "Frontotemporal Dementias, Ubiquitin-Positive", "Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex", "Frontotemporal Dementia with Parkinsonism", "frontotemporal lobar degeneration", "GRN-Related Frontotemporal Dementia", "GRN Related Frontotemporal Dementia", "Dementia, Semantic", "Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions", "Disinhibition-Dementia-Parkinsonism-Amytrophy Complices", "Disinhibition-Dementia-Parkinsonism-Amyotrophy Complices", "Disinhibition Dementia Parkinsonism Amyotrophy Complex", "FTLD with TDP-43 Pathology", "Frontotemporal Dementias", "Dementias, Frontotemporal", "Wilhemsen-Lynch disease", "Frontotemporal Dementia, GRN-Related", "Dementias, Frontotemporal Lobe", "Dementia, Frontotemporal, with Parkinsonism", "FTLD with TDP 43 Pathology", "Semantic Dementia", "Dementia, Ubiquitin-Positive Frontotemporal", "Dementia, Frontotemporal", "Disinhibition Dementia Parkinsonism Amytrophy Complex", "Familial Pick's Diseases", "Diseases, Wilhelmsen-Lynch", "Ubiquitin-Positive Frontotemporal Dementia", "Frontotemporal Lobe Dementias", "Frontotemporal Dementia, Ubiquitin Positive", "Diseases, Familial Pick's", "Dementia, Frontotemporal Lobe", "Pick's Diseases, Familial", "Wilhelmsen Lynch Disease", "Dementia, Frontotemporal Lobe (FLDEM)", "Lobe Dementia, Frontotemporal", "Complex, Disinhibition-Dementia-Parkinsonism-Amyotrophy", "Dementia, Hereditary Dysphasic Disinhibition", "Dementias, Ubiquitin-Positive Frontotemporal", "Lobe Dementias, Frontotemporal", "Frontotemporal Lobar Degeneration With Ubiquitin Positive Inclusions"], "synonym_std": ["Familial Pick's Disease", "Disease, Familial Pick's", "pallidopontonigral degeneration", "Frontotemporal Dementia, Ubiquitin-Positive", "Dementias, Semantic", "Familial Picks Disease", "Multiple System Tauopathy with Presenile Dementia", "multiple system tauopathy with presenile dementia", "Frontotemporal Lobe Dementias (FLDEM)", "Wilhelmsen-Lynch Diseases", "Frontotemporal Lobe Dementia (FLDEM)", "Frontotemporal Dementias, GRN-Related", "Frontotemporal Dementia with Parkinsonism-17", "Complices, Disinhibition-Dementia-Parkinsonism-Amyotrophy", "Wilhelmsen-Lynch Disease", "Semantic Dementias", "Dementias, GRN-Related Frontotemporal", "Disinhibition-Dementia-Parkinsonism-Amytrophy Complex", "GRN-Related Frontotemporal Dementias", "Hereditary Dysphasic Disinhibition Dementia", "Frontotemporal Dementia with Parkinsonism 17", "Complices, Disinhibition-Dementia-Parkinsonism-Amytrophy", "Ubiquitin-Positive Frontotemporal Dementias", "Pick's Disease, Familial", "Frontotemporal Lobe Dementia", "Dementias, Frontotemporal Lobe (FLDEM)", "Disease, Wilhelmsen-Lynch", "Complex, Disinhibition-Dementia-Parkinsonism-Amytrophy", "Dementia, GRN-Related Frontotemporal", "FTD", "Familial Pick Disease", "Frontotemporal Dementias, Ubiquitin-Positive", "Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex", "Frontotemporal Dementia with Parkinsonism", "frontotemporal lobar degeneration", "GRN-Related Frontotemporal Dementia", "GRN Related Frontotemporal Dementia", "Dementia, Semantic", "Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions", "Disinhibition-Dementia-Parkinsonism-Amytrophy Complices", "Disinhibition-Dementia-Parkinsonism-Amyotrophy Complices", "Disinhibition Dementia Parkinsonism Amyotrophy Complex", "FTLD with TDP-43 Pathology", "Frontotemporal Dementias", "Dementias, Frontotemporal", "Wilhemsen-Lynch disease", "Frontotemporal Dementia, GRN-Related", "Dementias, Frontotemporal Lobe", "Dementia, Frontotemporal, with Parkinsonism", "FTLD with TDP 43 Pathology", "Semantic Dementia", "Dementia, Ubiquitin-Positive Frontotemporal", "Dementia, Frontotemporal", "Disinhibition Dementia Parkinsonism Amytrophy Complex", "Familial Pick's Diseases", "Diseases, Wilhelmsen-Lynch", "Ubiquitin-Positive Frontotemporal Dementia", "Frontotemporal Lobe Dementias", "Frontotemporal Dementia, Ubiquitin Positive", "Diseases, Familial Pick's", "Dementia, Frontotemporal Lobe", "Pick's Diseases, Familial", "Wilhelmsen Lynch Disease", "Dementia, Frontotemporal Lobe (FLDEM)", "Lobe Dementia, Frontotemporal", "Complex, Disinhibition-Dementia-Parkinsonism-Amyotrophy", "Dementia, Hereditary Dysphasic Disinhibition", "Dementias, Ubiquitin-Positive Frontotemporal", "Lobe Dementias, Frontotemporal", "Frontotemporal Lobar Degeneration With Ubiquitin Positive Inclusions"], "label": ["frontotemporal dementia"], "definition_eng": ["Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)."], "equivalent_curie_std": ["Orphanet:282", "MESH:D057180"], "category": ["disease"]}, {"synonym": ["Wilhelmsen-Lynch Disease", "Frontotemporal Lobar Degeneration With Tau Inclusions", "Ftdp17", "Pick Complex", "Frontotemporal Lobe Dementia", "rvFTD", "Ftld With Tau Inclusions", "RTLA", "Frontotemporal Dementia With Parkinsonism", "FRONTOTEMPORAL DEMENTIA; FTD", "Pallidopontonigral Degeneration", "FTD", "Dementia, Frontotemporal, With Parkinsonism", "Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex", "Multiple System Tauopathy With Presenile Dementia"], "equivalent_curie_eng": ["Orphanet:293848", "UMLS:CN203142", "UMLS:C4274349", "UMLS:C0338451"], "leaf": false, "category_std": ["disease"], "id_std": "OMIM:600274", "iri": "http://purl.obolibrary.org/obo/OMIM_600274", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_293848", "http://purl.obolibrary.org/obo/UMLS_CN203142", "http://purl.obolibrary.org/obo/UMLS_C4274349", "http://purl.obolibrary.org/obo/UMLS_C0338451"], "label_eng": ["Frontotemporal Dementia", "Frontotemporal dementia, right temporal atrophy variant", "Frontotemporal dementia"], "definition_std": ["Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy.", "Frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar degeneration (FTLD). FTD, the most common subtype of FTLD, is a behavioral variant characterized by changes in social and personal conduct with loss of volition, executive dysfunction, loss of abstract thought, and decreased speech output. A second clinical subtype of FTLD is 'semantic dementia,' characterized by specific loss of comprehension of language and impaired facial and object recognition. A third clinical subtype of FTLD is 'primary progressive aphasia' (PPA), characterized by a reduction in speech production, speech errors, and word retrieval difficulties resulting in mutism and an inability to communicate. All subtypes have relative preservation of memory, at least in the early stages. FTLD is often associated with parkinsonism or motor neuron disease (MND) resembling amyotrophic lateral sclerosis (ALS; OMIM:105400) (reviews by {47:Tolnay and Probst, 2002} and {32:Mackenzie and Rademakers, 2007}). {30,31:Mackenzie et al. (2009, 2010)} provided a classification of FTLD subtypes according to the neuropathologic findings (see PATHOGENESIS below).\n\n<Subhead> Clinical Variability of Tauopathies\n\nTauopathies comprise a clinically variable group of neurodegenerative diseases characterized neuropathologically by accumulation of abnormal MAPT-positive inclusions in nerve and/or glial cells. In addition to frontotemporal dementia, semantic dementia, and PPA, different clinical syndromes with overlapping features have been described, leading to confusion in the terminology ({47:Tolnay and Probst, 2002}). Other terms used historically include parkinsonism and dementia with pallidopontonigral degeneration (PPND) ({56:Wszolek et al., 1992}); disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC) ({29:Lynch et al., 1994}); frontotemporal dementia with parkinsonism (FLDEM) ({57:Yamaoka et al., 1996}); and multiple system tauopathy with presenile dementia (MSTD) ({46:Spillantini et al., 1997}). These disorders are characterized by variable degrees of frontal lobe dementia, parkinsonism, motor neuron disease, and amyotrophy.\n\nOther neurodegenerative associated with mutations in the MAPT gene include Pick disease (OMIM:172700) and progressive supranuclear palsy (PSP; OMIM:601104),\n\nInherited neurodegenerative tauopathies linked to chromosome 17 and caused by mutation in the MAPT gene have also been collectively termed 'FTDP17' ({28:Lee et al., 2001}).\n\n{25:Kertesz (2003)} suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), PSP, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies.\n\n<Subhead> Genetic Heterogeneity of Frontotemporal Lobar Degeneration\n\nMutations in several different genes can cause frontotemporal dementia and frontotemporal lobar degeneration, with or without motor neuron disease. See FTLD with TDP43 inclusions (OMIM:607485), caused by mutation in the GRN gene (OMIM:138945) on chromosome 17q21; FTLD mapping to chromosome 3 (OMIM:600795), caused by mutation in the CHMP2B gene (OMIM:609512); inclusion body myopathy with Paget disease and FTD (IBMPFD; OMIM:167320), caused by mutation in the VCP gene (OMIM:601023) on chromosome 9p13; ALS6 (OMIM:608030), caused by mutation in the FUS gene (OMIM:137070) on 16p11; ALS10 (OMIM:612069), caused by mutation in the TARDBP gene (OMIM:605078) on 1p36; and FTDALS (OMIM:105550), caused by mutation in the C9ORF72 gene (OMIM:614260) on 9p.\n\nIn 1 family with FTD, a mutation was identified in the presenilin-1 gene (PSEN1; OMIM:104311) on chromosome 14, which is usually associated with a familial form of early-onset Alzheimer disease (AD3; OMIM:607822)."], "id_eng": "OMIM:600274", "definition_kw": ["Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy.", "Frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar degeneration (FTLD). FTD, the most common subtype of FTLD, is a behavioral variant characterized by changes in social and personal conduct with loss of volition, executive dysfunction, loss of abstract thought, and decreased speech output. A second clinical subtype of FTLD is 'semantic dementia,' characterized by specific loss of comprehension of language and impaired facial and object recognition. A third clinical subtype of FTLD is 'primary progressive aphasia' (PPA), characterized by a reduction in speech production, speech errors, and word retrieval difficulties resulting in mutism and an inability to communicate. All subtypes have relative preservation of memory, at least in the early stages. FTLD is often associated with parkinsonism or motor neuron disease (MND) resembling amyotrophic lateral sclerosis (ALS; OMIM:105400) (reviews by {47:Tolnay and Probst, 2002} and {32:Mackenzie and Rademakers, 2007}). {30,31:Mackenzie et al. (2009, 2010)} provided a classification of FTLD subtypes according to the neuropathologic findings (see PATHOGENESIS below).\n\n<Subhead> Clinical Variability of Tauopathies\n\nTauopathies comprise a clinically variable group of neurodegenerative diseases characterized neuropathologically by accumulation of abnormal MAPT-positive inclusions in nerve and/or glial cells. In addition to frontotemporal dementia, semantic dementia, and PPA, different clinical syndromes with overlapping features have been described, leading to confusion in the terminology ({47:Tolnay and Probst, 2002}). Other terms used historically include parkinsonism and dementia with pallidopontonigral degeneration (PPND) ({56:Wszolek et al., 1992}); disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC) ({29:Lynch et al., 1994}); frontotemporal dementia with parkinsonism (FLDEM) ({57:Yamaoka et al., 1996}); and multiple system tauopathy with presenile dementia (MSTD) ({46:Spillantini et al., 1997}). These disorders are characterized by variable degrees of frontal lobe dementia, parkinsonism, motor neuron disease, and amyotrophy.\n\nOther neurodegenerative associated with mutations in the MAPT gene include Pick disease (OMIM:172700) and progressive supranuclear palsy (PSP; OMIM:601104),\n\nInherited neurodegenerative tauopathies linked to chromosome 17 and caused by mutation in the MAPT gene have also been collectively termed 'FTDP17' ({28:Lee et al., 2001}).\n\n{25:Kertesz (2003)} suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), PSP, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies.\n\n<Subhead> Genetic Heterogeneity of Frontotemporal Lobar Degeneration\n\nMutations in several different genes can cause frontotemporal dementia and frontotemporal lobar degeneration, with or without motor neuron disease. See FTLD with TDP43 inclusions (OMIM:607485), caused by mutation in the GRN gene (OMIM:138945) on chromosome 17q21; FTLD mapping to chromosome 3 (OMIM:600795), caused by mutation in the CHMP2B gene (OMIM:609512); inclusion body myopathy with Paget disease and FTD (IBMPFD; OMIM:167320), caused by mutation in the VCP gene (OMIM:601023) on chromosome 9p13; ALS6 (OMIM:608030), caused by mutation in the FUS gene (OMIM:137070) on 16p11; ALS10 (OMIM:612069), caused by mutation in the TARDBP gene (OMIM:605078) on 1p36; and FTDALS (OMIM:105550), caused by mutation in the C9ORF72 gene (OMIM:614260) on 9p.\n\nIn 1 family with FTD, a mutation was identified in the presenilin-1 gene (PSEN1; OMIM:104311) on chromosome 14, which is usually associated with a familial form of early-onset Alzheimer disease (AD3; OMIM:607822)."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_293848", "http://purl.obolibrary.org/obo/UMLS_CN203142", "http://purl.obolibrary.org/obo/UMLS_C4274349", "http://purl.obolibrary.org/obo/UMLS_C0338451"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_600274", "label_std": ["Frontotemporal Dementia", "Frontotemporal dementia, right temporal atrophy variant", "Frontotemporal dementia"], "equivalent_curie": ["Orphanet:293848", "UMLS:CN203142", "UMLS:C4274349", "UMLS:C0338451"], "equivalent_curie_kw": ["Orphanet:293848", "UMLS:CN203142", "UMLS:C4274349", "UMLS:C0338451"], "synonym_eng": ["Wilhelmsen-Lynch Disease", "Frontotemporal Lobar Degeneration With Tau Inclusions", "Ftdp17", "Pick Complex", "Frontotemporal Lobe Dementia", "rvFTD", "Ftld With Tau Inclusions", "RTLA", "Frontotemporal Dementia With Parkinsonism", "FRONTOTEMPORAL DEMENTIA; FTD", "Pallidopontonigral Degeneration", "FTD", "Dementia, Frontotemporal, With Parkinsonism", "Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex", "Multiple System Tauopathy With Presenile Dementia"], "score": 22.671932, "id_kw": "OMIM:600274", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_293848", "http://purl.obolibrary.org/obo/UMLS_CN203142", "http://purl.obolibrary.org/obo/UMLS_C4274349", "http://purl.obolibrary.org/obo/UMLS_C0338451"], "label_kw": ["Frontotemporal Dementia", "Frontotemporal dementia, right temporal atrophy variant", "Frontotemporal dementia"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_600274", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_293848", "http://purl.obolibrary.org/obo/UMLS_CN203142", "http://purl.obolibrary.org/obo/UMLS_C4274349", "http://purl.obolibrary.org/obo/UMLS_C0338451"], "_version_": 1580845510201180161, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_600274", "id": "OMIM:600274", "definition": ["Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy.", "Frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar degeneration (FTLD). FTD, the most common subtype of FTLD, is a behavioral variant characterized by changes in social and personal conduct with loss of volition, executive dysfunction, loss of abstract thought, and decreased speech output. A second clinical subtype of FTLD is 'semantic dementia,' characterized by specific loss of comprehension of language and impaired facial and object recognition. A third clinical subtype of FTLD is 'primary progressive aphasia' (PPA), characterized by a reduction in speech production, speech errors, and word retrieval difficulties resulting in mutism and an inability to communicate. All subtypes have relative preservation of memory, at least in the early stages. FTLD is often associated with parkinsonism or motor neuron disease (MND) resembling amyotrophic lateral sclerosis (ALS; OMIM:105400) (reviews by {47:Tolnay and Probst, 2002} and {32:Mackenzie and Rademakers, 2007}). {30,31:Mackenzie et al. (2009, 2010)} provided a classification of FTLD subtypes according to the neuropathologic findings (see PATHOGENESIS below).\n\n<Subhead> Clinical Variability of Tauopathies\n\nTauopathies comprise a clinically variable group of neurodegenerative diseases characterized neuropathologically by accumulation of abnormal MAPT-positive inclusions in nerve and/or glial cells. In addition to frontotemporal dementia, semantic dementia, and PPA, different clinical syndromes with overlapping features have been described, leading to confusion in the terminology ({47:Tolnay and Probst, 2002}). Other terms used historically include parkinsonism and dementia with pallidopontonigral degeneration (PPND) ({56:Wszolek et al., 1992}); disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC) ({29:Lynch et al., 1994}); frontotemporal dementia with parkinsonism (FLDEM) ({57:Yamaoka et al., 1996}); and multiple system tauopathy with presenile dementia (MSTD) ({46:Spillantini et al., 1997}). These disorders are characterized by variable degrees of frontal lobe dementia, parkinsonism, motor neuron disease, and amyotrophy.\n\nOther neurodegenerative associated with mutations in the MAPT gene include Pick disease (OMIM:172700) and progressive supranuclear palsy (PSP; OMIM:601104),\n\nInherited neurodegenerative tauopathies linked to chromosome 17 and caused by mutation in the MAPT gene have also been collectively termed 'FTDP17' ({28:Lee et al., 2001}).\n\n{25:Kertesz (2003)} suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), PSP, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies.\n\n<Subhead> Genetic Heterogeneity of Frontotemporal Lobar Degeneration\n\nMutations in several different genes can cause frontotemporal dementia and frontotemporal lobar degeneration, with or without motor neuron disease. See FTLD with TDP43 inclusions (OMIM:607485), caused by mutation in the GRN gene (OMIM:138945) on chromosome 17q21; FTLD mapping to chromosome 3 (OMIM:600795), caused by mutation in the CHMP2B gene (OMIM:609512); inclusion body myopathy with Paget disease and FTD (IBMPFD; OMIM:167320), caused by mutation in the VCP gene (OMIM:601023) on chromosome 9p13; ALS6 (OMIM:608030), caused by mutation in the FUS gene (OMIM:137070) on 16p11; ALS10 (OMIM:612069), caused by mutation in the TARDBP gene (OMIM:605078) on 1p36; and FTDALS (OMIM:105550), caused by mutation in the C9ORF72 gene (OMIM:614260) on 9p.\n\nIn 1 family with FTD, a mutation was identified in the presenilin-1 gene (PSEN1; OMIM:104311) on chromosome 14, which is usually associated with a familial form of early-onset Alzheimer disease (AD3; OMIM:607822)."], "synonym_kw": ["Wilhelmsen-Lynch Disease", "Frontotemporal Lobar Degeneration With Tau Inclusions", "Ftdp17", "Pick Complex", "Frontotemporal Lobe Dementia", "rvFTD", "Ftld With Tau Inclusions", "RTLA", "Frontotemporal Dementia With Parkinsonism", "FRONTOTEMPORAL DEMENTIA; FTD", "Pallidopontonigral Degeneration", "FTD", "Dementia, Frontotemporal, With Parkinsonism", "Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex", "Multiple System Tauopathy With Presenile Dementia"], "synonym_std": ["Wilhelmsen-Lynch Disease", "Frontotemporal Lobar Degeneration With Tau Inclusions", "Ftdp17", "Pick Complex", "Frontotemporal Lobe Dementia", "rvFTD", "Ftld With Tau Inclusions", "RTLA", "Frontotemporal Dementia With Parkinsonism", "FRONTOTEMPORAL DEMENTIA; FTD", "Pallidopontonigral Degeneration", "FTD", "Dementia, Frontotemporal, With Parkinsonism", "Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex", "Multiple System Tauopathy With Presenile Dementia"], "label": ["Frontotemporal Dementia", "Frontotemporal dementia, right temporal atrophy variant", "Frontotemporal dementia"], "definition_eng": ["Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy.", "Frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar degeneration (FTLD). FTD, the most common subtype of FTLD, is a behavioral variant characterized by changes in social and personal conduct with loss of volition, executive dysfunction, loss of abstract thought, and decreased speech output. A second clinical subtype of FTLD is 'semantic dementia,' characterized by specific loss of comprehension of language and impaired facial and object recognition. A third clinical subtype of FTLD is 'primary progressive aphasia' (PPA), characterized by a reduction in speech production, speech errors, and word retrieval difficulties resulting in mutism and an inability to communicate. All subtypes have relative preservation of memory, at least in the early stages. FTLD is often associated with parkinsonism or motor neuron disease (MND) resembling amyotrophic lateral sclerosis (ALS; OMIM:105400) (reviews by {47:Tolnay and Probst, 2002} and {32:Mackenzie and Rademakers, 2007}). {30,31:Mackenzie et al. (2009, 2010)} provided a classification of FTLD subtypes according to the neuropathologic findings (see PATHOGENESIS below).\n\n<Subhead> Clinical Variability of Tauopathies\n\nTauopathies comprise a clinically variable group of neurodegenerative diseases characterized neuropathologically by accumulation of abnormal MAPT-positive inclusions in nerve and/or glial cells. In addition to frontotemporal dementia, semantic dementia, and PPA, different clinical syndromes with overlapping features have been described, leading to confusion in the terminology ({47:Tolnay and Probst, 2002}). Other terms used historically include parkinsonism and dementia with pallidopontonigral degeneration (PPND) ({56:Wszolek et al., 1992}); disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC) ({29:Lynch et al., 1994}); frontotemporal dementia with parkinsonism (FLDEM) ({57:Yamaoka et al., 1996}); and multiple system tauopathy with presenile dementia (MSTD) ({46:Spillantini et al., 1997}). These disorders are characterized by variable degrees of frontal lobe dementia, parkinsonism, motor neuron disease, and amyotrophy.\n\nOther neurodegenerative associated with mutations in the MAPT gene include Pick disease (OMIM:172700) and progressive supranuclear palsy (PSP; OMIM:601104),\n\nInherited neurodegenerative tauopathies linked to chromosome 17 and caused by mutation in the MAPT gene have also been collectively termed 'FTDP17' ({28:Lee et al., 2001}).\n\n{25:Kertesz (2003)} suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), PSP, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies.\n\n<Subhead> Genetic Heterogeneity of Frontotemporal Lobar Degeneration\n\nMutations in several different genes can cause frontotemporal dementia and frontotemporal lobar degeneration, with or without motor neuron disease. See FTLD with TDP43 inclusions (OMIM:607485), caused by mutation in the GRN gene (OMIM:138945) on chromosome 17q21; FTLD mapping to chromosome 3 (OMIM:600795), caused by mutation in the CHMP2B gene (OMIM:609512); inclusion body myopathy with Paget disease and FTD (IBMPFD; OMIM:167320), caused by mutation in the VCP gene (OMIM:601023) on chromosome 9p13; ALS6 (OMIM:608030), caused by mutation in the FUS gene (OMIM:137070) on 16p11; ALS10 (OMIM:612069), caused by mutation in the TARDBP gene (OMIM:605078) on 1p36; and FTDALS (OMIM:105550), caused by mutation in the C9ORF72 gene (OMIM:614260) on 9p.\n\nIn 1 family with FTD, a mutation was identified in the presenilin-1 gene (PSEN1; OMIM:104311) on chromosome 14, which is usually associated with a familial form of early-onset Alzheimer disease (AD3; OMIM:607822)."], "equivalent_curie_std": ["Orphanet:293848", "UMLS:CN203142", "UMLS:C4274349", "UMLS:C0338451"], "category": ["disease"]}, {"synonym": ["Tyrosine hydroxylase-deficient dopa-responsive dystonia", "Autosomal Recessive Infantile Parkinsonism", "Dopa-Responsive Dystonia, Autosomal Recessive", "DOPA responsive dystonia, autosomal recessive", "DYT5b", "Parkinsonism, Infantile, Autosomal Recessive", "Th-Deficient Drd", "Autosomal recessive Segawa syndrome", "Dystonia, Dopa-Responsive, Autosomal Recessive", "Tyrosine Hydroxylase Deficiency", "SEGAWA SYNDROME, AUTOSOMAL RECESSIVE", "Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive", "Dystonia, DOPA responsive, autosomal recessive", "Parkinsonism, infantile, autosomal recessive", "Tyrosine hydroxylase deficiency"], "equivalent_curie_eng": ["Orphanet:101150", "UMLS:C2673535", "UMLS:C1854299", "MESH:C537537"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:605407", "iri": "http://purl.obolibrary.org/obo/OMIM_605407", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_101150", "http://purl.obolibrary.org/obo/UMLS_C2673535", "http://purl.obolibrary.org/obo/UMLS_C1854299", "http://purl.obolibrary.org/obo/MESH_C537537"], "label_eng": ["Segawa Syndrome, Autosomal Recessive", "Segawa syndrome, autosomal recessive", "Autosomal recessive dopa-responsive dystonia"], "definition_std": ["Segawa syndrome is an autosomal recessive neurologic disorder characterized by onset in infancy of dopa-responsive dystonia. There are 2 main phenotypes: one is a severe complex encephalopathy apparent in the perinatal period, with diurnal fluctuations and autonomic disturbances, and the other shows a less severe course with onset in the first year of life of a progressive hypokinetic-rigid syndrome and generalized dystonia. The less severe type shows a better response to levodopa compared to the more severe type (summary by {10:Stamelou et al., 2012}).\n\nSee also infantile parkinsonism-dystonia syndrome (OMIM:613135), caused by mutation in the SLC6A3 gene (OMIM:126455).", "Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy."], "id_eng": "OMIM:605407", "definition_kw": ["Segawa syndrome is an autosomal recessive neurologic disorder characterized by onset in infancy of dopa-responsive dystonia. There are 2 main phenotypes: one is a severe complex encephalopathy apparent in the perinatal period, with diurnal fluctuations and autonomic disturbances, and the other shows a less severe course with onset in the first year of life of a progressive hypokinetic-rigid syndrome and generalized dystonia. The less severe type shows a better response to levodopa compared to the more severe type (summary by {10:Stamelou et al., 2012}).\n\nSee also infantile parkinsonism-dystonia syndrome (OMIM:613135), caused by mutation in the SLC6A3 gene (OMIM:126455).", "Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_101150", "http://purl.obolibrary.org/obo/UMLS_C2673535", "http://purl.obolibrary.org/obo/UMLS_C1854299", "http://purl.obolibrary.org/obo/MESH_C537537"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_605407", "label_std": ["Segawa Syndrome, Autosomal Recessive", "Segawa syndrome, autosomal recessive", "Autosomal recessive dopa-responsive dystonia"], "equivalent_curie": ["Orphanet:101150", "UMLS:C2673535", "UMLS:C1854299", "MESH:C537537"], "equivalent_curie_kw": ["Orphanet:101150", "UMLS:C2673535", "UMLS:C1854299", "MESH:C537537"], "synonym_eng": ["Tyrosine hydroxylase-deficient dopa-responsive dystonia", "Autosomal Recessive Infantile Parkinsonism", "Dopa-Responsive Dystonia, Autosomal Recessive", "DOPA responsive dystonia, autosomal recessive", "DYT5b", "Parkinsonism, Infantile, Autosomal Recessive", "Th-Deficient Drd", "Autosomal recessive Segawa syndrome", "Dystonia, Dopa-Responsive, Autosomal Recessive", "Tyrosine Hydroxylase Deficiency", "SEGAWA SYNDROME, AUTOSOMAL RECESSIVE", "Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive", "Dystonia, DOPA responsive, autosomal recessive", "Parkinsonism, infantile, autosomal recessive", "Tyrosine hydroxylase deficiency"], "score": 22.671932, "id_kw": "OMIM:605407", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_101150", "http://purl.obolibrary.org/obo/UMLS_C2673535", "http://purl.obolibrary.org/obo/UMLS_C1854299", "http://purl.obolibrary.org/obo/MESH_C537537"], "label_kw": ["Segawa Syndrome, Autosomal Recessive", "Segawa syndrome, autosomal recessive", "Autosomal recessive dopa-responsive dystonia"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_605407", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_101150", "http://purl.obolibrary.org/obo/UMLS_C2673535", "http://purl.obolibrary.org/obo/UMLS_C1854299", "http://purl.obolibrary.org/obo/MESH_C537537"], "_version_": 1580845511821230080, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_605407", "id": "OMIM:605407", "definition": ["Segawa syndrome is an autosomal recessive neurologic disorder characterized by onset in infancy of dopa-responsive dystonia. There are 2 main phenotypes: one is a severe complex encephalopathy apparent in the perinatal period, with diurnal fluctuations and autonomic disturbances, and the other shows a less severe course with onset in the first year of life of a progressive hypokinetic-rigid syndrome and generalized dystonia. The less severe type shows a better response to levodopa compared to the more severe type (summary by {10:Stamelou et al., 2012}).\n\nSee also infantile parkinsonism-dystonia syndrome (OMIM:613135), caused by mutation in the SLC6A3 gene (OMIM:126455).", "Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy."], "synonym_kw": ["Tyrosine hydroxylase-deficient dopa-responsive dystonia", "Autosomal Recessive Infantile Parkinsonism", "Dopa-Responsive Dystonia, Autosomal Recessive", "DOPA responsive dystonia, autosomal recessive", "DYT5b", "Parkinsonism, Infantile, Autosomal Recessive", "Th-Deficient Drd", "Autosomal recessive Segawa syndrome", "Dystonia, Dopa-Responsive, Autosomal Recessive", "Tyrosine Hydroxylase Deficiency", "SEGAWA SYNDROME, AUTOSOMAL RECESSIVE", "Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive", "Dystonia, DOPA responsive, autosomal recessive", "Parkinsonism, infantile, autosomal recessive", "Tyrosine hydroxylase deficiency"], "synonym_std": ["Tyrosine hydroxylase-deficient dopa-responsive dystonia", "Autosomal Recessive Infantile Parkinsonism", "Dopa-Responsive Dystonia, Autosomal Recessive", "DOPA responsive dystonia, autosomal recessive", "DYT5b", "Parkinsonism, Infantile, Autosomal Recessive", "Th-Deficient Drd", "Autosomal recessive Segawa syndrome", "Dystonia, Dopa-Responsive, Autosomal Recessive", "Tyrosine Hydroxylase Deficiency", "SEGAWA SYNDROME, AUTOSOMAL RECESSIVE", "Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive", "Dystonia, DOPA responsive, autosomal recessive", "Parkinsonism, infantile, autosomal recessive", "Tyrosine hydroxylase deficiency"], "label": ["Segawa Syndrome, Autosomal Recessive", "Segawa syndrome, autosomal recessive", "Autosomal recessive dopa-responsive dystonia"], "definition_eng": ["Segawa syndrome is an autosomal recessive neurologic disorder characterized by onset in infancy of dopa-responsive dystonia. There are 2 main phenotypes: one is a severe complex encephalopathy apparent in the perinatal period, with diurnal fluctuations and autonomic disturbances, and the other shows a less severe course with onset in the first year of life of a progressive hypokinetic-rigid syndrome and generalized dystonia. The less severe type shows a better response to levodopa compared to the more severe type (summary by {10:Stamelou et al., 2012}).\n\nSee also infantile parkinsonism-dystonia syndrome (OMIM:613135), caused by mutation in the SLC6A3 gene (OMIM:126455).", "Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy."], "equivalent_curie_std": ["Orphanet:101150", "UMLS:C2673535", "UMLS:C1854299", "MESH:C537537"], "category": ["disease"]}, {"synonym": ["pink1-pd"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK26472", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK26472", "label_eng": ["PINK1 Type of Young-Onset Parkinson Disease "], "definition_std": ["The PINK1 type of young-onset Parkinson disease is characterized by variable combinations of rigidity, bradykinesia, and rest tremor, often making it clinically indistinguishable from idiopathic Parkinson disease. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK26472]"], "id_eng": "GeneReviews:NBK26472", "definition_kw": ["The PINK1 type of young-onset Parkinson disease is characterized by variable combinations of rigidity, bradykinesia, and rest tremor, often making it clinically indistinguishable from idiopathic Parkinson disease. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK26472]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK26472", "label_std": ["PINK1 Type of Young-Onset Parkinson Disease "], "synonym_eng": ["pink1-pd"], "score": 21.87109, "id_kw": "GeneReviews:NBK26472", "label_kw": ["PINK1 Type of Young-Onset Parkinson Disease "], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK26472", "_version_": 1580845510660456448, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK26472", "id": "GeneReviews:NBK26472", "definition": ["The PINK1 type of young-onset Parkinson disease is characterized by variable combinations of rigidity, bradykinesia, and rest tremor, often making it clinically indistinguishable from idiopathic Parkinson disease. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK26472]"], "synonym_kw": ["pink1-pd"], "synonym_std": ["pink1-pd"], "label": ["PINK1 Type of Young-Onset Parkinson Disease "], "definition_eng": ["The PINK1 type of young-onset Parkinson disease is characterized by variable combinations of rigidity, bradykinesia, and rest tremor, often making it clinically indistinguishable from idiopathic Parkinson disease. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK26472]"], "category": ["disease"]}, {"synonym": ["Dystonia type 16", "Early-onset dystonia parkinsonism", "DYT16", "dystonia type 16", "DYSTONIA 16; DYT16"], "equivalent_curie_eng": ["Orphanet:210571", "UMLS:C2677567", "DOID:0090048", "MESH:C567430"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:612067", "iri": "http://purl.obolibrary.org/obo/OMIM_612067", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_210571", "http://purl.obolibrary.org/obo/UMLS_C2677567", "http://purl.obolibrary.org/obo/DOID_0090048", "http://purl.obolibrary.org/obo/MESH_C567430"], "label_eng": ["Dystonia 16", "dystonia 16"], "definition_std": ["Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism."], "id_eng": "OMIM:612067", "definition_kw": ["Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_210571", "http://purl.obolibrary.org/obo/UMLS_C2677567", "http://purl.obolibrary.org/obo/DOID_0090048", "http://purl.obolibrary.org/obo/MESH_C567430"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_612067", "label_std": ["Dystonia 16", "dystonia 16"], "equivalent_curie": ["Orphanet:210571", "UMLS:C2677567", "DOID:0090048", "MESH:C567430"], "equivalent_curie_kw": ["Orphanet:210571", "UMLS:C2677567", "DOID:0090048", "MESH:C567430"], "synonym_eng": ["Dystonia type 16", "Early-onset dystonia parkinsonism", "DYT16", "dystonia type 16", "DYSTONIA 16; DYT16"], "score": 21.846786, "id_kw": "OMIM:612067", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_210571", "http://purl.obolibrary.org/obo/UMLS_C2677567", "http://purl.obolibrary.org/obo/DOID_0090048", "http://purl.obolibrary.org/obo/MESH_C567430"], "label_kw": ["Dystonia 16", "dystonia 16"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_612067", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_210571", "http://purl.obolibrary.org/obo/UMLS_C2677567", "http://purl.obolibrary.org/obo/DOID_0090048", "http://purl.obolibrary.org/obo/MESH_C567430"], "_version_": 1580845544730787840, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_612067", "id": "OMIM:612067", "definition": ["Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism."], "synonym_kw": ["Dystonia type 16", "Early-onset dystonia parkinsonism", "DYT16", "dystonia type 16", "DYSTONIA 16; DYT16"], "synonym_std": ["Dystonia type 16", "Early-onset dystonia parkinsonism", "DYT16", "dystonia type 16", "DYSTONIA 16; DYT16"], "label": ["Dystonia 16", "dystonia 16"], "definition_eng": ["Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism."], "equivalent_curie_std": ["Orphanet:210571", "UMLS:C2677567", "DOID:0090048", "MESH:C567430"], "category": ["disease"]}, {"synonym": ["parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "PARK2", "E3 ubiquitin-protein ligase parkin"], "taxon_kw": "NCBITaxon:13616", "leaf": true, "category_std": ["gene"], "id_std": "NCBIGene:100032502", "iri": "http://www.ncbi.nlm.nih.gov/gene/100032502", "taxon_label_synonym_eng": ["gray short-tailed opossum", "Monodelphis domesticus"], "taxon_label_synonym_kw": ["gray short-tailed opossum", "Monodelphis domesticus"], "label_eng": ["PRKN"], "id_eng": "NCBIGene:100032502", "taxon_label_synonym_std": ["gray short-tailed opossum", "Monodelphis domesticus"], "taxon_std": "NCBITaxon:13616", "category_kw": ["gene"], "taxon_label_synonym": ["gray short-tailed opossum", "Monodelphis domesticus"], "taxon_label_std": "Monodelphis domestica", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/100032502", "label_std": ["PRKN"], "taxon_label_kw": "Monodelphis domestica", "synonym_eng": ["parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "PARK2", "E3 ubiquitin-protein ligase parkin"], "taxon_label_eng": "Monodelphis domestica", "taxon": "NCBITaxon:13616", "taxon_label": "Monodelphis domestica", "id_kw": "NCBIGene:100032502", "label_kw": ["PRKN"], "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/100032502", "taxon_eng": "NCBITaxon:13616", "_version_": 1580845628635742211, "category_eng": ["gene"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/100032502", "id": "NCBIGene:100032502", "synonym_kw": ["parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "PARK2", "E3 ubiquitin-protein ligase parkin"], "synonym_std": ["parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "PARK2", "E3 ubiquitin-protein ligase parkin"], "label": ["PRKN"], "score": 21.846786, "category": ["gene"]}, {"synonym": ["parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "PARK2", "E3 ubiquitin-protein ligase parkin"], "taxon_kw": "NCBITaxon:9685", "leaf": true, "category_std": ["gene"], "id_std": "NCBIGene:101098228", "iri": "http://www.ncbi.nlm.nih.gov/gene/101098228", "taxon_label_synonym_eng": ["cats", "cat", "domestic cat", "Felis silvestris catus", "Felis domesticus"], "taxon_label_synonym_kw": ["cats", "cat", "domestic cat", "Felis silvestris catus", "Felis domesticus"], "label_eng": ["PRKN"], "id_eng": "NCBIGene:101098228", "taxon_label_synonym_std": ["cats", "cat", "domestic cat", "Felis silvestris catus", "Felis domesticus"], "taxon_std": "NCBITaxon:9685", "category_kw": ["gene"], "taxon_label_synonym": ["cats", "cat", "domestic cat", "Felis silvestris catus", "Felis domesticus"], "taxon_label_std": "Felis catus", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/101098228", "label_std": ["PRKN"], "taxon_label_kw": "Felis catus", "synonym_eng": ["parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "PARK2", "E3 ubiquitin-protein ligase parkin"], "taxon_label_eng": "Felis catus", "taxon": "NCBITaxon:9685", "taxon_label": "Felis catus", "id_kw": "NCBIGene:101098228", "label_kw": ["PRKN"], "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/101098228", "taxon_eng": "NCBITaxon:9685", "_version_": 1580845794079014912, "category_eng": ["gene"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/101098228", "id": "NCBIGene:101098228", "synonym_kw": ["parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "PARK2", "E3 ubiquitin-protein ligase parkin"], "synonym_std": ["parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "PARK2", "E3 ubiquitin-protein ligase parkin"], "label": ["PRKN"], "score": 21.846786, "category": ["gene"]}, {"synonym": ["park2", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "E3 ubiquitin-protein ligase parkin"], "taxon_kw": "NCBITaxon:28377", "leaf": true, "category_std": ["gene"], "id_std": "NCBIGene:100559435", "iri": "http://www.ncbi.nlm.nih.gov/gene/100559435", "taxon_label_synonym_eng": ["Carolina anole", "green anole"], "taxon_label_synonym_kw": ["Carolina anole", "green anole"], "label_eng": ["prkn"], "id_eng": "NCBIGene:100559435", "taxon_label_synonym_std": ["Carolina anole", "green anole"], "taxon_std": "NCBITaxon:28377", "category_kw": ["gene"], "taxon_label_synonym": ["Carolina anole", "green anole"], "taxon_label_std": "Anolis carolinensis", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/100559435", "label_std": ["prkn"], "taxon_label_kw": "Anolis carolinensis", "synonym_eng": ["park2", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "E3 ubiquitin-protein ligase parkin"], "taxon_label_eng": "Anolis carolinensis", "taxon": "NCBITaxon:28377", "taxon_label": "Anolis carolinensis", "id_kw": "NCBIGene:100559435", "label_kw": ["prkn"], "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/100559435", "taxon_eng": "NCBITaxon:28377", "_version_": 1580845672739897346, "category_eng": ["gene"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/100559435", "id": "NCBIGene:100559435", "synonym_kw": ["park2", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "E3 ubiquitin-protein ligase parkin"], "synonym_std": ["park2", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "E3 ubiquitin-protein ligase parkin"], "label": ["prkn"], "score": 21.846786, "category": ["gene"]}, {"synonym": ["X-linked recessive basal ganglia disorder with mental retardation", "Wsn", "WAISMAN SYNDROME; WSMN", "Basal Ganglion Disorder With Mental Retardation", "WSMN", "Laxova Brown Hogan syndrome", "Laxova-Opitz syndrome", "Basal ganglia disorder with mental retardation", "Parkinsonism, Early-Onset, With Mental Retardation", "Waisman syndrome"], "equivalent_curie_eng": ["Orphanet:2379", "UMLS:C0796195", "MESH:C537179"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:311510", "iri": "http://purl.obolibrary.org/obo/OMIM_311510", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_2379", "http://purl.obolibrary.org/obo/UMLS_C0796195", "http://purl.obolibrary.org/obo/MESH_C537179"], "label_eng": ["Early-onset parkinsonism-intellectual disability syndrome", "Parkinsonism, early onset with mental retardation", "Waisman Syndrome"], "definition_std": ["Waisman syndrome is an X-linked neurologic disorder characterized by delayed psychomotor development, intellectual disability, and early-onset Parkinson disease (summary by {4:Wilson et al., 2014}).", "Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter."], "id_eng": "OMIM:311510", "definition_kw": ["Waisman syndrome is an X-linked neurologic disorder characterized by delayed psychomotor development, intellectual disability, and early-onset Parkinson disease (summary by {4:Wilson et al., 2014}).", "Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_2379", "http://purl.obolibrary.org/obo/UMLS_C0796195", "http://purl.obolibrary.org/obo/MESH_C537179"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_311510", "label_std": ["Early-onset parkinsonism-intellectual disability syndrome", "Parkinsonism, early onset with mental retardation", "Waisman Syndrome"], "equivalent_curie": ["Orphanet:2379", "UMLS:C0796195", "MESH:C537179"], "equivalent_curie_kw": ["Orphanet:2379", "UMLS:C0796195", "MESH:C537179"], "synonym_eng": ["X-linked recessive basal ganglia disorder with mental retardation", "Wsn", "WAISMAN SYNDROME; WSMN", "Basal Ganglion Disorder With Mental Retardation", "WSMN", "Laxova Brown Hogan syndrome", "Laxova-Opitz syndrome", "Basal ganglia disorder with mental retardation", "Parkinsonism, Early-Onset, With Mental Retardation", "Waisman syndrome"], "score": 21.633715, "id_kw": "OMIM:311510", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_2379", "http://purl.obolibrary.org/obo/UMLS_C0796195", "http://purl.obolibrary.org/obo/MESH_C537179"], "label_kw": ["Early-onset parkinsonism-intellectual disability syndrome", "Parkinsonism, early onset with mental retardation", "Waisman Syndrome"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_311510", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_2379", "http://purl.obolibrary.org/obo/UMLS_C0796195", "http://purl.obolibrary.org/obo/MESH_C537179"], "_version_": 1580845543653900290, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_311510", "id": "OMIM:311510", "definition": ["Waisman syndrome is an X-linked neurologic disorder characterized by delayed psychomotor development, intellectual disability, and early-onset Parkinson disease (summary by {4:Wilson et al., 2014}).", "Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter."], "synonym_kw": ["X-linked recessive basal ganglia disorder with mental retardation", "Wsn", "WAISMAN SYNDROME; WSMN", "Basal Ganglion Disorder With Mental Retardation", "WSMN", "Laxova Brown Hogan syndrome", "Laxova-Opitz syndrome", "Basal ganglia disorder with mental retardation", "Parkinsonism, Early-Onset, With Mental Retardation", "Waisman syndrome"], "synonym_std": ["X-linked recessive basal ganglia disorder with mental retardation", "Wsn", "WAISMAN SYNDROME; WSMN", "Basal Ganglion Disorder With Mental Retardation", "WSMN", "Laxova Brown Hogan syndrome", "Laxova-Opitz syndrome", "Basal ganglia disorder with mental retardation", "Parkinsonism, Early-Onset, With Mental Retardation", "Waisman syndrome"], "label": ["Early-onset parkinsonism-intellectual disability syndrome", "Parkinsonism, early onset with mental retardation", "Waisman Syndrome"], "definition_eng": ["Waisman syndrome is an X-linked neurologic disorder characterized by delayed psychomotor development, intellectual disability, and early-onset Parkinson disease (summary by {4:Wilson et al., 2014}).", "Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter."], "equivalent_curie_std": ["Orphanet:2379", "UMLS:C0796195", "MESH:C537179"], "category": ["disease"]}, {"synonym": ["jpd"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK1478", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK1478", "label_eng": ["Parkin Type of Early-Onset Parkinson Disease"], "definition_std": ["Parkin type of early-onset Parkinson disease is characterized by rigidity, bradykinesia, and resting tremor. Lower-limb dystonia may be a presenting sign. Onset usually occurs between ages 20 and 40 years with an average age of onset in the early to mid-thirties. The disease is slowly progressive and disease duration of more than 50 years has been reported. Clinical signs vary; hyperreflexia is common. Dyskinesia as a result of treatment with levodopa frequently occurs.  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1478]"], "id_eng": "GeneReviews:NBK1478", "definition_kw": ["Parkin type of early-onset Parkinson disease is characterized by rigidity, bradykinesia, and resting tremor. Lower-limb dystonia may be a presenting sign. Onset usually occurs between ages 20 and 40 years with an average age of onset in the early to mid-thirties. The disease is slowly progressive and disease duration of more than 50 years has been reported. Clinical signs vary; hyperreflexia is common. Dyskinesia as a result of treatment with levodopa frequently occurs.  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1478]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK1478", "label_std": ["Parkin Type of Early-Onset Parkinson Disease"], "synonym_eng": ["jpd"], "score": 21.07028, "id_kw": "GeneReviews:NBK1478", "label_kw": ["Parkin Type of Early-Onset Parkinson Disease"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK1478", "_version_": 1580845509862490112, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK1478", "id": "GeneReviews:NBK1478", "definition": ["Parkin type of early-onset Parkinson disease is characterized by rigidity, bradykinesia, and resting tremor. Lower-limb dystonia may be a presenting sign. Onset usually occurs between ages 20 and 40 years with an average age of onset in the early to mid-thirties. The disease is slowly progressive and disease duration of more than 50 years has been reported. Clinical signs vary; hyperreflexia is common. Dyskinesia as a result of treatment with levodopa frequently occurs.  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1478]"], "synonym_kw": ["jpd"], "synonym_std": ["jpd"], "label": ["Parkin Type of Early-Onset Parkinson Disease"], "definition_eng": ["Parkin type of early-onset Parkinson disease is characterized by rigidity, bradykinesia, and resting tremor. Lower-limb dystonia may be a presenting sign. Onset usually occurs between ages 20 and 40 years with an average age of onset in the early to mid-thirties. The disease is slowly progressive and disease duration of more than 50 years has been reported. Clinical signs vary; hyperreflexia is common. Dyskinesia as a result of treatment with levodopa frequently occurs.  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1478]"], "category": ["disease"]}, {"label_std": ["Wolff-Parkinson-White (WPW) syndrome; Preexcitation syndrome"], "label_kw": ["Wolff-Parkinson-White (WPW) syndrome; Preexcitation syndrome"], "leaf": true, "category_std": ["disease"], "id_std": "KEGG-ds:H01154", "iri": "http://purl.obolibrary.org/KEGG-ds_H01154", "iri_eng": "http://purl.obolibrary.org/KEGG-ds_H01154", "label_eng": ["Wolff-Parkinson-White (WPW) syndrome; Preexcitation syndrome"], "iri_kw": "http://purl.obolibrary.org/KEGG-ds_H01154", "id_eng": "KEGG-ds:H01154", "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/KEGG-ds_H01154", "id": "KEGG-ds:H01154", "category_kw": ["disease"], "label": ["Wolff-Parkinson-White (WPW) syndrome; Preexcitation syndrome"], "score": 21.07028, "_version_": 1580845543382319109, "id_kw": "KEGG-ds:H01154", "category": ["disease"]}, {"synonym": ["Park4"], "leaf": true, "category_std": ["disease"], "id_std": "MESH:C565324", "iri": "http://purl.obolibrary.org/obo/MESH_C565324", "label_eng": ["Parkinson Disease 4, Autosomal Dominant Lewy Body"], "id_eng": "MESH:C565324", "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/MESH_C565324", "label_std": ["Parkinson Disease 4, Autosomal Dominant Lewy Body"], "synonym_eng": ["Park4"], "score": 21.07028, "id_kw": "MESH:C565324", "label_kw": ["Parkinson Disease 4, Autosomal Dominant Lewy Body"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_C565324", "_version_": 1580845611527176193, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/MESH_C565324", "id": "MESH:C565324", "synonym_kw": ["Park4"], "synonym_std": ["Park4"], "label": ["Parkinson Disease 4, Autosomal Dominant Lewy Body"], "category": ["disease"]}, {"label_std": ["Rare parkinsonian syndrome due to genetic neurodegenerative disease"], "label_kw": ["Rare parkinsonian syndrome due to genetic neurodegenerative disease"], "leaf": false, "category_std": ["disease"], "id_std": "Orphanet:307055", "iri": "http://www.orpha.net/ORDO/Orphanet_307055", "iri_eng": "http://www.orpha.net/ORDO/Orphanet_307055", "label_eng": ["Rare parkinsonian syndrome due to genetic neurodegenerative disease"], "iri_kw": "http://www.orpha.net/ORDO/Orphanet_307055", "id_eng": "Orphanet:307055", "category_eng": ["disease"], "iri_std": "http://www.orpha.net/ORDO/Orphanet_307055", "id": "Orphanet:307055", "category_kw": ["disease"], "label": ["Rare parkinsonian syndrome due to genetic neurodegenerative disease"], "score": 21.07028, "_version_": 1580845612729892864, "id_kw": "Orphanet:307055", "category": ["disease"]}, {"equivalent_curie_eng": ["UMLS:CN203530", "UMLS:CN203548"], "leaf": false, "category_std": ["disease"], "id_std": "Orphanet:306666", "iri": "http://www.orpha.net/ORDO/Orphanet_306666", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_CN203530", "http://purl.obolibrary.org/obo/UMLS_CN203548"], "label_eng": ["Rare parkinsonian syndrome due to neurodegenerative disease"], "equivalent_curie_std": ["UMLS:CN203530", "UMLS:CN203548"], "id_eng": "Orphanet:306666", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_CN203530", "http://purl.obolibrary.org/obo/UMLS_CN203548"], "category_kw": ["disease"], "iri_eng": "http://www.orpha.net/ORDO/Orphanet_306666", "label_std": ["Rare parkinsonian syndrome due to neurodegenerative disease"], "equivalent_curie": ["UMLS:CN203530", "UMLS:CN203548"], "equivalent_curie_kw": ["UMLS:CN203530", "UMLS:CN203548"], "score": 21.07028, "id_kw": "Orphanet:306666", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_CN203530", "http://purl.obolibrary.org/obo/UMLS_CN203548"], "label_kw": ["Rare parkinsonian syndrome due to neurodegenerative disease"], "iri_kw": "http://www.orpha.net/ORDO/Orphanet_306666", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_CN203530", "http://purl.obolibrary.org/obo/UMLS_CN203548"], "_version_": 1580845617058414595, "category_eng": ["disease"], "iri_std": "http://www.orpha.net/ORDO/Orphanet_306666", "id": "Orphanet:306666", "label": ["Rare parkinsonian syndrome due to neurodegenerative disease"], "category": ["disease"]}, {"synonym": ["Amyotrophic Lateral Sclerosis, Guam Form", "Lou Gehrig disease", "ALS (Amyotrophic Lateral Sclerosis)", "Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex 1", "ALS", "Guam Disease", "Gehrig's Disease", "Dementia With Amyotrophic Lateral Sclerosis", "Lou-Gehrigs Disease", "Amyotrophic Lateral Sclerosis Parkinsonism Dementia Complex 1", "Gehrigs Disease", "Disease, Guam", "Amyotrophic Lateral Sclerosis, Parkinsonism Dementia Complex of Guam", "Sclerosis, Amyotrophic Lateral", "Guam Form of Amyotrophic Lateral Sclerosis", "Disease, Lou-Gehrigs", "Amyotrophic Lateral Sclerosis, Parkinsonism-Dementia Complex of Guam", "Motor Neuron Disease, Amyotrophic Lateral Sclerosis", "Charcot Disease", "Lou Gehrig's Disease", "Charcot disease", "Amyotrophic Lateral Sclerosis With Dementia", "Lou Gehrig Disease", "Lou Gehrig's disease", "motor neuron disease, bulbar", "Gehrig Disease"], "equivalent_curie_eng": ["Orphanet:803", "UMLS:C0002736", "MESH:D000690"], "leaf": false, "category_std": ["disease"], "id_std": "DOID:332", "iri": "http://purl.obolibrary.org/obo/DOID_332", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_803", "http://purl.obolibrary.org/obo/UMLS_C0002736", "http://purl.obolibrary.org/obo/MESH_D000690"], "label_eng": ["amyotrophic lateral sclerosis"], "definition_std": ["Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord."], "id_eng": "DOID:332", "definition_kw": ["Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_803", "http://purl.obolibrary.org/obo/UMLS_C0002736", "http://purl.obolibrary.org/obo/MESH_D000690"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/DOID_332", "label_std": ["amyotrophic lateral sclerosis"], "equivalent_curie": ["Orphanet:803", "UMLS:C0002736", "MESH:D000690"], "equivalent_curie_kw": ["Orphanet:803", "UMLS:C0002736", "MESH:D000690"], "synonym_eng": ["Amyotrophic Lateral Sclerosis, Guam Form", "Lou Gehrig disease", "ALS (Amyotrophic Lateral Sclerosis)", "Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex 1", "ALS", "Guam Disease", "Gehrig's Disease", "Dementia With Amyotrophic Lateral Sclerosis", "Lou-Gehrigs Disease", "Amyotrophic Lateral Sclerosis Parkinsonism Dementia Complex 1", "Gehrigs Disease", "Disease, Guam", "Amyotrophic Lateral Sclerosis, Parkinsonism Dementia Complex of Guam", "Sclerosis, Amyotrophic Lateral", "Guam Form of Amyotrophic Lateral Sclerosis", "Disease, Lou-Gehrigs", "Amyotrophic Lateral Sclerosis, Parkinsonism-Dementia Complex of Guam", "Motor Neuron Disease, Amyotrophic Lateral Sclerosis", "Charcot Disease", "Lou Gehrig's Disease", "Charcot disease", "Amyotrophic Lateral Sclerosis With Dementia", "Lou Gehrig Disease", "Lou Gehrig's disease", "motor neuron disease, bulbar", "Gehrig Disease"], "score": 20.68513, "id_kw": "DOID:332", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_803", "http://purl.obolibrary.org/obo/UMLS_C0002736", "http://purl.obolibrary.org/obo/MESH_D000690"], "label_kw": ["amyotrophic lateral sclerosis"], "iri_kw": "http://purl.obolibrary.org/obo/DOID_332", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_803", "http://purl.obolibrary.org/obo/UMLS_C0002736", "http://purl.obolibrary.org/obo/MESH_D000690"], "_version_": 1580845584138371075, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/DOID_332", "id": "DOID:332", "definition": ["Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord."], "synonym_kw": ["Amyotrophic Lateral Sclerosis, Guam Form", "Lou Gehrig disease", "ALS (Amyotrophic Lateral Sclerosis)", "Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex 1", "ALS", "Guam Disease", "Gehrig's Disease", "Dementia With Amyotrophic Lateral Sclerosis", "Lou-Gehrigs Disease", "Amyotrophic Lateral Sclerosis Parkinsonism Dementia Complex 1", "Gehrigs Disease", "Disease, Guam", "Amyotrophic Lateral Sclerosis, Parkinsonism Dementia Complex of Guam", "Sclerosis, Amyotrophic Lateral", "Guam Form of Amyotrophic Lateral Sclerosis", "Disease, Lou-Gehrigs", "Amyotrophic Lateral Sclerosis, Parkinsonism-Dementia Complex of Guam", "Motor Neuron Disease, Amyotrophic Lateral Sclerosis", "Charcot Disease", "Lou Gehrig's Disease", "Charcot disease", "Amyotrophic Lateral Sclerosis With Dementia", "Lou Gehrig Disease", "Lou Gehrig's disease", "motor neuron disease, bulbar", "Gehrig Disease"], "synonym_std": ["Amyotrophic Lateral Sclerosis, Guam Form", "Lou Gehrig disease", "ALS (Amyotrophic Lateral Sclerosis)", "Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex 1", "ALS", "Guam Disease", "Gehrig's Disease", "Dementia With Amyotrophic Lateral Sclerosis", "Lou-Gehrigs Disease", "Amyotrophic Lateral Sclerosis Parkinsonism Dementia Complex 1", "Gehrigs Disease", "Disease, Guam", "Amyotrophic Lateral Sclerosis, Parkinsonism Dementia Complex of Guam", "Sclerosis, Amyotrophic Lateral", "Guam Form of Amyotrophic Lateral Sclerosis", "Disease, Lou-Gehrigs", "Amyotrophic Lateral Sclerosis, Parkinsonism-Dementia Complex of Guam", "Motor Neuron Disease, Amyotrophic Lateral Sclerosis", "Charcot Disease", "Lou Gehrig's Disease", "Charcot disease", "Amyotrophic Lateral Sclerosis With Dementia", "Lou Gehrig Disease", "Lou Gehrig's disease", "motor neuron disease, bulbar", "Gehrig Disease"], "label": ["amyotrophic lateral sclerosis"], "definition_eng": ["Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord."], "equivalent_curie_std": ["Orphanet:803", "UMLS:C0002736", "MESH:D000690"], "category": ["disease"]}, {"synonym": ["perry"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK47027", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK47027", "label_eng": ["Perry Syndrome"], "definition_std": ["Perry syndrome is characterized by parkinsonism, hypoventilation, depression, and weight loss. The mean age at onset is 48 years; the mean disease duration is five years. Parkinsonism and psychiatric changes (depression, apathy, character changes, and withdrawal) tend to occur early; severe weight loss and hypoventilation manifest later. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK47027]"], "id_eng": "GeneReviews:NBK47027", "definition_kw": ["Perry syndrome is characterized by parkinsonism, hypoventilation, depression, and weight loss. The mean age at onset is 48 years; the mean disease duration is five years. Parkinsonism and psychiatric changes (depression, apathy, character changes, and withdrawal) tend to occur early; severe weight loss and hypoventilation manifest later. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK47027]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK47027", "label_std": ["Perry Syndrome"], "synonym_eng": ["perry"], "score": 19.475853, "id_kw": "GeneReviews:NBK47027", "label_kw": ["Perry Syndrome"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK47027", "_version_": 1580845511306379264, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK47027", "id": "GeneReviews:NBK47027", "definition": ["Perry syndrome is characterized by parkinsonism, hypoventilation, depression, and weight loss. The mean age at onset is 48 years; the mean disease duration is five years. Parkinsonism and psychiatric changes (depression, apathy, character changes, and withdrawal) tend to occur early; severe weight loss and hypoventilation manifest later. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK47027]"], "synonym_kw": ["perry"], "synonym_std": ["perry"], "label": ["Perry Syndrome"], "definition_eng": ["Perry syndrome is characterized by parkinsonism, hypoventilation, depression, and weight loss. The mean age at onset is 48 years; the mean disease duration is five years. Parkinsonism and psychiatric changes (depression, apathy, character changes, and withdrawal) tend to occur early; severe weight loss and hypoventilation manifest later. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK47027]"], "category": ["disease"]}, {"synonym": ["Hypermanganesemia With Dystonia, Polycythemia, And Cirrhosis", "Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia", "HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS; HMDPC", "Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease", "HMDPC", "HMNDYT1", "Hmdpc", "HYPERMANGANESEMIA WITH DYSTONIA 1; HMNDYT1", "Hepatic Cirrhosis, Dystonia, Polycythaemia, and Hypermanganesaemia", "Dystonia-Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease", "Hypermanganesemia With Dystonia, Polycythemia, and Cirrhosis"], "equivalent_curie_eng": ["Orphanet:309854", "UMLS:C2750442", "MESH:C548016"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:613280", "iri": "http://purl.obolibrary.org/obo/OMIM_613280", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_309854", "http://purl.obolibrary.org/obo/UMLS_C2750442", "http://purl.obolibrary.org/obo/MESH_C548016"], "label_eng": ["Hypermanganesemia With Dystonia 1", "Hypermanganesemia with dystonia 1", "Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome"], "definition_std": ["See http://www.omim.org/entry/613280", "Hypermanganesemia with dystonia-1 is an autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved (summary by {6:Tuschl et al., 2012} and {4:Quadri et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Hypermanganesemia With Dystonia\n\nSee also HMNDYT2 (OMIM:617013), caused by mutation in the SLC39A14 gene (OMIM:608736) on chromosome 8p21."], "id_eng": "OMIM:613280", "definition_kw": ["See http://www.omim.org/entry/613280", "Hypermanganesemia with dystonia-1 is an autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved (summary by {6:Tuschl et al., 2012} and {4:Quadri et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Hypermanganesemia With Dystonia\n\nSee also HMNDYT2 (OMIM:617013), caused by mutation in the SLC39A14 gene (OMIM:608736) on chromosome 8p21."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_309854", "http://purl.obolibrary.org/obo/UMLS_C2750442", "http://purl.obolibrary.org/obo/MESH_C548016"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_613280", "label_std": ["Hypermanganesemia With Dystonia 1", "Hypermanganesemia with dystonia 1", "Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome"], "equivalent_curie": ["Orphanet:309854", "UMLS:C2750442", "MESH:C548016"], "equivalent_curie_kw": ["Orphanet:309854", "UMLS:C2750442", "MESH:C548016"], "synonym_eng": ["Hypermanganesemia With Dystonia, Polycythemia, And Cirrhosis", "Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia", "HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS; HMDPC", "Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease", "HMDPC", "HMNDYT1", "Hmdpc", "HYPERMANGANESEMIA WITH DYSTONIA 1; HMNDYT1", "Hepatic Cirrhosis, Dystonia, Polycythaemia, and Hypermanganesaemia", "Dystonia-Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease", "Hypermanganesemia With Dystonia, Polycythemia, and Cirrhosis"], "score": 18.939287, "id_kw": "OMIM:613280", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_309854", "http://purl.obolibrary.org/obo/UMLS_C2750442", "http://purl.obolibrary.org/obo/MESH_C548016"], "label_kw": ["Hypermanganesemia With Dystonia 1", "Hypermanganesemia with dystonia 1", "Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_613280", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_309854", "http://purl.obolibrary.org/obo/UMLS_C2750442", "http://purl.obolibrary.org/obo/MESH_C548016"], "_version_": 1580845510532530176, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_613280", "id": "OMIM:613280", "definition": ["See http://www.omim.org/entry/613280", "Hypermanganesemia with dystonia-1 is an autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved (summary by {6:Tuschl et al., 2012} and {4:Quadri et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Hypermanganesemia With Dystonia\n\nSee also HMNDYT2 (OMIM:617013), caused by mutation in the SLC39A14 gene (OMIM:608736) on chromosome 8p21."], "synonym_kw": ["Hypermanganesemia With Dystonia, Polycythemia, And Cirrhosis", "Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia", "HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS; HMDPC", "Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease", "HMDPC", "HMNDYT1", "Hmdpc", "HYPERMANGANESEMIA WITH DYSTONIA 1; HMNDYT1", "Hepatic Cirrhosis, Dystonia, Polycythaemia, and Hypermanganesaemia", "Dystonia-Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease", "Hypermanganesemia With Dystonia, Polycythemia, and Cirrhosis"], "synonym_std": ["Hypermanganesemia With Dystonia, Polycythemia, And Cirrhosis", "Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia", "HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS; HMDPC", "Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease", "HMDPC", "HMNDYT1", "Hmdpc", "HYPERMANGANESEMIA WITH DYSTONIA 1; HMNDYT1", "Hepatic Cirrhosis, Dystonia, Polycythaemia, and Hypermanganesaemia", "Dystonia-Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease", "Hypermanganesemia With Dystonia, Polycythemia, and Cirrhosis"], "label": ["Hypermanganesemia With Dystonia 1", "Hypermanganesemia with dystonia 1", "Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome"], "definition_eng": ["See http://www.omim.org/entry/613280", "Hypermanganesemia with dystonia-1 is an autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved (summary by {6:Tuschl et al., 2012} and {4:Quadri et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Hypermanganesemia With Dystonia\n\nSee also HMNDYT2 (OMIM:617013), caused by mutation in the SLC39A14 gene (OMIM:608736) on chromosome 8p21."], "equivalent_curie_std": ["Orphanet:309854", "UMLS:C2750442", "MESH:C548016"], "category": ["disease"]}, {"synonym": ["Monosomy 20p12.3", "Del(20)(p12.3)"], "equivalent_curie_eng": ["UMLS:CN202180"], "leaf": true, "category_std": ["disease"], "id_std": "Orphanet:261295", "iri": "http://www.orpha.net/ORDO/Orphanet_261295", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_CN202180"], "label_eng": ["20p12.3 microdeletion syndrome"], "definition_std": ["20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism."], "id_eng": "Orphanet:261295", "definition_kw": ["20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_CN202180"], "category_kw": ["disease"], "iri_eng": "http://www.orpha.net/ORDO/Orphanet_261295", "label_std": ["20p12.3 microdeletion syndrome"], "equivalent_curie": ["UMLS:CN202180"], "equivalent_curie_kw": ["UMLS:CN202180"], "synonym_eng": ["Monosomy 20p12.3", "Del(20)(p12.3)"], "score": 18.793089, "id_kw": "Orphanet:261295", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_CN202180"], "label_kw": ["20p12.3 microdeletion syndrome"], "iri_kw": "http://www.orpha.net/ORDO/Orphanet_261295", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_CN202180"], "_version_": 1580845512598224899, "category_eng": ["disease"], "iri_std": "http://www.orpha.net/ORDO/Orphanet_261295", "id": "Orphanet:261295", "definition": ["20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism."], "synonym_kw": ["Monosomy 20p12.3", "Del(20)(p12.3)"], "synonym_std": ["Monosomy 20p12.3", "Del(20)(p12.3)"], "label": ["20p12.3 microdeletion syndrome"], "definition_eng": ["20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism."], "equivalent_curie_std": ["UMLS:CN202180"], "category": ["disease"]}, {"leaf": true, "category_std": ["Phenotype"], "id_std": "MP:0008493", "iri": "http://purl.obolibrary.org/obo/MP_0008493", "label_eng": ["alpha-synuclein inclusion body"], "definition_std": ["formation of aggregates of the alpha-synuclein protein in neural and glial tissue; often seen in neurodegenerative disorders such as Parkinson's disease"], "id_eng": "MP:0008493", "definition_kw": ["formation of aggregates of the alpha-synuclein protein in neural and glial tissue; often seen in neurodegenerative disorders such as Parkinson's disease"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/MP_0008493", "label_std": ["alpha-synuclein inclusion body"], "score": 18.793089, "id_kw": "MP:0008493", "label_kw": ["alpha-synuclein inclusion body"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0008493", "_version_": 1580845584991911939, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/MP_0008493", "id": "MP:0008493", "definition": ["formation of aggregates of the alpha-synuclein protein in neural and glial tissue; often seen in neurodegenerative disorders such as Parkinson's disease"], "label": ["alpha-synuclein inclusion body"], "definition_eng": ["formation of aggregates of the alpha-synuclein protein in neural and glial tissue; often seen in neurodegenerative disorders such as Parkinson's disease"], "category": ["Phenotype"]}, {"synonym": ["Atypical PSP", "Parkinson-Dementia Syndrome", "Atypical PSP syndrome", "Supranuclear Palsy, Progressive Atypical", "Supranuclear Palsy, Progressive, 1, Atypical", "Steele-Richardson-Olszewski Syndrome, Atypical"], "equivalent_curie_eng": ["MESH:C537240", "UMLS:C1850077"], "leaf": false, "category_std": ["disease"], "id_std": "Orphanet:99750", "iri": "http://www.orpha.net/ORDO/Orphanet_99750", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/MESH_C537240", "http://purl.obolibrary.org/obo/UMLS_C1850077"], "label_eng": ["Atypical progressive supranuclear palsy syndrome"], "definition_std": ["Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)."], "id_eng": "Orphanet:99750", "definition_kw": ["Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/MESH_C537240", "http://purl.obolibrary.org/obo/UMLS_C1850077"], "category_kw": ["disease"], "iri_eng": "http://www.orpha.net/ORDO/Orphanet_99750", "label_std": ["Atypical progressive supranuclear palsy syndrome"], "equivalent_curie": ["MESH:C537240", "UMLS:C1850077"], "equivalent_curie_kw": ["MESH:C537240", "UMLS:C1850077"], "synonym_eng": ["Atypical PSP", "Parkinson-Dementia Syndrome", "Atypical PSP syndrome", "Supranuclear Palsy, Progressive Atypical", "Supranuclear Palsy, Progressive, 1, Atypical", "Steele-Richardson-Olszewski Syndrome, Atypical"], "score": 18.397142, "id_kw": "Orphanet:99750", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/MESH_C537240", "http://purl.obolibrary.org/obo/UMLS_C1850077"], "label_kw": ["Atypical progressive supranuclear palsy syndrome"], "iri_kw": "http://www.orpha.net/ORDO/Orphanet_99750", "equivalent_iri": ["http://purl.obolibrary.org/obo/MESH_C537240", "http://purl.obolibrary.org/obo/UMLS_C1850077"], "_version_": 1580845550452867076, "category_eng": ["disease"], "iri_std": "http://www.orpha.net/ORDO/Orphanet_99750", "id": "Orphanet:99750", "definition": ["Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)."], "synonym_kw": ["Atypical PSP", "Parkinson-Dementia Syndrome", "Atypical PSP syndrome", "Supranuclear Palsy, Progressive Atypical", "Supranuclear Palsy, Progressive, 1, Atypical", "Steele-Richardson-Olszewski Syndrome, Atypical"], "synonym_std": ["Atypical PSP", "Parkinson-Dementia Syndrome", "Atypical PSP syndrome", "Supranuclear Palsy, Progressive Atypical", "Supranuclear Palsy, Progressive, 1, Atypical", "Steele-Richardson-Olszewski Syndrome, Atypical"], "label": ["Atypical progressive supranuclear palsy syndrome"], "definition_eng": ["Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)."], "equivalent_curie_std": ["MESH:C537240", "UMLS:C1850077"], "category": ["disease"]}, {"synonym": ["mt-mpan"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK185329", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK185329", "label_eng": ["Mitochondrial Membrane Protein-Associated Neurodegeneration"], "definition_std": ["Mitochondrial membrane protein-associated neurodegeneration (MPAN) is characterized initially by gait changes followed by progressive spastic paresis, progressive dystonia (which may be limited to the hands and feet or more generalized), neuropsychiatric abnormalities (e.g., emotional lability, depression, anxiety, impulsivity, compulsions, hallucinations, perseveration, inattention, and hyperactivity), and cognitive decline. Additional early findings can include dysphagia, dysarthria, optic atrophy, axonal neuropathy, parkinsonism, and bowel/bladder incontinence. Survival is usually well into adulthood. End-stage disease is characterized by severe dementia, spasticity, dystonia, and parkinsonism. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK185329]"], "id_eng": "GeneReviews:NBK185329", "definition_kw": ["Mitochondrial membrane protein-associated neurodegeneration (MPAN) is characterized initially by gait changes followed by progressive spastic paresis, progressive dystonia (which may be limited to the hands and feet or more generalized), neuropsychiatric abnormalities (e.g., emotional lability, depression, anxiety, impulsivity, compulsions, hallucinations, perseveration, inattention, and hyperactivity), and cognitive decline. Additional early findings can include dysphagia, dysarthria, optic atrophy, axonal neuropathy, parkinsonism, and bowel/bladder incontinence. Survival is usually well into adulthood. End-stage disease is characterized by severe dementia, spasticity, dystonia, and parkinsonism. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK185329]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK185329", "label_std": ["Mitochondrial Membrane Protein-Associated Neurodegeneration"], "synonym_eng": ["mt-mpan"], "score": 18.367456, "id_kw": "GeneReviews:NBK185329", "label_kw": ["Mitochondrial Membrane Protein-Associated Neurodegeneration"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK185329", "_version_": 1580845510812499968, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK185329", "id": "GeneReviews:NBK185329", "definition": ["Mitochondrial membrane protein-associated neurodegeneration (MPAN) is characterized initially by gait changes followed by progressive spastic paresis, progressive dystonia (which may be limited to the hands and feet or more generalized), neuropsychiatric abnormalities (e.g., emotional lability, depression, anxiety, impulsivity, compulsions, hallucinations, perseveration, inattention, and hyperactivity), and cognitive decline. Additional early findings can include dysphagia, dysarthria, optic atrophy, axonal neuropathy, parkinsonism, and bowel/bladder incontinence. Survival is usually well into adulthood. End-stage disease is characterized by severe dementia, spasticity, dystonia, and parkinsonism. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK185329]"], "synonym_kw": ["mt-mpan"], "synonym_std": ["mt-mpan"], "label": ["Mitochondrial Membrane Protein-Associated Neurodegeneration"], "definition_eng": ["Mitochondrial membrane protein-associated neurodegeneration (MPAN) is characterized initially by gait changes followed by progressive spastic paresis, progressive dystonia (which may be limited to the hands and feet or more generalized), neuropsychiatric abnormalities (e.g., emotional lability, depression, anxiety, impulsivity, compulsions, hallucinations, perseveration, inattention, and hyperactivity), and cognitive decline. Additional early findings can include dysphagia, dysarthria, optic atrophy, axonal neuropathy, parkinsonism, and bowel/bladder incontinence. Survival is usually well into adulthood. End-stage disease is characterized by severe dementia, spasticity, dystonia, and parkinsonism. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK185329]"], "category": ["disease"]}, {"synonym": ["hmdpc"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK100241", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK100241", "label_eng": ["Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease"], "definition_std": ["The disorder dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease is characterized by the following:A movement disorder resulting from manganese accumulation in the basal ganglia Whole-blood manganese concentrations that often exceed 2000 nmol/L (normal: <320 nmol/L) Polycythemia Hepatomegaly with variable hepatic fibrosis/cirrhosis [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK100241]"], "id_eng": "GeneReviews:NBK100241", "definition_kw": ["The disorder dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease is characterized by the following:A movement disorder resulting from manganese accumulation in the basal ganglia Whole-blood manganese concentrations that often exceed 2000 nmol/L (normal: <320 nmol/L) Polycythemia Hepatomegaly with variable hepatic fibrosis/cirrhosis [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK100241]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK100241", "label_std": ["Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease"], "synonym_eng": ["hmdpc"], "score": 18.10895, "id_kw": "GeneReviews:NBK100241", "label_kw": ["Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK100241", "_version_": 1580845510452838400, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK100241", "id": "GeneReviews:NBK100241", "definition": ["The disorder dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease is characterized by the following:A movement disorder resulting from manganese accumulation in the basal ganglia Whole-blood manganese concentrations that often exceed 2000 nmol/L (normal: <320 nmol/L) Polycythemia Hepatomegaly with variable hepatic fibrosis/cirrhosis [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK100241]"], "synonym_kw": ["hmdpc"], "synonym_std": ["hmdpc"], "label": ["Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease"], "definition_eng": ["The disorder dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease is characterized by the following:A movement disorder resulting from manganese accumulation in the basal ganglia Whole-blood manganese concentrations that often exceed 2000 nmol/L (normal: <320 nmol/L) Polycythemia Hepatomegaly with variable hepatic fibrosis/cirrhosis [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK100241]"], "category": ["disease"]}, {"equivalent_curie_eng": ["UMLS:CN204508"], "leaf": true, "category_std": ["disease"], "id_std": "Orphanet:352649", "iri": "http://www.orpha.net/ORDO/Orphanet_352649", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_CN204508"], "label_eng": ["Brain dopamine-serotonin vesicular transport disease"], "definition_std": ["Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances."], "id_eng": "Orphanet:352649", "definition_kw": ["Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_CN204508"], "category_kw": ["disease"], "iri_eng": "http://www.orpha.net/ORDO/Orphanet_352649", "label_std": ["Brain dopamine-serotonin vesicular transport disease"], "equivalent_curie": ["UMLS:CN204508"], "equivalent_curie_kw": ["UMLS:CN204508"], "score": 17.986248, "id_kw": "Orphanet:352649", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_CN204508"], "label_kw": ["Brain dopamine-serotonin vesicular transport disease"], "iri_kw": "http://www.orpha.net/ORDO/Orphanet_352649", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_CN204508"], "_version_": 1580845512543698944, "category_eng": ["disease"], "iri_std": "http://www.orpha.net/ORDO/Orphanet_352649", "id": "Orphanet:352649", "definition": ["Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances."], "label": ["Brain dopamine-serotonin vesicular transport disease"], "definition_eng": ["Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances."], "equivalent_curie_std": ["UMLS:CN204508"], "category": ["disease"]}, {"leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0100595", "iri": "http://purl.obolibrary.org/obo/HP_0100595", "label_eng": ["Camptocormia"], "definition_std": ["An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders."], "id_eng": "HP:0100595", "definition_kw": ["An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0100595", "label_std": ["Camptocormia"], "score": 17.986248, "id_kw": "HP:0100595", "label_kw": ["Camptocormia"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0100595", "_version_": 1580845593807290369, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0100595", "id": "HP:0100595", "definition": ["An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders."], "label": ["Camptocormia"], "definition_eng": ["An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders."], "category": ["Phenotype"]}, {"synonym": ["Multisystemic Atrophy", "Multisystem Atrophies", "Multiple System Atrophy Syndrome", "Multiple system atrophy (disorder)", "Atrophy, Multiple System", "Multisystem atrophy", "Atrophies, Multisystem", "Atrophies, Multisystemic", "Multisystemic Atrophies", "Multisystem Atrophy", "MSA", "Atrophy, Multisystem", "Shy-Drager syndrome", "Atrophy, Multisystemic", "Multiple System Atrophies"], "equivalent_curie_eng": ["Orphanet:102", "UMLS:C0393571", "MESH:D019578"], "leaf": false, "category_std": ["disease"], "id_std": "DOID:4752", "iri": "http://purl.obolibrary.org/obo/DOID_4752", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_102", "http://purl.obolibrary.org/obo/UMLS_C0393571", "http://purl.obolibrary.org/obo/MESH_D019578"], "label_eng": ["multiple system atrophy"], "definition_std": ["Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years."], "id_eng": "DOID:4752", "definition_kw": ["Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_102", "http://purl.obolibrary.org/obo/UMLS_C0393571", "http://purl.obolibrary.org/obo/MESH_D019578"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/DOID_4752", "label_std": ["multiple system atrophy"], "equivalent_curie": ["Orphanet:102", "UMLS:C0393571", "MESH:D019578"], "equivalent_curie_kw": ["Orphanet:102", "UMLS:C0393571", "MESH:D019578"], "synonym_eng": ["Multisystemic Atrophy", "Multisystem Atrophies", "Multiple System Atrophy Syndrome", "Multiple system atrophy (disorder)", "Atrophy, Multiple System", "Multisystem atrophy", "Atrophies, Multisystem", "Atrophies, Multisystemic", "Multisystemic Atrophies", "Multisystem Atrophy", "MSA", "Atrophy, Multisystem", "Shy-Drager syndrome", "Atrophy, Multisystemic", "Multiple System Atrophies"], "score": 17.986248, "id_kw": "DOID:4752", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_102", "http://purl.obolibrary.org/obo/UMLS_C0393571", "http://purl.obolibrary.org/obo/MESH_D019578"], "label_kw": ["multiple system atrophy"], "iri_kw": "http://purl.obolibrary.org/obo/DOID_4752", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_102", "http://purl.obolibrary.org/obo/UMLS_C0393571", "http://purl.obolibrary.org/obo/MESH_D019578"], "_version_": 1580845593856573440, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/DOID_4752", "id": "DOID:4752", "definition": ["Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years."], "synonym_kw": ["Multisystemic Atrophy", "Multisystem Atrophies", "Multiple System Atrophy Syndrome", "Multiple system atrophy (disorder)", "Atrophy, Multiple System", "Multisystem atrophy", "Atrophies, Multisystem", "Atrophies, Multisystemic", "Multisystemic Atrophies", "Multisystem Atrophy", "MSA", "Atrophy, Multisystem", "Shy-Drager syndrome", "Atrophy, Multisystemic", "Multiple System Atrophies"], "synonym_std": ["Multisystemic Atrophy", "Multisystem Atrophies", "Multiple System Atrophy Syndrome", "Multiple system atrophy (disorder)", "Atrophy, Multiple System", "Multisystem atrophy", "Atrophies, Multisystem", "Atrophies, Multisystemic", "Multisystemic Atrophies", "Multisystem Atrophy", "MSA", "Atrophy, Multisystem", "Shy-Drager syndrome", "Atrophy, Multisystemic", "Multiple System Atrophies"], "label": ["multiple system atrophy"], "definition_eng": ["Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years."], "equivalent_curie_std": ["Orphanet:102", "UMLS:C0393571", "MESH:D019578"], "category": ["disease"]}, {"synonym": ["Lewy Body Dementia", "Diffuse Lewy Body Disease With Gaze Palsy", "DEMENTIA, LEWY BODY; DLB", "Lewy body disease", "Senile dementia of the Lewy body type (disorder)", "Lewy Body Variant of Alzheimer Disease", "Diffuse Lewy Body Disease", "DLB", "Diffuse Lewy body disease (disorder)", "Dementia with Lewy bodies"], "equivalent_curie_eng": ["DOID:12217"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:127750", "iri": "http://purl.obolibrary.org/obo/OMIM_127750", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/DOID_12217"], "label_eng": ["Dementia, Lewy Body", "Lewy body dementia"], "definition_std": ["A dementia and a synucleinopathy that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities.", "Dementia with Lewy bodies (DLB) is a neurodegenerative disorder clinically characterized by dementia and parkinsonism, often with fluctuating cognitive function, visual hallucinations, falls, syncopal episodes, and sensitivity to neuroleptic medication. Pathologically, Lewy bodies are present in a pattern more widespread than usually observed in Parkinson disease (see PD; OMIM:168600). Alzheimer disease (AD; OMIM:104300)-associated pathology and spongiform changes may also be seen ({19:McKeith et al., 1996}; {20:Mizutani, 2000}; {18:McKeith et al., 2005})."], "id_eng": "OMIM:127750", "definition_kw": ["A dementia and a synucleinopathy that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities.", "Dementia with Lewy bodies (DLB) is a neurodegenerative disorder clinically characterized by dementia and parkinsonism, often with fluctuating cognitive function, visual hallucinations, falls, syncopal episodes, and sensitivity to neuroleptic medication. Pathologically, Lewy bodies are present in a pattern more widespread than usually observed in Parkinson disease (see PD; OMIM:168600). Alzheimer disease (AD; OMIM:104300)-associated pathology and spongiform changes may also be seen ({19:McKeith et al., 1996}; {20:Mizutani, 2000}; {18:McKeith et al., 2005})."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/DOID_12217"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_127750", "label_std": ["Dementia, Lewy Body", "Lewy body dementia"], "equivalent_curie": ["DOID:12217"], "equivalent_curie_kw": ["DOID:12217"], "synonym_eng": ["Lewy Body Dementia", "Diffuse Lewy Body Disease With Gaze Palsy", "DEMENTIA, LEWY BODY; DLB", "Lewy body disease", "Senile dementia of the Lewy body type (disorder)", "Lewy Body Variant of Alzheimer Disease", "Diffuse Lewy Body Disease", "DLB", "Diffuse Lewy body disease (disorder)", "Dementia with Lewy bodies"], "score": 16.886732, "id_kw": "OMIM:127750", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/DOID_12217"], "label_kw": ["Dementia, Lewy Body", "Lewy body dementia"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_127750", "equivalent_iri": ["http://purl.obolibrary.org/obo/DOID_12217"], "_version_": 1580845512887631872, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_127750", "id": "OMIM:127750", "definition": ["A dementia and a synucleinopathy that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities.", "Dementia with Lewy bodies (DLB) is a neurodegenerative disorder clinically characterized by dementia and parkinsonism, often with fluctuating cognitive function, visual hallucinations, falls, syncopal episodes, and sensitivity to neuroleptic medication. Pathologically, Lewy bodies are present in a pattern more widespread than usually observed in Parkinson disease (see PD; OMIM:168600). Alzheimer disease (AD; OMIM:104300)-associated pathology and spongiform changes may also be seen ({19:McKeith et al., 1996}; {20:Mizutani, 2000}; {18:McKeith et al., 2005})."], "synonym_kw": ["Lewy Body Dementia", "Diffuse Lewy Body Disease With Gaze Palsy", "DEMENTIA, LEWY BODY; DLB", "Lewy body disease", "Senile dementia of the Lewy body type (disorder)", "Lewy Body Variant of Alzheimer Disease", "Diffuse Lewy Body Disease", "DLB", "Diffuse Lewy body disease (disorder)", "Dementia with Lewy bodies"], "synonym_std": ["Lewy Body Dementia", "Diffuse Lewy Body Disease With Gaze Palsy", "DEMENTIA, LEWY BODY; DLB", "Lewy body disease", "Senile dementia of the Lewy body type (disorder)", "Lewy Body Variant of Alzheimer Disease", "Diffuse Lewy Body Disease", "DLB", "Diffuse Lewy body disease (disorder)", "Dementia with Lewy bodies"], "label": ["Dementia, Lewy Body", "Lewy body dementia"], "definition_eng": ["A dementia and a synucleinopathy that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities.", "Dementia with Lewy bodies (DLB) is a neurodegenerative disorder clinically characterized by dementia and parkinsonism, often with fluctuating cognitive function, visual hallucinations, falls, syncopal episodes, and sensitivity to neuroleptic medication. Pathologically, Lewy bodies are present in a pattern more widespread than usually observed in Parkinson disease (see PD; OMIM:168600). Alzheimer disease (AD; OMIM:104300)-associated pathology and spongiform changes may also be seen ({19:McKeith et al., 1996}; {20:Mizutani, 2000}; {18:McKeith et al., 2005})."], "equivalent_curie_std": ["DOID:12217"], "category": ["disease"]}, {"synonym": ["NBIA6", "CoPAN", "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6; NBIA6", "Neurodegeneration with brain iron accumulation due to COASY mutation", "neurodegeneration with brain iron accumulation type 6", "Neurodegeneration With Brain Iron Accumulation type 6"], "equivalent_curie_eng": ["Orphanet:397725", "UMLS:C3810230", "DOID:0110740"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:615643", "iri": "http://purl.obolibrary.org/obo/OMIM_615643", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_397725", "http://purl.obolibrary.org/obo/UMLS_C3810230", "http://purl.obolibrary.org/obo/DOID_0110740"], "label_eng": ["neurodegeneration with brain iron accumulation 6", "Neurodegeneration With Brain Iron Accumulation 6", "Neurodegeneration with brain iron accumulation 6"], "definition_std": ["COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.", "Neurodegeneration with brain iron accumulation refers to a group of neurodegenerative disorders characterized by progressive motor and cognitive dysfunction beginning in childhood or young adulthood. Patients show extrapyramidal motor signs, such as spasticity, dystonia, and parkinsonism. Brain imaging shows iron accumulation in the basal ganglia (summary by {1:Dusi et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (OMIM:234200)."], "id_eng": "OMIM:615643", "definition_kw": ["COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.", "Neurodegeneration with brain iron accumulation refers to a group of neurodegenerative disorders characterized by progressive motor and cognitive dysfunction beginning in childhood or young adulthood. Patients show extrapyramidal motor signs, such as spasticity, dystonia, and parkinsonism. Brain imaging shows iron accumulation in the basal ganglia (summary by {1:Dusi et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (OMIM:234200)."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_397725", "http://purl.obolibrary.org/obo/UMLS_C3810230", "http://purl.obolibrary.org/obo/DOID_0110740"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_615643", "label_std": ["neurodegeneration with brain iron accumulation 6", "Neurodegeneration With Brain Iron Accumulation 6", "Neurodegeneration with brain iron accumulation 6"], "equivalent_curie": ["Orphanet:397725", "UMLS:C3810230", "DOID:0110740"], "equivalent_curie_kw": ["Orphanet:397725", "UMLS:C3810230", "DOID:0110740"], "synonym_eng": ["NBIA6", "CoPAN", "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6; NBIA6", "Neurodegeneration with brain iron accumulation due to COASY mutation", "neurodegeneration with brain iron accumulation type 6", "Neurodegeneration With Brain Iron Accumulation type 6"], "score": 16.886732, "id_kw": "OMIM:615643", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_397725", "http://purl.obolibrary.org/obo/UMLS_C3810230", "http://purl.obolibrary.org/obo/DOID_0110740"], "label_kw": ["neurodegeneration with brain iron accumulation 6", "Neurodegeneration With Brain Iron Accumulation 6", "Neurodegeneration with brain iron accumulation 6"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_615643", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_397725", "http://purl.obolibrary.org/obo/UMLS_C3810230", "http://purl.obolibrary.org/obo/DOID_0110740"], "_version_": 1580845545643048960, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_615643", "id": "OMIM:615643", "definition": ["COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.", "Neurodegeneration with brain iron accumulation refers to a group of neurodegenerative disorders characterized by progressive motor and cognitive dysfunction beginning in childhood or young adulthood. Patients show extrapyramidal motor signs, such as spasticity, dystonia, and parkinsonism. Brain imaging shows iron accumulation in the basal ganglia (summary by {1:Dusi et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (OMIM:234200)."], "synonym_kw": ["NBIA6", "CoPAN", "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6; NBIA6", "Neurodegeneration with brain iron accumulation due to COASY mutation", "neurodegeneration with brain iron accumulation type 6", "Neurodegeneration With Brain Iron Accumulation type 6"], "synonym_std": ["NBIA6", "CoPAN", "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6; NBIA6", "Neurodegeneration with brain iron accumulation due to COASY mutation", "neurodegeneration with brain iron accumulation type 6", "Neurodegeneration With Brain Iron Accumulation type 6"], "label": ["neurodegeneration with brain iron accumulation 6", "Neurodegeneration With Brain Iron Accumulation 6", "Neurodegeneration with brain iron accumulation 6"], "definition_eng": ["COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.", "Neurodegeneration with brain iron accumulation refers to a group of neurodegenerative disorders characterized by progressive motor and cognitive dysfunction beginning in childhood or young adulthood. Patients show extrapyramidal motor signs, such as spasticity, dystonia, and parkinsonism. Brain imaging shows iron accumulation in the basal ganglia (summary by {1:Dusi et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (OMIM:234200)."], "equivalent_curie_std": ["Orphanet:397725", "UMLS:C3810230", "DOID:0110740"], "category": ["disease"]}, {"synonym": ["Segawa syndrome, autosomal dominant", "Hereditary Progressive Dystonia with Marked Diurnal Fluctuation", "DYSTONIA, DOPA-RESPONSIVE; DRD", "Hereditary progressive dystonia with marked diurnal fluctuation", "Dopa-responsive dystonia, autosomal dominant", "Dystonia, Dopa-Responsive, Autosomal Dominant", "Dopa-Responsive Dystonia, Autosomal Dominant", "Dystonia-Parkinsonism With Diurnal Fluctuation", "DYT5a", "Autosomal dominant Segawa syndrome", "Dopa-Responsive Dystonia", "Dystonia, Dopa-responsive, autosomal dominant", "Dystonia, Progressive, With Diurnal Variation", "dystonia type 5", "Dystonia-Parkinsonism with diurnal fluctuation", "DRD", "GTPCH1-deficient DRD", "GTPCH1-deficient dopa-responsive dystonia", "Dystonia, progressive, with diurnal variation", "HPD with marked diurnal fluctuation", "Segawa Syndrome, Autosomal Dominant", "Dystonia 5"], "equivalent_curie_eng": ["Orphanet:98808", "UMLS:CN207122", "DOID:0090043", "MESH:C538007"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:128230", "iri": "http://purl.obolibrary.org/obo/OMIM_128230", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_98808", "http://purl.obolibrary.org/obo/UMLS_CN207122", "http://purl.obolibrary.org/obo/DOID_0090043", "http://purl.obolibrary.org/obo/MESH_C538007"], "label_eng": ["Dystonia, Dopa-Responsive", "dystonia 5", "Dystonia 5, Dopa-responsive type"], "definition_std": ["Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age."], "id_eng": "OMIM:128230", "definition_kw": ["Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_98808", "http://purl.obolibrary.org/obo/UMLS_CN207122", "http://purl.obolibrary.org/obo/DOID_0090043", "http://purl.obolibrary.org/obo/MESH_C538007"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_128230", "label_std": ["Dystonia, Dopa-Responsive", "dystonia 5", "Dystonia 5, Dopa-responsive type"], "equivalent_curie": ["Orphanet:98808", "UMLS:CN207122", "DOID:0090043", "MESH:C538007"], "equivalent_curie_kw": ["Orphanet:98808", "UMLS:CN207122", "DOID:0090043", "MESH:C538007"], "synonym_eng": ["Segawa syndrome, autosomal dominant", "Hereditary Progressive Dystonia with Marked Diurnal Fluctuation", "DYSTONIA, DOPA-RESPONSIVE; DRD", "Hereditary progressive dystonia with marked diurnal fluctuation", "Dopa-responsive dystonia, autosomal dominant", "Dystonia, Dopa-Responsive, Autosomal Dominant", "Dopa-Responsive Dystonia, Autosomal Dominant", "Dystonia-Parkinsonism With Diurnal Fluctuation", "DYT5a", "Autosomal dominant Segawa syndrome", "Dopa-Responsive Dystonia", "Dystonia, Dopa-responsive, autosomal dominant", "Dystonia, Progressive, With Diurnal Variation", "dystonia type 5", "Dystonia-Parkinsonism with diurnal fluctuation", "DRD", "GTPCH1-deficient DRD", "GTPCH1-deficient dopa-responsive dystonia", "Dystonia, progressive, with diurnal variation", "HPD with marked diurnal fluctuation", "Segawa Syndrome, Autosomal Dominant", "Dystonia 5"], "score": 16.790707, "id_kw": "OMIM:128230", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_98808", "http://purl.obolibrary.org/obo/UMLS_CN207122", "http://purl.obolibrary.org/obo/DOID_0090043", "http://purl.obolibrary.org/obo/MESH_C538007"], "label_kw": ["Dystonia, Dopa-Responsive", "dystonia 5", "Dystonia 5, Dopa-responsive type"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_128230", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_98808", "http://purl.obolibrary.org/obo/UMLS_CN207122", "http://purl.obolibrary.org/obo/DOID_0090043", "http://purl.obolibrary.org/obo/MESH_C538007"], "_version_": 1580845510224248832, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_128230", "id": "OMIM:128230", "definition": ["Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age."], "synonym_kw": ["Segawa syndrome, autosomal dominant", "Hereditary Progressive Dystonia with Marked Diurnal Fluctuation", "DYSTONIA, DOPA-RESPONSIVE; DRD", "Hereditary progressive dystonia with marked diurnal fluctuation", "Dopa-responsive dystonia, autosomal dominant", "Dystonia, Dopa-Responsive, Autosomal Dominant", "Dopa-Responsive Dystonia, Autosomal Dominant", "Dystonia-Parkinsonism With Diurnal Fluctuation", "DYT5a", "Autosomal dominant Segawa syndrome", "Dopa-Responsive Dystonia", "Dystonia, Dopa-responsive, autosomal dominant", "Dystonia, Progressive, With Diurnal Variation", "dystonia type 5", "Dystonia-Parkinsonism with diurnal fluctuation", "DRD", "GTPCH1-deficient DRD", "GTPCH1-deficient dopa-responsive dystonia", "Dystonia, progressive, with diurnal variation", "HPD with marked diurnal fluctuation", "Segawa Syndrome, Autosomal Dominant", "Dystonia 5"], "synonym_std": ["Segawa syndrome, autosomal dominant", "Hereditary Progressive Dystonia with Marked Diurnal Fluctuation", "DYSTONIA, DOPA-RESPONSIVE; DRD", "Hereditary progressive dystonia with marked diurnal fluctuation", "Dopa-responsive dystonia, autosomal dominant", "Dystonia, Dopa-Responsive, Autosomal Dominant", "Dopa-Responsive Dystonia, Autosomal Dominant", "Dystonia-Parkinsonism With Diurnal Fluctuation", "DYT5a", "Autosomal dominant Segawa syndrome", "Dopa-Responsive Dystonia", "Dystonia, Dopa-responsive, autosomal dominant", "Dystonia, Progressive, With Diurnal Variation", "dystonia type 5", "Dystonia-Parkinsonism with diurnal fluctuation", "DRD", "GTPCH1-deficient DRD", "GTPCH1-deficient dopa-responsive dystonia", "Dystonia, progressive, with diurnal variation", "HPD with marked diurnal fluctuation", "Segawa Syndrome, Autosomal Dominant", "Dystonia 5"], "label": ["Dystonia, Dopa-Responsive", "dystonia 5", "Dystonia 5, Dopa-responsive type"], "definition_eng": ["Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age."], "equivalent_curie_std": ["Orphanet:98808", "UMLS:CN207122", "DOID:0090043", "MESH:C538007"], "category": ["disease"]}, {"synonym": ["sca3"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK1196", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK1196", "label_eng": ["Spinocerebellar Ataxia Type 3"], "definition_std": ["Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is characterized by progressive cerebellar ataxia and variable findings including a dystonic-rigid syndrome, a parkinsonian syndrome, or a combined syndrome of dystonia and peripheral neuropathy. Neurologic findings tend to evolve as the disease progresses. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1196]"], "id_eng": "GeneReviews:NBK1196", "definition_kw": ["Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is characterized by progressive cerebellar ataxia and variable findings including a dystonic-rigid syndrome, a parkinsonian syndrome, or a combined syndrome of dystonia and peripheral neuropathy. Neurologic findings tend to evolve as the disease progresses. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1196]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK1196", "label_std": ["Spinocerebellar Ataxia Type 3"], "synonym_eng": ["sca3"], "score": 16.790707, "id_kw": "GeneReviews:NBK1196", "label_kw": ["Spinocerebellar Ataxia Type 3"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK1196", "_version_": 1580845510985515008, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK1196", "id": "GeneReviews:NBK1196", "definition": ["Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is characterized by progressive cerebellar ataxia and variable findings including a dystonic-rigid syndrome, a parkinsonian syndrome, or a combined syndrome of dystonia and peripheral neuropathy. Neurologic findings tend to evolve as the disease progresses. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1196]"], "synonym_kw": ["sca3"], "synonym_std": ["sca3"], "label": ["Spinocerebellar Ataxia Type 3"], "definition_eng": ["Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is characterized by progressive cerebellar ataxia and variable findings including a dystonic-rigid syndrome, a parkinsonian syndrome, or a combined syndrome of dystonia and peripheral neuropathy. Neurologic findings tend to evolve as the disease progresses. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1196]"], "category": ["disease"]}, {"synonym": ["inad"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK1675", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK1675", "label_eng": ["PLA2G6-Associated Neurodegeneration"], "definition_std": ["PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features: Classic infantile neuroaxonal dystrophy (INAD) Atypical neuroaxonal dystrophy (atypical NAD) PLA2G6-related dystonia-parkinsonism [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1675]"], "id_eng": "GeneReviews:NBK1675", "definition_kw": ["PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features: Classic infantile neuroaxonal dystrophy (INAD) Atypical neuroaxonal dystrophy (atypical NAD) PLA2G6-related dystonia-parkinsonism [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1675]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK1675", "label_std": ["PLA2G6-Associated Neurodegeneration"], "synonym_eng": ["inad"], "score": 16.790707, "id_kw": "GeneReviews:NBK1675", "label_kw": ["PLA2G6-Associated Neurodegeneration"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK1675", "_version_": 1580845511194181632, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK1675", "id": "GeneReviews:NBK1675", "definition": ["PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features: Classic infantile neuroaxonal dystrophy (INAD) Atypical neuroaxonal dystrophy (atypical NAD) PLA2G6-related dystonia-parkinsonism [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1675]"], "synonym_kw": ["inad"], "synonym_std": ["inad"], "label": ["PLA2G6-Associated Neurodegeneration"], "definition_eng": ["PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features: Classic infantile neuroaxonal dystrophy (INAD) Atypical neuroaxonal dystrophy (atypical NAD) PLA2G6-related dystonia-parkinsonism [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1675]"], "category": ["disease"]}, {"synonym": ["Bruns' Apraxia of Gait", "Dyspraxia of Gait", "Apraxia, Gait", "Apraxias, Frontal Gait", "Apraxias, Gait", "Gait Apraxias, Bruns'", "Gait Apraxia, Frontal", "Apraxia, Bruns' Gait", "Frontal Gait Apraxia", "Bruns' Gait Apraxias", "Bruns' Gait Apraxia", "Frontal Gait Apraxias", "Gait Apraxia, Bruns'", "Apraxia of Gait", "Gait Apraxias, Frontal", "Bruns' Apraxia, Gait", "Gait Dyspraxias", "Apraxia, Frontal Gait", "Gait apraxia (finding)", "Gait Apraxias", "Gait Dyspraxia", "Bruns Gait Apraxia", "Bruns Apraxia, Gait", "Apraxias, Bruns' Gait"], "equivalent_curie_eng": ["UMLS:C1510417", "MESH:D020235"], "leaf": true, "category_std": ["disease"], "id_std": "DOID:4260", "iri": "http://purl.obolibrary.org/obo/DOID_4260", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C1510417", "http://purl.obolibrary.org/obo/MESH_D020235"], "label_eng": ["gait apraxia"], "definition_std": ["Impaired ambulation not attributed to sensory impairment or motor weakness. FRONTAL LOBE disorders; BASAL GANGLIA DISEASES (e.g., PARKINSONIAN DISORDERS); DEMENTIA, MULTI-INFARCT; ALZHEIMER DISEASE; and other conditions may be associated with gait apraxia."], "id_eng": "DOID:4260", "definition_kw": ["Impaired ambulation not attributed to sensory impairment or motor weakness. FRONTAL LOBE disorders; BASAL GANGLIA DISEASES (e.g., PARKINSONIAN DISORDERS); DEMENTIA, MULTI-INFARCT; ALZHEIMER DISEASE; and other conditions may be associated with gait apraxia."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C1510417", "http://purl.obolibrary.org/obo/MESH_D020235"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/DOID_4260", "label_std": ["gait apraxia"], "equivalent_curie": ["UMLS:C1510417", "MESH:D020235"], "equivalent_curie_kw": ["UMLS:C1510417", "MESH:D020235"], "synonym_eng": ["Bruns' Apraxia of Gait", "Dyspraxia of Gait", "Apraxia, Gait", "Apraxias, Frontal Gait", "Apraxias, Gait", "Gait Apraxias, Bruns'", "Gait Apraxia, Frontal", "Apraxia, Bruns' Gait", "Frontal Gait Apraxia", "Bruns' Gait Apraxias", "Bruns' Gait Apraxia", "Frontal Gait Apraxias", "Gait Apraxia, Bruns'", "Apraxia of Gait", "Gait Apraxias, Frontal", "Bruns' Apraxia, Gait", "Gait Dyspraxias", "Apraxia, Frontal Gait", "Gait apraxia (finding)", "Gait Apraxias", "Gait Dyspraxia", "Bruns Gait Apraxia", "Bruns Apraxia, Gait", "Apraxias, Bruns' Gait"], "score": 16.790707, "id_kw": "DOID:4260", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C1510417", "http://purl.obolibrary.org/obo/MESH_D020235"], "label_kw": ["gait apraxia"], "iri_kw": "http://purl.obolibrary.org/obo/DOID_4260", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C1510417", "http://purl.obolibrary.org/obo/MESH_D020235"], "_version_": 1580845593869156353, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/DOID_4260", "id": "DOID:4260", "definition": ["Impaired ambulation not attributed to sensory impairment or motor weakness. FRONTAL LOBE disorders; BASAL GANGLIA DISEASES (e.g., PARKINSONIAN DISORDERS); DEMENTIA, MULTI-INFARCT; ALZHEIMER DISEASE; and other conditions may be associated with gait apraxia."], "synonym_kw": ["Bruns' Apraxia of Gait", "Dyspraxia of Gait", "Apraxia, Gait", "Apraxias, Frontal Gait", "Apraxias, Gait", "Gait Apraxias, Bruns'", "Gait Apraxia, Frontal", "Apraxia, Bruns' Gait", "Frontal Gait Apraxia", "Bruns' Gait Apraxias", "Bruns' Gait Apraxia", "Frontal Gait Apraxias", "Gait Apraxia, Bruns'", "Apraxia of Gait", "Gait Apraxias, Frontal", "Bruns' Apraxia, Gait", "Gait Dyspraxias", "Apraxia, Frontal Gait", "Gait apraxia (finding)", "Gait Apraxias", "Gait Dyspraxia", "Bruns Gait Apraxia", "Bruns Apraxia, Gait", "Apraxias, Bruns' Gait"], "synonym_std": ["Bruns' Apraxia of Gait", "Dyspraxia of Gait", "Apraxia, Gait", "Apraxias, Frontal Gait", "Apraxias, Gait", "Gait Apraxias, Bruns'", "Gait Apraxia, Frontal", "Apraxia, Bruns' Gait", "Frontal Gait Apraxia", "Bruns' Gait Apraxias", "Bruns' Gait Apraxia", "Frontal Gait Apraxias", "Gait Apraxia, Bruns'", "Apraxia of Gait", "Gait Apraxias, Frontal", "Bruns' Apraxia, Gait", "Gait Dyspraxias", "Apraxia, Frontal Gait", "Gait apraxia (finding)", "Gait Apraxias", "Gait Dyspraxia", "Bruns Gait Apraxia", "Bruns Apraxia, Gait", "Apraxias, Bruns' Gait"], "label": ["gait apraxia"], "definition_eng": ["Impaired ambulation not attributed to sensory impairment or motor weakness. FRONTAL LOBE disorders; BASAL GANGLIA DISEASES (e.g., PARKINSONIAN DISORDERS); DEMENTIA, MULTI-INFARCT; ALZHEIMER DISEASE; and other conditions may be associated with gait apraxia."], "equivalent_curie_std": ["UMLS:C1510417", "MESH:D020235"], "category": ["disease"]}, {"synonym": ["Quivers, Involuntary", "Senile Tremors", "Tremor, Action", "Tremors, Perioral", "Darkness Tremors", "Perioral Tremor", "Action Tremor", "Tremors, Static", "Tremor, Neonatal", "Persistent Tremor", "Perioral Tremors", "Static Tremors", "Tremors, Resting", "Muscle Tremors", "Nerve Tremor", "Pill Rolling Tremor", "Rolling Tremors, Pill", "Nerve Tremors", "Senile Tremor", "Intermittent Tremor", "Darkness Tremor", "Involuntary Quiver", "Muscle Tremor", "Tremor, Nerve", "Continuous Tremors", "Rest Tremors", "Action Tremors", "Intermittent Tremors", "Tremors, Limb", "Tremors, Rest", "Tremor, Perioral", "Tremors, Persistent", "Tremor, Limb", "Tremor, Persistent", "Passive Tremors", "Saturnine Tremor", "Tremor, Rest", "Persistent Tremors", "Resting Tremors", "Tremors", "Tremor, Static", "Rest Tremor", "Tremor, Intention", "Limb Tremors", "Tremor, Muscle", "Tremor, Continuous", "Resting Tremor", "Tremor, Senile", "Neonatal Tremor", "Tremors, Continuous", "Neonatal Tremors", "Tremors, Saturnine", "Intention Tremors", "Tremors, Fine", "Coarse Tremor", "Tremors, Passive", "Tremor, Semirhythmic", "Fine Tremors", "Tremors, Intention", "Involuntary Quivers", "Fine Tremor", "Continuous Tremor", "Intention Tremor", "Tremors, Muscle", "Tremor, Pill Rolling", "Tremors, Semirhythmic", "Tremor, Fine", "Tremor, Saturnine", "Tremors, Senile", "Tremors, Massive", "Static Tremor", "Pill Rolling Tremors", "Massive Tremors", "Rolling Tremor, Pill", "Semirhythmic Tremor", "Tremors, Pill Rolling", "Tremor, Darkness", "Tremors, Coarse", "Quiver, Involuntary", "Coarse Tremors", "Tremor, Intermittent", "Tremor, Massive", "Tremor, Passive", "Semirhythmic Tremors", "Tremor, Coarse", "Tremors, Neonatal", "Tremor, Resting", "Passive Tremor", "Tremors, Action", "Limb Tremor", "Saturnine Tremors", "Tremors, Darkness", "Tremors, Nerve", "Tremors, Intermittent", "Massive Tremor"], "equivalent_curie_eng": ["UMLS:CN227173", "UMLS:CN130231", "UMLS:CN227168", "UMLS:C0393615"], "leaf": false, "category_std": ["disease"], "id_std": "MESH:D014202", "iri": "http://purl.obolibrary.org/obo/MESH_D014202", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_CN227173", "http://purl.obolibrary.org/obo/UMLS_CN130231", "http://purl.obolibrary.org/obo/UMLS_CN227168", "http://purl.obolibrary.org/obo/UMLS_C0393615"], "label_eng": ["Tremor"], "definition_std": ["Cyclical movement of a body part that can represent either a physiologic process or a manifestation of disease. Intention or action tremor, a common manifestation of CEREBELLAR DISEASES, is aggravated by movement. In contrast, resting tremor is maximal when there is no attempt at voluntary movement, and occurs as a relatively frequent manifestation of PARKINSON DISEASE."], "id_eng": "MESH:D014202", "definition_kw": ["Cyclical movement of a body part that can represent either a physiologic process or a manifestation of disease. Intention or action tremor, a common manifestation of CEREBELLAR DISEASES, is aggravated by movement. In contrast, resting tremor is maximal when there is no attempt at voluntary movement, and occurs as a relatively frequent manifestation of PARKINSON DISEASE."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_CN227173", "http://purl.obolibrary.org/obo/UMLS_CN130231", "http://purl.obolibrary.org/obo/UMLS_CN227168", "http://purl.obolibrary.org/obo/UMLS_C0393615"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/MESH_D014202", "label_std": ["Tremor"], "equivalent_curie": ["UMLS:CN227173", "UMLS:CN130231", "UMLS:CN227168", "UMLS:C0393615"], "equivalent_curie_kw": ["UMLS:CN227173", "UMLS:CN130231", "UMLS:CN227168", "UMLS:C0393615"], "synonym_eng": ["Quivers, Involuntary", "Senile Tremors", "Tremor, Action", "Tremors, Perioral", "Darkness Tremors", "Perioral Tremor", "Action Tremor", "Tremors, Static", "Tremor, Neonatal", "Persistent Tremor", "Perioral Tremors", "Static Tremors", "Tremors, Resting", "Muscle Tremors", "Nerve Tremor", "Pill Rolling Tremor", "Rolling Tremors, Pill", "Nerve Tremors", "Senile Tremor", "Intermittent Tremor", "Darkness Tremor", "Involuntary Quiver", "Muscle Tremor", "Tremor, Nerve", "Continuous Tremors", "Rest Tremors", "Action Tremors", "Intermittent Tremors", "Tremors, Limb", "Tremors, Rest", "Tremor, Perioral", "Tremors, Persistent", "Tremor, Limb", "Tremor, Persistent", "Passive Tremors", "Saturnine Tremor", "Tremor, Rest", "Persistent Tremors", "Resting Tremors", "Tremors", "Tremor, Static", "Rest Tremor", "Tremor, Intention", "Limb Tremors", "Tremor, Muscle", "Tremor, Continuous", "Resting Tremor", "Tremor, Senile", "Neonatal Tremor", "Tremors, Continuous", "Neonatal Tremors", "Tremors, Saturnine", "Intention Tremors", "Tremors, Fine", "Coarse Tremor", "Tremors, Passive", "Tremor, Semirhythmic", "Fine Tremors", "Tremors, Intention", "Involuntary Quivers", "Fine Tremor", "Continuous Tremor", "Intention Tremor", "Tremors, Muscle", "Tremor, Pill Rolling", "Tremors, Semirhythmic", "Tremor, Fine", "Tremor, Saturnine", "Tremors, Senile", "Tremors, Massive", "Static Tremor", "Pill Rolling Tremors", "Massive Tremors", "Rolling Tremor, Pill", "Semirhythmic Tremor", "Tremors, Pill Rolling", "Tremor, Darkness", "Tremors, Coarse", "Quiver, Involuntary", "Coarse Tremors", "Tremor, Intermittent", "Tremor, Massive", "Tremor, Passive", "Semirhythmic Tremors", "Tremor, Coarse", "Tremors, Neonatal", "Tremor, Resting", "Passive Tremor", "Tremors, Action", "Limb Tremor", "Saturnine Tremors", "Tremors, Darkness", "Tremors, Nerve", "Tremors, Intermittent", "Massive Tremor"], "score": 16.790707, "id_kw": "MESH:D014202", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_CN227173", "http://purl.obolibrary.org/obo/UMLS_CN130231", "http://purl.obolibrary.org/obo/UMLS_CN227168", "http://purl.obolibrary.org/obo/UMLS_C0393615"], "label_kw": ["Tremor"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_D014202", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_CN227173", "http://purl.obolibrary.org/obo/UMLS_CN130231", "http://purl.obolibrary.org/obo/UMLS_CN227168", "http://purl.obolibrary.org/obo/UMLS_C0393615"], "_version_": 1580845554587402241, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/MESH_D014202", "id": "MESH:D014202", "definition": ["Cyclical movement of a body part that can represent either a physiologic process or a manifestation of disease. Intention or action tremor, a common manifestation of CEREBELLAR DISEASES, is aggravated by movement. In contrast, resting tremor is maximal when there is no attempt at voluntary movement, and occurs as a relatively frequent manifestation of PARKINSON DISEASE."], "synonym_kw": ["Quivers, Involuntary", "Senile Tremors", "Tremor, Action", "Tremors, Perioral", "Darkness Tremors", "Perioral Tremor", "Action Tremor", "Tremors, Static", "Tremor, Neonatal", "Persistent Tremor", "Perioral Tremors", "Static Tremors", "Tremors, Resting", "Muscle Tremors", "Nerve Tremor", "Pill Rolling Tremor", "Rolling Tremors, Pill", "Nerve Tremors", "Senile Tremor", "Intermittent Tremor", "Darkness Tremor", "Involuntary Quiver", "Muscle Tremor", "Tremor, Nerve", "Continuous Tremors", "Rest Tremors", "Action Tremors", "Intermittent Tremors", "Tremors, Limb", "Tremors, Rest", "Tremor, Perioral", "Tremors, Persistent", "Tremor, Limb", "Tremor, Persistent", "Passive Tremors", "Saturnine Tremor", "Tremor, Rest", "Persistent Tremors", "Resting Tremors", "Tremors", "Tremor, Static", "Rest Tremor", "Tremor, Intention", "Limb Tremors", "Tremor, Muscle", "Tremor, Continuous", "Resting Tremor", "Tremor, Senile", "Neonatal Tremor", "Tremors, Continuous", "Neonatal Tremors", "Tremors, Saturnine", "Intention Tremors", "Tremors, Fine", "Coarse Tremor", "Tremors, Passive", "Tremor, Semirhythmic", "Fine Tremors", "Tremors, Intention", "Involuntary Quivers", "Fine Tremor", "Continuous Tremor", "Intention Tremor", "Tremors, Muscle", "Tremor, Pill Rolling", "Tremors, Semirhythmic", "Tremor, Fine", "Tremor, Saturnine", "Tremors, Senile", "Tremors, Massive", "Static Tremor", "Pill Rolling Tremors", "Massive Tremors", "Rolling Tremor, Pill", "Semirhythmic Tremor", "Tremors, Pill Rolling", "Tremor, Darkness", "Tremors, Coarse", "Quiver, Involuntary", "Coarse Tremors", "Tremor, Intermittent", "Tremor, Massive", "Tremor, Passive", "Semirhythmic Tremors", "Tremor, Coarse", "Tremors, Neonatal", "Tremor, Resting", "Passive Tremor", "Tremors, Action", "Limb Tremor", "Saturnine Tremors", "Tremors, Darkness", "Tremors, Nerve", "Tremors, Intermittent", "Massive Tremor"], "synonym_std": ["Quivers, Involuntary", "Senile Tremors", "Tremor, Action", "Tremors, Perioral", "Darkness Tremors", "Perioral Tremor", "Action Tremor", "Tremors, Static", "Tremor, Neonatal", "Persistent Tremor", "Perioral Tremors", "Static Tremors", "Tremors, Resting", "Muscle Tremors", "Nerve Tremor", "Pill Rolling Tremor", "Rolling Tremors, Pill", "Nerve Tremors", "Senile Tremor", "Intermittent Tremor", "Darkness Tremor", "Involuntary Quiver", "Muscle Tremor", "Tremor, Nerve", "Continuous Tremors", "Rest Tremors", "Action Tremors", "Intermittent Tremors", "Tremors, Limb", "Tremors, Rest", "Tremor, Perioral", "Tremors, Persistent", "Tremor, Limb", "Tremor, Persistent", "Passive Tremors", "Saturnine Tremor", "Tremor, Rest", "Persistent Tremors", "Resting Tremors", "Tremors", "Tremor, Static", "Rest Tremor", "Tremor, Intention", "Limb Tremors", "Tremor, Muscle", "Tremor, Continuous", "Resting Tremor", "Tremor, Senile", "Neonatal Tremor", "Tremors, Continuous", "Neonatal Tremors", "Tremors, Saturnine", "Intention Tremors", "Tremors, Fine", "Coarse Tremor", "Tremors, Passive", "Tremor, Semirhythmic", "Fine Tremors", "Tremors, Intention", "Involuntary Quivers", "Fine Tremor", "Continuous Tremor", "Intention Tremor", "Tremors, Muscle", "Tremor, Pill Rolling", "Tremors, Semirhythmic", "Tremor, Fine", "Tremor, Saturnine", "Tremors, Senile", "Tremors, Massive", "Static Tremor", "Pill Rolling Tremors", "Massive Tremors", "Rolling Tremor, Pill", "Semirhythmic Tremor", "Tremors, Pill Rolling", "Tremor, Darkness", "Tremors, Coarse", "Quiver, Involuntary", "Coarse Tremors", "Tremor, Intermittent", "Tremor, Massive", "Tremor, Passive", "Semirhythmic Tremors", "Tremor, Coarse", "Tremors, Neonatal", "Tremor, Resting", "Passive Tremor", "Tremors, Action", "Limb Tremor", "Saturnine Tremors", "Tremors, Darkness", "Tremors, Nerve", "Tremors, Intermittent", "Massive Tremor"], "label": ["Tremor"], "definition_eng": ["Cyclical movement of a body part that can represent either a physiologic process or a manifestation of disease. Intention or action tremor, a common manifestation of CEREBELLAR DISEASES, is aggravated by movement. In contrast, resting tremor is maximal when there is no attempt at voluntary movement, and occurs as a relatively frequent manifestation of PARKINSON DISEASE."], "equivalent_curie_std": ["UMLS:CN227173", "UMLS:CN130231", "UMLS:CN227168", "UMLS:C0393615"], "category": ["disease"]}, {"synonym": ["Nervous System Diseases, Manganese Induced", "Neurotoxicity Syndromes, Manganese", "Poisoning, Manganese", "Nervous System Poisoning, Manganese", "Nervous System Diseases, Manganese-Induced", "Syndromes, Manganese Neurotoxicity", "Manganese Neurotoxicity Syndromes", "Syndrome, Manganese Neurotoxicity", "Neurotoxicity Syndrome, Manganese", "Manganese Neurotoxicity Syndrome"], "leaf": true, "category_std": ["disease"], "id_std": "MESH:D020149", "iri": "http://purl.obolibrary.org/obo/MESH_D020149", "label_eng": ["Manganese Poisoning"], "definition_std": ["Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include CONFUSION; HALLUCINATIONS; and an extrapyramidal syndrome (PARKINSON DISEASE, SECONDARY) that includes rigidity; DYSTONIA; retropulsion; and TREMOR. (Adams, Principles of Neurology, 6th ed, p1213)"], "id_eng": "MESH:D020149", "definition_kw": ["Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include CONFUSION; HALLUCINATIONS; and an extrapyramidal syndrome (PARKINSON DISEASE, SECONDARY) that includes rigidity; DYSTONIA; retropulsion; and TREMOR. (Adams, Principles of Neurology, 6th ed, p1213)"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/MESH_D020149", "label_std": ["Manganese Poisoning"], "synonym_eng": ["Nervous System Diseases, Manganese Induced", "Neurotoxicity Syndromes, Manganese", "Poisoning, Manganese", "Nervous System Poisoning, Manganese", "Nervous System Diseases, Manganese-Induced", "Syndromes, Manganese Neurotoxicity", "Manganese Neurotoxicity Syndromes", "Syndrome, Manganese Neurotoxicity", "Neurotoxicity Syndrome, Manganese", "Manganese Neurotoxicity Syndrome"], "score": 16.790707, "id_kw": "MESH:D020149", "label_kw": ["Manganese Poisoning"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_D020149", "_version_": 1580845554825428993, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/MESH_D020149", "id": "MESH:D020149", "definition": ["Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include CONFUSION; HALLUCINATIONS; and an extrapyramidal syndrome (PARKINSON DISEASE, SECONDARY) that includes rigidity; DYSTONIA; retropulsion; and TREMOR. (Adams, Principles of Neurology, 6th ed, p1213)"], "synonym_kw": ["Nervous System Diseases, Manganese Induced", "Neurotoxicity Syndromes, Manganese", "Poisoning, Manganese", "Nervous System Poisoning, Manganese", "Nervous System Diseases, Manganese-Induced", "Syndromes, Manganese Neurotoxicity", "Manganese Neurotoxicity Syndromes", "Syndrome, Manganese Neurotoxicity", "Neurotoxicity Syndrome, Manganese", "Manganese Neurotoxicity Syndrome"], "synonym_std": ["Nervous System Diseases, Manganese Induced", "Neurotoxicity Syndromes, Manganese", "Poisoning, Manganese", "Nervous System Poisoning, Manganese", "Nervous System Diseases, Manganese-Induced", "Syndromes, Manganese Neurotoxicity", "Manganese Neurotoxicity Syndromes", "Syndrome, Manganese Neurotoxicity", "Neurotoxicity Syndrome, Manganese", "Manganese Neurotoxicity Syndrome"], "label": ["Manganese Poisoning"], "definition_eng": ["Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include CONFUSION; HALLUCINATIONS; and an extrapyramidal syndrome (PARKINSON DISEASE, SECONDARY) that includes rigidity; DYSTONIA; retropulsion; and TREMOR. (Adams, Principles of Neurology, 6th ed, p1213)"], "category": ["disease"]}, {"synonym": ["thdrd"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK1437", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK1437", "label_eng": ["Tyrosine Hydroxylase Deficiency"], "definition_std": ["Tyrosine hydroxylase (TH) deficiency is associated with a broad phenotypic spectrum. Based on severity of symptoms/signs as well as responsiveness to levodopa therapy, clinical phenotypes caused by TH pathogenic variants are divided into (1) TH-deficient dopa-responsive dystonia (DRD: the mild form of TH deficiency [DYT5b]), (2) TH-deficient infantile parkinsonism with motor delay (the severe form), and (3) TH-deficient progressive infantile encephalopathy (the very severe form).In individuals with TH-deficient DRD, onset is between age 12 months and six years; initial symptoms are typically lower-limb dystonia and/or difficulty in walking. Diurnal fluctuation of symptoms (worsening of the symptoms toward the evening and their alleviation in the morning after sleep) may be present. In most individuals with TH-deficient infantile parkinsonism with motor delay, onset is between age three and 12 months. In contrast to TH-deficient DRD, motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor). In individuals with TH-deficient progressive infantile encephalopathy, onset is before age three to six months. Fetal distress is reported in most. Affected individuals have marked delay in motor development, truncal hypotonia, severe hypokinesia, limb hypertonia (rigidity and/or spasticity), hyperreflexia, oculogyric crises, ptosis, mental retardation, and paroxysmal periods of lethargy (with increased sweating and drooling) alternating with irritability. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1437]"], "id_eng": "GeneReviews:NBK1437", "definition_kw": ["Tyrosine hydroxylase (TH) deficiency is associated with a broad phenotypic spectrum. Based on severity of symptoms/signs as well as responsiveness to levodopa therapy, clinical phenotypes caused by TH pathogenic variants are divided into (1) TH-deficient dopa-responsive dystonia (DRD: the mild form of TH deficiency [DYT5b]), (2) TH-deficient infantile parkinsonism with motor delay (the severe form), and (3) TH-deficient progressive infantile encephalopathy (the very severe form).In individuals with TH-deficient DRD, onset is between age 12 months and six years; initial symptoms are typically lower-limb dystonia and/or difficulty in walking. Diurnal fluctuation of symptoms (worsening of the symptoms toward the evening and their alleviation in the morning after sleep) may be present. In most individuals with TH-deficient infantile parkinsonism with motor delay, onset is between age three and 12 months. In contrast to TH-deficient DRD, motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor). In individuals with TH-deficient progressive infantile encephalopathy, onset is before age three to six months. Fetal distress is reported in most. Affected individuals have marked delay in motor development, truncal hypotonia, severe hypokinesia, limb hypertonia (rigidity and/or spasticity), hyperreflexia, oculogyric crises, ptosis, mental retardation, and paroxysmal periods of lethargy (with increased sweating and drooling) alternating with irritability. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1437]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK1437", "label_std": ["Tyrosine Hydroxylase Deficiency"], "synonym_eng": ["thdrd"], "score": 15.055064, "id_kw": "GeneReviews:NBK1437", "label_kw": ["Tyrosine Hydroxylase Deficiency"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK1437", "_version_": 1580845509946376193, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK1437", "id": "GeneReviews:NBK1437", "definition": ["Tyrosine hydroxylase (TH) deficiency is associated with a broad phenotypic spectrum. Based on severity of symptoms/signs as well as responsiveness to levodopa therapy, clinical phenotypes caused by TH pathogenic variants are divided into (1) TH-deficient dopa-responsive dystonia (DRD: the mild form of TH deficiency [DYT5b]), (2) TH-deficient infantile parkinsonism with motor delay (the severe form), and (3) TH-deficient progressive infantile encephalopathy (the very severe form).In individuals with TH-deficient DRD, onset is between age 12 months and six years; initial symptoms are typically lower-limb dystonia and/or difficulty in walking. Diurnal fluctuation of symptoms (worsening of the symptoms toward the evening and their alleviation in the morning after sleep) may be present. In most individuals with TH-deficient infantile parkinsonism with motor delay, onset is between age three and 12 months. In contrast to TH-deficient DRD, motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor). In individuals with TH-deficient progressive infantile encephalopathy, onset is before age three to six months. Fetal distress is reported in most. Affected individuals have marked delay in motor development, truncal hypotonia, severe hypokinesia, limb hypertonia (rigidity and/or spasticity), hyperreflexia, oculogyric crises, ptosis, mental retardation, and paroxysmal periods of lethargy (with increased sweating and drooling) alternating with irritability. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1437]"], "synonym_kw": ["thdrd"], "synonym_std": ["thdrd"], "label": ["Tyrosine Hydroxylase Deficiency"], "definition_eng": ["Tyrosine hydroxylase (TH) deficiency is associated with a broad phenotypic spectrum. Based on severity of symptoms/signs as well as responsiveness to levodopa therapy, clinical phenotypes caused by TH pathogenic variants are divided into (1) TH-deficient dopa-responsive dystonia (DRD: the mild form of TH deficiency [DYT5b]), (2) TH-deficient infantile parkinsonism with motor delay (the severe form), and (3) TH-deficient progressive infantile encephalopathy (the very severe form).In individuals with TH-deficient DRD, onset is between age 12 months and six years; initial symptoms are typically lower-limb dystonia and/or difficulty in walking. Diurnal fluctuation of symptoms (worsening of the symptoms toward the evening and their alleviation in the morning after sleep) may be present. In most individuals with TH-deficient infantile parkinsonism with motor delay, onset is between age three and 12 months. In contrast to TH-deficient DRD, motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor). In individuals with TH-deficient progressive infantile encephalopathy, onset is before age three to six months. Fetal distress is reported in most. Affected individuals have marked delay in motor development, truncal hypotonia, severe hypokinesia, limb hypertonia (rigidity and/or spasticity), hyperreflexia, oculogyric crises, ptosis, mental retardation, and paroxysmal periods of lethargy (with increased sweating and drooling) alternating with irritability. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1437]"], "category": ["disease"]}, {"synonym": ["Steele-Richardson-Olszewski disease", "PSNP1", "Supranuclear Palsy, Progressive, type 1", "Steele-Richardson-Olszewski Syndrome", "SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1", "Psp", "Classic PSP syndrome", "Richardson syndrome"], "equivalent_curie_eng": ["Orphanet:240071", "UMLS:CN201679"], "leaf": false, "category_std": ["disease"], "id_std": "OMIM:601104", "iri": "http://purl.obolibrary.org/obo/OMIM_601104", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_240071", "http://purl.obolibrary.org/obo/UMLS_CN201679"], "label_eng": ["Classic progressive supranuclear palsy syndrome", "Progressive supranuclear ophthalmoplegia", "Supranuclear Palsy, Progressive, 1"], "definition_std": ["Progressive supranuclear palsy (PSP) is the second most frequent cause of degenerative parkinsonism. In addition to parkinsonism, the clinical symptoms include early postural instability, supranuclear gaze palsy, and cognitive decline. Neuropathologically, the disorder is characterized by abundant neurofibrillary tangles, which differ in both distribution and composition from those associated with Alzheimer disease. In progressive supranuclear palsy, the tangles are primarily localized to subcortical regions and are found in both neurons and glia, whereas in Alzheimer disease they are more widespread, largely cortical, and limited to neurons. They also have different characteristics at the ultrastructural level ({1:Baker et al., 1999}).\n\n{15:Kertesz (2003)} suggested the term 'Pick complex' to represent the overlapping syndromes of frontotemporal dementia (FTD; OMIM:600274), primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' (OMIM:172700) should be restricted to the pathologic finding of Pick bodies.\n\n<Subhead> Genetic Heterogeneity of Progressive Supranuclear Palsy\n\nOther loci for PSP have been mapped to chromosome 1q31 (PSNP2; OMIM:609454) and 11p12-p11 (PSNP3; OMIM:610898).\n\nSee also Parkinson-dementia syndrome and atypical progressive supranuclear palsy (OMIM:260540).", "Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia."], "id_eng": "OMIM:601104", "definition_kw": ["Progressive supranuclear palsy (PSP) is the second most frequent cause of degenerative parkinsonism. In addition to parkinsonism, the clinical symptoms include early postural instability, supranuclear gaze palsy, and cognitive decline. Neuropathologically, the disorder is characterized by abundant neurofibrillary tangles, which differ in both distribution and composition from those associated with Alzheimer disease. In progressive supranuclear palsy, the tangles are primarily localized to subcortical regions and are found in both neurons and glia, whereas in Alzheimer disease they are more widespread, largely cortical, and limited to neurons. They also have different characteristics at the ultrastructural level ({1:Baker et al., 1999}).\n\n{15:Kertesz (2003)} suggested the term 'Pick complex' to represent the overlapping syndromes of frontotemporal dementia (FTD; OMIM:600274), primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' (OMIM:172700) should be restricted to the pathologic finding of Pick bodies.\n\n<Subhead> Genetic Heterogeneity of Progressive Supranuclear Palsy\n\nOther loci for PSP have been mapped to chromosome 1q31 (PSNP2; OMIM:609454) and 11p12-p11 (PSNP3; OMIM:610898).\n\nSee also Parkinson-dementia syndrome and atypical progressive supranuclear palsy (OMIM:260540).", "Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_240071", "http://purl.obolibrary.org/obo/UMLS_CN201679"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_601104", "label_std": ["Classic progressive supranuclear palsy syndrome", "Progressive supranuclear ophthalmoplegia", "Supranuclear Palsy, Progressive, 1"], "equivalent_curie": ["Orphanet:240071", "UMLS:CN201679"], "equivalent_curie_kw": ["Orphanet:240071", "UMLS:CN201679"], "synonym_eng": ["Steele-Richardson-Olszewski disease", "PSNP1", "Supranuclear Palsy, Progressive, type 1", "Steele-Richardson-Olszewski Syndrome", "SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1", "Psp", "Classic PSP syndrome", "Richardson syndrome"], "score": 15.055064, "id_kw": "OMIM:601104", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_240071", "http://purl.obolibrary.org/obo/UMLS_CN201679"], "label_kw": ["Classic progressive supranuclear palsy syndrome", "Progressive supranuclear ophthalmoplegia", "Supranuclear Palsy, Progressive, 1"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_601104", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_240071", "http://purl.obolibrary.org/obo/UMLS_CN201679"], "_version_": 1580845510052282368, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_601104", "id": "OMIM:601104", "definition": ["Progressive supranuclear palsy (PSP) is the second most frequent cause of degenerative parkinsonism. In addition to parkinsonism, the clinical symptoms include early postural instability, supranuclear gaze palsy, and cognitive decline. Neuropathologically, the disorder is characterized by abundant neurofibrillary tangles, which differ in both distribution and composition from those associated with Alzheimer disease. In progressive supranuclear palsy, the tangles are primarily localized to subcortical regions and are found in both neurons and glia, whereas in Alzheimer disease they are more widespread, largely cortical, and limited to neurons. They also have different characteristics at the ultrastructural level ({1:Baker et al., 1999}).\n\n{15:Kertesz (2003)} suggested the term 'Pick complex' to represent the overlapping syndromes of frontotemporal dementia (FTD; OMIM:600274), primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' (OMIM:172700) should be restricted to the pathologic finding of Pick bodies.\n\n<Subhead> Genetic Heterogeneity of Progressive Supranuclear Palsy\n\nOther loci for PSP have been mapped to chromosome 1q31 (PSNP2; OMIM:609454) and 11p12-p11 (PSNP3; OMIM:610898).\n\nSee also Parkinson-dementia syndrome and atypical progressive supranuclear palsy (OMIM:260540).", "Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia."], "synonym_kw": ["Steele-Richardson-Olszewski disease", "PSNP1", "Supranuclear Palsy, Progressive, type 1", "Steele-Richardson-Olszewski Syndrome", "SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1", "Psp", "Classic PSP syndrome", "Richardson syndrome"], "synonym_std": ["Steele-Richardson-Olszewski disease", "PSNP1", "Supranuclear Palsy, Progressive, type 1", "Steele-Richardson-Olszewski Syndrome", "SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1", "Psp", "Classic PSP syndrome", "Richardson syndrome"], "label": ["Classic progressive supranuclear palsy syndrome", "Progressive supranuclear ophthalmoplegia", "Supranuclear Palsy, Progressive, 1"], "definition_eng": ["Progressive supranuclear palsy (PSP) is the second most frequent cause of degenerative parkinsonism. In addition to parkinsonism, the clinical symptoms include early postural instability, supranuclear gaze palsy, and cognitive decline. Neuropathologically, the disorder is characterized by abundant neurofibrillary tangles, which differ in both distribution and composition from those associated with Alzheimer disease. In progressive supranuclear palsy, the tangles are primarily localized to subcortical regions and are found in both neurons and glia, whereas in Alzheimer disease they are more widespread, largely cortical, and limited to neurons. They also have different characteristics at the ultrastructural level ({1:Baker et al., 1999}).\n\n{15:Kertesz (2003)} suggested the term 'Pick complex' to represent the overlapping syndromes of frontotemporal dementia (FTD; OMIM:600274), primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' (OMIM:172700) should be restricted to the pathologic finding of Pick bodies.\n\n<Subhead> Genetic Heterogeneity of Progressive Supranuclear Palsy\n\nOther loci for PSP have been mapped to chromosome 1q31 (PSNP2; OMIM:609454) and 11p12-p11 (PSNP3; OMIM:610898).\n\nSee also Parkinson-dementia syndrome and atypical progressive supranuclear palsy (OMIM:260540).", "Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia."], "equivalent_curie_std": ["Orphanet:240071", "UMLS:CN201679"], "category": ["disease"]}, {"synonym": ["Bradbury-Eggleston syndrome", "Bradbury Eggleston Syndrome", "Syndrome, Bradbury-Eggleston", "MSA1", "Msa1, Susceptibility to", "Hypotension, Orthostatic", "PAF", "Pure idiopatic dysautonomia", "Idiopathic orthostatic hypotension", "Pure dysautonomia", "MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1", "Autonomic Failure, Pure", "Bradbury-Eggleston Syndrome"], "equivalent_curie_eng": ["Orphanet:441", "UMLS:C0393911", "MESH:D054970"], "leaf": false, "category_std": ["disease"], "id_std": "OMIM:146500", "iri": "http://purl.obolibrary.org/obo/OMIM_146500", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_441", "http://purl.obolibrary.org/obo/UMLS_C0393911", "http://purl.obolibrary.org/obo/MESH_D054970"], "label_eng": ["Multiple System Atrophy 1, Susceptibility to", "Pure autonomic failure", "Shy-Drager syndrome"], "definition_std": ["Multiple system atrophy (MSA) is a distinct clinicopathologic entity that manifests as a progressive adult-onset neurodegenerative disorder causing parkinsonism, cerebellar ataxia, and autonomic, urogenital, and pyramidal dysfunction in various combinations. Two main subtypes are recognized: 'subtype C,' characterized predominantly by cerebellar ataxia, and 'subtype P,' characterized predominantly by parkinsonism. MSA is characterized pathologically by the degeneration of striatonigral and olivopontocerebellar structures and glial cytoplasmic inclusions that consist of abnormally phosphorylated alpha-synuclein (SNCA; OMIM:163890) or tau (MAPT; OMIM:157140) ({5:Gilman et al., 1998}; {6:Gilman et al., 2008}; {16:Scholz et al., 2009}). 'Subtype C' of MSA has been reported to be more prevalent than 'subtype P' in the Japanese population (65-67% vs 33-35%), whereas 'subtype P' has been reported to be more prevalent than 'subtype C' in Europe (63% vs 34%) and North America (60% vs 13%, with 27% of cases unclassified) (summary by {20:The Multiple-System Atrophy Research Collaboration, 2013}).\n\nMSA is similar clinically and pathologically to Parkinson disease (PD; OMIM:168600) and Lewy body dementia (OMIM:127750). See also PARK1 (OMIM:168601), which is specifically caused by mutation in the SNCA gene.\n\nPure autonomic failure manifests as orthostatic hypotension and other autonomic abnormalities without other neurologic involvement. Although there is some phenotypic overlap, the relationship of pure autonomic failure to MSA is unclear ({21:Vanderhaeghen et al., 1970}; {15:Schatz, 1996}).", "Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension."], "id_eng": "OMIM:146500", "definition_kw": ["Multiple system atrophy (MSA) is a distinct clinicopathologic entity that manifests as a progressive adult-onset neurodegenerative disorder causing parkinsonism, cerebellar ataxia, and autonomic, urogenital, and pyramidal dysfunction in various combinations. Two main subtypes are recognized: 'subtype C,' characterized predominantly by cerebellar ataxia, and 'subtype P,' characterized predominantly by parkinsonism. MSA is characterized pathologically by the degeneration of striatonigral and olivopontocerebellar structures and glial cytoplasmic inclusions that consist of abnormally phosphorylated alpha-synuclein (SNCA; OMIM:163890) or tau (MAPT; OMIM:157140) ({5:Gilman et al., 1998}; {6:Gilman et al., 2008}; {16:Scholz et al., 2009}). 'Subtype C' of MSA has been reported to be more prevalent than 'subtype P' in the Japanese population (65-67% vs 33-35%), whereas 'subtype P' has been reported to be more prevalent than 'subtype C' in Europe (63% vs 34%) and North America (60% vs 13%, with 27% of cases unclassified) (summary by {20:The Multiple-System Atrophy Research Collaboration, 2013}).\n\nMSA is similar clinically and pathologically to Parkinson disease (PD; OMIM:168600) and Lewy body dementia (OMIM:127750). See also PARK1 (OMIM:168601), which is specifically caused by mutation in the SNCA gene.\n\nPure autonomic failure manifests as orthostatic hypotension and other autonomic abnormalities without other neurologic involvement. Although there is some phenotypic overlap, the relationship of pure autonomic failure to MSA is unclear ({21:Vanderhaeghen et al., 1970}; {15:Schatz, 1996}).", "Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_441", "http://purl.obolibrary.org/obo/UMLS_C0393911", "http://purl.obolibrary.org/obo/MESH_D054970"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_146500", "label_std": ["Multiple System Atrophy 1, Susceptibility to", "Pure autonomic failure", "Shy-Drager syndrome"], "equivalent_curie": ["Orphanet:441", "UMLS:C0393911", "MESH:D054970"], "equivalent_curie_kw": ["Orphanet:441", "UMLS:C0393911", "MESH:D054970"], "synonym_eng": ["Bradbury-Eggleston syndrome", "Bradbury Eggleston Syndrome", "Syndrome, Bradbury-Eggleston", "MSA1", "Msa1, Susceptibility to", "Hypotension, Orthostatic", "PAF", "Pure idiopatic dysautonomia", "Idiopathic orthostatic hypotension", "Pure dysautonomia", "MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1", "Autonomic Failure, Pure", "Bradbury-Eggleston Syndrome"], "score": 15.055064, "id_kw": "OMIM:146500", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_441", "http://purl.obolibrary.org/obo/UMLS_C0393911", "http://purl.obolibrary.org/obo/MESH_D054970"], "label_kw": ["Multiple System Atrophy 1, Susceptibility to", "Pure autonomic failure", "Shy-Drager syndrome"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_146500", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_441", "http://purl.obolibrary.org/obo/UMLS_C0393911", "http://purl.obolibrary.org/obo/MESH_D054970"], "_version_": 1580845544170848256, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_146500", "id": "OMIM:146500", "definition": ["Multiple system atrophy (MSA) is a distinct clinicopathologic entity that manifests as a progressive adult-onset neurodegenerative disorder causing parkinsonism, cerebellar ataxia, and autonomic, urogenital, and pyramidal dysfunction in various combinations. Two main subtypes are recognized: 'subtype C,' characterized predominantly by cerebellar ataxia, and 'subtype P,' characterized predominantly by parkinsonism. MSA is characterized pathologically by the degeneration of striatonigral and olivopontocerebellar structures and glial cytoplasmic inclusions that consist of abnormally phosphorylated alpha-synuclein (SNCA; OMIM:163890) or tau (MAPT; OMIM:157140) ({5:Gilman et al., 1998}; {6:Gilman et al., 2008}; {16:Scholz et al., 2009}). 'Subtype C' of MSA has been reported to be more prevalent than 'subtype P' in the Japanese population (65-67% vs 33-35%), whereas 'subtype P' has been reported to be more prevalent than 'subtype C' in Europe (63% vs 34%) and North America (60% vs 13%, with 27% of cases unclassified) (summary by {20:The Multiple-System Atrophy Research Collaboration, 2013}).\n\nMSA is similar clinically and pathologically to Parkinson disease (PD; OMIM:168600) and Lewy body dementia (OMIM:127750). See also PARK1 (OMIM:168601), which is specifically caused by mutation in the SNCA gene.\n\nPure autonomic failure manifests as orthostatic hypotension and other autonomic abnormalities without other neurologic involvement. Although there is some phenotypic overlap, the relationship of pure autonomic failure to MSA is unclear ({21:Vanderhaeghen et al., 1970}; {15:Schatz, 1996}).", "Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension."], "synonym_kw": ["Bradbury-Eggleston syndrome", "Bradbury Eggleston Syndrome", "Syndrome, Bradbury-Eggleston", "MSA1", "Msa1, Susceptibility to", "Hypotension, Orthostatic", "PAF", "Pure idiopatic dysautonomia", "Idiopathic orthostatic hypotension", "Pure dysautonomia", "MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1", "Autonomic Failure, Pure", "Bradbury-Eggleston Syndrome"], "synonym_std": ["Bradbury-Eggleston syndrome", "Bradbury Eggleston Syndrome", "Syndrome, Bradbury-Eggleston", "MSA1", "Msa1, Susceptibility to", "Hypotension, Orthostatic", "PAF", "Pure idiopatic dysautonomia", "Idiopathic orthostatic hypotension", "Pure dysautonomia", "MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1", "Autonomic Failure, Pure", "Bradbury-Eggleston Syndrome"], "label": ["Multiple System Atrophy 1, Susceptibility to", "Pure autonomic failure", "Shy-Drager syndrome"], "definition_eng": ["Multiple system atrophy (MSA) is a distinct clinicopathologic entity that manifests as a progressive adult-onset neurodegenerative disorder causing parkinsonism, cerebellar ataxia, and autonomic, urogenital, and pyramidal dysfunction in various combinations. Two main subtypes are recognized: 'subtype C,' characterized predominantly by cerebellar ataxia, and 'subtype P,' characterized predominantly by parkinsonism. MSA is characterized pathologically by the degeneration of striatonigral and olivopontocerebellar structures and glial cytoplasmic inclusions that consist of abnormally phosphorylated alpha-synuclein (SNCA; OMIM:163890) or tau (MAPT; OMIM:157140) ({5:Gilman et al., 1998}; {6:Gilman et al., 2008}; {16:Scholz et al., 2009}). 'Subtype C' of MSA has been reported to be more prevalent than 'subtype P' in the Japanese population (65-67% vs 33-35%), whereas 'subtype P' has been reported to be more prevalent than 'subtype C' in Europe (63% vs 34%) and North America (60% vs 13%, with 27% of cases unclassified) (summary by {20:The Multiple-System Atrophy Research Collaboration, 2013}).\n\nMSA is similar clinically and pathologically to Parkinson disease (PD; OMIM:168600) and Lewy body dementia (OMIM:127750). See also PARK1 (OMIM:168601), which is specifically caused by mutation in the SNCA gene.\n\nPure autonomic failure manifests as orthostatic hypotension and other autonomic abnormalities without other neurologic involvement. Although there is some phenotypic overlap, the relationship of pure autonomic failure to MSA is unclear ({21:Vanderhaeghen et al., 1970}; {15:Schatz, 1996}).", "Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension."], "equivalent_curie_std": ["Orphanet:441", "UMLS:C0393911", "MESH:D054970"], "category": ["disease"]}, {"synonym": ["rett"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK1497", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK1497", "label_eng": ["MECP2-Related Disorders"], "definition_std": ["MECP2-related disorders in females include classic Rett syndrome, variant Rett syndrome, and mild learning disabilities. A pathogenic MECP2 variant in a male is presumed to most often be lethal; phenotypes in rare surviving males are primarily severe neonatal encephalopathy and manic-depressive psychosis, pyramidal signs, Parkinsonian, and macro-orchidism (PPM-X syndrome). [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1497]"], "id_eng": "GeneReviews:NBK1497", "definition_kw": ["MECP2-related disorders in females include classic Rett syndrome, variant Rett syndrome, and mild learning disabilities. A pathogenic MECP2 variant in a male is presumed to most often be lethal; phenotypes in rare surviving males are primarily severe neonatal encephalopathy and manic-depressive psychosis, pyramidal signs, Parkinsonian, and macro-orchidism (PPM-X syndrome). [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1497]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK1497", "label_std": ["MECP2-Related Disorders"], "synonym_eng": ["rett"], "score": 14.960119, "id_kw": "GeneReviews:NBK1497", "label_kw": ["MECP2-Related Disorders"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK1497", "_version_": 1580845509913870336, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK1497", "id": "GeneReviews:NBK1497", "definition": ["MECP2-related disorders in females include classic Rett syndrome, variant Rett syndrome, and mild learning disabilities. A pathogenic MECP2 variant in a male is presumed to most often be lethal; phenotypes in rare surviving males are primarily severe neonatal encephalopathy and manic-depressive psychosis, pyramidal signs, Parkinsonian, and macro-orchidism (PPM-X syndrome). [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1497]"], "synonym_kw": ["rett"], "synonym_std": ["rett"], "label": ["MECP2-Related Disorders"], "definition_eng": ["MECP2-related disorders in females include classic Rett syndrome, variant Rett syndrome, and mild learning disabilities. A pathogenic MECP2 variant in a male is presumed to most often be lethal; phenotypes in rare surviving males are primarily severe neonatal encephalopathy and manic-depressive psychosis, pyramidal signs, Parkinsonian, and macro-orchidism (PPM-X syndrome). [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1497]"], "category": ["disease"]}, {"synonym": ["BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4; IBGC4", "Basal Ganglia Calcification, Idiopathic, type 4", "IBGC4"], "equivalent_curie_eng": ["UMLS:C3554321"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:615007", "iri": "http://purl.obolibrary.org/obo/OMIM_615007", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3554321"], "label_eng": ["Basal Ganglia Calcification, Idiopathic, 4", "Basal ganglia calcification, idiopathic, 4"], "definition_std": ["Idiopathic basal ganglia calcification-4 is an autosomal dominant condition characterized by the accumulation of calcium deposits in various brain regions, most commonly in the basal ganglia. About half of mutation carriers are asymptomatic, but some present later in life with parkinsonism and impaired cognitive function. Migraine or depression may occur in younger individuals (summary by {1:Nicolas et al., 2013}).\n\nFor a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (OMIM:213600).", "See http://www.omim.org/entry/615007"], "id_eng": "OMIM:615007", "definition_kw": ["Idiopathic basal ganglia calcification-4 is an autosomal dominant condition characterized by the accumulation of calcium deposits in various brain regions, most commonly in the basal ganglia. About half of mutation carriers are asymptomatic, but some present later in life with parkinsonism and impaired cognitive function. Migraine or depression may occur in younger individuals (summary by {1:Nicolas et al., 2013}).\n\nFor a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (OMIM:213600).", "See http://www.omim.org/entry/615007"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3554321"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_615007", "label_std": ["Basal Ganglia Calcification, Idiopathic, 4", "Basal ganglia calcification, idiopathic, 4"], "equivalent_curie": ["UMLS:C3554321"], "equivalent_curie_kw": ["UMLS:C3554321"], "synonym_eng": ["BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4; IBGC4", "Basal Ganglia Calcification, Idiopathic, type 4", "IBGC4"], "score": 14.960119, "id_kw": "OMIM:615007", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3554321"], "label_kw": ["Basal Ganglia Calcification, Idiopathic, 4", "Basal ganglia calcification, idiopathic, 4"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_615007", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3554321"], "_version_": 1580845510639484929, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_615007", "id": "OMIM:615007", "definition": ["Idiopathic basal ganglia calcification-4 is an autosomal dominant condition characterized by the accumulation of calcium deposits in various brain regions, most commonly in the basal ganglia. About half of mutation carriers are asymptomatic, but some present later in life with parkinsonism and impaired cognitive function. Migraine or depression may occur in younger individuals (summary by {1:Nicolas et al., 2013}).\n\nFor a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (OMIM:213600).", "See http://www.omim.org/entry/615007"], "synonym_kw": ["BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4; IBGC4", "Basal Ganglia Calcification, Idiopathic, type 4", "IBGC4"], "synonym_std": ["BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4; IBGC4", "Basal Ganglia Calcification, Idiopathic, type 4", "IBGC4"], "label": ["Basal Ganglia Calcification, Idiopathic, 4", "Basal ganglia calcification, idiopathic, 4"], "definition_eng": ["Idiopathic basal ganglia calcification-4 is an autosomal dominant condition characterized by the accumulation of calcium deposits in various brain regions, most commonly in the basal ganglia. About half of mutation carriers are asymptomatic, but some present later in life with parkinsonism and impaired cognitive function. Migraine or depression may occur in younger individuals (summary by {1:Nicolas et al., 2013}).\n\nFor a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (OMIM:213600).", "See http://www.omim.org/entry/615007"], "equivalent_curie_std": ["UMLS:C3554321"], "category": ["disease"]}, {"synonym": ["merrf"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK1520", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK1520", "label_eng": ["MERRF"], "definition_std": ["MERRF (myoclonic epilepsy with ragged red fibers) is a multisystem disorder characterized by myoclonus (often the first symptom) followed by generalized epilepsy, ataxia, weakness, and dementia. Onset is usually in childhood, occurring after normal early development. Common findings are hearing loss, short stature, optic atrophy, and cardiomyopathy with Wolff-Parkinson-White (WPW) syndrome. Pigmentary retinopathy and lipomatosis are occasionally observed. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1520]"], "id_eng": "GeneReviews:NBK1520", "definition_kw": ["MERRF (myoclonic epilepsy with ragged red fibers) is a multisystem disorder characterized by myoclonus (often the first symptom) followed by generalized epilepsy, ataxia, weakness, and dementia. Onset is usually in childhood, occurring after normal early development. Common findings are hearing loss, short stature, optic atrophy, and cardiomyopathy with Wolff-Parkinson-White (WPW) syndrome. Pigmentary retinopathy and lipomatosis are occasionally observed. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1520]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK1520", "label_std": ["MERRF"], "synonym_eng": ["merrf"], "score": 14.960119, "id_kw": "GeneReviews:NBK1520", "label_kw": ["MERRF"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK1520", "_version_": 1580845510699253760, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK1520", "id": "GeneReviews:NBK1520", "definition": ["MERRF (myoclonic epilepsy with ragged red fibers) is a multisystem disorder characterized by myoclonus (often the first symptom) followed by generalized epilepsy, ataxia, weakness, and dementia. Onset is usually in childhood, occurring after normal early development. Common findings are hearing loss, short stature, optic atrophy, and cardiomyopathy with Wolff-Parkinson-White (WPW) syndrome. Pigmentary retinopathy and lipomatosis are occasionally observed. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1520]"], "synonym_kw": ["merrf"], "synonym_std": ["merrf"], "label": ["MERRF"], "definition_eng": ["MERRF (myoclonic epilepsy with ragged red fibers) is a multisystem disorder characterized by myoclonus (often the first symptom) followed by generalized epilepsy, ataxia, weakness, and dementia. Onset is usually in childhood, occurring after normal early development. Common findings are hearing loss, short stature, optic atrophy, and cardiomyopathy with Wolff-Parkinson-White (WPW) syndrome. Pigmentary retinopathy and lipomatosis are occasionally observed. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1520]"], "category": ["disease"]}, {"synonym": ["als-ftd"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK268647", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK268647", "label_eng": ["C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia"], "definition_std": ["C9orf72-related amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is characterized by: Motor neuron disease, including upper or lower motor neuron dysfunction (or both) that may or may not fulfill criteria for the ALS phenotype;  Frontotemporal lobar degeneration (FTLD), including progressive changes in behavior, executive dysfunction, and/or language impairment; and  Some degree of parkinsonism (typically of the akinetic-rigid type without tremor that is levodopa unresponsive).  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK268647]"], "id_eng": "GeneReviews:NBK268647", "definition_kw": ["C9orf72-related amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is characterized by: Motor neuron disease, including upper or lower motor neuron dysfunction (or both) that may or may not fulfill criteria for the ALS phenotype;  Frontotemporal lobar degeneration (FTLD), including progressive changes in behavior, executive dysfunction, and/or language impairment; and  Some degree of parkinsonism (typically of the akinetic-rigid type without tremor that is levodopa unresponsive).  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK268647]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK268647", "label_std": ["C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia"], "synonym_eng": ["als-ftd"], "score": 14.960119, "id_kw": "GeneReviews:NBK268647", "label_kw": ["C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK268647", "_version_": 1580845511471005696, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK268647", "id": "GeneReviews:NBK268647", "definition": ["C9orf72-related amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is characterized by: Motor neuron disease, including upper or lower motor neuron dysfunction (or both) that may or may not fulfill criteria for the ALS phenotype;  Frontotemporal lobar degeneration (FTLD), including progressive changes in behavior, executive dysfunction, and/or language impairment; and  Some degree of parkinsonism (typically of the akinetic-rigid type without tremor that is levodopa unresponsive).  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK268647]"], "synonym_kw": ["als-ftd"], "synonym_std": ["als-ftd"], "label": ["C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia"], "definition_eng": ["C9orf72-related amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is characterized by: Motor neuron disease, including upper or lower motor neuron dysfunction (or both) that may or may not fulfill criteria for the ALS phenotype;  Frontotemporal lobar degeneration (FTLD), including progressive changes in behavior, executive dysfunction, and/or language impairment; and  Some degree of parkinsonism (typically of the akinetic-rigid type without tremor that is levodopa unresponsive).  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK268647]"], "category": ["disease"]}, {"synonym": ["Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset", "Ferritin-related neurodegeneration", "Adult basal ganglia disease", "Hereditary Ferritinopathy", "Neurodegeneration With Brain Iron Accumulation 3", "NBIA3", "Neuroferritinopathy", "Basal Ganglia Disease, Adult-Onset", "Hereditary ferritinopathy", "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3", "Neurodegeneration With Brain Iron Accumulation type 3", "Ferritin-Related Neurodegeneration", "neurodegeneration with brain iron accumulation type 3"], "equivalent_curie_eng": ["Orphanet:157846", "UMLS:C1853578", "MESH:C548080", "DOID:0110737"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:606159", "iri": "http://purl.obolibrary.org/obo/OMIM_606159", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_157846", "http://purl.obolibrary.org/obo/UMLS_C1853578", "http://purl.obolibrary.org/obo/MESH_C548080", "http://purl.obolibrary.org/obo/DOID_0110737"], "label_eng": ["neurodegeneration with brain iron accumulation 3", "Neurodegeneration With Brain Iron Accumulation 3", "Neuroferritinopathy"], "definition_std": ["Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, cognitive involvement, and mode of inheritance is variable (review by {6:Gregory et al., 2009}).", "Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits."], "id_eng": "OMIM:606159", "definition_kw": ["Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, cognitive involvement, and mode of inheritance is variable (review by {6:Gregory et al., 2009}).", "Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_157846", "http://purl.obolibrary.org/obo/UMLS_C1853578", "http://purl.obolibrary.org/obo/MESH_C548080", "http://purl.obolibrary.org/obo/DOID_0110737"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_606159", "label_std": ["neurodegeneration with brain iron accumulation 3", "Neurodegeneration With Brain Iron Accumulation 3", "Neuroferritinopathy"], "equivalent_curie": ["Orphanet:157846", "UMLS:C1853578", "MESH:C548080", "DOID:0110737"], "equivalent_curie_kw": ["Orphanet:157846", "UMLS:C1853578", "MESH:C548080", "DOID:0110737"], "synonym_eng": ["Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset", "Ferritin-related neurodegeneration", "Adult basal ganglia disease", "Hereditary Ferritinopathy", "Neurodegeneration With Brain Iron Accumulation 3", "NBIA3", "Neuroferritinopathy", "Basal Ganglia Disease, Adult-Onset", "Hereditary ferritinopathy", "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3", "Neurodegeneration With Brain Iron Accumulation type 3", "Ferritin-Related Neurodegeneration", "neurodegeneration with brain iron accumulation type 3"], "score": 14.960119, "id_kw": "OMIM:606159", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_157846", "http://purl.obolibrary.org/obo/UMLS_C1853578", "http://purl.obolibrary.org/obo/MESH_C548080", "http://purl.obolibrary.org/obo/DOID_0110737"], "label_kw": ["neurodegeneration with brain iron accumulation 3", "Neurodegeneration With Brain Iron Accumulation 3", "Neuroferritinopathy"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_606159", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_157846", "http://purl.obolibrary.org/obo/UMLS_C1853578", "http://purl.obolibrary.org/obo/MESH_C548080", "http://purl.obolibrary.org/obo/DOID_0110737"], "_version_": 1580845511633534976, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_606159", "id": "OMIM:606159", "definition": ["Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, cognitive involvement, and mode of inheritance is variable (review by {6:Gregory et al., 2009}).", "Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits."], "synonym_kw": ["Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset", "Ferritin-related neurodegeneration", "Adult basal ganglia disease", "Hereditary Ferritinopathy", "Neurodegeneration With Brain Iron Accumulation 3", "NBIA3", "Neuroferritinopathy", "Basal Ganglia Disease, Adult-Onset", "Hereditary ferritinopathy", "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3", "Neurodegeneration With Brain Iron Accumulation type 3", "Ferritin-Related Neurodegeneration", "neurodegeneration with brain iron accumulation type 3"], "synonym_std": ["Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset", "Ferritin-related neurodegeneration", "Adult basal ganglia disease", "Hereditary Ferritinopathy", "Neurodegeneration With Brain Iron Accumulation 3", "NBIA3", "Neuroferritinopathy", "Basal Ganglia Disease, Adult-Onset", "Hereditary ferritinopathy", "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3", "Neurodegeneration With Brain Iron Accumulation type 3", "Ferritin-Related Neurodegeneration", "neurodegeneration with brain iron accumulation type 3"], "label": ["neurodegeneration with brain iron accumulation 3", "Neurodegeneration With Brain Iron Accumulation 3", "Neuroferritinopathy"], "definition_eng": ["Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, cognitive involvement, and mode of inheritance is variable (review by {6:Gregory et al., 2009}).", "Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits."], "equivalent_curie_std": ["Orphanet:157846", "UMLS:C1853578", "MESH:C548080", "DOID:0110737"], "category": ["disease"]}, {"synonym": ["sca2"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK1275", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK1275", "label_eng": ["Spinocerebellar Ataxia Type 2"], "definition_std": ["Spinocerebellar ataxia type 2 (SCA2) is characterized by progressive cerebellar ataxia, including nystagmus, slow saccadic eye movements and, in some individuals, ophthalmoparesis or parkinsonism. Pyramidal findings are present; deep tendon reflexes are brisk early on and absent later in the course. Age of onset is typically in the fourth decade with a ten- to 15-year disease duration. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1275]"], "id_eng": "GeneReviews:NBK1275", "definition_kw": ["Spinocerebellar ataxia type 2 (SCA2) is characterized by progressive cerebellar ataxia, including nystagmus, slow saccadic eye movements and, in some individuals, ophthalmoparesis or parkinsonism. Pyramidal findings are present; deep tendon reflexes are brisk early on and absent later in the course. Age of onset is typically in the fourth decade with a ten- to 15-year disease duration. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1275]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK1275", "label_std": ["Spinocerebellar Ataxia Type 2"], "synonym_eng": ["sca2"], "score": 14.960119, "id_kw": "GeneReviews:NBK1275", "label_kw": ["Spinocerebellar Ataxia Type 2"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK1275", "_version_": 1580845511651360768, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK1275", "id": "GeneReviews:NBK1275", "definition": ["Spinocerebellar ataxia type 2 (SCA2) is characterized by progressive cerebellar ataxia, including nystagmus, slow saccadic eye movements and, in some individuals, ophthalmoparesis or parkinsonism. Pyramidal findings are present; deep tendon reflexes are brisk early on and absent later in the course. Age of onset is typically in the fourth decade with a ten- to 15-year disease duration. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1275]"], "synonym_kw": ["sca2"], "synonym_std": ["sca2"], "label": ["Spinocerebellar Ataxia Type 2"], "definition_eng": ["Spinocerebellar ataxia type 2 (SCA2) is characterized by progressive cerebellar ataxia, including nystagmus, slow saccadic eye movements and, in some individuals, ophthalmoparesis or parkinsonism. Pyramidal findings are present; deep tendon reflexes are brisk early on and absent later in the course. Age of onset is typically in the fourth decade with a ten- to 15-year disease duration. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1275]"], "category": ["disease"]}, {"synonym": ["sca14"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK1399", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK1399", "label_eng": ["Spinocerebellar Ataxia Type 14"], "definition_std": ["Spinocerebellar ataxia type 14 (SCA14) is characterized by slowly progressive cerebellar ataxia, dysarthria, and nystagmus. Axial myoclonus, cognitive impairment, tremor, and sensory loss may also be observed. Parkinsonian features including rigidity and tremor have been described in some families. Findings seen in other ataxia disorders (e.g., dysphagia, dysphonia) may also occur in SCA14. Age of onset ranges from childhood to the sixth decade. Life span is not shortened.  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1399]"], "id_eng": "GeneReviews:NBK1399", "definition_kw": ["Spinocerebellar ataxia type 14 (SCA14) is characterized by slowly progressive cerebellar ataxia, dysarthria, and nystagmus. Axial myoclonus, cognitive impairment, tremor, and sensory loss may also be observed. Parkinsonian features including rigidity and tremor have been described in some families. Findings seen in other ataxia disorders (e.g., dysphagia, dysphonia) may also occur in SCA14. Age of onset ranges from childhood to the sixth decade. Life span is not shortened.  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1399]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK1399", "label_std": ["Spinocerebellar Ataxia Type 14"], "synonym_eng": ["sca14"], "score": 14.960119, "id_kw": "GeneReviews:NBK1399", "label_kw": ["Spinocerebellar Ataxia Type 14"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK1399", "_version_": 1580845512333983744, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK1399", "id": "GeneReviews:NBK1399", "definition": ["Spinocerebellar ataxia type 14 (SCA14) is characterized by slowly progressive cerebellar ataxia, dysarthria, and nystagmus. Axial myoclonus, cognitive impairment, tremor, and sensory loss may also be observed. Parkinsonian features including rigidity and tremor have been described in some families. Findings seen in other ataxia disorders (e.g., dysphagia, dysphonia) may also occur in SCA14. Age of onset ranges from childhood to the sixth decade. Life span is not shortened.  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1399]"], "synonym_kw": ["sca14"], "synonym_std": ["sca14"], "label": ["Spinocerebellar Ataxia Type 14"], "definition_eng": ["Spinocerebellar ataxia type 14 (SCA14) is characterized by slowly progressive cerebellar ataxia, dysarthria, and nystagmus. Axial myoclonus, cognitive impairment, tremor, and sensory loss may also be observed. Parkinsonian features including rigidity and tremor have been described in some families. Findings seen in other ataxia disorders (e.g., dysphagia, dysphonia) may also occur in SCA14. Age of onset ranges from childhood to the sixth decade. Life span is not shortened.  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1399]"], "category": ["disease"]}, {"synonym": ["LHON plus disease"], "equivalent_curie_eng": ["UMLS:CN207347"], "leaf": false, "category_std": ["disease"], "id_std": "Orphanet:99718", "iri": "http://www.orpha.net/ORDO/Orphanet_99718", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_CN207347"], "label_eng": ["Leber plus disease"], "definition_std": ["Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations."], "id_eng": "Orphanet:99718", "definition_kw": ["Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_CN207347"], "category_kw": ["disease"], "iri_eng": "http://www.orpha.net/ORDO/Orphanet_99718", "label_std": ["Leber plus disease"], "equivalent_curie": ["UMLS:CN207347"], "equivalent_curie_kw": ["UMLS:CN207347"], "synonym_eng": ["LHON plus disease"], "score": 14.960119, "id_kw": "Orphanet:99718", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_CN207347"], "label_kw": ["Leber plus disease"], "iri_kw": "http://www.orpha.net/ORDO/Orphanet_99718", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_CN207347"], "_version_": 1580845512669528064, "category_eng": ["disease"], "iri_std": "http://www.orpha.net/ORDO/Orphanet_99718", "id": "Orphanet:99718", "definition": ["Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations."], "synonym_kw": ["LHON plus disease"], "synonym_std": ["LHON plus disease"], "label": ["Leber plus disease"], "definition_eng": ["Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations."], "equivalent_curie_std": ["UMLS:CN207347"], "category": ["disease"]}, {"synonym": ["Degeneration, Striatonigral", "Atrophy, Striatonigral", "Striatonigral Atrophy", "Striatonigral Atrophies", "Atrophies, Striatonigral", "Striatonigral Degenerations"], "equivalent_curie_eng": ["UMLS:C0270733", "MESH:D020955"], "leaf": false, "category_std": ["disease"], "id_std": "DOID:4751", "iri": "http://purl.obolibrary.org/obo/DOID_4751", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C0270733", "http://purl.obolibrary.org/obo/MESH_D020955"], "label_eng": ["striatonigral degeneration"], "definition_std": ["A sporadic neurodegenerative disease with onset in middle-age characterized clinically by Parkinsonian features (e.g., MUSCLE RIGIDITY; HYPOKINESIA; stooped posture) and HYPOTENSION. This condition is considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Pathologic features include a prominent loss of neurons in the zona compacta of the SUBSTANTIA NIGRA and PUTAMEN. (From Adams et al., Principles of Neurology, 6th ed, p1075-6)"], "id_eng": "DOID:4751", "definition_kw": ["A sporadic neurodegenerative disease with onset in middle-age characterized clinically by Parkinsonian features (e.g., MUSCLE RIGIDITY; HYPOKINESIA; stooped posture) and HYPOTENSION. This condition is considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Pathologic features include a prominent loss of neurons in the zona compacta of the SUBSTANTIA NIGRA and PUTAMEN. (From Adams et al., Principles of Neurology, 6th ed, p1075-6)"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C0270733", "http://purl.obolibrary.org/obo/MESH_D020955"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/DOID_4751", "label_std": ["striatonigral degeneration"], "equivalent_curie": ["UMLS:C0270733", "MESH:D020955"], "equivalent_curie_kw": ["UMLS:C0270733", "MESH:D020955"], "synonym_eng": ["Degeneration, Striatonigral", "Atrophy, Striatonigral", "Striatonigral Atrophy", "Striatonigral Atrophies", "Atrophies, Striatonigral", "Striatonigral Degenerations"], "score": 14.960119, "id_kw": "DOID:4751", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C0270733", "http://purl.obolibrary.org/obo/MESH_D020955"], "label_kw": ["striatonigral degeneration"], "iri_kw": "http://purl.obolibrary.org/obo/DOID_4751", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C0270733", "http://purl.obolibrary.org/obo/MESH_D020955"], "_version_": 1580845594614693888, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/DOID_4751", "id": "DOID:4751", "definition": ["A sporadic neurodegenerative disease with onset in middle-age characterized clinically by Parkinsonian features (e.g., MUSCLE RIGIDITY; HYPOKINESIA; stooped posture) and HYPOTENSION. This condition is considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Pathologic features include a prominent loss of neurons in the zona compacta of the SUBSTANTIA NIGRA and PUTAMEN. (From Adams et al., Principles of Neurology, 6th ed, p1075-6)"], "synonym_kw": ["Degeneration, Striatonigral", "Atrophy, Striatonigral", "Striatonigral Atrophy", "Striatonigral Atrophies", "Atrophies, Striatonigral", "Striatonigral Degenerations"], "synonym_std": ["Degeneration, Striatonigral", "Atrophy, Striatonigral", "Striatonigral Atrophy", "Striatonigral Atrophies", "Atrophies, Striatonigral", "Striatonigral Degenerations"], "label": ["striatonigral degeneration"], "definition_eng": ["A sporadic neurodegenerative disease with onset in middle-age characterized clinically by Parkinsonian features (e.g., MUSCLE RIGIDITY; HYPOKINESIA; stooped posture) and HYPOTENSION. This condition is considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Pathologic features include a prominent loss of neurons in the zona compacta of the SUBSTANTIA NIGRA and PUTAMEN. (From Adams et al., Principles of Neurology, 6th ed, p1075-6)"], "equivalent_curie_std": ["UMLS:C0270733", "MESH:D020955"], "category": ["disease"]}, {"synonym": ["ftdp-17"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK1505", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK1505", "label_eng": ["MAPT-Related Disorders"], "definition_std": ["The clinical manifestations of MAPT-related disorders (MAPT-related tauopathies) are most typically those of frontotemporal dementia (FTDP-17), but also include progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), mild late-onset parkinsonism, and dementia with epilepsy. Clinical presentation of frontotemporal dementia (FTD) is variable: some present with slowly progressive behavioral changes, language disturbances, and/or extrapyramidal signs, whereas others present with rigidity, bradykinesia, supranuclear palsy, and saccadic eye movement disorders. Onset is usually between ages 40 and 60 years, but may be earlier or later. The disease progresses over a few years into profound dementia with mutism. PSP is characterized by progressive vertical gaze palsy in combination with a prominent loss of balance at early stages of the disease. With progression, axial rigidity, dysarthria, and dysphagia become prominent, often in combination with a frontal dysexecutive syndrome. CBD is a progressive neurodegenerative disorder which affects both the frontoparietal cortex and the basal ganglia, resulting in a mild to moderate dementia in combination with asymmetric parkinsonism, ideomotor apraxia, aphasia, and an alien-hand syndrome. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1505]"], "id_eng": "GeneReviews:NBK1505", "definition_kw": ["The clinical manifestations of MAPT-related disorders (MAPT-related tauopathies) are most typically those of frontotemporal dementia (FTDP-17), but also include progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), mild late-onset parkinsonism, and dementia with epilepsy. Clinical presentation of frontotemporal dementia (FTD) is variable: some present with slowly progressive behavioral changes, language disturbances, and/or extrapyramidal signs, whereas others present with rigidity, bradykinesia, supranuclear palsy, and saccadic eye movement disorders. Onset is usually between ages 40 and 60 years, but may be earlier or later. The disease progresses over a few years into profound dementia with mutism. PSP is characterized by progressive vertical gaze palsy in combination with a prominent loss of balance at early stages of the disease. With progression, axial rigidity, dysarthria, and dysphagia become prominent, often in combination with a frontal dysexecutive syndrome. CBD is a progressive neurodegenerative disorder which affects both the frontoparietal cortex and the basal ganglia, resulting in a mild to moderate dementia in combination with asymmetric parkinsonism, ideomotor apraxia, aphasia, and an alien-hand syndrome. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1505]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK1505", "label_std": ["MAPT-Related Disorders"], "synonym_eng": ["ftdp-17"], "score": 14.895244, "id_kw": "GeneReviews:NBK1505", "label_kw": ["MAPT-Related Disorders"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK1505", "_version_": 1580845510659407873, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK1505", "id": "GeneReviews:NBK1505", "definition": ["The clinical manifestations of MAPT-related disorders (MAPT-related tauopathies) are most typically those of frontotemporal dementia (FTDP-17), but also include progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), mild late-onset parkinsonism, and dementia with epilepsy. Clinical presentation of frontotemporal dementia (FTD) is variable: some present with slowly progressive behavioral changes, language disturbances, and/or extrapyramidal signs, whereas others present with rigidity, bradykinesia, supranuclear palsy, and saccadic eye movement disorders. Onset is usually between ages 40 and 60 years, but may be earlier or later. The disease progresses over a few years into profound dementia with mutism. PSP is characterized by progressive vertical gaze palsy in combination with a prominent loss of balance at early stages of the disease. With progression, axial rigidity, dysarthria, and dysphagia become prominent, often in combination with a frontal dysexecutive syndrome. CBD is a progressive neurodegenerative disorder which affects both the frontoparietal cortex and the basal ganglia, resulting in a mild to moderate dementia in combination with asymmetric parkinsonism, ideomotor apraxia, aphasia, and an alien-hand syndrome. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1505]"], "synonym_kw": ["ftdp-17"], "synonym_std": ["ftdp-17"], "label": ["MAPT-Related Disorders"], "definition_eng": ["The clinical manifestations of MAPT-related disorders (MAPT-related tauopathies) are most typically those of frontotemporal dementia (FTDP-17), but also include progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), mild late-onset parkinsonism, and dementia with epilepsy. Clinical presentation of frontotemporal dementia (FTD) is variable: some present with slowly progressive behavioral changes, language disturbances, and/or extrapyramidal signs, whereas others present with rigidity, bradykinesia, supranuclear palsy, and saccadic eye movement disorders. Onset is usually between ages 40 and 60 years, but may be earlier or later. The disease progresses over a few years into profound dementia with mutism. PSP is characterized by progressive vertical gaze palsy in combination with a prominent loss of balance at early stages of the disease. With progression, axial rigidity, dysarthria, and dysphagia become prominent, often in combination with a frontal dysexecutive syndrome. CBD is a progressive neurodegenerative disorder which affects both the frontoparietal cortex and the basal ganglia, resulting in a mild to moderate dementia in combination with asymmetric parkinsonism, ideomotor apraxia, aphasia, and an alien-hand syndrome. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1505]"], "category": ["disease"]}, {"synonym": ["ftd-grn"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK1371", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK1371", "label_eng": ["GRN-Related Frontotemporal Dementia"], "definition_std": ["The spectrum of frontotemporal dementia associated with GRN (also known as PGRN) mutation (FTD-GRN or FTD-PGRN) includes the behavioral variant (FTD-bv), primary progressive aphasia (PPA; further sub-categorized as progressive non-fluent aphasia [PNFA] and semantic dementia [SD]), and movement disorders with extrapyramidal features such as parkinsonism and corticobasal syndrome. A broad range of clinical features both within and across families is observed. The age of onset ranges from 35 to 87 years. Behavioral disturbances are the most common early feature, followed by progressive aphasia. Impairment in executive function manifests as loss of judgment and insight. In early stages, PPA often manifests as deficits in naming, word finding, or word comprehension. In late stages, affected individuals often become mute and lose their ability to communicate. Early findings of parkinsonism include rigidity, bradykinesia or akinesia (slowing or absence of movements), limb dystonia, apraxia (loss of ability to carry out learned purposeful movements), and disequilibrium. Late motor findings may include myoclonus, dysarthria, and dysphagia. Most affected individuals eventually lose the ability to walk. Disease duration is three to 12 years. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1371]"], "id_eng": "GeneReviews:NBK1371", "definition_kw": ["The spectrum of frontotemporal dementia associated with GRN (also known as PGRN) mutation (FTD-GRN or FTD-PGRN) includes the behavioral variant (FTD-bv), primary progressive aphasia (PPA; further sub-categorized as progressive non-fluent aphasia [PNFA] and semantic dementia [SD]), and movement disorders with extrapyramidal features such as parkinsonism and corticobasal syndrome. A broad range of clinical features both within and across families is observed. The age of onset ranges from 35 to 87 years. Behavioral disturbances are the most common early feature, followed by progressive aphasia. Impairment in executive function manifests as loss of judgment and insight. In early stages, PPA often manifests as deficits in naming, word finding, or word comprehension. In late stages, affected individuals often become mute and lose their ability to communicate. Early findings of parkinsonism include rigidity, bradykinesia or akinesia (slowing or absence of movements), limb dystonia, apraxia (loss of ability to carry out learned purposeful movements), and disequilibrium. Late motor findings may include myoclonus, dysarthria, and dysphagia. Most affected individuals eventually lose the ability to walk. Disease duration is three to 12 years. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1371]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK1371", "label_std": ["GRN-Related Frontotemporal Dementia"], "synonym_eng": ["ftd-grn"], "score": 14.895244, "id_kw": "GeneReviews:NBK1371", "label_kw": ["GRN-Related Frontotemporal Dementia"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK1371", "_version_": 1580845511838007296, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK1371", "id": "GeneReviews:NBK1371", "definition": ["The spectrum of frontotemporal dementia associated with GRN (also known as PGRN) mutation (FTD-GRN or FTD-PGRN) includes the behavioral variant (FTD-bv), primary progressive aphasia (PPA; further sub-categorized as progressive non-fluent aphasia [PNFA] and semantic dementia [SD]), and movement disorders with extrapyramidal features such as parkinsonism and corticobasal syndrome. A broad range of clinical features both within and across families is observed. The age of onset ranges from 35 to 87 years. Behavioral disturbances are the most common early feature, followed by progressive aphasia. Impairment in executive function manifests as loss of judgment and insight. In early stages, PPA often manifests as deficits in naming, word finding, or word comprehension. In late stages, affected individuals often become mute and lose their ability to communicate. Early findings of parkinsonism include rigidity, bradykinesia or akinesia (slowing or absence of movements), limb dystonia, apraxia (loss of ability to carry out learned purposeful movements), and disequilibrium. Late motor findings may include myoclonus, dysarthria, and dysphagia. Most affected individuals eventually lose the ability to walk. Disease duration is three to 12 years. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1371]"], "synonym_kw": ["ftd-grn"], "synonym_std": ["ftd-grn"], "label": ["GRN-Related Frontotemporal Dementia"], "definition_eng": ["The spectrum of frontotemporal dementia associated with GRN (also known as PGRN) mutation (FTD-GRN or FTD-PGRN) includes the behavioral variant (FTD-bv), primary progressive aphasia (PPA; further sub-categorized as progressive non-fluent aphasia [PNFA] and semantic dementia [SD]), and movement disorders with extrapyramidal features such as parkinsonism and corticobasal syndrome. A broad range of clinical features both within and across families is observed. The age of onset ranges from 35 to 87 years. Behavioral disturbances are the most common early feature, followed by progressive aphasia. Impairment in executive function manifests as loss of judgment and insight. In early stages, PPA often manifests as deficits in naming, word finding, or word comprehension. In late stages, affected individuals often become mute and lose their ability to communicate. Early findings of parkinsonism include rigidity, bradykinesia or akinesia (slowing or absence of movements), limb dystonia, apraxia (loss of ability to carry out learned purposeful movements), and disequilibrium. Late motor findings may include myoclonus, dysarthria, and dysphagia. Most affected individuals eventually lose the ability to walk. Disease duration is three to 12 years. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1371]"], "category": ["disease"]}, {"synonym": ["nbia-ov"], "leaf": true, "category_std": ["disease"], "id_std": "GeneReviews:NBK121988", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK121988", "label_eng": ["Neurodegeneration with Brain Iron Accumulation Disorders Overview"], "definition_std": ["Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurologic disorders in which iron accumulates in the basal ganglia resulting in progressive dystonia, spasticity, parkinsonism, neuropsychiatric abnormalities, and optic atrophy or retinal degeneration. Ten types and their associated genes are recognized. The age of onset ranges from infancy to late adulthood; the rate of progression varies. Cognitive decline occurs in some subtypes, but more often cognition is relatively spared. Cerebellar atrophy is a frequent finding in some subtypes.  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK121988]"], "id_eng": "GeneReviews:NBK121988", "definition_kw": ["Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurologic disorders in which iron accumulates in the basal ganglia resulting in progressive dystonia, spasticity, parkinsonism, neuropsychiatric abnormalities, and optic atrophy or retinal degeneration. Ten types and their associated genes are recognized. The age of onset ranges from infancy to late adulthood; the rate of progression varies. Cognitive decline occurs in some subtypes, but more often cognition is relatively spared. Cerebellar atrophy is a frequent finding in some subtypes.  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK121988]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK121988", "label_std": ["Neurodegeneration with Brain Iron Accumulation Disorders Overview"], "synonym_eng": ["nbia-ov"], "score": 13.690872, "id_kw": "GeneReviews:NBK121988", "label_kw": ["Neurodegeneration with Brain Iron Accumulation Disorders Overview"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK121988", "_version_": 1580845510107856896, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK121988", "id": "GeneReviews:NBK121988", "definition": ["Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurologic disorders in which iron accumulates in the basal ganglia resulting in progressive dystonia, spasticity, parkinsonism, neuropsychiatric abnormalities, and optic atrophy or retinal degeneration. Ten types and their associated genes are recognized. The age of onset ranges from infancy to late adulthood; the rate of progression varies. Cognitive decline occurs in some subtypes, but more often cognition is relatively spared. Cerebellar atrophy is a frequent finding in some subtypes.  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK121988]"], "synonym_kw": ["nbia-ov"], "synonym_std": ["nbia-ov"], "label": ["Neurodegeneration with Brain Iron Accumulation Disorders Overview"], "definition_eng": ["Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurologic disorders in which iron accumulates in the basal ganglia resulting in progressive dystonia, spasticity, parkinsonism, neuropsychiatric abnormalities, and optic atrophy or retinal degeneration. Ten types and their associated genes are recognized. The age of onset ranges from infancy to late adulthood; the rate of progression varies. Cognitive decline occurs in some subtypes, but more often cognition is relatively spared. Cerebellar atrophy is a frequent finding in some subtypes.  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK121988]"], "category": ["disease"]}, {"synonym": ["HYPERMANGANESEMIA WITH DYSTONIA 2; HMNDYT2", "Hypermanganesemia with Dystonia 2", "HMNDYT2", "Hypermanganesemia with Dystonia type 2"], "equivalent_curie_eng": ["UMLS:CN237172"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:617013", "iri": "http://purl.obolibrary.org/obo/OMIM_617013", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_CN237172"], "label_eng": ["Hypermanganesemia with Dystonia 2; HMNDYT2", "Hypermanganesemia With Dystonia 2", "Hypermanganesemia with dystonia 2"], "definition_std": ["Hypermanganesemia with dystonia-2 is an autosomal recessive neurodegenerative disorder characterized predominantly by loss of motor milestones in the first years of life. Affected individuals then develop rapidly progressive abnormal movements, including dystonia, spasticity, bulbar dysfunction, and variable features of parkinsonism, causing loss of ambulation. Cognition may be impaired, but is better preserved than motor function. The disorder results from abnormal accumulation of manganese (Mn), which is toxic to neurons. Chelation therapy, if started early, may provide clinical benefit (summary by {1:Tuschl et al., 2016}).\n\nFor a discussion of genetic heterogeneity of HMNDYT, see HMNDYT1 (OMIM:613280)."], "id_eng": "OMIM:617013", "definition_kw": ["Hypermanganesemia with dystonia-2 is an autosomal recessive neurodegenerative disorder characterized predominantly by loss of motor milestones in the first years of life. Affected individuals then develop rapidly progressive abnormal movements, including dystonia, spasticity, bulbar dysfunction, and variable features of parkinsonism, causing loss of ambulation. Cognition may be impaired, but is better preserved than motor function. The disorder results from abnormal accumulation of manganese (Mn), which is toxic to neurons. Chelation therapy, if started early, may provide clinical benefit (summary by {1:Tuschl et al., 2016}).\n\nFor a discussion of genetic heterogeneity of HMNDYT, see HMNDYT1 (OMIM:613280)."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_CN237172"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_617013", "label_std": ["Hypermanganesemia with Dystonia 2; HMNDYT2", "Hypermanganesemia With Dystonia 2", "Hypermanganesemia with dystonia 2"], "equivalent_curie": ["UMLS:CN237172"], "equivalent_curie_kw": ["UMLS:CN237172"], "synonym_eng": ["HYPERMANGANESEMIA WITH DYSTONIA 2; HMNDYT2", "Hypermanganesemia with Dystonia 2", "HMNDYT2", "Hypermanganesemia with Dystonia type 2"], "score": 13.690872, "id_kw": "OMIM:617013", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_CN237172"], "label_kw": ["Hypermanganesemia with Dystonia 2; HMNDYT2", "Hypermanganesemia With Dystonia 2", "Hypermanganesemia with dystonia 2"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_617013", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_CN237172"], "_version_": 1580845510414041088, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_617013", "id": "OMIM:617013", "definition": ["Hypermanganesemia with dystonia-2 is an autosomal recessive neurodegenerative disorder characterized predominantly by loss of motor milestones in the first years of life. Affected individuals then develop rapidly progressive abnormal movements, including dystonia, spasticity, bulbar dysfunction, and variable features of parkinsonism, causing loss of ambulation. Cognition may be impaired, but is better preserved than motor function. The disorder results from abnormal accumulation of manganese (Mn), which is toxic to neurons. Chelation therapy, if started early, may provide clinical benefit (summary by {1:Tuschl et al., 2016}).\n\nFor a discussion of genetic heterogeneity of HMNDYT, see HMNDYT1 (OMIM:613280)."], "synonym_kw": ["HYPERMANGANESEMIA WITH DYSTONIA 2; HMNDYT2", "Hypermanganesemia with Dystonia 2", "HMNDYT2", "Hypermanganesemia with Dystonia type 2"], "synonym_std": ["HYPERMANGANESEMIA WITH DYSTONIA 2; HMNDYT2", "Hypermanganesemia with Dystonia 2", "HMNDYT2", "Hypermanganesemia with Dystonia type 2"], "label": ["Hypermanganesemia with Dystonia 2; HMNDYT2", "Hypermanganesemia With Dystonia 2", "Hypermanganesemia with dystonia 2"], "definition_eng": ["Hypermanganesemia with dystonia-2 is an autosomal recessive neurodegenerative disorder characterized predominantly by loss of motor milestones in the first years of life. Affected individuals then develop rapidly progressive abnormal movements, including dystonia, spasticity, bulbar dysfunction, and variable features of parkinsonism, causing loss of ambulation. Cognition may be impaired, but is better preserved than motor function. The disorder results from abnormal accumulation of manganese (Mn), which is toxic to neurons. Chelation therapy, if started early, may provide clinical benefit (summary by {1:Tuschl et al., 2016}).\n\nFor a discussion of genetic heterogeneity of HMNDYT, see HMNDYT1 (OMIM:613280)."], "equivalent_curie_std": ["UMLS:CN237172"], "category": ["disease"]}, {"synonym": ["hd-l2"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK1529", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK1529", "label_eng": ["Huntington Disease-Like 2"], "definition_std": ["Huntington disease-like 2 (HDL2) typically presents in midlife with a relentless progressive triad of movement, emotional, and cognitive abnormalities progressing to death over ten to 20 years. In some individuals the presentation resembles juvenile-onset Huntington disease (HD) or the Westphal variant of HD, usually presenting in the fourth decade (ages 29 to 41 years) with diminished coordination and weight loss despite increase in food intake. Neurologic abnormalities include parkinsonism (rigidity, bradykinesia, tremor), dysarthria, and hyperreflexia. In others the presentation is more variable but, in general, corresponds to typical HD.  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1529]"], "id_eng": "GeneReviews:NBK1529", "definition_kw": ["Huntington disease-like 2 (HDL2) typically presents in midlife with a relentless progressive triad of movement, emotional, and cognitive abnormalities progressing to death over ten to 20 years. In some individuals the presentation resembles juvenile-onset Huntington disease (HD) or the Westphal variant of HD, usually presenting in the fourth decade (ages 29 to 41 years) with diminished coordination and weight loss despite increase in food intake. Neurologic abnormalities include parkinsonism (rigidity, bradykinesia, tremor), dysarthria, and hyperreflexia. In others the presentation is more variable but, in general, corresponds to typical HD.  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1529]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK1529", "label_std": ["Huntington Disease-Like 2"], "synonym_eng": ["hd-l2"], "score": 13.690872, "id_kw": "GeneReviews:NBK1529", "label_kw": ["Huntington Disease-Like 2"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK1529", "_version_": 1580845510712885248, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK1529", "id": "GeneReviews:NBK1529", "definition": ["Huntington disease-like 2 (HDL2) typically presents in midlife with a relentless progressive triad of movement, emotional, and cognitive abnormalities progressing to death over ten to 20 years. In some individuals the presentation resembles juvenile-onset Huntington disease (HD) or the Westphal variant of HD, usually presenting in the fourth decade (ages 29 to 41 years) with diminished coordination and weight loss despite increase in food intake. Neurologic abnormalities include parkinsonism (rigidity, bradykinesia, tremor), dysarthria, and hyperreflexia. In others the presentation is more variable but, in general, corresponds to typical HD.  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1529]"], "synonym_kw": ["hd-l2"], "synonym_std": ["hd-l2"], "label": ["Huntington Disease-Like 2"], "definition_eng": ["Huntington disease-like 2 (HDL2) typically presents in midlife with a relentless progressive triad of movement, emotional, and cognitive abnormalities progressing to death over ten to 20 years. In some individuals the presentation resembles juvenile-onset Huntington disease (HD) or the Westphal variant of HD, usually presenting in the fourth decade (ages 29 to 41 years) with diminished coordination and weight loss despite increase in food intake. Neurologic abnormalities include parkinsonism (rigidity, bradykinesia, tremor), dysarthria, and hyperreflexia. In others the presentation is more variable but, in general, corresponds to typical HD.  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1529]"], "category": ["disease"]}, {"synonym": ["Leukoencephalopathy, Diffuse Hereditary, With Spheroids", "Subcortical gliosis of Neumann", "POLD", "ALSP", "Autosomal dominant leukoencephalopathy with neuroaxonal spheroids", "Familial progressive subcortical gliosis", "GPSC", "Leukoencephalopathy with Neuroaxonal Spheroids, Autosomal Dominant", "LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS; HDLS", "Gliosis, Familial Progressive Subcortical", "Neuroaxonal Leukodystrophy", "Subcortical Gliosis of Neumann", "Pigmentary orthochromatic leukodystrophy", "HDLS", "LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS; HDLS", "Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia", "Hereditary diffuse leukoencephalopathy with spheroids", "Leukoencephalopathy With Neuroaxonal Spheroids, Autosomal Dominant", "Familial dementia, Neumann type", "Dementia, Familial, Neumann Type", "Adult-Onset Leukodystrophy with Neuroaxonal Spheroids", "Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids", "Leukoencephalopathy, Adult-Onset, With Axonal Spheroids and Pigmented Glia", "Autosomal Dominant Leukoencephalopathy with Neuroaxonal Spheroids", "FPSG"], "equivalent_curie_eng": ["Orphanet:313808", "UMLS:C3711381", "UMLS:C2673753", "UMLS:C1857300", "UMLS:C0520789", "MESH:C580150"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:221820", "iri": "http://purl.obolibrary.org/obo/OMIM_221820", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_313808", "http://purl.obolibrary.org/obo/UMLS_C3711381", "http://purl.obolibrary.org/obo/UMLS_C2673753", "http://purl.obolibrary.org/obo/UMLS_C1857300", "http://purl.obolibrary.org/obo/UMLS_C0520789", "http://purl.obolibrary.org/obo/MESH_C580150"], "label_eng": ["Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia", "Hereditary diffuse leukoencephalopathy with spheroids", "Leukoencephalopathy, Hereditary Diffuse, With Spheroids"], "definition_std": ["Hereditary diffuse leukoencephalopathy with spheroids is an autosomal dominant adult-onset rapidly progressive neurodegenerative disorder characterized by variable behavioral, cognitive, and motor changes. Patients often die of dementia within 6 years of onset. Brain imaging shows patchy abnormalities in the cerebral white matter, predominantly affecting the frontal and parietal lobes (summary by {10:Rademakers et al., 2012}).", "Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy."], "id_eng": "OMIM:221820", "definition_kw": ["Hereditary diffuse leukoencephalopathy with spheroids is an autosomal dominant adult-onset rapidly progressive neurodegenerative disorder characterized by variable behavioral, cognitive, and motor changes. Patients often die of dementia within 6 years of onset. Brain imaging shows patchy abnormalities in the cerebral white matter, predominantly affecting the frontal and parietal lobes (summary by {10:Rademakers et al., 2012}).", "Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_313808", "http://purl.obolibrary.org/obo/UMLS_C3711381", "http://purl.obolibrary.org/obo/UMLS_C2673753", "http://purl.obolibrary.org/obo/UMLS_C1857300", "http://purl.obolibrary.org/obo/UMLS_C0520789", "http://purl.obolibrary.org/obo/MESH_C580150"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_221820", "label_std": ["Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia", "Hereditary diffuse leukoencephalopathy with spheroids", "Leukoencephalopathy, Hereditary Diffuse, With Spheroids"], "equivalent_curie": ["Orphanet:313808", "UMLS:C3711381", "UMLS:C2673753", "UMLS:C1857300", "UMLS:C0520789", "MESH:C580150"], "equivalent_curie_kw": ["Orphanet:313808", "UMLS:C3711381", "UMLS:C2673753", "UMLS:C1857300", "UMLS:C0520789", "MESH:C580150"], "synonym_eng": ["Leukoencephalopathy, Diffuse Hereditary, With Spheroids", "Subcortical gliosis of Neumann", "POLD", "ALSP", "Autosomal dominant leukoencephalopathy with neuroaxonal spheroids", "Familial progressive subcortical gliosis", "GPSC", "Leukoencephalopathy with Neuroaxonal Spheroids, Autosomal Dominant", "LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS; HDLS", "Gliosis, Familial Progressive Subcortical", "Neuroaxonal Leukodystrophy", "Subcortical Gliosis of Neumann", "Pigmentary orthochromatic leukodystrophy", "HDLS", "LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS; HDLS", "Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia", "Hereditary diffuse leukoencephalopathy with spheroids", "Leukoencephalopathy With Neuroaxonal Spheroids, Autosomal Dominant", "Familial dementia, Neumann type", "Dementia, Familial, Neumann Type", "Adult-Onset Leukodystrophy with Neuroaxonal Spheroids", "Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids", "Leukoencephalopathy, Adult-Onset, With Axonal Spheroids and Pigmented Glia", "Autosomal Dominant Leukoencephalopathy with Neuroaxonal Spheroids", "FPSG"], "score": 13.690872, "id_kw": "OMIM:221820", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_313808", "http://purl.obolibrary.org/obo/UMLS_C3711381", "http://purl.obolibrary.org/obo/UMLS_C2673753", "http://purl.obolibrary.org/obo/UMLS_C1857300", "http://purl.obolibrary.org/obo/UMLS_C0520789", "http://purl.obolibrary.org/obo/MESH_C580150"], "label_kw": ["Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia", "Hereditary diffuse leukoencephalopathy with spheroids", "Leukoencephalopathy, Hereditary Diffuse, With Spheroids"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_221820", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_313808", "http://purl.obolibrary.org/obo/UMLS_C3711381", "http://purl.obolibrary.org/obo/UMLS_C2673753", "http://purl.obolibrary.org/obo/UMLS_C1857300", "http://purl.obolibrary.org/obo/UMLS_C0520789", "http://purl.obolibrary.org/obo/MESH_C580150"], "_version_": 1580845510785236992, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_221820", "id": "OMIM:221820", "definition": ["Hereditary diffuse leukoencephalopathy with spheroids is an autosomal dominant adult-onset rapidly progressive neurodegenerative disorder characterized by variable behavioral, cognitive, and motor changes. Patients often die of dementia within 6 years of onset. Brain imaging shows patchy abnormalities in the cerebral white matter, predominantly affecting the frontal and parietal lobes (summary by {10:Rademakers et al., 2012}).", "Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy."], "synonym_kw": ["Leukoencephalopathy, Diffuse Hereditary, With Spheroids", "Subcortical gliosis of Neumann", "POLD", "ALSP", "Autosomal dominant leukoencephalopathy with neuroaxonal spheroids", "Familial progressive subcortical gliosis", "GPSC", "Leukoencephalopathy with Neuroaxonal Spheroids, Autosomal Dominant", "LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS; HDLS", "Gliosis, Familial Progressive Subcortical", "Neuroaxonal Leukodystrophy", "Subcortical Gliosis of Neumann", "Pigmentary orthochromatic leukodystrophy", "HDLS", "LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS; HDLS", "Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia", "Hereditary diffuse leukoencephalopathy with spheroids", "Leukoencephalopathy With Neuroaxonal Spheroids, Autosomal Dominant", "Familial dementia, Neumann type", "Dementia, Familial, Neumann Type", "Adult-Onset Leukodystrophy with Neuroaxonal Spheroids", "Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids", "Leukoencephalopathy, Adult-Onset, With Axonal Spheroids and Pigmented Glia", "Autosomal Dominant Leukoencephalopathy with Neuroaxonal Spheroids", "FPSG"], "synonym_std": ["Leukoencephalopathy, Diffuse Hereditary, With Spheroids", "Subcortical gliosis of Neumann", "POLD", "ALSP", "Autosomal dominant leukoencephalopathy with neuroaxonal spheroids", "Familial progressive subcortical gliosis", "GPSC", "Leukoencephalopathy with Neuroaxonal Spheroids, Autosomal Dominant", "LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS; HDLS", "Gliosis, Familial Progressive Subcortical", "Neuroaxonal Leukodystrophy", "Subcortical Gliosis of Neumann", "Pigmentary orthochromatic leukodystrophy", "HDLS", "LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS; HDLS", "Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia", "Hereditary diffuse leukoencephalopathy with spheroids", "Leukoencephalopathy With Neuroaxonal Spheroids, Autosomal Dominant", "Familial dementia, Neumann type", "Dementia, Familial, Neumann Type", "Adult-Onset Leukodystrophy with Neuroaxonal Spheroids", "Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids", "Leukoencephalopathy, Adult-Onset, With Axonal Spheroids and Pigmented Glia", "Autosomal Dominant Leukoencephalopathy with Neuroaxonal Spheroids", "FPSG"], "label": ["Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia", "Hereditary diffuse leukoencephalopathy with spheroids", "Leukoencephalopathy, Hereditary Diffuse, With Spheroids"], "definition_eng": ["Hereditary diffuse leukoencephalopathy with spheroids is an autosomal dominant adult-onset rapidly progressive neurodegenerative disorder characterized by variable behavioral, cognitive, and motor changes. Patients often die of dementia within 6 years of onset. Brain imaging shows patchy abnormalities in the cerebral white matter, predominantly affecting the frontal and parietal lobes (summary by {10:Rademakers et al., 2012}).", "Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy."], "equivalent_curie_std": ["Orphanet:313808", "UMLS:C3711381", "UMLS:C2673753", "UMLS:C1857300", "UMLS:C0520789", "MESH:C580150"], "category": ["disease"]}, {"synonym": ["IBGC6", "Basal Ganglia Calcification, Idiopathic, type 6", "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6; IBGC6"], "equivalent_curie_eng": ["UMLS:C4225335"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:616413", "iri": "http://purl.obolibrary.org/obo/OMIM_616413", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C4225335"], "label_eng": ["Basal Ganglia Calcification, Idiopathic, 6", "Basal ganglia calcification, idiopathic, 6"], "definition_std": ["Idiopathic basal ganglia calcification is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive neuropsychiatric and movement disorders, although some patients remain asymptomatic. Clinical features can include dystonia, parkinsonism, gait abnormalities, psychosis, dementia, and chorea. Brain imaging shows calcifications of the basal ganglia and other brain regions (summary by {3:Legati et al., 2015}).\n\nFor a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (OMIM:213600).", "See http://www.omim.org/entry/616413"], "id_eng": "OMIM:616413", "definition_kw": ["Idiopathic basal ganglia calcification is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive neuropsychiatric and movement disorders, although some patients remain asymptomatic. Clinical features can include dystonia, parkinsonism, gait abnormalities, psychosis, dementia, and chorea. Brain imaging shows calcifications of the basal ganglia and other brain regions (summary by {3:Legati et al., 2015}).\n\nFor a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (OMIM:213600).", "See http://www.omim.org/entry/616413"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C4225335"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_616413", "label_std": ["Basal Ganglia Calcification, Idiopathic, 6", "Basal ganglia calcification, idiopathic, 6"], "equivalent_curie": ["UMLS:C4225335"], "equivalent_curie_kw": ["UMLS:C4225335"], "synonym_eng": ["IBGC6", "Basal Ganglia Calcification, Idiopathic, type 6", "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6; IBGC6"], "score": 13.690872, "id_kw": "OMIM:616413", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C4225335"], "label_kw": ["Basal Ganglia Calcification, Idiopathic, 6", "Basal ganglia calcification, idiopathic, 6"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_616413", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C4225335"], "_version_": 1580845511179501568, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_616413", "id": "OMIM:616413", "definition": ["Idiopathic basal ganglia calcification is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive neuropsychiatric and movement disorders, although some patients remain asymptomatic. Clinical features can include dystonia, parkinsonism, gait abnormalities, psychosis, dementia, and chorea. Brain imaging shows calcifications of the basal ganglia and other brain regions (summary by {3:Legati et al., 2015}).\n\nFor a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (OMIM:213600).", "See http://www.omim.org/entry/616413"], "synonym_kw": ["IBGC6", "Basal Ganglia Calcification, Idiopathic, type 6", "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6; IBGC6"], "synonym_std": ["IBGC6", "Basal Ganglia Calcification, Idiopathic, type 6", "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6; IBGC6"], "label": ["Basal Ganglia Calcification, Idiopathic, 6", "Basal ganglia calcification, idiopathic, 6"], "definition_eng": ["Idiopathic basal ganglia calcification is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive neuropsychiatric and movement disorders, although some patients remain asymptomatic. Clinical features can include dystonia, parkinsonism, gait abnormalities, psychosis, dementia, and chorea. Brain imaging shows calcifications of the basal ganglia and other brain regions (summary by {3:Legati et al., 2015}).\n\nFor a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (OMIM:213600).", "See http://www.omim.org/entry/616413"], "equivalent_curie_std": ["UMLS:C4225335"], "category": ["disease"]}, {"synonym": ["spg11"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK1210", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK1210", "label_eng": ["Spastic Paraplegia 11"], "definition_std": ["Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. Less frequent findings include: cerebellar signs (ataxia, nystagmus, saccadic pursuit); retinal degeneration; pes cavus; scoliosis; and parkinsonism. Onset occurs mainly during infancy or adolescence (range: age 1-31 years). Most affected individuals become wheelchair bound one or two decades after disease onset. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1210]"], "id_eng": "GeneReviews:NBK1210", "definition_kw": ["Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. Less frequent findings include: cerebellar signs (ataxia, nystagmus, saccadic pursuit); retinal degeneration; pes cavus; scoliosis; and parkinsonism. Onset occurs mainly during infancy or adolescence (range: age 1-31 years). Most affected individuals become wheelchair bound one or two decades after disease onset. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1210]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK1210", "label_std": ["Spastic Paraplegia 11"], "synonym_eng": ["spg11"], "score": 13.690872, "id_kw": "GeneReviews:NBK1210", "label_kw": ["Spastic Paraplegia 11"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK1210", "_version_": 1580845511230881793, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK1210", "id": "GeneReviews:NBK1210", "definition": ["Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. Less frequent findings include: cerebellar signs (ataxia, nystagmus, saccadic pursuit); retinal degeneration; pes cavus; scoliosis; and parkinsonism. Onset occurs mainly during infancy or adolescence (range: age 1-31 years). Most affected individuals become wheelchair bound one or two decades after disease onset. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1210]"], "synonym_kw": ["spg11"], "synonym_std": ["spg11"], "label": ["Spastic Paraplegia 11"], "definition_eng": ["Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. Less frequent findings include: cerebellar signs (ataxia, nystagmus, saccadic pursuit); retinal degeneration; pes cavus; scoliosis; and parkinsonism. Onset occurs mainly during infancy or adolescence (range: age 1-31 years). Most affected individuals become wheelchair bound one or two decades after disease onset. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1210]"], "category": ["disease"]}, {"leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0006150", "iri": "http://purl.obolibrary.org/obo/HP_0006150", "label_eng": ["Swan neck-like deformities of the fingers"], "definition_std": ["A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke."], "id_eng": "HP:0006150", "definition_kw": ["A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0006150", "label_std": ["Swan neck-like deformities of the fingers"], "score": 13.690872, "id_kw": "HP:0006150", "label_kw": ["Swan neck-like deformities of the fingers"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0006150", "_version_": 1580845592564727808, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0006150", "id": "HP:0006150", "definition": ["A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke."], "label": ["Swan neck-like deformities of the fingers"], "definition_eng": ["A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke."], "category": ["Phenotype"]}, {"synonym": ["autosomal recessive spastic paraplegia type 48", "hereditary spastic paraplegia type 48", "SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE; SPG48", "SPG48", "autosomal recessive spastic paraplegia 48"], "equivalent_curie_eng": ["UMLS:C3150901", "Orphanet:306511", "DOID:0110800"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:613647", "iri": "http://purl.obolibrary.org/obo/OMIM_613647", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3150901", "http://www.orpha.net/ORDO/Orphanet_306511", "http://purl.obolibrary.org/obo/DOID_0110800"], "label_eng": ["Spastic paraplegia 48, autosomal recessive", "Spastic Paraplegia 48, Autosomal Recessive", "hereditary spastic paraplegia 48"], "definition_std": ["Spastic paraplegia-48 is an autosomal recessive neurologic disorder characterized by spasticity of the lower limbs resulting in gait difficulties. Most patients have onset in mid- or late-adulthood, although childhood onset has been reported in 1 patient. Additional features may include parkinsonism, urinary incontinence, neuropathy, and mild cognitive impairment (summary by {1:Hirst et al., 2015}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (OMIM:270800).", "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1."], "id_eng": "OMIM:613647", "definition_kw": ["Spastic paraplegia-48 is an autosomal recessive neurologic disorder characterized by spasticity of the lower limbs resulting in gait difficulties. Most patients have onset in mid- or late-adulthood, although childhood onset has been reported in 1 patient. Additional features may include parkinsonism, urinary incontinence, neuropathy, and mild cognitive impairment (summary by {1:Hirst et al., 2015}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (OMIM:270800).", "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3150901", "http://www.orpha.net/ORDO/Orphanet_306511", "http://purl.obolibrary.org/obo/DOID_0110800"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_613647", "label_std": ["Spastic paraplegia 48, autosomal recessive", "Spastic Paraplegia 48, Autosomal Recessive", "hereditary spastic paraplegia 48"], "equivalent_curie": ["UMLS:C3150901", "Orphanet:306511", "DOID:0110800"], "equivalent_curie_kw": ["UMLS:C3150901", "Orphanet:306511", "DOID:0110800"], "synonym_eng": ["autosomal recessive spastic paraplegia type 48", "hereditary spastic paraplegia type 48", "SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE; SPG48", "SPG48", "autosomal recessive spastic paraplegia 48"], "score": 13.690872, "id_kw": "OMIM:613647", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3150901", "http://www.orpha.net/ORDO/Orphanet_306511", "http://purl.obolibrary.org/obo/DOID_0110800"], "label_kw": ["Spastic paraplegia 48, autosomal recessive", "Spastic Paraplegia 48, Autosomal Recessive", "hereditary spastic paraplegia 48"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_613647", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3150901", "http://www.orpha.net/ORDO/Orphanet_306511", "http://purl.obolibrary.org/obo/DOID_0110800"], "_version_": 1580845543921287169, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_613647", "id": "OMIM:613647", "definition": ["Spastic paraplegia-48 is an autosomal recessive neurologic disorder characterized by spasticity of the lower limbs resulting in gait difficulties. Most patients have onset in mid- or late-adulthood, although childhood onset has been reported in 1 patient. Additional features may include parkinsonism, urinary incontinence, neuropathy, and mild cognitive impairment (summary by {1:Hirst et al., 2015}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (OMIM:270800).", "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1."], "synonym_kw": ["autosomal recessive spastic paraplegia type 48", "hereditary spastic paraplegia type 48", "SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE; SPG48", "SPG48", "autosomal recessive spastic paraplegia 48"], "synonym_std": ["autosomal recessive spastic paraplegia type 48", "hereditary spastic paraplegia type 48", "SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE; SPG48", "SPG48", "autosomal recessive spastic paraplegia 48"], "label": ["Spastic paraplegia 48, autosomal recessive", "Spastic Paraplegia 48, Autosomal Recessive", "hereditary spastic paraplegia 48"], "definition_eng": ["Spastic paraplegia-48 is an autosomal recessive neurologic disorder characterized by spasticity of the lower limbs resulting in gait difficulties. Most patients have onset in mid- or late-adulthood, although childhood onset has been reported in 1 patient. Additional features may include parkinsonism, urinary incontinence, neuropathy, and mild cognitive impairment (summary by {1:Hirst et al., 2015}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (OMIM:270800).", "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1."], "equivalent_curie_std": ["UMLS:C3150901", "Orphanet:306511", "DOID:0110800"], "category": ["disease"]}, {"synonym": ["Lewy Body Dementia", "Lewy Body Disease, Cortical", "Lewy Body Disease, Diffuse", "Lewy Body Type Senile Dementia", "Dementia, Lewy Body", "Diffuse Lewy Body Disease", "Cortical Lewy Body Disease"], "equivalent_curie_eng": ["UMLS:C4020711", "UMLS:C0752347"], "leaf": false, "category_std": ["disease"], "id_std": "MESH:D020961", "iri": "http://purl.obolibrary.org/obo/MESH_D020961", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C4020711", "http://purl.obolibrary.org/obo/UMLS_C0752347"], "label_eng": ["Lewy Body Disease"], "definition_std": ["A neurodegenerative disease characterized by dementia, mild parkinsonism, and fluctuations in attention and alertness. The neuropsychiatric manifestations tend to precede the onset of bradykinesia, MUSCLE RIGIDITY, and other extrapyramidal signs. DELUSIONS and visual HALLUCINATIONS are relatively frequent in this condition. Histologic examination reveals LEWY BODIES in the CEREBRAL CORTEX and BRAIN STEM. SENILE PLAQUES and other pathologic features characteristic of ALZHEIMER DISEASE may also be present. (From Neurology 1997;48:376-380; Neurology 1996;47:1113-1124)"], "id_eng": "MESH:D020961", "definition_kw": ["A neurodegenerative disease characterized by dementia, mild parkinsonism, and fluctuations in attention and alertness. The neuropsychiatric manifestations tend to precede the onset of bradykinesia, MUSCLE RIGIDITY, and other extrapyramidal signs. DELUSIONS and visual HALLUCINATIONS are relatively frequent in this condition. Histologic examination reveals LEWY BODIES in the CEREBRAL CORTEX and BRAIN STEM. SENILE PLAQUES and other pathologic features characteristic of ALZHEIMER DISEASE may also be present. (From Neurology 1997;48:376-380; Neurology 1996;47:1113-1124)"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C4020711", "http://purl.obolibrary.org/obo/UMLS_C0752347"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/MESH_D020961", "label_std": ["Lewy Body Disease"], "equivalent_curie": ["UMLS:C4020711", "UMLS:C0752347"], "equivalent_curie_kw": ["UMLS:C4020711", "UMLS:C0752347"], "synonym_eng": ["Lewy Body Dementia", "Lewy Body Disease, Cortical", "Lewy Body Disease, Diffuse", "Lewy Body Type Senile Dementia", "Dementia, Lewy Body", "Diffuse Lewy Body Disease", "Cortical Lewy Body Disease"], "score": 13.690872, "id_kw": "MESH:D020961", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C4020711", "http://purl.obolibrary.org/obo/UMLS_C0752347"], "label_kw": ["Lewy Body Disease"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_D020961", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C4020711", "http://purl.obolibrary.org/obo/UMLS_C0752347"], "_version_": 1580845554713231362, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/MESH_D020961", "id": "MESH:D020961", "definition": ["A neurodegenerative disease characterized by dementia, mild parkinsonism, and fluctuations in attention and alertness. The neuropsychiatric manifestations tend to precede the onset of bradykinesia, MUSCLE RIGIDITY, and other extrapyramidal signs. DELUSIONS and visual HALLUCINATIONS are relatively frequent in this condition. Histologic examination reveals LEWY BODIES in the CEREBRAL CORTEX and BRAIN STEM. SENILE PLAQUES and other pathologic features characteristic of ALZHEIMER DISEASE may also be present. (From Neurology 1997;48:376-380; Neurology 1996;47:1113-1124)"], "synonym_kw": ["Lewy Body Dementia", "Lewy Body Disease, Cortical", "Lewy Body Disease, Diffuse", "Lewy Body Type Senile Dementia", "Dementia, Lewy Body", "Diffuse Lewy Body Disease", "Cortical Lewy Body Disease"], "synonym_std": ["Lewy Body Dementia", "Lewy Body Disease, Cortical", "Lewy Body Disease, Diffuse", "Lewy Body Type Senile Dementia", "Dementia, Lewy Body", "Diffuse Lewy Body Disease", "Cortical Lewy Body Disease"], "label": ["Lewy Body Disease"], "definition_eng": ["A neurodegenerative disease characterized by dementia, mild parkinsonism, and fluctuations in attention and alertness. The neuropsychiatric manifestations tend to precede the onset of bradykinesia, MUSCLE RIGIDITY, and other extrapyramidal signs. DELUSIONS and visual HALLUCINATIONS are relatively frequent in this condition. Histologic examination reveals LEWY BODIES in the CEREBRAL CORTEX and BRAIN STEM. SENILE PLAQUES and other pathologic features characteristic of ALZHEIMER DISEASE may also be present. (From Neurology 1997;48:376-380; Neurology 1996;47:1113-1124)"], "equivalent_curie_std": ["UMLS:C4020711", "UMLS:C0752347"], "category": ["disease"]}, {"synonym": ["rapid-odp"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK1115", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK1115", "label_eng": ["ATP1A3-Related Neurologic Disorders"], "definition_std": ["The spectrum of ATP1A3-related neurologic disorders includes rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome. While early reports emphasized the distinctness of RDP and AHC, it is increasingly evident that these conditions represent a spectrum related to mutation of ATP1A3. Because only ten individuals from three families and one individual with a de novo mutation have been described with CAPOS syndrome to date, its phenotype is less defined; however, some features overlap with RDP and AHC as well.RDP is characterized by abrupt onset of dystonia with parkinsonism (primarily bradykinesia and postural instability); a clear rostrocaudal (face>arm>leg) topological gradient of involvement; bulbar involvement; and absence of response to an adequate trial of L-dopa therapy. Often fever, physiologic stress, or alcoholic binges trigger the onset of symptoms. After their initial appearance, symptoms often stabilize with little improvement; occasionally second episodes occur with abrupt worsening of symptoms. Anxiety, depression, and seizures have been reported. Age of onset is four to 55 years. AHC is a complex neurodevelopmental syndrome most frequently manifesting in infancy or early childhood with paroxysmal episodic neurologic dysfunction including alternating hemiparesis or dystonia, quadriparesis, seizure-like episodes, and oculomotor abnormalities. Episodes can last for minutes, hours, days, or even weeks. Remission of symptoms occurs with sleep and immediately after awakening. Over time, persistent neurologic deficits develop in the majority of those affected, including oculomotor apraxia, ataxia, choreoathetosis, dystonia, parkinsonism, and cognitive and behavioral dysfunction; more than 50% develop epilepsy in addition to their episodic movement disorder phenotype.  CAPOS syndrome (a mnemonic for cerebellar ataxia, areflexia, optic atrophy, and sensorineural hearing loss) is characterized by episodes of ataxic encephalopathy and/or weakness after a febrile illness. Onset is between ages six months and five years. Some acute symptoms resolve; disease progression and severity vary.  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1115]"], "id_eng": "GeneReviews:NBK1115", "definition_kw": ["The spectrum of ATP1A3-related neurologic disorders includes rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome. While early reports emphasized the distinctness of RDP and AHC, it is increasingly evident that these conditions represent a spectrum related to mutation of ATP1A3. Because only ten individuals from three families and one individual with a de novo mutation have been described with CAPOS syndrome to date, its phenotype is less defined; however, some features overlap with RDP and AHC as well.RDP is characterized by abrupt onset of dystonia with parkinsonism (primarily bradykinesia and postural instability); a clear rostrocaudal (face>arm>leg) topological gradient of involvement; bulbar involvement; and absence of response to an adequate trial of L-dopa therapy. Often fever, physiologic stress, or alcoholic binges trigger the onset of symptoms. After their initial appearance, symptoms often stabilize with little improvement; occasionally second episodes occur with abrupt worsening of symptoms. Anxiety, depression, and seizures have been reported. Age of onset is four to 55 years. AHC is a complex neurodevelopmental syndrome most frequently manifesting in infancy or early childhood with paroxysmal episodic neurologic dysfunction including alternating hemiparesis or dystonia, quadriparesis, seizure-like episodes, and oculomotor abnormalities. Episodes can last for minutes, hours, days, or even weeks. Remission of symptoms occurs with sleep and immediately after awakening. Over time, persistent neurologic deficits develop in the majority of those affected, including oculomotor apraxia, ataxia, choreoathetosis, dystonia, parkinsonism, and cognitive and behavioral dysfunction; more than 50% develop epilepsy in addition to their episodic movement disorder phenotype.  CAPOS syndrome (a mnemonic for cerebellar ataxia, areflexia, optic atrophy, and sensorineural hearing loss) is characterized by episodes of ataxic encephalopathy and/or weakness after a febrile illness. Onset is between ages six months and five years. Some acute symptoms resolve; disease progression and severity vary.  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1115]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK1115", "label_std": ["ATP1A3-Related Neurologic Disorders"], "synonym_eng": ["rapid-odp"], "score": 13.389486, "id_kw": "GeneReviews:NBK1115", "label_kw": ["ATP1A3-Related Neurologic Disorders"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK1115", "_version_": 1580845510497927168, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK1115", "id": "GeneReviews:NBK1115", "definition": ["The spectrum of ATP1A3-related neurologic disorders includes rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome. While early reports emphasized the distinctness of RDP and AHC, it is increasingly evident that these conditions represent a spectrum related to mutation of ATP1A3. Because only ten individuals from three families and one individual with a de novo mutation have been described with CAPOS syndrome to date, its phenotype is less defined; however, some features overlap with RDP and AHC as well.RDP is characterized by abrupt onset of dystonia with parkinsonism (primarily bradykinesia and postural instability); a clear rostrocaudal (face>arm>leg) topological gradient of involvement; bulbar involvement; and absence of response to an adequate trial of L-dopa therapy. Often fever, physiologic stress, or alcoholic binges trigger the onset of symptoms. After their initial appearance, symptoms often stabilize with little improvement; occasionally second episodes occur with abrupt worsening of symptoms. Anxiety, depression, and seizures have been reported. Age of onset is four to 55 years. AHC is a complex neurodevelopmental syndrome most frequently manifesting in infancy or early childhood with paroxysmal episodic neurologic dysfunction including alternating hemiparesis or dystonia, quadriparesis, seizure-like episodes, and oculomotor abnormalities. Episodes can last for minutes, hours, days, or even weeks. Remission of symptoms occurs with sleep and immediately after awakening. Over time, persistent neurologic deficits develop in the majority of those affected, including oculomotor apraxia, ataxia, choreoathetosis, dystonia, parkinsonism, and cognitive and behavioral dysfunction; more than 50% develop epilepsy in addition to their episodic movement disorder phenotype.  CAPOS syndrome (a mnemonic for cerebellar ataxia, areflexia, optic atrophy, and sensorineural hearing loss) is characterized by episodes of ataxic encephalopathy and/or weakness after a febrile illness. Onset is between ages six months and five years. Some acute symptoms resolve; disease progression and severity vary.  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1115]"], "synonym_kw": ["rapid-odp"], "synonym_std": ["rapid-odp"], "label": ["ATP1A3-Related Neurologic Disorders"], "definition_eng": ["The spectrum of ATP1A3-related neurologic disorders includes rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome. While early reports emphasized the distinctness of RDP and AHC, it is increasingly evident that these conditions represent a spectrum related to mutation of ATP1A3. Because only ten individuals from three families and one individual with a de novo mutation have been described with CAPOS syndrome to date, its phenotype is less defined; however, some features overlap with RDP and AHC as well.RDP is characterized by abrupt onset of dystonia with parkinsonism (primarily bradykinesia and postural instability); a clear rostrocaudal (face>arm>leg) topological gradient of involvement; bulbar involvement; and absence of response to an adequate trial of L-dopa therapy. Often fever, physiologic stress, or alcoholic binges trigger the onset of symptoms. After their initial appearance, symptoms often stabilize with little improvement; occasionally second episodes occur with abrupt worsening of symptoms. Anxiety, depression, and seizures have been reported. Age of onset is four to 55 years. AHC is a complex neurodevelopmental syndrome most frequently manifesting in infancy or early childhood with paroxysmal episodic neurologic dysfunction including alternating hemiparesis or dystonia, quadriparesis, seizure-like episodes, and oculomotor abnormalities. Episodes can last for minutes, hours, days, or even weeks. Remission of symptoms occurs with sleep and immediately after awakening. Over time, persistent neurologic deficits develop in the majority of those affected, including oculomotor apraxia, ataxia, choreoathetosis, dystonia, parkinsonism, and cognitive and behavioral dysfunction; more than 50% develop epilepsy in addition to their episodic movement disorder phenotype.  CAPOS syndrome (a mnemonic for cerebellar ataxia, areflexia, optic atrophy, and sensorineural hearing loss) is characterized by episodes of ataxic encephalopathy and/or weakness after a febrile illness. Onset is between ages six months and five years. Some acute symptoms resolve; disease progression and severity vary.  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1115]"], "category": ["disease"]}, {"synonym": ["TNRC15", "GGYF2_HUMAN", "GRB10 interacting GYF protein 2", "PERQ amino acid-rich with GYF domain-containing protein 2", "trinucleotide repeat-containing gene 15 protein", "GIGYF2", "GRB10-interacting GYF protein 2", "PARK11", "KIAA0642", "Parkinson disease (autosomal recessive, early onset) 11", "PERQ3", "PERQ2", "PERQ amino acid rich, with GYF domain 3", "GYF2"], "equivalent_curie_eng": ["HGNC:11960", "OMIM:612003", "ENSEMBL:ENSG00000204120", "KEGG-hsa:26058"], "taxon_kw": "NCBITaxon:9606", "leaf": true, "category_std": ["gene"], "id_std": "NCBIGene:26058", "iri": "http://www.ncbi.nlm.nih.gov/gene/26058", "taxon_label_synonym_eng": ["Human", "man", "human", "humans"], "taxon_label_synonym_kw": ["Human", "man", "human", "humans"], "equivalent_iri_kw": ["http://identifiers.org/hgnc/HGNC:11960", "http://purl.obolibrary.org/obo/OMIM_612003", "http://identifiers.org/ensembl/ENSG00000204120", "http://www.kegg.jp/dbget-bin/www_bget?hsa:26058"], "label_eng": ["GIGYF2"], "equivalent_curie_std": ["HGNC:11960", "OMIM:612003", "ENSEMBL:ENSG00000204120", "KEGG-hsa:26058"], "id_eng": "NCBIGene:26058", "taxon_label_synonym_std": ["Human", "man", "human", "humans"], "taxon_std": "NCBITaxon:9606", "equivalent_iri_std": ["http://identifiers.org/hgnc/HGNC:11960", "http://purl.obolibrary.org/obo/OMIM_612003", "http://identifiers.org/ensembl/ENSG00000204120", "http://www.kegg.jp/dbget-bin/www_bget?hsa:26058"], "category_kw": ["gene"], "taxon_label_synonym": ["Human", "man", "human", "humans"], "equivalent_curie_kw": ["HGNC:11960", "OMIM:612003", "ENSEMBL:ENSG00000204120", "KEGG-hsa:26058"], "taxon_label_std": "Homo sapiens", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/26058", "label_std": ["GIGYF2"], "taxon_label_kw": "Homo sapiens", "synonym_eng": ["TNRC15", "GGYF2_HUMAN", "GRB10 interacting GYF protein 2", "PERQ amino acid-rich with GYF domain-containing protein 2", "trinucleotide repeat-containing gene 15 protein", "GIGYF2", "GRB10-interacting GYF protein 2", "PARK11", "KIAA0642", "Parkinson disease (autosomal recessive, early onset) 11", "PERQ3", "PERQ2", "PERQ amino acid rich, with GYF domain 3", "GYF2"], "equivalent_curie": ["HGNC:11960", "OMIM:612003", "ENSEMBL:ENSG00000204120", "KEGG-hsa:26058"], "taxon_label_eng": "Homo sapiens", "taxon": "NCBITaxon:9606", "taxon_label": "Homo sapiens", "id_kw": "NCBIGene:26058", "equivalent_iri_eng": ["http://identifiers.org/hgnc/HGNC:11960", "http://purl.obolibrary.org/obo/OMIM_612003", "http://identifiers.org/ensembl/ENSG00000204120", "http://www.kegg.jp/dbget-bin/www_bget?hsa:26058"], "label_kw": ["GIGYF2"], "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/26058", "equivalent_iri": ["http://identifiers.org/hgnc/HGNC:11960", "http://purl.obolibrary.org/obo/OMIM_612003", "http://identifiers.org/ensembl/ENSG00000204120", "http://www.kegg.jp/dbget-bin/www_bget?hsa:26058"], "taxon_eng": "NCBITaxon:9606", "_version_": 1580845531098251264, "category_eng": ["gene"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/26058", "id": "NCBIGene:26058", "synonym_kw": ["TNRC15", "GGYF2_HUMAN", "GRB10 interacting GYF protein 2", "PERQ amino acid-rich with GYF domain-containing protein 2", "trinucleotide repeat-containing gene 15 protein", "GIGYF2", "GRB10-interacting GYF protein 2", "PARK11", "KIAA0642", "Parkinson disease (autosomal recessive, early onset) 11", "PERQ3", "PERQ2", "PERQ amino acid rich, with GYF domain 3", "GYF2"], "synonym_std": ["TNRC15", "GGYF2_HUMAN", "GRB10 interacting GYF protein 2", "PERQ amino acid-rich with GYF domain-containing protein 2", "trinucleotide repeat-containing gene 15 protein", "GIGYF2", "GRB10-interacting GYF protein 2", "PARK11", "KIAA0642", "Parkinson disease (autosomal recessive, early onset) 11", "PERQ3", "PERQ2", "PERQ amino acid rich, with GYF domain 3", "GYF2"], "label": ["GIGYF2"], "score": 12.677649, "category": ["gene"]}, {"synonym": ["SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10", "autosomal dominant spastic paraplegia 10", "autosomal dominant spastic paraplegia type 10", "hereditary spastic paraplegia type 10", "SPG10", "Spastic Paraplegia 10 With or Without Peripheral Neuropathy", "Autosomal dominant spastic paraplegia"], "equivalent_curie_eng": ["Orphanet:100991", "UMLS:C1858712", "DOID:0110763", "MESH:C537482"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:604187", "iri": "http://purl.obolibrary.org/obo/OMIM_604187", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_100991", "http://purl.obolibrary.org/obo/UMLS_C1858712", "http://purl.obolibrary.org/obo/DOID_0110763", "http://purl.obolibrary.org/obo/MESH_C537482"], "label_eng": ["Spastic Paraplegia 10, Autosomal Dominant", "hereditary spastic paraplegia 10", "Spastic paraplegia 10"], "definition_std": ["Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.", "Spastic paraplegia-10 is an autosomal dominant neurologic disorder with variable manifestations. Some patients have onset of a 'pure' spastic paraplegia, with lower limb spasticity, hyperreflexia, extensor plantar responses, and variable involvement of the upper limbs beginning in childhood or young adulthood. Some patients show distal sensory impairment, which can be part of the 'pure' phenotype. However, some patients also show an axonal sensorimotor peripheral neuropathy with distal sensory impairment and distal muscle atrophy reminiscent of Charcot-Marie-Tooth disease type 2 (see, e.g., CMT2A, OMIM:118210). Rarely, patients with KIF5A mutations may have additional neurologic features, including parkinsonism or cognitive decline, consistent with a 'complicated' phenotype. Spastic paraplegia and peripheral neuropathy in isolation may represent extreme ends of the phenotypic spectrum of KIF5A mutations (summary by {6:Goizet et al., 2009} and {3:Crimella et al., 2012})."], "id_eng": "OMIM:604187", "definition_kw": ["Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.", "Spastic paraplegia-10 is an autosomal dominant neurologic disorder with variable manifestations. Some patients have onset of a 'pure' spastic paraplegia, with lower limb spasticity, hyperreflexia, extensor plantar responses, and variable involvement of the upper limbs beginning in childhood or young adulthood. Some patients show distal sensory impairment, which can be part of the 'pure' phenotype. However, some patients also show an axonal sensorimotor peripheral neuropathy with distal sensory impairment and distal muscle atrophy reminiscent of Charcot-Marie-Tooth disease type 2 (see, e.g., CMT2A, OMIM:118210). Rarely, patients with KIF5A mutations may have additional neurologic features, including parkinsonism or cognitive decline, consistent with a 'complicated' phenotype. Spastic paraplegia and peripheral neuropathy in isolation may represent extreme ends of the phenotypic spectrum of KIF5A mutations (summary by {6:Goizet et al., 2009} and {3:Crimella et al., 2012})."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_100991", "http://purl.obolibrary.org/obo/UMLS_C1858712", "http://purl.obolibrary.org/obo/DOID_0110763", "http://purl.obolibrary.org/obo/MESH_C537482"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_604187", "label_std": ["Spastic Paraplegia 10, Autosomal Dominant", "hereditary spastic paraplegia 10", "Spastic paraplegia 10"], "equivalent_curie": ["Orphanet:100991", "UMLS:C1858712", "DOID:0110763", "MESH:C537482"], "equivalent_curie_kw": ["Orphanet:100991", "UMLS:C1858712", "DOID:0110763", "MESH:C537482"], "synonym_eng": ["SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10", "autosomal dominant spastic paraplegia 10", "autosomal dominant spastic paraplegia type 10", "hereditary spastic paraplegia type 10", "SPG10", "Spastic Paraplegia 10 With or Without Peripheral Neuropathy", "Autosomal dominant spastic paraplegia"], "score": 12.238283, "id_kw": "OMIM:604187", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_100991", "http://purl.obolibrary.org/obo/UMLS_C1858712", "http://purl.obolibrary.org/obo/DOID_0110763", "http://purl.obolibrary.org/obo/MESH_C537482"], "label_kw": ["Spastic Paraplegia 10, Autosomal Dominant", "hereditary spastic paraplegia 10", "Spastic paraplegia 10"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_604187", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_100991", "http://purl.obolibrary.org/obo/UMLS_C1858712", "http://purl.obolibrary.org/obo/DOID_0110763", "http://purl.obolibrary.org/obo/MESH_C537482"], "_version_": 1580845545530851329, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_604187", "id": "OMIM:604187", "definition": ["Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.", "Spastic paraplegia-10 is an autosomal dominant neurologic disorder with variable manifestations. Some patients have onset of a 'pure' spastic paraplegia, with lower limb spasticity, hyperreflexia, extensor plantar responses, and variable involvement of the upper limbs beginning in childhood or young adulthood. Some patients show distal sensory impairment, which can be part of the 'pure' phenotype. However, some patients also show an axonal sensorimotor peripheral neuropathy with distal sensory impairment and distal muscle atrophy reminiscent of Charcot-Marie-Tooth disease type 2 (see, e.g., CMT2A, OMIM:118210). Rarely, patients with KIF5A mutations may have additional neurologic features, including parkinsonism or cognitive decline, consistent with a 'complicated' phenotype. Spastic paraplegia and peripheral neuropathy in isolation may represent extreme ends of the phenotypic spectrum of KIF5A mutations (summary by {6:Goizet et al., 2009} and {3:Crimella et al., 2012})."], "synonym_kw": ["SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10", "autosomal dominant spastic paraplegia 10", "autosomal dominant spastic paraplegia type 10", "hereditary spastic paraplegia type 10", "SPG10", "Spastic Paraplegia 10 With or Without Peripheral Neuropathy", "Autosomal dominant spastic paraplegia"], "synonym_std": ["SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10", "autosomal dominant spastic paraplegia 10", "autosomal dominant spastic paraplegia type 10", "hereditary spastic paraplegia type 10", "SPG10", "Spastic Paraplegia 10 With or Without Peripheral Neuropathy", "Autosomal dominant spastic paraplegia"], "label": ["Spastic Paraplegia 10, Autosomal Dominant", "hereditary spastic paraplegia 10", "Spastic paraplegia 10"], "definition_eng": ["Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.", "Spastic paraplegia-10 is an autosomal dominant neurologic disorder with variable manifestations. Some patients have onset of a 'pure' spastic paraplegia, with lower limb spasticity, hyperreflexia, extensor plantar responses, and variable involvement of the upper limbs beginning in childhood or young adulthood. Some patients show distal sensory impairment, which can be part of the 'pure' phenotype. However, some patients also show an axonal sensorimotor peripheral neuropathy with distal sensory impairment and distal muscle atrophy reminiscent of Charcot-Marie-Tooth disease type 2 (see, e.g., CMT2A, OMIM:118210). Rarely, patients with KIF5A mutations may have additional neurologic features, including parkinsonism or cognitive decline, consistent with a 'complicated' phenotype. Spastic paraplegia and peripheral neuropathy in isolation may represent extreme ends of the phenotypic spectrum of KIF5A mutations (summary by {6:Goizet et al., 2009} and {3:Crimella et al., 2012})."], "equivalent_curie_std": ["Orphanet:100991", "UMLS:C1858712", "DOID:0110763", "MESH:C537482"], "category": ["disease"]}, {"synonym": ["sca17"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK1438", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK1438", "label_eng": ["Spinocerebellar Ataxia Type 17"], "definition_std": ["Spinocerebellar ataxia type 17 (SCA17) is characterized by ataxia, dementia, and involuntary movements, including chorea and dystonia. Psychiatric symptoms, pyramidal signs, and rigidity are common. The age of onset ranges from three to 55 years. Individuals with full-penetrance alleles develop neurologic and/or psychiatric symptoms by age 50 years. Ataxia and psychiatric abnormalities are frequently the initial findings, followed by involuntary movement, parkinsonism, dementia, and pyramidal signs. Brain MRI shows variable atrophy of the cerebrum, brain stem, and cerebellum. The clinical features correlate with the length of the polyglutamine expansion but are not absolutely predictive of the clinical course. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1438]"], "id_eng": "GeneReviews:NBK1438", "definition_kw": ["Spinocerebellar ataxia type 17 (SCA17) is characterized by ataxia, dementia, and involuntary movements, including chorea and dystonia. Psychiatric symptoms, pyramidal signs, and rigidity are common. The age of onset ranges from three to 55 years. Individuals with full-penetrance alleles develop neurologic and/or psychiatric symptoms by age 50 years. Ataxia and psychiatric abnormalities are frequently the initial findings, followed by involuntary movement, parkinsonism, dementia, and pyramidal signs. Brain MRI shows variable atrophy of the cerebrum, brain stem, and cerebellum. The clinical features correlate with the length of the polyglutamine expansion but are not absolutely predictive of the clinical course. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1438]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK1438", "label_std": ["Spinocerebellar Ataxia Type 17"], "synonym_eng": ["sca17"], "score": 12.108108, "id_kw": "GeneReviews:NBK1438", "label_kw": ["Spinocerebellar Ataxia Type 17"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK1438", "_version_": 1580845509946376192, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK1438", "id": "GeneReviews:NBK1438", "definition": ["Spinocerebellar ataxia type 17 (SCA17) is characterized by ataxia, dementia, and involuntary movements, including chorea and dystonia. Psychiatric symptoms, pyramidal signs, and rigidity are common. The age of onset ranges from three to 55 years. Individuals with full-penetrance alleles develop neurologic and/or psychiatric symptoms by age 50 years. Ataxia and psychiatric abnormalities are frequently the initial findings, followed by involuntary movement, parkinsonism, dementia, and pyramidal signs. Brain MRI shows variable atrophy of the cerebrum, brain stem, and cerebellum. The clinical features correlate with the length of the polyglutamine expansion but are not absolutely predictive of the clinical course. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1438]"], "synonym_kw": ["sca17"], "synonym_std": ["sca17"], "label": ["Spinocerebellar Ataxia Type 17"], "definition_eng": ["Spinocerebellar ataxia type 17 (SCA17) is characterized by ataxia, dementia, and involuntary movements, including chorea and dystonia. Psychiatric symptoms, pyramidal signs, and rigidity are common. The age of onset ranges from three to 55 years. Individuals with full-penetrance alleles develop neurologic and/or psychiatric symptoms by age 50 years. Ataxia and psychiatric abnormalities are frequently the initial findings, followed by involuntary movement, parkinsonism, dementia, and pyramidal signs. Brain MRI shows variable atrophy of the cerebrum, brain stem, and cerebellum. The clinical features correlate with the length of the polyglutamine expansion but are not absolutely predictive of the clinical course. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1438]"], "category": ["disease"]}, {"synonym": ["spr-def"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK304122", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK304122", "label_eng": ["Sepiapterin Reductase Deficiency"], "definition_std": ["The phenotypic spectrum of sepiapterin reductase deficiency (SRD), which ranges from significant motor and cognitive deficits to only minimal findings, has not been completely elucidated. Clinical features in the majority of affected individuals include motor and speech delay, axial hypotonia, dystonia, weakness, and oculogyric crises; symptoms show diurnal fluctuation and sleep benefit. Other common features include parkinsonian signs (tremor, bradykinesia, masked facies, rigidity), limb hypertonia, hyperreflexia, intellectual disability, psychiatric and/or behavioral abnormalities, autonomic dysfunction, and sleep disturbances (hypersomnolence, difficulty initiating or maintaining sleep, and drowsiness). Most affected individuals have nonspecific features in infancy including developmental delays and axial hypotonia; other features develop over time. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK304122]"], "id_eng": "GeneReviews:NBK304122", "definition_kw": ["The phenotypic spectrum of sepiapterin reductase deficiency (SRD), which ranges from significant motor and cognitive deficits to only minimal findings, has not been completely elucidated. Clinical features in the majority of affected individuals include motor and speech delay, axial hypotonia, dystonia, weakness, and oculogyric crises; symptoms show diurnal fluctuation and sleep benefit. Other common features include parkinsonian signs (tremor, bradykinesia, masked facies, rigidity), limb hypertonia, hyperreflexia, intellectual disability, psychiatric and/or behavioral abnormalities, autonomic dysfunction, and sleep disturbances (hypersomnolence, difficulty initiating or maintaining sleep, and drowsiness). Most affected individuals have nonspecific features in infancy including developmental delays and axial hypotonia; other features develop over time. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK304122]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK304122", "label_std": ["Sepiapterin Reductase Deficiency"], "synonym_eng": ["spr-def"], "score": 12.108108, "id_kw": "GeneReviews:NBK304122", "label_kw": ["Sepiapterin Reductase Deficiency"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK304122", "_version_": 1580845510553501696, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK304122", "id": "GeneReviews:NBK304122", "definition": ["The phenotypic spectrum of sepiapterin reductase deficiency (SRD), which ranges from significant motor and cognitive deficits to only minimal findings, has not been completely elucidated. Clinical features in the majority of affected individuals include motor and speech delay, axial hypotonia, dystonia, weakness, and oculogyric crises; symptoms show diurnal fluctuation and sleep benefit. Other common features include parkinsonian signs (tremor, bradykinesia, masked facies, rigidity), limb hypertonia, hyperreflexia, intellectual disability, psychiatric and/or behavioral abnormalities, autonomic dysfunction, and sleep disturbances (hypersomnolence, difficulty initiating or maintaining sleep, and drowsiness). Most affected individuals have nonspecific features in infancy including developmental delays and axial hypotonia; other features develop over time. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK304122]"], "synonym_kw": ["spr-def"], "synonym_std": ["spr-def"], "label": ["Sepiapterin Reductase Deficiency"], "definition_eng": ["The phenotypic spectrum of sepiapterin reductase deficiency (SRD), which ranges from significant motor and cognitive deficits to only minimal findings, has not been completely elucidated. Clinical features in the majority of affected individuals include motor and speech delay, axial hypotonia, dystonia, weakness, and oculogyric crises; symptoms show diurnal fluctuation and sleep benefit. Other common features include parkinsonian signs (tremor, bradykinesia, masked facies, rigidity), limb hypertonia, hyperreflexia, intellectual disability, psychiatric and/or behavioral abnormalities, autonomic dysfunction, and sleep disturbances (hypersomnolence, difficulty initiating or maintaining sleep, and drowsiness). Most affected individuals have nonspecific features in infancy including developmental delays and axial hypotonia; other features develop over time. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK304122]"], "category": ["disease"]}, {"synonym": ["BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5; IBGC5", "IBGC5", "Basal Ganglia Calcification, Idiopathic, type 5"], "equivalent_curie_eng": ["UMLS:C3809645"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:615483", "iri": "http://purl.obolibrary.org/obo/OMIM_615483", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3809645"], "label_eng": ["Idiopathic basal ganglia calcification 5", "Basal Ganglia Calcification, Idiopathic, 5"], "definition_std": ["Idiopathic basal ganglia calcification-5 (IBGC5) is an autosomal dominant disorder characterized by progressive neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. Some patients are asymptomatic. The age at symptom onset ranges from late childhood to adulthood; the disorder is progressive (summary by {1:Keller et al., 2013}).\n\nFor a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (OMIM:213600).", "See http://www.omim.org/entry/615483"], "id_eng": "OMIM:615483", "definition_kw": ["Idiopathic basal ganglia calcification-5 (IBGC5) is an autosomal dominant disorder characterized by progressive neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. Some patients are asymptomatic. The age at symptom onset ranges from late childhood to adulthood; the disorder is progressive (summary by {1:Keller et al., 2013}).\n\nFor a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (OMIM:213600).", "See http://www.omim.org/entry/615483"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3809645"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_615483", "label_std": ["Idiopathic basal ganglia calcification 5", "Basal Ganglia Calcification, Idiopathic, 5"], "equivalent_curie": ["UMLS:C3809645"], "equivalent_curie_kw": ["UMLS:C3809645"], "synonym_eng": ["BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5; IBGC5", "IBGC5", "Basal Ganglia Calcification, Idiopathic, type 5"], "score": 12.108108, "id_kw": "OMIM:615483", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3809645"], "label_kw": ["Idiopathic basal ganglia calcification 5", "Basal Ganglia Calcification, Idiopathic, 5"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_615483", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3809645"], "_version_": 1580845510647873536, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_615483", "id": "OMIM:615483", "definition": ["Idiopathic basal ganglia calcification-5 (IBGC5) is an autosomal dominant disorder characterized by progressive neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. Some patients are asymptomatic. The age at symptom onset ranges from late childhood to adulthood; the disorder is progressive (summary by {1:Keller et al., 2013}).\n\nFor a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (OMIM:213600).", "See http://www.omim.org/entry/615483"], "synonym_kw": ["BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5; IBGC5", "IBGC5", "Basal Ganglia Calcification, Idiopathic, type 5"], "synonym_std": ["BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5; IBGC5", "IBGC5", "Basal Ganglia Calcification, Idiopathic, type 5"], "label": ["Idiopathic basal ganglia calcification 5", "Basal Ganglia Calcification, Idiopathic, 5"], "definition_eng": ["Idiopathic basal ganglia calcification-5 (IBGC5) is an autosomal dominant disorder characterized by progressive neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. Some patients are asymptomatic. The age at symptom onset ranges from late childhood to adulthood; the disorder is progressive (summary by {1:Keller et al., 2013}).\n\nFor a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (OMIM:213600).", "See http://www.omim.org/entry/615483"], "equivalent_curie_std": ["UMLS:C3809645"], "category": ["disease"]}, {"synonym": ["alzheimer"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK1161", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK1161", "label_eng": ["Alzheimer Disease Overview"], "definition_std": ["Alzheimer disease (AD) is characterized by dementia that typically begins with subtle and poorly recognized failure of memory and slowly becomes more severe and, eventually, incapacitating. Other common findings include confusion, poor judgment, language disturbance, agitation, withdrawal, and hallucinations. Occasionally, seizures, Parkinsonian features, increased muscle tone, myoclonus, incontinence, and mutism occur. Death usually results from general inanition, malnutrition, and pneumonia. The typical clinical duration of the disease is eight to ten years, with a range from one to 25 years. Approximately 25% of all AD is familial (i.e., ???2 persons in a family have AD) of which approximately 95% is late onset (age >60-65 years) and 5% is early onset (age <65 years). [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1161]"], "id_eng": "GeneReviews:NBK1161", "definition_kw": ["Alzheimer disease (AD) is characterized by dementia that typically begins with subtle and poorly recognized failure of memory and slowly becomes more severe and, eventually, incapacitating. Other common findings include confusion, poor judgment, language disturbance, agitation, withdrawal, and hallucinations. Occasionally, seizures, Parkinsonian features, increased muscle tone, myoclonus, incontinence, and mutism occur. Death usually results from general inanition, malnutrition, and pneumonia. The typical clinical duration of the disease is eight to ten years, with a range from one to 25 years. Approximately 25% of all AD is familial (i.e., ???2 persons in a family have AD) of which approximately 95% is late onset (age >60-65 years) and 5% is early onset (age <65 years). [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1161]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK1161", "label_std": ["Alzheimer Disease Overview"], "synonym_eng": ["alzheimer"], "score": 12.108108, "id_kw": "GeneReviews:NBK1161", "label_kw": ["Alzheimer Disease Overview"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK1161", "_version_": 1580845511076741120, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK1161", "id": "GeneReviews:NBK1161", "definition": ["Alzheimer disease (AD) is characterized by dementia that typically begins with subtle and poorly recognized failure of memory and slowly becomes more severe and, eventually, incapacitating. Other common findings include confusion, poor judgment, language disturbance, agitation, withdrawal, and hallucinations. Occasionally, seizures, Parkinsonian features, increased muscle tone, myoclonus, incontinence, and mutism occur. Death usually results from general inanition, malnutrition, and pneumonia. The typical clinical duration of the disease is eight to ten years, with a range from one to 25 years. Approximately 25% of all AD is familial (i.e., ???2 persons in a family have AD) of which approximately 95% is late onset (age >60-65 years) and 5% is early onset (age <65 years). [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1161]"], "synonym_kw": ["alzheimer"], "synonym_std": ["alzheimer"], "label": ["Alzheimer Disease Overview"], "definition_eng": ["Alzheimer disease (AD) is characterized by dementia that typically begins with subtle and poorly recognized failure of memory and slowly becomes more severe and, eventually, incapacitating. Other common findings include confusion, poor judgment, language disturbance, agitation, withdrawal, and hallucinations. Occasionally, seizures, Parkinsonian features, increased muscle tone, myoclonus, incontinence, and mutism occur. Death usually results from general inanition, malnutrition, and pneumonia. The typical clinical duration of the disease is eight to ten years, with a range from one to 25 years. Approximately 25% of all AD is familial (i.e., ???2 persons in a family have AD) of which approximately 95% is late onset (age >60-65 years) and 5% is early onset (age <65 years). [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1161]"], "category": ["disease"]}, {"synonym": ["alzheimer-early"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK1236", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK1236", "label_eng": ["Early-Onset Familial Alzheimer Disease "], "definition_std": ["Alzheimer disease (AD) is characterized by adult-onset progressive dementia associated with cerebral cortical atrophy, beta-amyloid plaque formation, and intraneuronal neurofibrillary tangles. AD typically begins with subtle memory failure that becomes more severe and is eventually incapacitating. Other common findings include confusion, poor judgment, language disturbance, agitation, withdrawal, hallucinations, seizures, Parkinsonian features, increased muscle tone, myoclonus, incontinence, and mutism. Familial AD (FAD) characterizes families that have more than one member with AD and usually implies multiple affected persons in more than one generation. Early-onset FAD (EOFAD) refers to families in which onset is consistently before age 60 to 65 years and often before age 55 years. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1236]"], "id_eng": "GeneReviews:NBK1236", "definition_kw": ["Alzheimer disease (AD) is characterized by adult-onset progressive dementia associated with cerebral cortical atrophy, beta-amyloid plaque formation, and intraneuronal neurofibrillary tangles. AD typically begins with subtle memory failure that becomes more severe and is eventually incapacitating. Other common findings include confusion, poor judgment, language disturbance, agitation, withdrawal, hallucinations, seizures, Parkinsonian features, increased muscle tone, myoclonus, incontinence, and mutism. Familial AD (FAD) characterizes families that have more than one member with AD and usually implies multiple affected persons in more than one generation. Early-onset FAD (EOFAD) refers to families in which onset is consistently before age 60 to 65 years and often before age 55 years. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1236]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK1236", "label_std": ["Early-Onset Familial Alzheimer Disease "], "synonym_eng": ["alzheimer-early"], "score": 12.108108, "id_kw": "GeneReviews:NBK1236", "label_kw": ["Early-Onset Familial Alzheimer Disease "], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK1236", "_version_": 1580845511127072768, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK1236", "id": "GeneReviews:NBK1236", "definition": ["Alzheimer disease (AD) is characterized by adult-onset progressive dementia associated with cerebral cortical atrophy, beta-amyloid plaque formation, and intraneuronal neurofibrillary tangles. AD typically begins with subtle memory failure that becomes more severe and is eventually incapacitating. Other common findings include confusion, poor judgment, language disturbance, agitation, withdrawal, hallucinations, seizures, Parkinsonian features, increased muscle tone, myoclonus, incontinence, and mutism. Familial AD (FAD) characterizes families that have more than one member with AD and usually implies multiple affected persons in more than one generation. Early-onset FAD (EOFAD) refers to families in which onset is consistently before age 60 to 65 years and often before age 55 years. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1236]"], "synonym_kw": ["alzheimer-early"], "synonym_std": ["alzheimer-early"], "label": ["Early-Onset Familial Alzheimer Disease "], "definition_eng": ["Alzheimer disease (AD) is characterized by adult-onset progressive dementia associated with cerebral cortical atrophy, beta-amyloid plaque formation, and intraneuronal neurofibrillary tangles. AD typically begins with subtle memory failure that becomes more severe and is eventually incapacitating. Other common findings include confusion, poor judgment, language disturbance, agitation, withdrawal, hallucinations, seizures, Parkinsonian features, increased muscle tone, myoclonus, incontinence, and mutism. Familial AD (FAD) characterizes families that have more than one member with AD and usually implies multiple affected persons in more than one generation. Early-onset FAD (EOFAD) refers to families in which onset is consistently before age 60 to 65 years and often before age 55 years. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1236]"], "category": ["disease"]}, {"synonym": ["SPINOCEREBELLAR ATAXIA 17; SCA17", "HDL4", "SCA17", "Huntington Disease-Like 4", "Spinocerebellar Ataxia type 17", "Huntington disease-like 4"], "equivalent_curie_eng": ["MESH:C564616", "Orphanet:98759", "UMLS:C1846707", "DOID:0050967"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:607136", "iri": "http://purl.obolibrary.org/obo/OMIM_607136", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/MESH_C564616", "http://www.orpha.net/ORDO/Orphanet_98759", "http://purl.obolibrary.org/obo/UMLS_C1846707", "http://purl.obolibrary.org/obo/DOID_0050967"], "label_eng": ["spinocerebellar ataxia type 17", "Spinocerebellar ataxia 17", "Spinocerebellar Ataxia 17"], "definition_std": ["Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.", "SCA17 is an autosomal dominant neurologic disorder characterized by ataxia, pyramidal and extrapyramidal signs, cognitive impairments, psychosis, and seizures. Its clinical phenotype and inheritance pattern are similar to Huntington disease (HD; OMIM:143100). Individuals with normal TBP alleles have between 25 and 44 repeats, whereas SCA17 patients have between 47 and 63 repeats. Reduced penetrance is seen with 45 to 46 repeats (summary by {4:Gao et al. (2008)}).\n\nFor a general discussion of autosomal dominant of spinocerebellar ataxia, see SCA1 (OMIM:164400)."], "id_eng": "OMIM:607136", "definition_kw": ["Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.", "SCA17 is an autosomal dominant neurologic disorder characterized by ataxia, pyramidal and extrapyramidal signs, cognitive impairments, psychosis, and seizures. Its clinical phenotype and inheritance pattern are similar to Huntington disease (HD; OMIM:143100). Individuals with normal TBP alleles have between 25 and 44 repeats, whereas SCA17 patients have between 47 and 63 repeats. Reduced penetrance is seen with 45 to 46 repeats (summary by {4:Gao et al. (2008)}).\n\nFor a general discussion of autosomal dominant of spinocerebellar ataxia, see SCA1 (OMIM:164400)."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/MESH_C564616", "http://www.orpha.net/ORDO/Orphanet_98759", "http://purl.obolibrary.org/obo/UMLS_C1846707", "http://purl.obolibrary.org/obo/DOID_0050967"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_607136", "label_std": ["spinocerebellar ataxia type 17", "Spinocerebellar ataxia 17", "Spinocerebellar Ataxia 17"], "equivalent_curie": ["MESH:C564616", "Orphanet:98759", "UMLS:C1846707", "DOID:0050967"], "equivalent_curie_kw": ["MESH:C564616", "Orphanet:98759", "UMLS:C1846707", "DOID:0050967"], "synonym_eng": ["SPINOCEREBELLAR ATAXIA 17; SCA17", "HDL4", "SCA17", "Huntington Disease-Like 4", "Spinocerebellar Ataxia type 17", "Huntington disease-like 4"], "score": 12.108108, "id_kw": "OMIM:607136", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/MESH_C564616", "http://www.orpha.net/ORDO/Orphanet_98759", "http://purl.obolibrary.org/obo/UMLS_C1846707", "http://purl.obolibrary.org/obo/DOID_0050967"], "label_kw": ["spinocerebellar ataxia type 17", "Spinocerebellar ataxia 17", "Spinocerebellar Ataxia 17"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_607136", "equivalent_iri": ["http://purl.obolibrary.org/obo/MESH_C564616", "http://www.orpha.net/ORDO/Orphanet_98759", "http://purl.obolibrary.org/obo/UMLS_C1846707", "http://purl.obolibrary.org/obo/DOID_0050967"], "_version_": 1580845512349712384, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_607136", "id": "OMIM:607136", "definition": ["Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.", "SCA17 is an autosomal dominant neurologic disorder characterized by ataxia, pyramidal and extrapyramidal signs, cognitive impairments, psychosis, and seizures. Its clinical phenotype and inheritance pattern are similar to Huntington disease (HD; OMIM:143100). Individuals with normal TBP alleles have between 25 and 44 repeats, whereas SCA17 patients have between 47 and 63 repeats. Reduced penetrance is seen with 45 to 46 repeats (summary by {4:Gao et al. (2008)}).\n\nFor a general discussion of autosomal dominant of spinocerebellar ataxia, see SCA1 (OMIM:164400)."], "synonym_kw": ["SPINOCEREBELLAR ATAXIA 17; SCA17", "HDL4", "SCA17", "Huntington Disease-Like 4", "Spinocerebellar Ataxia type 17", "Huntington disease-like 4"], "synonym_std": ["SPINOCEREBELLAR ATAXIA 17; SCA17", "HDL4", "SCA17", "Huntington Disease-Like 4", "Spinocerebellar Ataxia type 17", "Huntington disease-like 4"], "label": ["spinocerebellar ataxia type 17", "Spinocerebellar ataxia 17", "Spinocerebellar Ataxia 17"], "definition_eng": ["Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.", "SCA17 is an autosomal dominant neurologic disorder characterized by ataxia, pyramidal and extrapyramidal signs, cognitive impairments, psychosis, and seizures. Its clinical phenotype and inheritance pattern are similar to Huntington disease (HD; OMIM:143100). Individuals with normal TBP alleles have between 25 and 44 repeats, whereas SCA17 patients have between 47 and 63 repeats. Reduced penetrance is seen with 45 to 46 repeats (summary by {4:Gao et al. (2008)}).\n\nFor a general discussion of autosomal dominant of spinocerebellar ataxia, see SCA1 (OMIM:164400)."], "equivalent_curie_std": ["MESH:C564616", "Orphanet:98759", "UMLS:C1846707", "DOID:0050967"], "category": ["disease"]}, {"synonym": ["NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5", "Beta-Propeller Protein-Associated Neurodegeneration", "Static encephalopathy of childhood with neurdegeneration in adulthood", "NBIA5", "BPAN", "Static Encephalopathy of Childhood With Neurodegeneration 1N Adulthood", "Neurodegeneration with brain iron accumulation type 5", "SENDA", "neurodegeneration with brain iron accumulation type 5", "Neurodegeneration With Brain Iron Accumulation type 5", "Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood"], "equivalent_curie_eng": ["Orphanet:329284", "UMLS:C3550973", "DOID:0110739"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:300894", "iri": "http://purl.obolibrary.org/obo/OMIM_300894", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_329284", "http://purl.obolibrary.org/obo/UMLS_C3550973", "http://purl.obolibrary.org/obo/DOID_0110739"], "label_eng": ["neurodegeneration with brain iron accumulation 5", "Neurodegeneration With Brain Iron Accumulation 5", "Neurodegeneration with brain iron accumulation 5"], "definition_std": ["Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.", "NBIA5, sometimes referred to as 'static encephalopathy of childhood with neurodegeneration in adulthood (SENDA),' is an X-linked neurodegenerative disorder characterized by global developmental delay in early childhood that is essentially static, with slow motor and cognitive gains until adolescence or early adulthood. In young adulthood, affected individuals develop progressive dystonia, parkinsonism, extrapyramidal signs, and dementia resulting in severe disability. Brain MRI shows iron accumulation in the globus pallidus and substantia nigra. A characteristic finding is T1-weighted hyperintensity surrounding a central band of hypointensity in the substantia nigra. Cerebral and cerebellar atrophy are also observed (summary by {2:Haack et al., 2012} and {5:Saitsu et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (OMIM:234200)."], "id_eng": "OMIM:300894", "definition_kw": ["Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.", "NBIA5, sometimes referred to as 'static encephalopathy of childhood with neurodegeneration in adulthood (SENDA),' is an X-linked neurodegenerative disorder characterized by global developmental delay in early childhood that is essentially static, with slow motor and cognitive gains until adolescence or early adulthood. In young adulthood, affected individuals develop progressive dystonia, parkinsonism, extrapyramidal signs, and dementia resulting in severe disability. Brain MRI shows iron accumulation in the globus pallidus and substantia nigra. A characteristic finding is T1-weighted hyperintensity surrounding a central band of hypointensity in the substantia nigra. Cerebral and cerebellar atrophy are also observed (summary by {2:Haack et al., 2012} and {5:Saitsu et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (OMIM:234200)."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_329284", "http://purl.obolibrary.org/obo/UMLS_C3550973", "http://purl.obolibrary.org/obo/DOID_0110739"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_300894", "label_std": ["neurodegeneration with brain iron accumulation 5", "Neurodegeneration With Brain Iron Accumulation 5", "Neurodegeneration with brain iron accumulation 5"], "equivalent_curie": ["Orphanet:329284", "UMLS:C3550973", "DOID:0110739"], "equivalent_curie_kw": ["Orphanet:329284", "UMLS:C3550973", "DOID:0110739"], "synonym_eng": ["NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5", "Beta-Propeller Protein-Associated Neurodegeneration", "Static encephalopathy of childhood with neurdegeneration in adulthood", "NBIA5", "BPAN", "Static Encephalopathy of Childhood With Neurodegeneration 1N Adulthood", "Neurodegeneration with brain iron accumulation type 5", "SENDA", "neurodegeneration with brain iron accumulation type 5", "Neurodegeneration With Brain Iron Accumulation type 5", "Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood"], "score": 10.160107, "id_kw": "OMIM:300894", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_329284", "http://purl.obolibrary.org/obo/UMLS_C3550973", "http://purl.obolibrary.org/obo/DOID_0110739"], "label_kw": ["neurodegeneration with brain iron accumulation 5", "Neurodegeneration With Brain Iron Accumulation 5", "Neurodegeneration with brain iron accumulation 5"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_300894", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_329284", "http://purl.obolibrary.org/obo/UMLS_C3550973", "http://purl.obolibrary.org/obo/DOID_0110739"], "_version_": 1580845510112051201, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_300894", "id": "OMIM:300894", "definition": ["Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.", "NBIA5, sometimes referred to as 'static encephalopathy of childhood with neurodegeneration in adulthood (SENDA),' is an X-linked neurodegenerative disorder characterized by global developmental delay in early childhood that is essentially static, with slow motor and cognitive gains until adolescence or early adulthood. In young adulthood, affected individuals develop progressive dystonia, parkinsonism, extrapyramidal signs, and dementia resulting in severe disability. Brain MRI shows iron accumulation in the globus pallidus and substantia nigra. A characteristic finding is T1-weighted hyperintensity surrounding a central band of hypointensity in the substantia nigra. Cerebral and cerebellar atrophy are also observed (summary by {2:Haack et al., 2012} and {5:Saitsu et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (OMIM:234200)."], "synonym_kw": ["NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5", "Beta-Propeller Protein-Associated Neurodegeneration", "Static encephalopathy of childhood with neurdegeneration in adulthood", "NBIA5", "BPAN", "Static Encephalopathy of Childhood With Neurodegeneration 1N Adulthood", "Neurodegeneration with brain iron accumulation type 5", "SENDA", "neurodegeneration with brain iron accumulation type 5", "Neurodegeneration With Brain Iron Accumulation type 5", "Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood"], "synonym_std": ["NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5", "Beta-Propeller Protein-Associated Neurodegeneration", "Static encephalopathy of childhood with neurdegeneration in adulthood", "NBIA5", "BPAN", "Static Encephalopathy of Childhood With Neurodegeneration 1N Adulthood", "Neurodegeneration with brain iron accumulation type 5", "SENDA", "neurodegeneration with brain iron accumulation type 5", "Neurodegeneration With Brain Iron Accumulation type 5", "Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood"], "label": ["neurodegeneration with brain iron accumulation 5", "Neurodegeneration With Brain Iron Accumulation 5", "Neurodegeneration with brain iron accumulation 5"], "definition_eng": ["Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.", "NBIA5, sometimes referred to as 'static encephalopathy of childhood with neurodegeneration in adulthood (SENDA),' is an X-linked neurodegenerative disorder characterized by global developmental delay in early childhood that is essentially static, with slow motor and cognitive gains until adolescence or early adulthood. In young adulthood, affected individuals develop progressive dystonia, parkinsonism, extrapyramidal signs, and dementia resulting in severe disability. Brain MRI shows iron accumulation in the globus pallidus and substantia nigra. A characteristic finding is T1-weighted hyperintensity surrounding a central band of hypointensity in the substantia nigra. Cerebral and cerebellar atrophy are also observed (summary by {2:Haack et al., 2012} and {5:Saitsu et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (OMIM:234200)."], "equivalent_curie_std": ["Orphanet:329284", "UMLS:C3550973", "DOID:0110739"], "category": ["disease"]}, {"synonym": ["ctx"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK1409", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK1409", "label_eng": ["Cerebrotendinous Xanthomatosis"], "definition_std": ["Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease characterized by infantile-onset diarrhea, childhood-onset cataract, adolescent- to young adult-onset tendon xanthomas, and adult-onset progressive neurologic dysfunction (dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, dystonia, atypical parkinsonism, peripheral neuropathy, and seizures). Chronic diarrhea from infancy may be the earliest clinical manifestation. In approximately 75% of affected individuals, cataracts are the first finding, often appearing in the first decade of life. Xanthomas appear in the second or third decade; they occur on the Achilles tendon, the extensor tendons of the elbow and hand, the patellar tendon, and the neck tendons. Xanthomas have been reported in the lung, bones, and central nervous system. Some individuals show mental impairment from early infancy, whereas the majority have normal or only slightly subnormal intellectual function until puberty; dementia with slow deterioration in intellectual abilities occurs in the 20s in more than 50% of individuals. Neuropsychiatric symptoms such as behavioral changes, hallucinations, agitation, aggression, depression, and suicide attempts may be prominent. Pyramidal signs (i.e., spasticity) and/or cerebellar signs almost invariably become evident between ages 20 and 30 years.  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1409]"], "id_eng": "GeneReviews:NBK1409", "definition_kw": ["Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease characterized by infantile-onset diarrhea, childhood-onset cataract, adolescent- to young adult-onset tendon xanthomas, and adult-onset progressive neurologic dysfunction (dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, dystonia, atypical parkinsonism, peripheral neuropathy, and seizures). Chronic diarrhea from infancy may be the earliest clinical manifestation. In approximately 75% of affected individuals, cataracts are the first finding, often appearing in the first decade of life. Xanthomas appear in the second or third decade; they occur on the Achilles tendon, the extensor tendons of the elbow and hand, the patellar tendon, and the neck tendons. Xanthomas have been reported in the lung, bones, and central nervous system. Some individuals show mental impairment from early infancy, whereas the majority have normal or only slightly subnormal intellectual function until puberty; dementia with slow deterioration in intellectual abilities occurs in the 20s in more than 50% of individuals. Neuropsychiatric symptoms such as behavioral changes, hallucinations, agitation, aggression, depression, and suicide attempts may be prominent. Pyramidal signs (i.e., spasticity) and/or cerebellar signs almost invariably become evident between ages 20 and 30 years.  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1409]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK1409", "label_std": ["Cerebrotendinous Xanthomatosis"], "synonym_eng": ["ctx"], "score": 10.160107, "id_kw": "GeneReviews:NBK1409", "label_kw": ["Cerebrotendinous Xanthomatosis"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK1409", "_version_": 1580845510114148352, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK1409", "id": "GeneReviews:NBK1409", "definition": ["Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease characterized by infantile-onset diarrhea, childhood-onset cataract, adolescent- to young adult-onset tendon xanthomas, and adult-onset progressive neurologic dysfunction (dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, dystonia, atypical parkinsonism, peripheral neuropathy, and seizures). Chronic diarrhea from infancy may be the earliest clinical manifestation. In approximately 75% of affected individuals, cataracts are the first finding, often appearing in the first decade of life. Xanthomas appear in the second or third decade; they occur on the Achilles tendon, the extensor tendons of the elbow and hand, the patellar tendon, and the neck tendons. Xanthomas have been reported in the lung, bones, and central nervous system. Some individuals show mental impairment from early infancy, whereas the majority have normal or only slightly subnormal intellectual function until puberty; dementia with slow deterioration in intellectual abilities occurs in the 20s in more than 50% of individuals. Neuropsychiatric symptoms such as behavioral changes, hallucinations, agitation, aggression, depression, and suicide attempts may be prominent. Pyramidal signs (i.e., spasticity) and/or cerebellar signs almost invariably become evident between ages 20 and 30 years.  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1409]"], "synonym_kw": ["ctx"], "synonym_std": ["ctx"], "label": ["Cerebrotendinous Xanthomatosis"], "definition_eng": ["Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease characterized by infantile-onset diarrhea, childhood-onset cataract, adolescent- to young adult-onset tendon xanthomas, and adult-onset progressive neurologic dysfunction (dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, dystonia, atypical parkinsonism, peripheral neuropathy, and seizures). Chronic diarrhea from infancy may be the earliest clinical manifestation. In approximately 75% of affected individuals, cataracts are the first finding, often appearing in the first decade of life. Xanthomas appear in the second or third decade; they occur on the Achilles tendon, the extensor tendons of the elbow and hand, the patellar tendon, and the neck tendons. Xanthomas have been reported in the lung, bones, and central nervous system. Some individuals show mental impairment from early infancy, whereas the majority have normal or only slightly subnormal intellectual function until puberty; dementia with slow deterioration in intellectual abilities occurs in the 20s in more than 50% of individuals. Neuropsychiatric symptoms such as behavioral changes, hallucinations, agitation, aggression, depression, and suicide attempts may be prominent. Pyramidal signs (i.e., spasticity) and/or cerebellar signs almost invariably become evident between ages 20 and 30 years.  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1409]"], "category": ["disease"]}, {"synonym": ["Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive type 1", "Progressive External Ophthalmoplegia, Autosomal Recessive 1", "PEOB1", "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1; PEOB1"], "equivalent_curie_eng": ["UMLS:C4225153"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:258450", "iri": "http://purl.obolibrary.org/obo/OMIM_258450", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C4225153"], "label_eng": ["Cerebellar ataxia infantile with progressive external ophthalmoplegia", "Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1"], "definition_std": ["Progressive external ophthalmoplegia (PEO) is characterized by multiple mitochondrial DNA (mtDNA) deletions in skeletal muscle. The most common clinical features include adult-onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Less common features include mitral valve prolapse, cardiomyopathy, and gastrointestinal dysmotility. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe ({9:Filosto et al., 2003}; {13:Luoma et al., 2004}).\n\n{6:Drachman (1975)} gave a classification of disorders associated with progressive external ophthalmoplegia, which he termed 'ophthalmoplegia plus' ({5:Drachman, 1968}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Recessive External Ophthalmoplegia with Mitochondrial DNA Deletions\n\nSee also PEOB2 (OMIM:616479), caused by mutation in the RNASEH1 gene (OMIM:604123) on chromosome 2p25; PEOB3 (OMIM:617069), caused by mutation in the TK2 gene (OMIM:188250) on chromosome 16q21; and PEOB4 (OMIM:617070), caused by mutation in the DGUOK gene (OMIM:601465) on chromosome 2p13.", "See http://www.omim.org/entry/258450"], "id_eng": "OMIM:258450", "definition_kw": ["Progressive external ophthalmoplegia (PEO) is characterized by multiple mitochondrial DNA (mtDNA) deletions in skeletal muscle. The most common clinical features include adult-onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Less common features include mitral valve prolapse, cardiomyopathy, and gastrointestinal dysmotility. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe ({9:Filosto et al., 2003}; {13:Luoma et al., 2004}).\n\n{6:Drachman (1975)} gave a classification of disorders associated with progressive external ophthalmoplegia, which he termed 'ophthalmoplegia plus' ({5:Drachman, 1968}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Recessive External Ophthalmoplegia with Mitochondrial DNA Deletions\n\nSee also PEOB2 (OMIM:616479), caused by mutation in the RNASEH1 gene (OMIM:604123) on chromosome 2p25; PEOB3 (OMIM:617069), caused by mutation in the TK2 gene (OMIM:188250) on chromosome 16q21; and PEOB4 (OMIM:617070), caused by mutation in the DGUOK gene (OMIM:601465) on chromosome 2p13.", "See http://www.omim.org/entry/258450"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C4225153"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_258450", "label_std": ["Cerebellar ataxia infantile with progressive external ophthalmoplegia", "Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1"], "equivalent_curie": ["UMLS:C4225153"], "equivalent_curie_kw": ["UMLS:C4225153"], "synonym_eng": ["Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive type 1", "Progressive External Ophthalmoplegia, Autosomal Recessive 1", "PEOB1", "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1; PEOB1"], "score": 10.160107, "id_kw": "OMIM:258450", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C4225153"], "label_kw": ["Cerebellar ataxia infantile with progressive external ophthalmoplegia", "Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_258450", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C4225153"], "_version_": 1580845510374195200, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_258450", "id": "OMIM:258450", "definition": ["Progressive external ophthalmoplegia (PEO) is characterized by multiple mitochondrial DNA (mtDNA) deletions in skeletal muscle. The most common clinical features include adult-onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Less common features include mitral valve prolapse, cardiomyopathy, and gastrointestinal dysmotility. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe ({9:Filosto et al., 2003}; {13:Luoma et al., 2004}).\n\n{6:Drachman (1975)} gave a classification of disorders associated with progressive external ophthalmoplegia, which he termed 'ophthalmoplegia plus' ({5:Drachman, 1968}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Recessive External Ophthalmoplegia with Mitochondrial DNA Deletions\n\nSee also PEOB2 (OMIM:616479), caused by mutation in the RNASEH1 gene (OMIM:604123) on chromosome 2p25; PEOB3 (OMIM:617069), caused by mutation in the TK2 gene (OMIM:188250) on chromosome 16q21; and PEOB4 (OMIM:617070), caused by mutation in the DGUOK gene (OMIM:601465) on chromosome 2p13.", "See http://www.omim.org/entry/258450"], "synonym_kw": ["Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive type 1", "Progressive External Ophthalmoplegia, Autosomal Recessive 1", "PEOB1", "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1; PEOB1"], "synonym_std": ["Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive type 1", "Progressive External Ophthalmoplegia, Autosomal Recessive 1", "PEOB1", "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1; PEOB1"], "label": ["Cerebellar ataxia infantile with progressive external ophthalmoplegia", "Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1"], "definition_eng": ["Progressive external ophthalmoplegia (PEO) is characterized by multiple mitochondrial DNA (mtDNA) deletions in skeletal muscle. The most common clinical features include adult-onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Less common features include mitral valve prolapse, cardiomyopathy, and gastrointestinal dysmotility. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe ({9:Filosto et al., 2003}; {13:Luoma et al., 2004}).\n\n{6:Drachman (1975)} gave a classification of disorders associated with progressive external ophthalmoplegia, which he termed 'ophthalmoplegia plus' ({5:Drachman, 1968}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Recessive External Ophthalmoplegia with Mitochondrial DNA Deletions\n\nSee also PEOB2 (OMIM:616479), caused by mutation in the RNASEH1 gene (OMIM:604123) on chromosome 2p25; PEOB3 (OMIM:617069), caused by mutation in the TK2 gene (OMIM:188250) on chromosome 16q21; and PEOB4 (OMIM:617070), caused by mutation in the DGUOK gene (OMIM:601465) on chromosome 2p13.", "See http://www.omim.org/entry/258450"], "equivalent_curie_std": ["UMLS:C4225153"], "category": ["disease"]}, {"synonym": ["drd"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK1508", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK1508", "label_eng": ["GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia"], "definition_std": ["GTP cyclohydrolase 1-deficient dopa-responsive dystonia (GTPCH1-deficient DRD) is characterized by childhood-onset dystonia and a dramatic and sustained response to low doses of oral administration of levodopa. The average age of onset is approximately six years. This disorder typically presents with gait disturbance caused by foot dystonia, later development of parkinsonism, and diurnal fluctuation of symptoms (aggravation of symptoms toward the evening and alleviation of symptoms in the morning after sleep). Initial symptoms are often gait difficulties attributable to flexion-inversion (equinovarus posture) of the foot. Occasionally, initial symptoms are arm dystonia, postural tremor of the hand, or slowness of movements. Brisk deep-tendon reflexes in the legs, ankle clonus, and/or the striatal toe (dystonic extension of the big toe) are present in many affected individuals. In general, gradual progression to generalized dystonia is observed. Intellectual, cerebellar, sensory, and autonomic disturbances generally do not occur. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1508]"], "id_eng": "GeneReviews:NBK1508", "definition_kw": ["GTP cyclohydrolase 1-deficient dopa-responsive dystonia (GTPCH1-deficient DRD) is characterized by childhood-onset dystonia and a dramatic and sustained response to low doses of oral administration of levodopa. The average age of onset is approximately six years. This disorder typically presents with gait disturbance caused by foot dystonia, later development of parkinsonism, and diurnal fluctuation of symptoms (aggravation of symptoms toward the evening and alleviation of symptoms in the morning after sleep). Initial symptoms are often gait difficulties attributable to flexion-inversion (equinovarus posture) of the foot. Occasionally, initial symptoms are arm dystonia, postural tremor of the hand, or slowness of movements. Brisk deep-tendon reflexes in the legs, ankle clonus, and/or the striatal toe (dystonic extension of the big toe) are present in many affected individuals. In general, gradual progression to generalized dystonia is observed. Intellectual, cerebellar, sensory, and autonomic disturbances generally do not occur. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1508]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK1508", "label_std": ["GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia"], "synonym_eng": ["drd"], "score": 10.160107, "id_kw": "GeneReviews:NBK1508", "label_kw": ["GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK1508", "_version_": 1580845510653116418, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK1508", "id": "GeneReviews:NBK1508", "definition": ["GTP cyclohydrolase 1-deficient dopa-responsive dystonia (GTPCH1-deficient DRD) is characterized by childhood-onset dystonia and a dramatic and sustained response to low doses of oral administration of levodopa. The average age of onset is approximately six years. This disorder typically presents with gait disturbance caused by foot dystonia, later development of parkinsonism, and diurnal fluctuation of symptoms (aggravation of symptoms toward the evening and alleviation of symptoms in the morning after sleep). Initial symptoms are often gait difficulties attributable to flexion-inversion (equinovarus posture) of the foot. Occasionally, initial symptoms are arm dystonia, postural tremor of the hand, or slowness of movements. Brisk deep-tendon reflexes in the legs, ankle clonus, and/or the striatal toe (dystonic extension of the big toe) are present in many affected individuals. In general, gradual progression to generalized dystonia is observed. Intellectual, cerebellar, sensory, and autonomic disturbances generally do not occur. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1508]"], "synonym_kw": ["drd"], "synonym_std": ["drd"], "label": ["GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia"], "definition_eng": ["GTP cyclohydrolase 1-deficient dopa-responsive dystonia (GTPCH1-deficient DRD) is characterized by childhood-onset dystonia and a dramatic and sustained response to low doses of oral administration of levodopa. The average age of onset is approximately six years. This disorder typically presents with gait disturbance caused by foot dystonia, later development of parkinsonism, and diurnal fluctuation of symptoms (aggravation of symptoms toward the evening and alleviation of symptoms in the morning after sleep). Initial symptoms are often gait difficulties attributable to flexion-inversion (equinovarus posture) of the foot. Occasionally, initial symptoms are arm dystonia, postural tremor of the hand, or slowness of movements. Brisk deep-tendon reflexes in the legs, ankle clonus, and/or the striatal toe (dystonic extension of the big toe) are present in many affected individuals. In general, gradual progression to generalized dystonia is observed. Intellectual, cerebellar, sensory, and autonomic disturbances generally do not occur. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1508]"], "category": ["disease"]}, {"synonym": ["NBIA4", "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; NBIA4", "MPAN", "Mitochondrial Protein-Associated Neurodegeneration", "Neurodegeneration with brain iron accumulation type 4", "Neurodegeneration with brain iron accumulation due to C19orf12 mutation", "Neurodegeneration With Brain Iron Accumulation type 4", "NBIA due to C19orf12 mutation", "neurodegeneration with brain iron accumulation type 4"], "equivalent_curie_eng": ["Orphanet:289560", "UMLS:C3280371", "DOID:0110738"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:614298", "iri": "http://purl.obolibrary.org/obo/OMIM_614298", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_289560", "http://purl.obolibrary.org/obo/UMLS_C3280371", "http://purl.obolibrary.org/obo/DOID_0110738"], "label_eng": ["neurodegeneration with brain iron accumulation 4", "Neurodegeneration With Brain Iron Accumulation 4", "Neurodegeneration with brain iron accumulation 4"], "definition_std": ["Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.", "Neurodegeneration with brain iron accumulation-4 (NBIA4) is an autosomal recessive neurodegenerative disorder characterized by progressive spastic paraplegia, parkinsonism unresponsive to L-DOPA treatment, and psychiatric or behavioral symptoms. Other neurologic features, including optic atrophy, eye movement abnormalities, dystonia, dysphagia, dysarthria, and motor axonal neuropathy, may occur. Brain MRI shows T2-weighted hypointensities in the globus pallidus and substantia nigra. Onset is usually in the first 2 decades, but later onset has been reported (summary by {2:Dogu et al., 2013}). There is phenotypic variation: some patients may not have extrapyramidal signs and may have muscle weakness and atrophy as well as cognitive impairment or developmental delay ({1:Deschauer et al., 2012})\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (OMIM:234200)."], "id_eng": "OMIM:614298", "definition_kw": ["Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.", "Neurodegeneration with brain iron accumulation-4 (NBIA4) is an autosomal recessive neurodegenerative disorder characterized by progressive spastic paraplegia, parkinsonism unresponsive to L-DOPA treatment, and psychiatric or behavioral symptoms. Other neurologic features, including optic atrophy, eye movement abnormalities, dystonia, dysphagia, dysarthria, and motor axonal neuropathy, may occur. Brain MRI shows T2-weighted hypointensities in the globus pallidus and substantia nigra. Onset is usually in the first 2 decades, but later onset has been reported (summary by {2:Dogu et al., 2013}). There is phenotypic variation: some patients may not have extrapyramidal signs and may have muscle weakness and atrophy as well as cognitive impairment or developmental delay ({1:Deschauer et al., 2012})\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (OMIM:234200)."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_289560", "http://purl.obolibrary.org/obo/UMLS_C3280371", "http://purl.obolibrary.org/obo/DOID_0110738"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_614298", "label_std": ["neurodegeneration with brain iron accumulation 4", "Neurodegeneration With Brain Iron Accumulation 4", "Neurodegeneration with brain iron accumulation 4"], "equivalent_curie": ["Orphanet:289560", "UMLS:C3280371", "DOID:0110738"], "equivalent_curie_kw": ["Orphanet:289560", "UMLS:C3280371", "DOID:0110738"], "synonym_eng": ["NBIA4", "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; NBIA4", "MPAN", "Mitochondrial Protein-Associated Neurodegeneration", "Neurodegeneration with brain iron accumulation type 4", "Neurodegeneration with brain iron accumulation due to C19orf12 mutation", "Neurodegeneration With Brain Iron Accumulation type 4", "NBIA due to C19orf12 mutation", "neurodegeneration with brain iron accumulation type 4"], "score": 10.160107, "id_kw": "OMIM:614298", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_289560", "http://purl.obolibrary.org/obo/UMLS_C3280371", "http://purl.obolibrary.org/obo/DOID_0110738"], "label_kw": ["neurodegeneration with brain iron accumulation 4", "Neurodegeneration With Brain Iron Accumulation 4", "Neurodegeneration with brain iron accumulation 4"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_614298", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_289560", "http://purl.obolibrary.org/obo/UMLS_C3280371", "http://purl.obolibrary.org/obo/DOID_0110738"], "_version_": 1580845511215153152, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_614298", "id": "OMIM:614298", "definition": ["Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.", "Neurodegeneration with brain iron accumulation-4 (NBIA4) is an autosomal recessive neurodegenerative disorder characterized by progressive spastic paraplegia, parkinsonism unresponsive to L-DOPA treatment, and psychiatric or behavioral symptoms. Other neurologic features, including optic atrophy, eye movement abnormalities, dystonia, dysphagia, dysarthria, and motor axonal neuropathy, may occur. Brain MRI shows T2-weighted hypointensities in the globus pallidus and substantia nigra. Onset is usually in the first 2 decades, but later onset has been reported (summary by {2:Dogu et al., 2013}). There is phenotypic variation: some patients may not have extrapyramidal signs and may have muscle weakness and atrophy as well as cognitive impairment or developmental delay ({1:Deschauer et al., 2012})\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (OMIM:234200)."], "synonym_kw": ["NBIA4", "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; NBIA4", "MPAN", "Mitochondrial Protein-Associated Neurodegeneration", "Neurodegeneration with brain iron accumulation type 4", "Neurodegeneration with brain iron accumulation due to C19orf12 mutation", "Neurodegeneration With Brain Iron Accumulation type 4", "NBIA due to C19orf12 mutation", "neurodegeneration with brain iron accumulation type 4"], "synonym_std": ["NBIA4", "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; NBIA4", "MPAN", "Mitochondrial Protein-Associated Neurodegeneration", "Neurodegeneration with brain iron accumulation type 4", "Neurodegeneration with brain iron accumulation due to C19orf12 mutation", "Neurodegeneration With Brain Iron Accumulation type 4", "NBIA due to C19orf12 mutation", "neurodegeneration with brain iron accumulation type 4"], "label": ["neurodegeneration with brain iron accumulation 4", "Neurodegeneration With Brain Iron Accumulation 4", "Neurodegeneration with brain iron accumulation 4"], "definition_eng": ["Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.", "Neurodegeneration with brain iron accumulation-4 (NBIA4) is an autosomal recessive neurodegenerative disorder characterized by progressive spastic paraplegia, parkinsonism unresponsive to L-DOPA treatment, and psychiatric or behavioral symptoms. Other neurologic features, including optic atrophy, eye movement abnormalities, dystonia, dysphagia, dysarthria, and motor axonal neuropathy, may occur. Brain MRI shows T2-weighted hypointensities in the globus pallidus and substantia nigra. Onset is usually in the first 2 decades, but later onset has been reported (summary by {2:Dogu et al., 2013}). There is phenotypic variation: some patients may not have extrapyramidal signs and may have muscle weakness and atrophy as well as cognitive impairment or developmental delay ({1:Deschauer et al., 2012})\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (OMIM:234200)."], "equivalent_curie_std": ["Orphanet:289560", "UMLS:C3280371", "DOID:0110738"], "category": ["disease"]}, {"synonym": ["chac"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK1387", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK1387", "label_eng": ["Chorea-Acanthocytosis"], "definition_std": ["Chorea-acanthocytosis (ChAc) is characterized by a progressive movement disorder, cognitive and behavior changes, a myopathy that can be subclinical, and chronic hyperCKemia in serum. Although the disorder is named for acanthocytosis of the red blood cells, this feature is variable. The movement disorder is mostly limb chorea, but some individuals present with parkinsonism. Dystonia is common and affects the oral region and especially the tongue, causing dysarthria and serious dysphagia with resultant weight loss. Habitual tongue and lip biting are characteristic, as well as tongue protrusion dystonia. Progressive cognitive and behavioral changes resemble those in a frontal lobe syndrome. Seizures are observed in almost half of affected individuals and can be the initial manifestation. Myopathy results in progressive distal muscle wasting and weakness. Mean age of onset in ChAc is about 30 years, although ChAc can develop as early as the first decade or as late as the seventh decade. It runs a chronic progressive course and may lead to major disability within a few years. Life expectancy is reduced, with age of death ranging from 28 to 61 years.  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1387]"], "id_eng": "GeneReviews:NBK1387", "definition_kw": ["Chorea-acanthocytosis (ChAc) is characterized by a progressive movement disorder, cognitive and behavior changes, a myopathy that can be subclinical, and chronic hyperCKemia in serum. Although the disorder is named for acanthocytosis of the red blood cells, this feature is variable. The movement disorder is mostly limb chorea, but some individuals present with parkinsonism. Dystonia is common and affects the oral region and especially the tongue, causing dysarthria and serious dysphagia with resultant weight loss. Habitual tongue and lip biting are characteristic, as well as tongue protrusion dystonia. Progressive cognitive and behavioral changes resemble those in a frontal lobe syndrome. Seizures are observed in almost half of affected individuals and can be the initial manifestation. Myopathy results in progressive distal muscle wasting and weakness. Mean age of onset in ChAc is about 30 years, although ChAc can develop as early as the first decade or as late as the seventh decade. It runs a chronic progressive course and may lead to major disability within a few years. Life expectancy is reduced, with age of death ranging from 28 to 61 years.  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1387]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK1387", "label_std": ["Chorea-Acanthocytosis"], "synonym_eng": ["chac"], "score": 10.160107, "id_kw": "GeneReviews:NBK1387", "label_kw": ["Chorea-Acanthocytosis"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK1387", "_version_": 1580845511863173120, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK1387", "id": "GeneReviews:NBK1387", "definition": ["Chorea-acanthocytosis (ChAc) is characterized by a progressive movement disorder, cognitive and behavior changes, a myopathy that can be subclinical, and chronic hyperCKemia in serum. Although the disorder is named for acanthocytosis of the red blood cells, this feature is variable. The movement disorder is mostly limb chorea, but some individuals present with parkinsonism. Dystonia is common and affects the oral region and especially the tongue, causing dysarthria and serious dysphagia with resultant weight loss. Habitual tongue and lip biting are characteristic, as well as tongue protrusion dystonia. Progressive cognitive and behavioral changes resemble those in a frontal lobe syndrome. Seizures are observed in almost half of affected individuals and can be the initial manifestation. Myopathy results in progressive distal muscle wasting and weakness. Mean age of onset in ChAc is about 30 years, although ChAc can develop as early as the first decade or as late as the seventh decade. It runs a chronic progressive course and may lead to major disability within a few years. Life expectancy is reduced, with age of death ranging from 28 to 61 years.  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1387]"], "synonym_kw": ["chac"], "synonym_std": ["chac"], "label": ["Chorea-Acanthocytosis"], "definition_eng": ["Chorea-acanthocytosis (ChAc) is characterized by a progressive movement disorder, cognitive and behavior changes, a myopathy that can be subclinical, and chronic hyperCKemia in serum. Although the disorder is named for acanthocytosis of the red blood cells, this feature is variable. The movement disorder is mostly limb chorea, but some individuals present with parkinsonism. Dystonia is common and affects the oral region and especially the tongue, causing dysarthria and serious dysphagia with resultant weight loss. Habitual tongue and lip biting are characteristic, as well as tongue protrusion dystonia. Progressive cognitive and behavioral changes resemble those in a frontal lobe syndrome. Seizures are observed in almost half of affected individuals and can be the initial manifestation. Myopathy results in progressive distal muscle wasting and weakness. Mean age of onset in ChAc is about 30 years, although ChAc can develop as early as the first decade or as late as the seventh decade. It runs a chronic progressive course and may lead to major disability within a few years. Life expectancy is reduced, with age of death ranging from 28 to 61 years.  [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1387]"], "category": ["disease"]}, {"synonym": ["SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78", "SPG78", "Spastic Paraplegia 78, Autosomal Recessive"], "equivalent_curie_eng": ["UMLS:CN239936"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:617225", "iri": "http://purl.obolibrary.org/obo/OMIM_617225", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_CN239936"], "label_eng": ["Spastic paraplegia 78, autosomal recessive", "Spastic Paraplegia 78, Autosomal Recessive; SPG78", "Spastic Paraplegia 78, Autosomal Recessive"], "definition_std": ["Autosomal recessive spastic paraplegia-78 is an adult-onset neurodegenerative disorder characterized predominantly by spasticity and muscle weakness of the lower limbs, resulting in gait difficulties and loss of ambulation in some patients. Affected individuals also have cerebellar signs, such as dysarthria, oculomotor disturbances, and limb and gait ataxia; brain imaging shows cerebellar atrophy. Some patients may have mild cognitive impairment or frank dementia. The phenotype is highly variable (summary by {1:Estrada-Cuzcano et al., 2017}).\n\nBiallelic mutation in the ATP13A2 gene also causes Kufor-Rakeb syndrome (KRS; OMIM:606693), a neurodegenerative disorder with overlapping features. Patients with KRS have earlier onset and prominent parkinsonism. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting various regions of the brain and nervous system, including cortical, pyramidal, extrapyramidal, brainstem, cerebellar, and peripheral (summary by {1:Estrada-Cuzcano et al., 2017})."], "id_eng": "OMIM:617225", "definition_kw": ["Autosomal recessive spastic paraplegia-78 is an adult-onset neurodegenerative disorder characterized predominantly by spasticity and muscle weakness of the lower limbs, resulting in gait difficulties and loss of ambulation in some patients. Affected individuals also have cerebellar signs, such as dysarthria, oculomotor disturbances, and limb and gait ataxia; brain imaging shows cerebellar atrophy. Some patients may have mild cognitive impairment or frank dementia. The phenotype is highly variable (summary by {1:Estrada-Cuzcano et al., 2017}).\n\nBiallelic mutation in the ATP13A2 gene also causes Kufor-Rakeb syndrome (KRS; OMIM:606693), a neurodegenerative disorder with overlapping features. Patients with KRS have earlier onset and prominent parkinsonism. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting various regions of the brain and nervous system, including cortical, pyramidal, extrapyramidal, brainstem, cerebellar, and peripheral (summary by {1:Estrada-Cuzcano et al., 2017})."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_CN239936"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_617225", "label_std": ["Spastic paraplegia 78, autosomal recessive", "Spastic Paraplegia 78, Autosomal Recessive; SPG78", "Spastic Paraplegia 78, Autosomal Recessive"], "equivalent_curie": ["UMLS:CN239936"], "equivalent_curie_kw": ["UMLS:CN239936"], "synonym_eng": ["SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78", "SPG78", "Spastic Paraplegia 78, Autosomal Recessive"], "score": 10.160107, "id_kw": "OMIM:617225", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_CN239936"], "label_kw": ["Spastic paraplegia 78, autosomal recessive", "Spastic Paraplegia 78, Autosomal Recessive; SPG78", "Spastic Paraplegia 78, Autosomal Recessive"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_617225", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_CN239936"], "_version_": 1580845544258928640, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_617225", "id": "OMIM:617225", "definition": ["Autosomal recessive spastic paraplegia-78 is an adult-onset neurodegenerative disorder characterized predominantly by spasticity and muscle weakness of the lower limbs, resulting in gait difficulties and loss of ambulation in some patients. Affected individuals also have cerebellar signs, such as dysarthria, oculomotor disturbances, and limb and gait ataxia; brain imaging shows cerebellar atrophy. Some patients may have mild cognitive impairment or frank dementia. The phenotype is highly variable (summary by {1:Estrada-Cuzcano et al., 2017}).\n\nBiallelic mutation in the ATP13A2 gene also causes Kufor-Rakeb syndrome (KRS; OMIM:606693), a neurodegenerative disorder with overlapping features. Patients with KRS have earlier onset and prominent parkinsonism. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting various regions of the brain and nervous system, including cortical, pyramidal, extrapyramidal, brainstem, cerebellar, and peripheral (summary by {1:Estrada-Cuzcano et al., 2017})."], "synonym_kw": ["SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78", "SPG78", "Spastic Paraplegia 78, Autosomal Recessive"], "synonym_std": ["SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78", "SPG78", "Spastic Paraplegia 78, Autosomal Recessive"], "label": ["Spastic paraplegia 78, autosomal recessive", "Spastic Paraplegia 78, Autosomal Recessive; SPG78", "Spastic Paraplegia 78, Autosomal Recessive"], "definition_eng": ["Autosomal recessive spastic paraplegia-78 is an adult-onset neurodegenerative disorder characterized predominantly by spasticity and muscle weakness of the lower limbs, resulting in gait difficulties and loss of ambulation in some patients. Affected individuals also have cerebellar signs, such as dysarthria, oculomotor disturbances, and limb and gait ataxia; brain imaging shows cerebellar atrophy. Some patients may have mild cognitive impairment or frank dementia. The phenotype is highly variable (summary by {1:Estrada-Cuzcano et al., 2017}).\n\nBiallelic mutation in the ATP13A2 gene also causes Kufor-Rakeb syndrome (KRS; OMIM:606693), a neurodegenerative disorder with overlapping features. Patients with KRS have earlier onset and prominent parkinsonism. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting various regions of the brain and nervous system, including cortical, pyramidal, extrapyramidal, brainstem, cerebellar, and peripheral (summary by {1:Estrada-Cuzcano et al., 2017})."], "equivalent_curie_std": ["UMLS:CN239936"], "category": ["disease"]}, {"synonym": ["Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 4", "Progressive External Ophthalmoplegia, Autosomal Recessive 4", "Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency", "PEOB4", "Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive type 4", "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4; PEOB4"], "equivalent_curie_eng": ["Orphanet:329314", "UMLS:CN237802", "UMLS:CN204207"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:617070", "iri": "http://purl.obolibrary.org/obo/OMIM_617070", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_329314", "http://purl.obolibrary.org/obo/UMLS_CN237802", "http://purl.obolibrary.org/obo/UMLS_CN204207"], "label_eng": ["Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency", "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4", "Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4"], "definition_std": ["Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-4 (PEOB4) is an autosomal recessive disorder characterized by adult onset of eye muscle weakness and proximal limb muscle weakness associated with deletions of mtDNA on skeletal muscle biopsy, which results from defective mtDNA replication in post-mitotic muscle tissue. Additional features are more variable (summary by {1:Ronchi et al., 2012}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive PEO, see PEOB1 (OMIM:258450).", "Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism."], "id_eng": "OMIM:617070", "definition_kw": ["Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-4 (PEOB4) is an autosomal recessive disorder characterized by adult onset of eye muscle weakness and proximal limb muscle weakness associated with deletions of mtDNA on skeletal muscle biopsy, which results from defective mtDNA replication in post-mitotic muscle tissue. Additional features are more variable (summary by {1:Ronchi et al., 2012}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive PEO, see PEOB1 (OMIM:258450).", "Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_329314", "http://purl.obolibrary.org/obo/UMLS_CN237802", "http://purl.obolibrary.org/obo/UMLS_CN204207"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_617070", "label_std": ["Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency", "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4", "Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4"], "equivalent_curie": ["Orphanet:329314", "UMLS:CN237802", "UMLS:CN204207"], "equivalent_curie_kw": ["Orphanet:329314", "UMLS:CN237802", "UMLS:CN204207"], "synonym_eng": ["Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 4", "Progressive External Ophthalmoplegia, Autosomal Recessive 4", "Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency", "PEOB4", "Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive type 4", "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4; PEOB4"], "score": 10.160107, "id_kw": "OMIM:617070", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_329314", "http://purl.obolibrary.org/obo/UMLS_CN237802", "http://purl.obolibrary.org/obo/UMLS_CN204207"], "label_kw": ["Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency", "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4", "Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_617070", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_329314", "http://purl.obolibrary.org/obo/UMLS_CN237802", "http://purl.obolibrary.org/obo/UMLS_CN204207"], "_version_": 1580845545740566528, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_617070", "id": "OMIM:617070", "definition": ["Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-4 (PEOB4) is an autosomal recessive disorder characterized by adult onset of eye muscle weakness and proximal limb muscle weakness associated with deletions of mtDNA on skeletal muscle biopsy, which results from defective mtDNA replication in post-mitotic muscle tissue. Additional features are more variable (summary by {1:Ronchi et al., 2012}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive PEO, see PEOB1 (OMIM:258450).", "Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism."], "synonym_kw": ["Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 4", "Progressive External Ophthalmoplegia, Autosomal Recessive 4", "Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency", "PEOB4", "Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive type 4", "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4; PEOB4"], "synonym_std": ["Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 4", "Progressive External Ophthalmoplegia, Autosomal Recessive 4", "Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency", "PEOB4", "Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive type 4", "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4; PEOB4"], "label": ["Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency", "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4", "Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4"], "definition_eng": ["Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-4 (PEOB4) is an autosomal recessive disorder characterized by adult onset of eye muscle weakness and proximal limb muscle weakness associated with deletions of mtDNA on skeletal muscle biopsy, which results from defective mtDNA replication in post-mitotic muscle tissue. Additional features are more variable (summary by {1:Ronchi et al., 2012}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive PEO, see PEOB1 (OMIM:258450).", "Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism."], "equivalent_curie_std": ["Orphanet:329314", "UMLS:CN237802", "UMLS:CN204207"], "category": ["disease"]}, {"synonym": ["Hallervorden Spatz Syndrome", "Dystrophy, Juvenile-Onset Neuroaxonal", "Neurodegeneration With Brain Iron Accumulation 1", "Neurodegeneration with brain iron accumulation type 1", "Neuroaxonal Dystrophy, Juvenile Onset", "Juvenile-Onset Neuroaxonal Dystrophy", "neurodegeneration with brain iron accumulation 1 ", "Dystrophies, Juvenile-Onset Neuroaxonal", "Pallidal Atrophy, Pigmentary", "PKAN", "NBIA1", "Pantothenate Kinase-Associated Neurodegeneration", "Neurodegeneration With Brain Iron Accumulation type 1", "Pkan Neuroaxonal Dystrophy, Juvenile-Onset", "Neurodegeneration with Brain Iron Accumulation Type 1", "Neuroaxonal Dystrophy, Juvenile-Onset", "Neurodegeneration, Pantothenate Kinase-Associated", "PKAN Neuroaxonal Dystrophy, Juvenile-Onset", "Degeneration, Pigmentary Pallidal", "brain Iron Accumulation type I syndrome", "PKAN Neuroaxonal Dystrophy, Juvenile Onset", "Neuroaxonal Dystrophies, Juvenile-Onset", "Pigmentary pallidal degeneration (disorder)", "Hallervorden-Spatz Syndrome", "Hallervorden-Spatz Disease", "Pigmentary Pallidal Atrophy", "Hallervorden-Spatz syndrome", "Hallervorden-Spatz disease", "Hallervorden Spatz Disease", "Pantothenate Kinase Associated Neurodegeneration", "Juvenile-Onset Neuroaxonal Dystrophies", "Pigmentary Pallidal Degeneration", "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1"], "equivalent_curie_eng": ["Orphanet:157850", "UMLS:C0018523", "DOID:3981", "MESH:D006211"], "leaf": false, "category_std": ["disease"], "id_std": "OMIM:234200", "iri": "http://purl.obolibrary.org/obo/OMIM_234200", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_157850", "http://purl.obolibrary.org/obo/UMLS_C0018523", "http://purl.obolibrary.org/obo/DOID_3981", "http://purl.obolibrary.org/obo/MESH_D006211"], "label_eng": ["Neurodegeneration With Brain Iron Accumulation 1", "pantothenate kinase-associated neurodegeneration", "Pigmentary pallidal degeneration"], "definition_std": ["Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.", "Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, severity, and cognitive involvement are variable (review by {7:Gregory et al., 2009}).\n\nPKAN has been classified clinically as 'classic,' 'atypical,' or 'intermediate.' In the classic form, patients present within the first decade of life with rapidly progressing disease and loss of ambulation approximately 15 years later. In the atypical form, patients have onset in the second decade with slow progression and maintain independent ambulation after 15 years. In the intermediate form, patients have early onset and slow progression or later onset and rapid progression. Patients with early onset tend to develop pigmentary retinopathy, whereas those with later onset tend to have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI ({10:Hayflick et al., 2003}; {19:Pellecchia et al., 2005}).\n\n{12:Kumar et al. (2006)} noted that the 'eye of the tiger' sign is not pathognomonic for PANK2 mutations. They reported 2 unrelated adult patients with cognitive dysfunction who had the characteristic sign on MRI but did not have mutations in the PANK2 gene.\n\n{7:Gregory et al. (2009)} provided a detailed review of the different forms of neurodegeneration with brain iron accumulation.\n\nIn addition, some patients with Kufor-Rakeb syndrome (OMIM:606693), also known as Parkinson disease-9 (PARK9), have iron deposition in the basal ganglia.\n\n<Subhead> Genetic Heterogeneity of Neurodegeneration with Brain Iron Accumulation\n\nNeurodegeneration with brain iron accumulation is an umbrella term that encompasses a group of genetically heterogeneous disorders. See also NBIA2A (OMIM:256600) and NBIA2B (OMIM:610217), both caused by mutation in the PLA2G6 gene (OMIM:603604); NBIA3 (OMIM:606159), caused by mutation in the FTL gene (OMIM:134790); NBIA4 (OMIM:614298), caused by mutation in the C19ORF12 gene (OMIM:614297); NBIA5 (OMIM:300894), caused by mutation in the WDR45 gene (OMIM:300526); and NBIA6 (OMIM:615643), caused by mutation in the COASY gene (OMIM:609855).\n\nSee review of {22:Schneider and Bhatia (2012)} on syndromes of neurodegeneration with brain iron accumulation, including Kufor-Rakeb disease (OMIM:606693) and aceruloplasminemia (OMIM:604290)."], "id_eng": "OMIM:234200", "definition_kw": ["Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.", "Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, severity, and cognitive involvement are variable (review by {7:Gregory et al., 2009}).\n\nPKAN has been classified clinically as 'classic,' 'atypical,' or 'intermediate.' In the classic form, patients present within the first decade of life with rapidly progressing disease and loss of ambulation approximately 15 years later. In the atypical form, patients have onset in the second decade with slow progression and maintain independent ambulation after 15 years. In the intermediate form, patients have early onset and slow progression or later onset and rapid progression. Patients with early onset tend to develop pigmentary retinopathy, whereas those with later onset tend to have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI ({10:Hayflick et al., 2003}; {19:Pellecchia et al., 2005}).\n\n{12:Kumar et al. (2006)} noted that the 'eye of the tiger' sign is not pathognomonic for PANK2 mutations. They reported 2 unrelated adult patients with cognitive dysfunction who had the characteristic sign on MRI but did not have mutations in the PANK2 gene.\n\n{7:Gregory et al. (2009)} provided a detailed review of the different forms of neurodegeneration with brain iron accumulation.\n\nIn addition, some patients with Kufor-Rakeb syndrome (OMIM:606693), also known as Parkinson disease-9 (PARK9), have iron deposition in the basal ganglia.\n\n<Subhead> Genetic Heterogeneity of Neurodegeneration with Brain Iron Accumulation\n\nNeurodegeneration with brain iron accumulation is an umbrella term that encompasses a group of genetically heterogeneous disorders. See also NBIA2A (OMIM:256600) and NBIA2B (OMIM:610217), both caused by mutation in the PLA2G6 gene (OMIM:603604); NBIA3 (OMIM:606159), caused by mutation in the FTL gene (OMIM:134790); NBIA4 (OMIM:614298), caused by mutation in the C19ORF12 gene (OMIM:614297); NBIA5 (OMIM:300894), caused by mutation in the WDR45 gene (OMIM:300526); and NBIA6 (OMIM:615643), caused by mutation in the COASY gene (OMIM:609855).\n\nSee review of {22:Schneider and Bhatia (2012)} on syndromes of neurodegeneration with brain iron accumulation, including Kufor-Rakeb disease (OMIM:606693) and aceruloplasminemia (OMIM:604290)."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_157850", "http://purl.obolibrary.org/obo/UMLS_C0018523", "http://purl.obolibrary.org/obo/DOID_3981", "http://purl.obolibrary.org/obo/MESH_D006211"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_234200", "label_std": ["Neurodegeneration With Brain Iron Accumulation 1", "pantothenate kinase-associated neurodegeneration", "Pigmentary pallidal degeneration"], "equivalent_curie": ["Orphanet:157850", "UMLS:C0018523", "DOID:3981", "MESH:D006211"], "equivalent_curie_kw": ["Orphanet:157850", "UMLS:C0018523", "DOID:3981", "MESH:D006211"], "synonym_eng": ["Hallervorden Spatz Syndrome", "Dystrophy, Juvenile-Onset Neuroaxonal", "Neurodegeneration With Brain Iron Accumulation 1", "Neurodegeneration with brain iron accumulation type 1", "Neuroaxonal Dystrophy, Juvenile Onset", "Juvenile-Onset Neuroaxonal Dystrophy", "neurodegeneration with brain iron accumulation 1 ", "Dystrophies, Juvenile-Onset Neuroaxonal", "Pallidal Atrophy, Pigmentary", "PKAN", "NBIA1", "Pantothenate Kinase-Associated Neurodegeneration", "Neurodegeneration With Brain Iron Accumulation type 1", "Pkan Neuroaxonal Dystrophy, Juvenile-Onset", "Neurodegeneration with Brain Iron Accumulation Type 1", "Neuroaxonal Dystrophy, Juvenile-Onset", "Neurodegeneration, Pantothenate Kinase-Associated", "PKAN Neuroaxonal Dystrophy, Juvenile-Onset", "Degeneration, Pigmentary Pallidal", "brain Iron Accumulation type I syndrome", "PKAN Neuroaxonal Dystrophy, Juvenile Onset", "Neuroaxonal Dystrophies, Juvenile-Onset", "Pigmentary pallidal degeneration (disorder)", "Hallervorden-Spatz Syndrome", "Hallervorden-Spatz Disease", "Pigmentary Pallidal Atrophy", "Hallervorden-Spatz syndrome", "Hallervorden-Spatz disease", "Hallervorden Spatz Disease", "Pantothenate Kinase Associated Neurodegeneration", "Juvenile-Onset Neuroaxonal Dystrophies", "Pigmentary Pallidal Degeneration", "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1"], "score": 8.833874, "id_kw": "OMIM:234200", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_157850", "http://purl.obolibrary.org/obo/UMLS_C0018523", "http://purl.obolibrary.org/obo/DOID_3981", "http://purl.obolibrary.org/obo/MESH_D006211"], "label_kw": ["Neurodegeneration With Brain Iron Accumulation 1", "pantothenate kinase-associated neurodegeneration", "Pigmentary pallidal degeneration"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_234200", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_157850", "http://purl.obolibrary.org/obo/UMLS_C0018523", "http://purl.obolibrary.org/obo/DOID_3981", "http://purl.obolibrary.org/obo/MESH_D006211"], "_version_": 1580845511634583552, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_234200", "id": "OMIM:234200", "definition": ["Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.", "Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, severity, and cognitive involvement are variable (review by {7:Gregory et al., 2009}).\n\nPKAN has been classified clinically as 'classic,' 'atypical,' or 'intermediate.' In the classic form, patients present within the first decade of life with rapidly progressing disease and loss of ambulation approximately 15 years later. In the atypical form, patients have onset in the second decade with slow progression and maintain independent ambulation after 15 years. In the intermediate form, patients have early onset and slow progression or later onset and rapid progression. Patients with early onset tend to develop pigmentary retinopathy, whereas those with later onset tend to have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI ({10:Hayflick et al., 2003}; {19:Pellecchia et al., 2005}).\n\n{12:Kumar et al. (2006)} noted that the 'eye of the tiger' sign is not pathognomonic for PANK2 mutations. They reported 2 unrelated adult patients with cognitive dysfunction who had the characteristic sign on MRI but did not have mutations in the PANK2 gene.\n\n{7:Gregory et al. (2009)} provided a detailed review of the different forms of neurodegeneration with brain iron accumulation.\n\nIn addition, some patients with Kufor-Rakeb syndrome (OMIM:606693), also known as Parkinson disease-9 (PARK9), have iron deposition in the basal ganglia.\n\n<Subhead> Genetic Heterogeneity of Neurodegeneration with Brain Iron Accumulation\n\nNeurodegeneration with brain iron accumulation is an umbrella term that encompasses a group of genetically heterogeneous disorders. See also NBIA2A (OMIM:256600) and NBIA2B (OMIM:610217), both caused by mutation in the PLA2G6 gene (OMIM:603604); NBIA3 (OMIM:606159), caused by mutation in the FTL gene (OMIM:134790); NBIA4 (OMIM:614298), caused by mutation in the C19ORF12 gene (OMIM:614297); NBIA5 (OMIM:300894), caused by mutation in the WDR45 gene (OMIM:300526); and NBIA6 (OMIM:615643), caused by mutation in the COASY gene (OMIM:609855).\n\nSee review of {22:Schneider and Bhatia (2012)} on syndromes of neurodegeneration with brain iron accumulation, including Kufor-Rakeb disease (OMIM:606693) and aceruloplasminemia (OMIM:604290)."], "synonym_kw": ["Hallervorden Spatz Syndrome", "Dystrophy, Juvenile-Onset Neuroaxonal", "Neurodegeneration With Brain Iron Accumulation 1", "Neurodegeneration with brain iron accumulation type 1", "Neuroaxonal Dystrophy, Juvenile Onset", "Juvenile-Onset Neuroaxonal Dystrophy", "neurodegeneration with brain iron accumulation 1 ", "Dystrophies, Juvenile-Onset Neuroaxonal", "Pallidal Atrophy, Pigmentary", "PKAN", "NBIA1", "Pantothenate Kinase-Associated Neurodegeneration", "Neurodegeneration With Brain Iron Accumulation type 1", "Pkan Neuroaxonal Dystrophy, Juvenile-Onset", "Neurodegeneration with Brain Iron Accumulation Type 1", "Neuroaxonal Dystrophy, Juvenile-Onset", "Neurodegeneration, Pantothenate Kinase-Associated", "PKAN Neuroaxonal Dystrophy, Juvenile-Onset", "Degeneration, Pigmentary Pallidal", "brain Iron Accumulation type I syndrome", "PKAN Neuroaxonal Dystrophy, Juvenile Onset", "Neuroaxonal Dystrophies, Juvenile-Onset", "Pigmentary pallidal degeneration (disorder)", "Hallervorden-Spatz Syndrome", "Hallervorden-Spatz Disease", "Pigmentary Pallidal Atrophy", "Hallervorden-Spatz syndrome", "Hallervorden-Spatz disease", "Hallervorden Spatz Disease", "Pantothenate Kinase Associated Neurodegeneration", "Juvenile-Onset Neuroaxonal Dystrophies", "Pigmentary Pallidal Degeneration", "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1"], "synonym_std": ["Hallervorden Spatz Syndrome", "Dystrophy, Juvenile-Onset Neuroaxonal", "Neurodegeneration With Brain Iron Accumulation 1", "Neurodegeneration with brain iron accumulation type 1", "Neuroaxonal Dystrophy, Juvenile Onset", "Juvenile-Onset Neuroaxonal Dystrophy", "neurodegeneration with brain iron accumulation 1 ", "Dystrophies, Juvenile-Onset Neuroaxonal", "Pallidal Atrophy, Pigmentary", "PKAN", "NBIA1", "Pantothenate Kinase-Associated Neurodegeneration", "Neurodegeneration With Brain Iron Accumulation type 1", "Pkan Neuroaxonal Dystrophy, Juvenile-Onset", "Neurodegeneration with Brain Iron Accumulation Type 1", "Neuroaxonal Dystrophy, Juvenile-Onset", "Neurodegeneration, Pantothenate Kinase-Associated", "PKAN Neuroaxonal Dystrophy, Juvenile-Onset", "Degeneration, Pigmentary Pallidal", "brain Iron Accumulation type I syndrome", "PKAN Neuroaxonal Dystrophy, Juvenile Onset", "Neuroaxonal Dystrophies, Juvenile-Onset", "Pigmentary pallidal degeneration (disorder)", "Hallervorden-Spatz Syndrome", "Hallervorden-Spatz Disease", "Pigmentary Pallidal Atrophy", "Hallervorden-Spatz syndrome", "Hallervorden-Spatz disease", "Hallervorden Spatz Disease", "Pantothenate Kinase Associated Neurodegeneration", "Juvenile-Onset Neuroaxonal Dystrophies", "Pigmentary Pallidal Degeneration", "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1"], "label": ["Neurodegeneration With Brain Iron Accumulation 1", "pantothenate kinase-associated neurodegeneration", "Pigmentary pallidal degeneration"], "definition_eng": ["Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.", "Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, severity, and cognitive involvement are variable (review by {7:Gregory et al., 2009}).\n\nPKAN has been classified clinically as 'classic,' 'atypical,' or 'intermediate.' In the classic form, patients present within the first decade of life with rapidly progressing disease and loss of ambulation approximately 15 years later. In the atypical form, patients have onset in the second decade with slow progression and maintain independent ambulation after 15 years. In the intermediate form, patients have early onset and slow progression or later onset and rapid progression. Patients with early onset tend to develop pigmentary retinopathy, whereas those with later onset tend to have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI ({10:Hayflick et al., 2003}; {19:Pellecchia et al., 2005}).\n\n{12:Kumar et al. (2006)} noted that the 'eye of the tiger' sign is not pathognomonic for PANK2 mutations. They reported 2 unrelated adult patients with cognitive dysfunction who had the characteristic sign on MRI but did not have mutations in the PANK2 gene.\n\n{7:Gregory et al. (2009)} provided a detailed review of the different forms of neurodegeneration with brain iron accumulation.\n\nIn addition, some patients with Kufor-Rakeb syndrome (OMIM:606693), also known as Parkinson disease-9 (PARK9), have iron deposition in the basal ganglia.\n\n<Subhead> Genetic Heterogeneity of Neurodegeneration with Brain Iron Accumulation\n\nNeurodegeneration with brain iron accumulation is an umbrella term that encompasses a group of genetically heterogeneous disorders. See also NBIA2A (OMIM:256600) and NBIA2B (OMIM:610217), both caused by mutation in the PLA2G6 gene (OMIM:603604); NBIA3 (OMIM:606159), caused by mutation in the FTL gene (OMIM:134790); NBIA4 (OMIM:614298), caused by mutation in the C19ORF12 gene (OMIM:614297); NBIA5 (OMIM:300894), caused by mutation in the WDR45 gene (OMIM:300526); and NBIA6 (OMIM:615643), caused by mutation in the COASY gene (OMIM:609855).\n\nSee review of {22:Schneider and Bhatia (2012)} on syndromes of neurodegeneration with brain iron accumulation, including Kufor-Rakeb disease (OMIM:606693) and aceruloplasminemia (OMIM:604290)."], "equivalent_curie_std": ["Orphanet:157850", "UMLS:C0018523", "DOID:3981", "MESH:D006211"], "category": ["disease"]}, {"synonym": ["adPEO", "Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant type 1", "Progressive External Ophthalmoplegia, Autosomal Dominant 1", "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1; PEOA1", "Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, type 1", "PEOA1", "Progressive External Ophthalmoplegia, Autosomal Dominant, 1"], "equivalent_curie_eng": ["UMLS:CN202062", "Orphanet:254892", "UMLS:C1834846", "MESH:C563575"], "leaf": false, "category_std": ["disease"], "id_std": "OMIM:157640", "iri": "http://purl.obolibrary.org/obo/OMIM_157640", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_CN202062", "http://www.orpha.net/ORDO/Orphanet_254892", "http://purl.obolibrary.org/obo/UMLS_C1834846", "http://purl.obolibrary.org/obo/MESH_C563575"], "label_eng": ["Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1", "Autosomal dominant progressive external ophthalmoplegia", "Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1"], "definition_std": ["Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe ({3:Filosto et al., 2003}; {9:Luoma et al., 2004}).\n\nPEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes ({5:Lamantea et al., 2002}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA Deletions\n\nSee also PEOA2 (OMIM:609283), caused by mutation in the ANT1 gene (SLC25A4; OMIM:103220) on chromosome 4q34; PEOA3 (OMIM:609286), caused by mutation in the twinkle gene (C10ORF2; OMIM:606075) on chromosome 10q24; PEOA4 (OMIM:610131), caused by mutation in the POLG2 gene (OMIM:604983) on chromosome 17q; PEOA5 (OMIM:613077), caused by mutation in the RRM2B gene (OMIM:604712) on chromosome 8q23; and PEOA6 (OMIM:615156), caused by mutation in the DNA2 gene (OMIM:601810) on chromosome 10q.", "See http://www.omim.org/entry/157640"], "id_eng": "OMIM:157640", "definition_kw": ["Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe ({3:Filosto et al., 2003}; {9:Luoma et al., 2004}).\n\nPEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes ({5:Lamantea et al., 2002}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA Deletions\n\nSee also PEOA2 (OMIM:609283), caused by mutation in the ANT1 gene (SLC25A4; OMIM:103220) on chromosome 4q34; PEOA3 (OMIM:609286), caused by mutation in the twinkle gene (C10ORF2; OMIM:606075) on chromosome 10q24; PEOA4 (OMIM:610131), caused by mutation in the POLG2 gene (OMIM:604983) on chromosome 17q; PEOA5 (OMIM:613077), caused by mutation in the RRM2B gene (OMIM:604712) on chromosome 8q23; and PEOA6 (OMIM:615156), caused by mutation in the DNA2 gene (OMIM:601810) on chromosome 10q.", "See http://www.omim.org/entry/157640"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_CN202062", "http://www.orpha.net/ORDO/Orphanet_254892", "http://purl.obolibrary.org/obo/UMLS_C1834846", "http://purl.obolibrary.org/obo/MESH_C563575"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_157640", "label_std": ["Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1", "Autosomal dominant progressive external ophthalmoplegia", "Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1"], "equivalent_curie": ["UMLS:CN202062", "Orphanet:254892", "UMLS:C1834846", "MESH:C563575"], "equivalent_curie_kw": ["UMLS:CN202062", "Orphanet:254892", "UMLS:C1834846", "MESH:C563575"], "synonym_eng": ["adPEO", "Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant type 1", "Progressive External Ophthalmoplegia, Autosomal Dominant 1", "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1; PEOA1", "Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, type 1", "PEOA1", "Progressive External Ophthalmoplegia, Autosomal Dominant, 1"], "score": 7.838543, "id_kw": "OMIM:157640", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_CN202062", "http://www.orpha.net/ORDO/Orphanet_254892", "http://purl.obolibrary.org/obo/UMLS_C1834846", "http://purl.obolibrary.org/obo/MESH_C563575"], "label_kw": ["Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1", "Autosomal dominant progressive external ophthalmoplegia", "Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_157640", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_CN202062", "http://www.orpha.net/ORDO/Orphanet_254892", "http://purl.obolibrary.org/obo/UMLS_C1834846", "http://purl.obolibrary.org/obo/MESH_C563575"], "_version_": 1580845510075351040, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_157640", "id": "OMIM:157640", "definition": ["Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe ({3:Filosto et al., 2003}; {9:Luoma et al., 2004}).\n\nPEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes ({5:Lamantea et al., 2002}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA Deletions\n\nSee also PEOA2 (OMIM:609283), caused by mutation in the ANT1 gene (SLC25A4; OMIM:103220) on chromosome 4q34; PEOA3 (OMIM:609286), caused by mutation in the twinkle gene (C10ORF2; OMIM:606075) on chromosome 10q24; PEOA4 (OMIM:610131), caused by mutation in the POLG2 gene (OMIM:604983) on chromosome 17q; PEOA5 (OMIM:613077), caused by mutation in the RRM2B gene (OMIM:604712) on chromosome 8q23; and PEOA6 (OMIM:615156), caused by mutation in the DNA2 gene (OMIM:601810) on chromosome 10q.", "See http://www.omim.org/entry/157640"], "synonym_kw": ["adPEO", "Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant type 1", "Progressive External Ophthalmoplegia, Autosomal Dominant 1", "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1; PEOA1", "Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, type 1", "PEOA1", "Progressive External Ophthalmoplegia, Autosomal Dominant, 1"], "synonym_std": ["adPEO", "Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant type 1", "Progressive External Ophthalmoplegia, Autosomal Dominant 1", "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1; PEOA1", "Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, type 1", "PEOA1", "Progressive External Ophthalmoplegia, Autosomal Dominant, 1"], "label": ["Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1", "Autosomal dominant progressive external ophthalmoplegia", "Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1"], "definition_eng": ["Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe ({3:Filosto et al., 2003}; {9:Luoma et al., 2004}).\n\nPEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes ({5:Lamantea et al., 2002}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA Deletions\n\nSee also PEOA2 (OMIM:609283), caused by mutation in the ANT1 gene (SLC25A4; OMIM:103220) on chromosome 4q34; PEOA3 (OMIM:609286), caused by mutation in the twinkle gene (C10ORF2; OMIM:606075) on chromosome 10q24; PEOA4 (OMIM:610131), caused by mutation in the POLG2 gene (OMIM:604983) on chromosome 17q; PEOA5 (OMIM:613077), caused by mutation in the RRM2B gene (OMIM:604712) on chromosome 8q23; and PEOA6 (OMIM:615156), caused by mutation in the DNA2 gene (OMIM:601810) on chromosome 10q.", "See http://www.omim.org/entry/157640"], "equivalent_curie_std": ["UMLS:CN202062", "Orphanet:254892", "UMLS:C1834846", "MESH:C563575"], "category": ["disease"]}, {"synonym": ["Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions", "Frontotemporal Dementia, Ubiquitin-Positive", "Ftld-Tdp, Grn-Related", "Aphasia, Primary Progressive", "Dementia, Hereditary Dysphasic Disinhibition", "Frontotemporal Dementia With Tdp43 Inclusions, Grn-Related", "FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED"], "equivalent_curie_eng": ["UMLS:C1843792", "DOID:0060672"], "leaf": false, "category_std": ["disease"], "id_std": "OMIM:607485", "iri": "http://purl.obolibrary.org/obo/OMIM_607485", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C1843792", "http://purl.obolibrary.org/obo/DOID_0060672"], "label_eng": ["Frontotemporal dementia, ubiquitin-positive", "Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related", "Grn-related frontotemporal lobar degeneration with Tdp43 inclusions"], "definition_std": ["A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31.", "Clinically, FTLD-TDP is a type of frontotemporal dementia (see FTD; OMIM:600274) which shows variable phenotypic expression, but most commonly presents with social, behavioral, or language deterioration, rather than memory or motor deficits. Other variations of the phenotype have been referred to as 'dysphasic disinhibition dementia' and 'primary progressive aphasia' (PPA) ({19:Huey et al., 2006}; {31:Mukherjee et al., 2006}; {28:Mesulam et al., 2007}). Some patients may present with a clinical diagnosis of Alzheimer disease (AD; OMIM:104300) or Parkinson disease (PD; OMIM:168600), which are part of the phenotypic spectrum of this disorder ({5:Brouwers et al., 2007}).\n\n<Subhead> Genetic Heterogeneity of FTLD-TDP\n\nThe specific presence of TDP43 (TARDBP; OMIM:605078)-positive inclusions on neuropathologic examination defines a genetically heterogeneous group of dementias known collectively as 'FTLD-TDP.' FTLD-TDP is a neuropathologic diagnosis; only about 20% of patients with this neuropathologic diagnosis have GRN mutations (review by {43:Van Deerlin et al., 2010}).\n\nTDP43-positive inclusions also occur in ALS10 (OMIM:612069), caused by mutation in the TARDBP gene (OMIM:605078); IBMPFD (OMIM:167320), caused by mutation in the VCP gene (OMIM:601023); and FTDALS (OMIM:105550), caused by mutation in the C9ORF72 gene (OMIM:614260).\n\n{26:Mackenzie and Rademakers (2007)} provided a detailed review of the molecular genetics of FTLD, with special emphasis on FTLDU. {6:Cairns and Ghoshal (2010)} reviewed the molecular pathology and genetic heterogeneity of FTLD, including FTLD-TDP, and also noted that FTLDU is now referred to as FTLD-TDP."], "id_eng": "OMIM:607485", "definition_kw": ["A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31.", "Clinically, FTLD-TDP is a type of frontotemporal dementia (see FTD; OMIM:600274) which shows variable phenotypic expression, but most commonly presents with social, behavioral, or language deterioration, rather than memory or motor deficits. Other variations of the phenotype have been referred to as 'dysphasic disinhibition dementia' and 'primary progressive aphasia' (PPA) ({19:Huey et al., 2006}; {31:Mukherjee et al., 2006}; {28:Mesulam et al., 2007}). Some patients may present with a clinical diagnosis of Alzheimer disease (AD; OMIM:104300) or Parkinson disease (PD; OMIM:168600), which are part of the phenotypic spectrum of this disorder ({5:Brouwers et al., 2007}).\n\n<Subhead> Genetic Heterogeneity of FTLD-TDP\n\nThe specific presence of TDP43 (TARDBP; OMIM:605078)-positive inclusions on neuropathologic examination defines a genetically heterogeneous group of dementias known collectively as 'FTLD-TDP.' FTLD-TDP is a neuropathologic diagnosis; only about 20% of patients with this neuropathologic diagnosis have GRN mutations (review by {43:Van Deerlin et al., 2010}).\n\nTDP43-positive inclusions also occur in ALS10 (OMIM:612069), caused by mutation in the TARDBP gene (OMIM:605078); IBMPFD (OMIM:167320), caused by mutation in the VCP gene (OMIM:601023); and FTDALS (OMIM:105550), caused by mutation in the C9ORF72 gene (OMIM:614260).\n\n{26:Mackenzie and Rademakers (2007)} provided a detailed review of the molecular genetics of FTLD, with special emphasis on FTLDU. {6:Cairns and Ghoshal (2010)} reviewed the molecular pathology and genetic heterogeneity of FTLD, including FTLD-TDP, and also noted that FTLDU is now referred to as FTLD-TDP."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C1843792", "http://purl.obolibrary.org/obo/DOID_0060672"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_607485", "label_std": ["Frontotemporal dementia, ubiquitin-positive", "Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related", "Grn-related frontotemporal lobar degeneration with Tdp43 inclusions"], "equivalent_curie": ["UMLS:C1843792", "DOID:0060672"], "equivalent_curie_kw": ["UMLS:C1843792", "DOID:0060672"], "synonym_eng": ["Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions", "Frontotemporal Dementia, Ubiquitin-Positive", "Ftld-Tdp, Grn-Related", "Aphasia, Primary Progressive", "Dementia, Hereditary Dysphasic Disinhibition", "Frontotemporal Dementia With Tdp43 Inclusions, Grn-Related", "FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED"], "score": 7.838543, "id_kw": "OMIM:607485", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C1843792", "http://purl.obolibrary.org/obo/DOID_0060672"], "label_kw": ["Frontotemporal dementia, ubiquitin-positive", "Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related", "Grn-related frontotemporal lobar degeneration with Tdp43 inclusions"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_607485", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C1843792", "http://purl.obolibrary.org/obo/DOID_0060672"], "_version_": 1580845511638777856, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_607485", "id": "OMIM:607485", "definition": ["A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31.", "Clinically, FTLD-TDP is a type of frontotemporal dementia (see FTD; OMIM:600274) which shows variable phenotypic expression, but most commonly presents with social, behavioral, or language deterioration, rather than memory or motor deficits. Other variations of the phenotype have been referred to as 'dysphasic disinhibition dementia' and 'primary progressive aphasia' (PPA) ({19:Huey et al., 2006}; {31:Mukherjee et al., 2006}; {28:Mesulam et al., 2007}). Some patients may present with a clinical diagnosis of Alzheimer disease (AD; OMIM:104300) or Parkinson disease (PD; OMIM:168600), which are part of the phenotypic spectrum of this disorder ({5:Brouwers et al., 2007}).\n\n<Subhead> Genetic Heterogeneity of FTLD-TDP\n\nThe specific presence of TDP43 (TARDBP; OMIM:605078)-positive inclusions on neuropathologic examination defines a genetically heterogeneous group of dementias known collectively as 'FTLD-TDP.' FTLD-TDP is a neuropathologic diagnosis; only about 20% of patients with this neuropathologic diagnosis have GRN mutations (review by {43:Van Deerlin et al., 2010}).\n\nTDP43-positive inclusions also occur in ALS10 (OMIM:612069), caused by mutation in the TARDBP gene (OMIM:605078); IBMPFD (OMIM:167320), caused by mutation in the VCP gene (OMIM:601023); and FTDALS (OMIM:105550), caused by mutation in the C9ORF72 gene (OMIM:614260).\n\n{26:Mackenzie and Rademakers (2007)} provided a detailed review of the molecular genetics of FTLD, with special emphasis on FTLDU. {6:Cairns and Ghoshal (2010)} reviewed the molecular pathology and genetic heterogeneity of FTLD, including FTLD-TDP, and also noted that FTLDU is now referred to as FTLD-TDP."], "synonym_kw": ["Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions", "Frontotemporal Dementia, Ubiquitin-Positive", "Ftld-Tdp, Grn-Related", "Aphasia, Primary Progressive", "Dementia, Hereditary Dysphasic Disinhibition", "Frontotemporal Dementia With Tdp43 Inclusions, Grn-Related", "FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED"], "synonym_std": ["Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions", "Frontotemporal Dementia, Ubiquitin-Positive", "Ftld-Tdp, Grn-Related", "Aphasia, Primary Progressive", "Dementia, Hereditary Dysphasic Disinhibition", "Frontotemporal Dementia With Tdp43 Inclusions, Grn-Related", "FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED"], "label": ["Frontotemporal dementia, ubiquitin-positive", "Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related", "Grn-related frontotemporal lobar degeneration with Tdp43 inclusions"], "definition_eng": ["A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31.", "Clinically, FTLD-TDP is a type of frontotemporal dementia (see FTD; OMIM:600274) which shows variable phenotypic expression, but most commonly presents with social, behavioral, or language deterioration, rather than memory or motor deficits. Other variations of the phenotype have been referred to as 'dysphasic disinhibition dementia' and 'primary progressive aphasia' (PPA) ({19:Huey et al., 2006}; {31:Mukherjee et al., 2006}; {28:Mesulam et al., 2007}). Some patients may present with a clinical diagnosis of Alzheimer disease (AD; OMIM:104300) or Parkinson disease (PD; OMIM:168600), which are part of the phenotypic spectrum of this disorder ({5:Brouwers et al., 2007}).\n\n<Subhead> Genetic Heterogeneity of FTLD-TDP\n\nThe specific presence of TDP43 (TARDBP; OMIM:605078)-positive inclusions on neuropathologic examination defines a genetically heterogeneous group of dementias known collectively as 'FTLD-TDP.' FTLD-TDP is a neuropathologic diagnosis; only about 20% of patients with this neuropathologic diagnosis have GRN mutations (review by {43:Van Deerlin et al., 2010}).\n\nTDP43-positive inclusions also occur in ALS10 (OMIM:612069), caused by mutation in the TARDBP gene (OMIM:605078); IBMPFD (OMIM:167320), caused by mutation in the VCP gene (OMIM:601023); and FTDALS (OMIM:105550), caused by mutation in the C9ORF72 gene (OMIM:614260).\n\n{26:Mackenzie and Rademakers (2007)} provided a detailed review of the molecular genetics of FTLD, with special emphasis on FTLDU. {6:Cairns and Ghoshal (2010)} reviewed the molecular pathology and genetic heterogeneity of FTLD, including FTLD-TDP, and also noted that FTLDU is now referred to as FTLD-TDP."], "equivalent_curie_std": ["UMLS:C1843792", "DOID:0060672"], "category": ["disease"]}, {"synonym": ["alpers"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK26471", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK26471", "label_eng": ["POLG-Related Disorders"], "definition_std": ["POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. These phenotypes exemplify the diversity that can result from mutation of a given gene. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of the POLG-related disorders ranges from infancy to late adulthood.Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life up to about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations of POLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, Parkinsonism, hypogonadism, and cataracts (in what has been called ???chronic progressive external ophthalmoplegia plus,??? or ???CPEO+???). [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK26471]"], "id_eng": "GeneReviews:NBK26471", "definition_kw": ["POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. These phenotypes exemplify the diversity that can result from mutation of a given gene. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of the POLG-related disorders ranges from infancy to late adulthood.Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life up to about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations of POLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, Parkinsonism, hypogonadism, and cataracts (in what has been called ???chronic progressive external ophthalmoplegia plus,??? or ???CPEO+???). [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK26471]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK26471", "label_std": ["POLG-Related Disorders"], "synonym_eng": ["alpers"], "score": 6.5632887, "id_kw": "GeneReviews:NBK26471", "label_kw": ["POLG-Related Disorders"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK26471", "_version_": 1580845510658359296, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK26471", "id": "GeneReviews:NBK26471", "definition": ["POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. These phenotypes exemplify the diversity that can result from mutation of a given gene. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of the POLG-related disorders ranges from infancy to late adulthood.Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life up to about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations of POLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, Parkinsonism, hypogonadism, and cataracts (in what has been called ???chronic progressive external ophthalmoplegia plus,??? or ???CPEO+???). [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK26471]"], "synonym_kw": ["alpers"], "synonym_std": ["alpers"], "label": ["POLG-Related Disorders"], "definition_eng": ["POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. These phenotypes exemplify the diversity that can result from mutation of a given gene. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of the POLG-related disorders ranges from infancy to late adulthood.Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life up to about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations of POLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, Parkinsonism, hypogonadism, and cataracts (in what has been called ???chronic progressive external ophthalmoplegia plus,??? or ???CPEO+???). [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK26471]"], "category": ["disease"]}, {"synonym": ["Idiopathic basal ganglia calcification type 1", "Cerebral Calcification, Nonarteriosclerotic, Idiopathic, Adult-Onset", "Idiopathic basal ganglia calcification", "Fahr Disease, Familial, Formerly", "Familial idiopathic basal ganglia calcification", "Cerebrovascular ferrocalcinosis", "Basal Ganglia Calcification, Idiopathic, 3", "Fibgc", "Ferrocalcinosis, Cerebrovascular", "Basal Ganglia Calcification, Idiopathic, 1", "PFBC", "Primary familial brain calcification", "Basal Ganglia Calcification, Idiopathic, 3, Formerly", "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1", "BSPDC", "Striopallidodentate Calcinosis", "Adult-onset idiopathic nonarteriosclerotic cerebral calcification", "Striopallidodentate Calcinosis, Bilateral", "Bilateral Striopallidodentate Calcinosis", "Basal Ganglia Calcification, Idiopathic, type 1", "Striopallidodentate calcinosis, autosomal dominant, adult onset", "Fahr Disease, Familial", "Striopallidodentate Calcinosis, Autosomal Dominant, Adult-Onset", "IBGC1"], "equivalent_curie_eng": ["Orphanet:1980", "MESH:C536275"], "leaf": false, "category_std": ["disease"], "id_std": "OMIM:213600", "iri": "http://purl.obolibrary.org/obo/OMIM_213600", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_1980", "http://purl.obolibrary.org/obo/MESH_C536275"], "label_eng": ["Basal Ganglia Calcification, Idiopathic, 1", "Idiopathic basal ganglia calcification 1", "Bilateral striopallidodentate calcinosis"], "definition_std": ["Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.", "Familial idiopathic basal ganglia calcification is an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Patients with calcifications can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase, and parathyroid hormone are normal. The typical age at clinical onset is between 30 and 50 years (summary by {42:Wang et al., 2012}).\n\nCalcification of the basal ganglia is a nonspecific finding in many medical conditions, including infectious, metabolic, and genetic syndromes. In addition, calcification of the basal ganglia is observed as an incidental finding in approximately 0.7 to 1.2% of CT scans ({23:Koller et al., 1979}; {19:Harrington et al., 1981}; {14:Forstl et al., 1992}). These incidental calcifications are usually benign and have no clear etiology, especially in patients over 60 years of age ({17:Geschwind et al., 1999}). {14:Forstl et al. (1992)} found no increased risk for dementia, cerebral infarction, seizures, alcoholism, vertigo, or headache in 166 patients with calcification of the basal ganglia compared to 622 individuals without calcification.\n\n<Subhead> Genetic Heterogeneity of Idiopathic Basal Ganglia Calcification\n\nIBGC2 (OMIM:606656) has been mapped to chromosome 2q37. IBGC4 (OMIM:615007) is caused by mutation in the PDGFRB gene (OMIM:173410) on chromosome 5q32; IBGC5 (OMIM:615483) is caused by mutation in the PDGFB gene (OMIM:190040) on chromosome 22q12; and IBGC6 (OMIM:616413) is caused by mutation in the XPR1 gene (OMIM:605237) on 1q25.\n\nSee OMIM:114100 for a childhood-onset form of idiopathic basal ganglia calcification.\n\nThe symbol IBGC3 previously referred to the locus on chromosome 8p11 that includes the SLC20A2 gene ({8:Dai et al., 2010}). However, the family that originally defined the putative IBGC1 locus on chromosome 14q ({17:Geschwind et al., 1999}) was later found to carry a pathogenic mutation in the SLC20A2 gene ({20:Hsu et al., 2013}), and the IBGC locus on chromosome 14q has not been replicated ({36:Oliveira et al., 2004}; {20:Hsu et al., 2013}). Thus, the symbol IBGC1 now refers to the disorder caused by mutation in the SLC20A2 gene on chromosome 8p11 and the symbol IGBC3 is no longer used."], "id_eng": "OMIM:213600", "definition_kw": ["Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.", "Familial idiopathic basal ganglia calcification is an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Patients with calcifications can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase, and parathyroid hormone are normal. The typical age at clinical onset is between 30 and 50 years (summary by {42:Wang et al., 2012}).\n\nCalcification of the basal ganglia is a nonspecific finding in many medical conditions, including infectious, metabolic, and genetic syndromes. In addition, calcification of the basal ganglia is observed as an incidental finding in approximately 0.7 to 1.2% of CT scans ({23:Koller et al., 1979}; {19:Harrington et al., 1981}; {14:Forstl et al., 1992}). These incidental calcifications are usually benign and have no clear etiology, especially in patients over 60 years of age ({17:Geschwind et al., 1999}). {14:Forstl et al. (1992)} found no increased risk for dementia, cerebral infarction, seizures, alcoholism, vertigo, or headache in 166 patients with calcification of the basal ganglia compared to 622 individuals without calcification.\n\n<Subhead> Genetic Heterogeneity of Idiopathic Basal Ganglia Calcification\n\nIBGC2 (OMIM:606656) has been mapped to chromosome 2q37. IBGC4 (OMIM:615007) is caused by mutation in the PDGFRB gene (OMIM:173410) on chromosome 5q32; IBGC5 (OMIM:615483) is caused by mutation in the PDGFB gene (OMIM:190040) on chromosome 22q12; and IBGC6 (OMIM:616413) is caused by mutation in the XPR1 gene (OMIM:605237) on 1q25.\n\nSee OMIM:114100 for a childhood-onset form of idiopathic basal ganglia calcification.\n\nThe symbol IBGC3 previously referred to the locus on chromosome 8p11 that includes the SLC20A2 gene ({8:Dai et al., 2010}). However, the family that originally defined the putative IBGC1 locus on chromosome 14q ({17:Geschwind et al., 1999}) was later found to carry a pathogenic mutation in the SLC20A2 gene ({20:Hsu et al., 2013}), and the IBGC locus on chromosome 14q has not been replicated ({36:Oliveira et al., 2004}; {20:Hsu et al., 2013}). Thus, the symbol IBGC1 now refers to the disorder caused by mutation in the SLC20A2 gene on chromosome 8p11 and the symbol IGBC3 is no longer used."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_1980", "http://purl.obolibrary.org/obo/MESH_C536275"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_213600", "label_std": ["Basal Ganglia Calcification, Idiopathic, 1", "Idiopathic basal ganglia calcification 1", "Bilateral striopallidodentate calcinosis"], "equivalent_curie": ["Orphanet:1980", "MESH:C536275"], "equivalent_curie_kw": ["Orphanet:1980", "MESH:C536275"], "synonym_eng": ["Idiopathic basal ganglia calcification type 1", "Cerebral Calcification, Nonarteriosclerotic, Idiopathic, Adult-Onset", "Idiopathic basal ganglia calcification", "Fahr Disease, Familial, Formerly", "Familial idiopathic basal ganglia calcification", "Cerebrovascular ferrocalcinosis", "Basal Ganglia Calcification, Idiopathic, 3", "Fibgc", "Ferrocalcinosis, Cerebrovascular", "Basal Ganglia Calcification, Idiopathic, 1", "PFBC", "Primary familial brain calcification", "Basal Ganglia Calcification, Idiopathic, 3, Formerly", "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1", "BSPDC", "Striopallidodentate Calcinosis", "Adult-onset idiopathic nonarteriosclerotic cerebral calcification", "Striopallidodentate Calcinosis, Bilateral", "Bilateral Striopallidodentate Calcinosis", "Basal Ganglia Calcification, Idiopathic, type 1", "Striopallidodentate calcinosis, autosomal dominant, adult onset", "Fahr Disease, Familial", "Striopallidodentate Calcinosis, Autosomal Dominant, Adult-Onset", "IBGC1"], "score": 6.5632887, "id_kw": "OMIM:213600", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_1980", "http://purl.obolibrary.org/obo/MESH_C536275"], "label_kw": ["Basal Ganglia Calcification, Idiopathic, 1", "Idiopathic basal ganglia calcification 1", "Bilateral striopallidodentate calcinosis"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_213600", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_1980", "http://purl.obolibrary.org/obo/MESH_C536275"], "_version_": 1580845512202911745, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_213600", "id": "OMIM:213600", "definition": ["Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.", "Familial idiopathic basal ganglia calcification is an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Patients with calcifications can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase, and parathyroid hormone are normal. The typical age at clinical onset is between 30 and 50 years (summary by {42:Wang et al., 2012}).\n\nCalcification of the basal ganglia is a nonspecific finding in many medical conditions, including infectious, metabolic, and genetic syndromes. In addition, calcification of the basal ganglia is observed as an incidental finding in approximately 0.7 to 1.2% of CT scans ({23:Koller et al., 1979}; {19:Harrington et al., 1981}; {14:Forstl et al., 1992}). These incidental calcifications are usually benign and have no clear etiology, especially in patients over 60 years of age ({17:Geschwind et al., 1999}). {14:Forstl et al. (1992)} found no increased risk for dementia, cerebral infarction, seizures, alcoholism, vertigo, or headache in 166 patients with calcification of the basal ganglia compared to 622 individuals without calcification.\n\n<Subhead> Genetic Heterogeneity of Idiopathic Basal Ganglia Calcification\n\nIBGC2 (OMIM:606656) has been mapped to chromosome 2q37. IBGC4 (OMIM:615007) is caused by mutation in the PDGFRB gene (OMIM:173410) on chromosome 5q32; IBGC5 (OMIM:615483) is caused by mutation in the PDGFB gene (OMIM:190040) on chromosome 22q12; and IBGC6 (OMIM:616413) is caused by mutation in the XPR1 gene (OMIM:605237) on 1q25.\n\nSee OMIM:114100 for a childhood-onset form of idiopathic basal ganglia calcification.\n\nThe symbol IBGC3 previously referred to the locus on chromosome 8p11 that includes the SLC20A2 gene ({8:Dai et al., 2010}). However, the family that originally defined the putative IBGC1 locus on chromosome 14q ({17:Geschwind et al., 1999}) was later found to carry a pathogenic mutation in the SLC20A2 gene ({20:Hsu et al., 2013}), and the IBGC locus on chromosome 14q has not been replicated ({36:Oliveira et al., 2004}; {20:Hsu et al., 2013}). Thus, the symbol IBGC1 now refers to the disorder caused by mutation in the SLC20A2 gene on chromosome 8p11 and the symbol IGBC3 is no longer used."], "synonym_kw": ["Idiopathic basal ganglia calcification type 1", "Cerebral Calcification, Nonarteriosclerotic, Idiopathic, Adult-Onset", "Idiopathic basal ganglia calcification", "Fahr Disease, Familial, Formerly", "Familial idiopathic basal ganglia calcification", "Cerebrovascular ferrocalcinosis", "Basal Ganglia Calcification, Idiopathic, 3", "Fibgc", "Ferrocalcinosis, Cerebrovascular", "Basal Ganglia Calcification, Idiopathic, 1", "PFBC", "Primary familial brain calcification", "Basal Ganglia Calcification, Idiopathic, 3, Formerly", "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1", "BSPDC", "Striopallidodentate Calcinosis", "Adult-onset idiopathic nonarteriosclerotic cerebral calcification", "Striopallidodentate Calcinosis, Bilateral", "Bilateral Striopallidodentate Calcinosis", "Basal Ganglia Calcification, Idiopathic, type 1", "Striopallidodentate calcinosis, autosomal dominant, adult onset", "Fahr Disease, Familial", "Striopallidodentate Calcinosis, Autosomal Dominant, Adult-Onset", "IBGC1"], "synonym_std": ["Idiopathic basal ganglia calcification type 1", "Cerebral Calcification, Nonarteriosclerotic, Idiopathic, Adult-Onset", "Idiopathic basal ganglia calcification", "Fahr Disease, Familial, Formerly", "Familial idiopathic basal ganglia calcification", "Cerebrovascular ferrocalcinosis", "Basal Ganglia Calcification, Idiopathic, 3", "Fibgc", "Ferrocalcinosis, Cerebrovascular", "Basal Ganglia Calcification, Idiopathic, 1", "PFBC", "Primary familial brain calcification", "Basal Ganglia Calcification, Idiopathic, 3, Formerly", "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1", "BSPDC", "Striopallidodentate Calcinosis", "Adult-onset idiopathic nonarteriosclerotic cerebral calcification", "Striopallidodentate Calcinosis, Bilateral", "Bilateral Striopallidodentate Calcinosis", "Basal Ganglia Calcification, Idiopathic, type 1", "Striopallidodentate calcinosis, autosomal dominant, adult onset", "Fahr Disease, Familial", "Striopallidodentate Calcinosis, Autosomal Dominant, Adult-Onset", "IBGC1"], "label": ["Basal Ganglia Calcification, Idiopathic, 1", "Idiopathic basal ganglia calcification 1", "Bilateral striopallidodentate calcinosis"], "definition_eng": ["Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.", "Familial idiopathic basal ganglia calcification is an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Patients with calcifications can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase, and parathyroid hormone are normal. The typical age at clinical onset is between 30 and 50 years (summary by {42:Wang et al., 2012}).\n\nCalcification of the basal ganglia is a nonspecific finding in many medical conditions, including infectious, metabolic, and genetic syndromes. In addition, calcification of the basal ganglia is observed as an incidental finding in approximately 0.7 to 1.2% of CT scans ({23:Koller et al., 1979}; {19:Harrington et al., 1981}; {14:Forstl et al., 1992}). These incidental calcifications are usually benign and have no clear etiology, especially in patients over 60 years of age ({17:Geschwind et al., 1999}). {14:Forstl et al. (1992)} found no increased risk for dementia, cerebral infarction, seizures, alcoholism, vertigo, or headache in 166 patients with calcification of the basal ganglia compared to 622 individuals without calcification.\n\n<Subhead> Genetic Heterogeneity of Idiopathic Basal Ganglia Calcification\n\nIBGC2 (OMIM:606656) has been mapped to chromosome 2q37. IBGC4 (OMIM:615007) is caused by mutation in the PDGFRB gene (OMIM:173410) on chromosome 5q32; IBGC5 (OMIM:615483) is caused by mutation in the PDGFB gene (OMIM:190040) on chromosome 22q12; and IBGC6 (OMIM:616413) is caused by mutation in the XPR1 gene (OMIM:605237) on 1q25.\n\nSee OMIM:114100 for a childhood-onset form of idiopathic basal ganglia calcification.\n\nThe symbol IBGC3 previously referred to the locus on chromosome 8p11 that includes the SLC20A2 gene ({8:Dai et al., 2010}). However, the family that originally defined the putative IBGC1 locus on chromosome 14q ({17:Geschwind et al., 1999}) was later found to carry a pathogenic mutation in the SLC20A2 gene ({20:Hsu et al., 2013}), and the IBGC locus on chromosome 14q has not been replicated ({36:Oliveira et al., 2004}; {20:Hsu et al., 2013}). Thus, the symbol IBGC1 now refers to the disorder caused by mutation in the SLC20A2 gene on chromosome 8p11 and the symbol IGBC3 is no longer used."], "equivalent_curie_std": ["Orphanet:1980", "MESH:C536275"], "category": ["disease"]}, {"synonym": ["AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1", "Amyotrophic Lateral Sclerosis, Autosomal Dominant", "Amyotrophic lateral sclerosis type 1", "Amyotrophic Lateral Sclerosis 1, Autosomal Recessive", "Amyotrophic Lateral Sclerosis 1, Familial", "ALS1", "amyotrophic lateral sclerosis 1", "Amyotrophic Lateral Sclerosis, Sporadic", "Amyotrophic Lateral Sclerosis type 1", "Amyotrophic Lateral Sclerosis, Familial", "Amyotrophic Lateral Sclerosis 1, Autosomal Dominant"], "equivalent_curie_eng": ["UMLS:C1862939", "MESH:C531617", "DOID:0060193"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:105400", "iri": "http://purl.obolibrary.org/obo/OMIM_105400", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C1862939", "http://purl.obolibrary.org/obo/MESH_C531617", "http://purl.obolibrary.org/obo/DOID_0060193"], "label_eng": ["Amyotrophic lateral sclerosis type 1", "amyotrophic lateral sclerosis type 1", "Amyotrophic Lateral Sclerosis 1"], "definition_std": ["Amyotrophic lateral sclerosis is a neurodegenerative disorder characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. ALS usually begins with asymmetric involvement of the muscles in middle adult life. Approximately 10% of ALS cases are familial ({103:Siddique and Deng, 1996}). ALS is sometimes referred to as 'Lou Gehrig disease' after the famous American baseball player who was diagnosed with the disorder.\n\n{97:Rowland and Shneider (2001)} and {60:Kunst (2004)} provided extensive reviews of ALS. Some forms of ALS occur with frontotemporal dementia (FTD).\n\nFamilial ALS is distinct from a form of ALS with dementia reported in cases on Guam (OMIM:105500) ({33:Espinosa et al., 1962}; {52:Husquinet and Franck, 1980}), in which the histology is different and dementia and parkinsonism complicate the clinical picture.\n\n<Subhead> Genetic Heterogeneity of Amyotrophic Lateral Sclerosis\n\nALS is a genetically heterogeneous disorder, with several causative genes and mapped loci.\n\nALS6 (OMIM:608030) is caused by mutation in the FUS gene (OMIM:137070) on chromosome 16p11.2; ALS8 (OMIM:608627) is caused by mutation in the VAPB gene (OMIM:605704) on chromosome 13; ALS9 (OMIM:611895) is caused by mutation in the ANG gene (OMIM:105850) on chromosome 14q11; ALS10 (OMIM:612069) is caused by mutation in the TARDBP gene (OMIM:605078) on 1p36.2; ALS11 (OMIM:612577) is caused by mutation in the FIG4 gene (OMIM:609390) on chromosome 6q21; ALS12 (OMIM:613435) is caused by mutation in the OPTN gene (OMIM:602432) on chromosome 10p; ALS14 (OMIM:613954) is caused by mutation in the VCP gene (OMIM:601023) gene on chromosome 9p13-p12; ALS15 (OMIM:300857) is caused by mutation in the UBQLN2 gene (OMIM:300264) on chromosome Xp11.23-p11.1; ALS17 (OMIM:614696) is caused by mutation in the CHMP2B gene (OMIM:609512) on chromosome 3p11; ALS18 (OMIM:614808) is caused by mutation in the PFN1 gene (OMIM:176610) on chromosome 17p13.3; ALS19 (OMIM:615515) is caused by mutation in the ERBB4 gene (OMIM:600543) on chromosome 2q34; ALS20 (OMIM:615426) is caused by mutation in the HNRNPA1 gene (OMIM:164017) on chromosome 12q13; ALS21 (OMIM:606070) is caused by mutation in the MATR3 gene (OMIM:164015) on chromosome 5q31; and ALS22 (OMIM:616208) is caused by mutation in the TUBA4A gene (OMIM:191110) on chromosome 2q35. See also FTDALS (OMIM:105550), caused by mutation in the C9ORF72 gene (OMIM:614260) on chromosome 9p21.\n\nLoci associated with the disorder are found on chromosomes 18q21 (ALS3; OMIM:606640) and 20p13 (ALS7; OMIM:608031).\n\nIntermediate-length polyglutamine repeat expansions in the ATXN2 gene (OMIM:601517) contribute to susceptibility to ALS (ALS13; OMIM:183090). Susceptibility to ALS has been associated with mutations in other genes, including deletions or insertions in the gene encoding the heavy neurofilament subunit (NEFH; OMIM:162230); deletions in the gene encoding peripherin (PRPH; OMIM:170710); and mutations in the dynactin gene (DCTN1; OMIM:601143).\n\nSome forms of ALS show juvenile onset. See juvenile-onset ALS2 (OMIM:205100), caused by mutation in the alsin (OMIM:606352) gene on 2q33; ALS4 (OMIM:602433), caused by mutation in the senataxin gene (SETX; OMIM:608465) on 9q34; ALS5 (OMIM:602099), caused by mutation in the SPG11 gene (OMIM:610844) on 15q21; and ALS16 (OMIM:614373), caused by mutation in the SIGMAR1 gene (OMIM:601978) on 9p13.", "The most common type of familial ALS that has material basis in mutation in the SOD1 gene on chromosome 21."], "id_eng": "OMIM:105400", "definition_kw": ["Amyotrophic lateral sclerosis is a neurodegenerative disorder characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. ALS usually begins with asymmetric involvement of the muscles in middle adult life. Approximately 10% of ALS cases are familial ({103:Siddique and Deng, 1996}). ALS is sometimes referred to as 'Lou Gehrig disease' after the famous American baseball player who was diagnosed with the disorder.\n\n{97:Rowland and Shneider (2001)} and {60:Kunst (2004)} provided extensive reviews of ALS. Some forms of ALS occur with frontotemporal dementia (FTD).\n\nFamilial ALS is distinct from a form of ALS with dementia reported in cases on Guam (OMIM:105500) ({33:Espinosa et al., 1962}; {52:Husquinet and Franck, 1980}), in which the histology is different and dementia and parkinsonism complicate the clinical picture.\n\n<Subhead> Genetic Heterogeneity of Amyotrophic Lateral Sclerosis\n\nALS is a genetically heterogeneous disorder, with several causative genes and mapped loci.\n\nALS6 (OMIM:608030) is caused by mutation in the FUS gene (OMIM:137070) on chromosome 16p11.2; ALS8 (OMIM:608627) is caused by mutation in the VAPB gene (OMIM:605704) on chromosome 13; ALS9 (OMIM:611895) is caused by mutation in the ANG gene (OMIM:105850) on chromosome 14q11; ALS10 (OMIM:612069) is caused by mutation in the TARDBP gene (OMIM:605078) on 1p36.2; ALS11 (OMIM:612577) is caused by mutation in the FIG4 gene (OMIM:609390) on chromosome 6q21; ALS12 (OMIM:613435) is caused by mutation in the OPTN gene (OMIM:602432) on chromosome 10p; ALS14 (OMIM:613954) is caused by mutation in the VCP gene (OMIM:601023) gene on chromosome 9p13-p12; ALS15 (OMIM:300857) is caused by mutation in the UBQLN2 gene (OMIM:300264) on chromosome Xp11.23-p11.1; ALS17 (OMIM:614696) is caused by mutation in the CHMP2B gene (OMIM:609512) on chromosome 3p11; ALS18 (OMIM:614808) is caused by mutation in the PFN1 gene (OMIM:176610) on chromosome 17p13.3; ALS19 (OMIM:615515) is caused by mutation in the ERBB4 gene (OMIM:600543) on chromosome 2q34; ALS20 (OMIM:615426) is caused by mutation in the HNRNPA1 gene (OMIM:164017) on chromosome 12q13; ALS21 (OMIM:606070) is caused by mutation in the MATR3 gene (OMIM:164015) on chromosome 5q31; and ALS22 (OMIM:616208) is caused by mutation in the TUBA4A gene (OMIM:191110) on chromosome 2q35. See also FTDALS (OMIM:105550), caused by mutation in the C9ORF72 gene (OMIM:614260) on chromosome 9p21.\n\nLoci associated with the disorder are found on chromosomes 18q21 (ALS3; OMIM:606640) and 20p13 (ALS7; OMIM:608031).\n\nIntermediate-length polyglutamine repeat expansions in the ATXN2 gene (OMIM:601517) contribute to susceptibility to ALS (ALS13; OMIM:183090). Susceptibility to ALS has been associated with mutations in other genes, including deletions or insertions in the gene encoding the heavy neurofilament subunit (NEFH; OMIM:162230); deletions in the gene encoding peripherin (PRPH; OMIM:170710); and mutations in the dynactin gene (DCTN1; OMIM:601143).\n\nSome forms of ALS show juvenile onset. See juvenile-onset ALS2 (OMIM:205100), caused by mutation in the alsin (OMIM:606352) gene on 2q33; ALS4 (OMIM:602433), caused by mutation in the senataxin gene (SETX; OMIM:608465) on 9q34; ALS5 (OMIM:602099), caused by mutation in the SPG11 gene (OMIM:610844) on 15q21; and ALS16 (OMIM:614373), caused by mutation in the SIGMAR1 gene (OMIM:601978) on 9p13.", "The most common type of familial ALS that has material basis in mutation in the SOD1 gene on chromosome 21."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C1862939", "http://purl.obolibrary.org/obo/MESH_C531617", "http://purl.obolibrary.org/obo/DOID_0060193"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_105400", "label_std": ["Amyotrophic lateral sclerosis type 1", "amyotrophic lateral sclerosis type 1", "Amyotrophic Lateral Sclerosis 1"], "equivalent_curie": ["UMLS:C1862939", "MESH:C531617", "DOID:0060193"], "equivalent_curie_kw": ["UMLS:C1862939", "MESH:C531617", "DOID:0060193"], "synonym_eng": ["AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1", "Amyotrophic Lateral Sclerosis, Autosomal Dominant", "Amyotrophic lateral sclerosis type 1", "Amyotrophic Lateral Sclerosis 1, Autosomal Recessive", "Amyotrophic Lateral Sclerosis 1, Familial", "ALS1", "amyotrophic lateral sclerosis 1", "Amyotrophic Lateral Sclerosis, Sporadic", "Amyotrophic Lateral Sclerosis type 1", "Amyotrophic Lateral Sclerosis, Familial", "Amyotrophic Lateral Sclerosis 1, Autosomal Dominant"], "score": 5.2478466, "id_kw": "OMIM:105400", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C1862939", "http://purl.obolibrary.org/obo/MESH_C531617", "http://purl.obolibrary.org/obo/DOID_0060193"], "label_kw": ["Amyotrophic lateral sclerosis type 1", "amyotrophic lateral sclerosis type 1", "Amyotrophic Lateral Sclerosis 1"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_105400", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C1862939", "http://purl.obolibrary.org/obo/MESH_C531617", "http://purl.obolibrary.org/obo/DOID_0060193"], "_version_": 1580845511267581952, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_105400", "id": "OMIM:105400", "definition": ["Amyotrophic lateral sclerosis is a neurodegenerative disorder characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. ALS usually begins with asymmetric involvement of the muscles in middle adult life. Approximately 10% of ALS cases are familial ({103:Siddique and Deng, 1996}). ALS is sometimes referred to as 'Lou Gehrig disease' after the famous American baseball player who was diagnosed with the disorder.\n\n{97:Rowland and Shneider (2001)} and {60:Kunst (2004)} provided extensive reviews of ALS. Some forms of ALS occur with frontotemporal dementia (FTD).\n\nFamilial ALS is distinct from a form of ALS with dementia reported in cases on Guam (OMIM:105500) ({33:Espinosa et al., 1962}; {52:Husquinet and Franck, 1980}), in which the histology is different and dementia and parkinsonism complicate the clinical picture.\n\n<Subhead> Genetic Heterogeneity of Amyotrophic Lateral Sclerosis\n\nALS is a genetically heterogeneous disorder, with several causative genes and mapped loci.\n\nALS6 (OMIM:608030) is caused by mutation in the FUS gene (OMIM:137070) on chromosome 16p11.2; ALS8 (OMIM:608627) is caused by mutation in the VAPB gene (OMIM:605704) on chromosome 13; ALS9 (OMIM:611895) is caused by mutation in the ANG gene (OMIM:105850) on chromosome 14q11; ALS10 (OMIM:612069) is caused by mutation in the TARDBP gene (OMIM:605078) on 1p36.2; ALS11 (OMIM:612577) is caused by mutation in the FIG4 gene (OMIM:609390) on chromosome 6q21; ALS12 (OMIM:613435) is caused by mutation in the OPTN gene (OMIM:602432) on chromosome 10p; ALS14 (OMIM:613954) is caused by mutation in the VCP gene (OMIM:601023) gene on chromosome 9p13-p12; ALS15 (OMIM:300857) is caused by mutation in the UBQLN2 gene (OMIM:300264) on chromosome Xp11.23-p11.1; ALS17 (OMIM:614696) is caused by mutation in the CHMP2B gene (OMIM:609512) on chromosome 3p11; ALS18 (OMIM:614808) is caused by mutation in the PFN1 gene (OMIM:176610) on chromosome 17p13.3; ALS19 (OMIM:615515) is caused by mutation in the ERBB4 gene (OMIM:600543) on chromosome 2q34; ALS20 (OMIM:615426) is caused by mutation in the HNRNPA1 gene (OMIM:164017) on chromosome 12q13; ALS21 (OMIM:606070) is caused by mutation in the MATR3 gene (OMIM:164015) on chromosome 5q31; and ALS22 (OMIM:616208) is caused by mutation in the TUBA4A gene (OMIM:191110) on chromosome 2q35. See also FTDALS (OMIM:105550), caused by mutation in the C9ORF72 gene (OMIM:614260) on chromosome 9p21.\n\nLoci associated with the disorder are found on chromosomes 18q21 (ALS3; OMIM:606640) and 20p13 (ALS7; OMIM:608031).\n\nIntermediate-length polyglutamine repeat expansions in the ATXN2 gene (OMIM:601517) contribute to susceptibility to ALS (ALS13; OMIM:183090). Susceptibility to ALS has been associated with mutations in other genes, including deletions or insertions in the gene encoding the heavy neurofilament subunit (NEFH; OMIM:162230); deletions in the gene encoding peripherin (PRPH; OMIM:170710); and mutations in the dynactin gene (DCTN1; OMIM:601143).\n\nSome forms of ALS show juvenile onset. See juvenile-onset ALS2 (OMIM:205100), caused by mutation in the alsin (OMIM:606352) gene on 2q33; ALS4 (OMIM:602433), caused by mutation in the senataxin gene (SETX; OMIM:608465) on 9q34; ALS5 (OMIM:602099), caused by mutation in the SPG11 gene (OMIM:610844) on 15q21; and ALS16 (OMIM:614373), caused by mutation in the SIGMAR1 gene (OMIM:601978) on 9p13.", "The most common type of familial ALS that has material basis in mutation in the SOD1 gene on chromosome 21."], "synonym_kw": ["AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1", "Amyotrophic Lateral Sclerosis, Autosomal Dominant", "Amyotrophic lateral sclerosis type 1", "Amyotrophic Lateral Sclerosis 1, Autosomal Recessive", "Amyotrophic Lateral Sclerosis 1, Familial", "ALS1", "amyotrophic lateral sclerosis 1", "Amyotrophic Lateral Sclerosis, Sporadic", "Amyotrophic Lateral Sclerosis type 1", "Amyotrophic Lateral Sclerosis, Familial", "Amyotrophic Lateral Sclerosis 1, Autosomal Dominant"], "synonym_std": ["AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1", "Amyotrophic Lateral Sclerosis, Autosomal Dominant", "Amyotrophic lateral sclerosis type 1", "Amyotrophic Lateral Sclerosis 1, Autosomal Recessive", "Amyotrophic Lateral Sclerosis 1, Familial", "ALS1", "amyotrophic lateral sclerosis 1", "Amyotrophic Lateral Sclerosis, Sporadic", "Amyotrophic Lateral Sclerosis type 1", "Amyotrophic Lateral Sclerosis, Familial", "Amyotrophic Lateral Sclerosis 1, Autosomal Dominant"], "label": ["Amyotrophic lateral sclerosis type 1", "amyotrophic lateral sclerosis type 1", "Amyotrophic Lateral Sclerosis 1"], "definition_eng": ["Amyotrophic lateral sclerosis is a neurodegenerative disorder characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. ALS usually begins with asymmetric involvement of the muscles in middle adult life. Approximately 10% of ALS cases are familial ({103:Siddique and Deng, 1996}). ALS is sometimes referred to as 'Lou Gehrig disease' after the famous American baseball player who was diagnosed with the disorder.\n\n{97:Rowland and Shneider (2001)} and {60:Kunst (2004)} provided extensive reviews of ALS. Some forms of ALS occur with frontotemporal dementia (FTD).\n\nFamilial ALS is distinct from a form of ALS with dementia reported in cases on Guam (OMIM:105500) ({33:Espinosa et al., 1962}; {52:Husquinet and Franck, 1980}), in which the histology is different and dementia and parkinsonism complicate the clinical picture.\n\n<Subhead> Genetic Heterogeneity of Amyotrophic Lateral Sclerosis\n\nALS is a genetically heterogeneous disorder, with several causative genes and mapped loci.\n\nALS6 (OMIM:608030) is caused by mutation in the FUS gene (OMIM:137070) on chromosome 16p11.2; ALS8 (OMIM:608627) is caused by mutation in the VAPB gene (OMIM:605704) on chromosome 13; ALS9 (OMIM:611895) is caused by mutation in the ANG gene (OMIM:105850) on chromosome 14q11; ALS10 (OMIM:612069) is caused by mutation in the TARDBP gene (OMIM:605078) on 1p36.2; ALS11 (OMIM:612577) is caused by mutation in the FIG4 gene (OMIM:609390) on chromosome 6q21; ALS12 (OMIM:613435) is caused by mutation in the OPTN gene (OMIM:602432) on chromosome 10p; ALS14 (OMIM:613954) is caused by mutation in the VCP gene (OMIM:601023) gene on chromosome 9p13-p12; ALS15 (OMIM:300857) is caused by mutation in the UBQLN2 gene (OMIM:300264) on chromosome Xp11.23-p11.1; ALS17 (OMIM:614696) is caused by mutation in the CHMP2B gene (OMIM:609512) on chromosome 3p11; ALS18 (OMIM:614808) is caused by mutation in the PFN1 gene (OMIM:176610) on chromosome 17p13.3; ALS19 (OMIM:615515) is caused by mutation in the ERBB4 gene (OMIM:600543) on chromosome 2q34; ALS20 (OMIM:615426) is caused by mutation in the HNRNPA1 gene (OMIM:164017) on chromosome 12q13; ALS21 (OMIM:606070) is caused by mutation in the MATR3 gene (OMIM:164015) on chromosome 5q31; and ALS22 (OMIM:616208) is caused by mutation in the TUBA4A gene (OMIM:191110) on chromosome 2q35. See also FTDALS (OMIM:105550), caused by mutation in the C9ORF72 gene (OMIM:614260) on chromosome 9p21.\n\nLoci associated with the disorder are found on chromosomes 18q21 (ALS3; OMIM:606640) and 20p13 (ALS7; OMIM:608031).\n\nIntermediate-length polyglutamine repeat expansions in the ATXN2 gene (OMIM:601517) contribute to susceptibility to ALS (ALS13; OMIM:183090). Susceptibility to ALS has been associated with mutations in other genes, including deletions or insertions in the gene encoding the heavy neurofilament subunit (NEFH; OMIM:162230); deletions in the gene encoding peripherin (PRPH; OMIM:170710); and mutations in the dynactin gene (DCTN1; OMIM:601143).\n\nSome forms of ALS show juvenile onset. See juvenile-onset ALS2 (OMIM:205100), caused by mutation in the alsin (OMIM:606352) gene on 2q33; ALS4 (OMIM:602433), caused by mutation in the senataxin gene (SETX; OMIM:608465) on 9q34; ALS5 (OMIM:602099), caused by mutation in the SPG11 gene (OMIM:610844) on 15q21; and ALS16 (OMIM:614373), caused by mutation in the SIGMAR1 gene (OMIM:601978) on 9p13.", "The most common type of familial ALS that has material basis in mutation in the SOD1 gene on chromosome 21."], "equivalent_curie_std": ["UMLS:C1862939", "MESH:C531617", "DOID:0060193"], "category": ["disease"]}, {"synonym": ["MITOCHONDRIAL COMPLEX I DEFICIENCY", "Nadh-Coenzyme Q Reductase Deficiency", "isolated NADH-ubiquinone reductase deficiency", "Isolated mitochondrial respiratory chain complex I deficiency", "Isolated NADH-coenzyme Q reductase deficiency", "Isolated NADH-CoQ reductase deficiency", "isolated NADH-coenzyme Q reductase deficiency", "Nadh:Q(1) Oxidoreductase Deficiency", "isolated NADH-CoQ reductase deficiency", "isolated mitochondrial respiratory chain complex I deficiency", "Mitochondrial Nadh Dehydrogenase Component of Complex I, Deficiency of", "Mitochondrial NADH dehydrogenase component of complex I, deficiency of", "NADH coenzyme q reductase deficiency", "NADH:Q(1) Oxidoreductase deficiency", "Isolated NADH-ubiquinone reductase deficiency"], "equivalent_curie_eng": ["Orphanet:2609", "UMLS:C1838979", "DOID:0060536", "MESH:C537475"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:252010", "iri": "http://purl.obolibrary.org/obo/OMIM_252010", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_2609", "http://purl.obolibrary.org/obo/UMLS_C1838979", "http://purl.obolibrary.org/obo/DOID_0060536", "http://purl.obolibrary.org/obo/MESH_C537475"], "label_eng": ["Mitochondrial Complex 1 Deficiency", "mitochondrial complex I deficiency", "Mitochondrial complex I deficiency"], "definition_std": ["Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).", "Isolated complex I deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders ({37:McFarland et al., 2004}; {30:Kirby et al., 2004}). It causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome (OMIM:256000), Leber hereditary optic neuropathy (OMIM:535000), and some forms of Parkinson disease (see OMIM:556500) ({35:Loeffen et al., 2000}; {44:Pitkanen et al., 1996}; {47:Robinson, 1998}).\n\n<Subhead> Genetic Heterogeneity of Complex I Deficiency\n\nMitochondrial complex I deficiency shows extreme genetic heterogeneity and can be caused by mutation in nuclear-encoded genes or in mitochondrial-encoded genes. There are no obvious genotype-phenotype correlations, and inference of the underlying basis from the clinical or biochemical presentation is difficult, if not impossible (summary by {24:Haack et al., 2012}). However, the majority of cases are caused by mutations in nuclear-encoded genes ({35:Loeffen et al., 2000}; {58:Triepels et al., 2001}).\n\nComplex I deficiency with autosomal recessive inheritance results from mutation in nuclear-encoded subunit genes, including NDUFV1 (OMIM:161015), NDUFV2 (OMIM:600532), NDUFS1 (OMIM:157655), NDUFS2 (OMIM:602985), NDUFS3 (OMIM:603846), NDUFS4 (OMIM:602694), NDUFS6 (OMIM:603848), NDUFS7 (OMIM:601825), NDUFS8 (OMIM:602141), NDUFA2 (OMIM:602137), NDUFA11 (OMIM:612638), NDUFAF3 (OMIM:612911), NDUFA10 (OMIM:603835), NDUFB3 (OMIM:603839), NDUFB9 (OMIM:601445), and the complex I assembly genes B17.2L (OMIM:609653), HRPAP20 (OMIM:611776), C20ORF7 (OMIM:612360), NUBPL (OMIM:613621), NDUFAF1 (OMIM:606934), and TMEM126B (OMIM:615533). The disorder can also be caused by mutation in other nuclear-encoded genes, including FOXRED1 (OMIM:613622), ACAD9 (OMIM:611103; see OMIM:611126), and MTFMT (OMIM:611766; see OMIM:256000).\n\nX-linked inheritance is observed with mutations in the NDUFA1 (OMIM:300078) and NDUFB11 (OMIM:300403) genes.\n\nComplex I deficiency with mitochondrial inheritance has been associated with mutation in 6 mitochondrial-encoded components of complex I: MTND1 (OMIM:516000), MTND2 (OMIM:516001), MTND3 (OMIM:516002), MTND4 (OMIM:516003), MTND5 (OMIM:516005), MTND6 (OMIM:516006). Most of these patients have a phenotype of Leber hereditary optic neuropathy (LHON; OMIM:535000) or Leigh syndrome (OMIM:256000). Features of complex I deficiency may also be caused by mutation in other mitochondrial genes, including MTTS2 (OMIM:590085)."], "id_eng": "OMIM:252010", "definition_kw": ["Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).", "Isolated complex I deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders ({37:McFarland et al., 2004}; {30:Kirby et al., 2004}). It causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome (OMIM:256000), Leber hereditary optic neuropathy (OMIM:535000), and some forms of Parkinson disease (see OMIM:556500) ({35:Loeffen et al., 2000}; {44:Pitkanen et al., 1996}; {47:Robinson, 1998}).\n\n<Subhead> Genetic Heterogeneity of Complex I Deficiency\n\nMitochondrial complex I deficiency shows extreme genetic heterogeneity and can be caused by mutation in nuclear-encoded genes or in mitochondrial-encoded genes. There are no obvious genotype-phenotype correlations, and inference of the underlying basis from the clinical or biochemical presentation is difficult, if not impossible (summary by {24:Haack et al., 2012}). However, the majority of cases are caused by mutations in nuclear-encoded genes ({35:Loeffen et al., 2000}; {58:Triepels et al., 2001}).\n\nComplex I deficiency with autosomal recessive inheritance results from mutation in nuclear-encoded subunit genes, including NDUFV1 (OMIM:161015), NDUFV2 (OMIM:600532), NDUFS1 (OMIM:157655), NDUFS2 (OMIM:602985), NDUFS3 (OMIM:603846), NDUFS4 (OMIM:602694), NDUFS6 (OMIM:603848), NDUFS7 (OMIM:601825), NDUFS8 (OMIM:602141), NDUFA2 (OMIM:602137), NDUFA11 (OMIM:612638), NDUFAF3 (OMIM:612911), NDUFA10 (OMIM:603835), NDUFB3 (OMIM:603839), NDUFB9 (OMIM:601445), and the complex I assembly genes B17.2L (OMIM:609653), HRPAP20 (OMIM:611776), C20ORF7 (OMIM:612360), NUBPL (OMIM:613621), NDUFAF1 (OMIM:606934), and TMEM126B (OMIM:615533). The disorder can also be caused by mutation in other nuclear-encoded genes, including FOXRED1 (OMIM:613622), ACAD9 (OMIM:611103; see OMIM:611126), and MTFMT (OMIM:611766; see OMIM:256000).\n\nX-linked inheritance is observed with mutations in the NDUFA1 (OMIM:300078) and NDUFB11 (OMIM:300403) genes.\n\nComplex I deficiency with mitochondrial inheritance has been associated with mutation in 6 mitochondrial-encoded components of complex I: MTND1 (OMIM:516000), MTND2 (OMIM:516001), MTND3 (OMIM:516002), MTND4 (OMIM:516003), MTND5 (OMIM:516005), MTND6 (OMIM:516006). Most of these patients have a phenotype of Leber hereditary optic neuropathy (LHON; OMIM:535000) or Leigh syndrome (OMIM:256000). Features of complex I deficiency may also be caused by mutation in other mitochondrial genes, including MTTS2 (OMIM:590085)."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_2609", "http://purl.obolibrary.org/obo/UMLS_C1838979", "http://purl.obolibrary.org/obo/DOID_0060536", "http://purl.obolibrary.org/obo/MESH_C537475"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_252010", "label_std": ["Mitochondrial Complex 1 Deficiency", "mitochondrial complex I deficiency", "Mitochondrial complex I deficiency"], "equivalent_curie": ["Orphanet:2609", "UMLS:C1838979", "DOID:0060536", "MESH:C537475"], "equivalent_curie_kw": ["Orphanet:2609", "UMLS:C1838979", "DOID:0060536", "MESH:C537475"], "synonym_eng": ["MITOCHONDRIAL COMPLEX I DEFICIENCY", "Nadh-Coenzyme Q Reductase Deficiency", "isolated NADH-ubiquinone reductase deficiency", "Isolated mitochondrial respiratory chain complex I deficiency", "Isolated NADH-coenzyme Q reductase deficiency", "Isolated NADH-CoQ reductase deficiency", "isolated NADH-coenzyme Q reductase deficiency", "Nadh:Q(1) Oxidoreductase Deficiency", "isolated NADH-CoQ reductase deficiency", "isolated mitochondrial respiratory chain complex I deficiency", "Mitochondrial Nadh Dehydrogenase Component of Complex I, Deficiency of", "Mitochondrial NADH dehydrogenase component of complex I, deficiency of", "NADH coenzyme q reductase deficiency", "NADH:Q(1) Oxidoreductase deficiency", "Isolated NADH-ubiquinone reductase deficiency"], "score": 5.2478466, "id_kw": "OMIM:252010", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_2609", "http://purl.obolibrary.org/obo/UMLS_C1838979", "http://purl.obolibrary.org/obo/DOID_0060536", "http://purl.obolibrary.org/obo/MESH_C537475"], "label_kw": ["Mitochondrial Complex 1 Deficiency", "mitochondrial complex I deficiency", "Mitochondrial complex I deficiency"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_252010", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_2609", "http://purl.obolibrary.org/obo/UMLS_C1838979", "http://purl.obolibrary.org/obo/DOID_0060536", "http://purl.obolibrary.org/obo/MESH_C537475"], "_version_": 1580845512866660352, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_252010", "id": "OMIM:252010", "definition": ["Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).", "Isolated complex I deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders ({37:McFarland et al., 2004}; {30:Kirby et al., 2004}). It causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome (OMIM:256000), Leber hereditary optic neuropathy (OMIM:535000), and some forms of Parkinson disease (see OMIM:556500) ({35:Loeffen et al., 2000}; {44:Pitkanen et al., 1996}; {47:Robinson, 1998}).\n\n<Subhead> Genetic Heterogeneity of Complex I Deficiency\n\nMitochondrial complex I deficiency shows extreme genetic heterogeneity and can be caused by mutation in nuclear-encoded genes or in mitochondrial-encoded genes. There are no obvious genotype-phenotype correlations, and inference of the underlying basis from the clinical or biochemical presentation is difficult, if not impossible (summary by {24:Haack et al., 2012}). However, the majority of cases are caused by mutations in nuclear-encoded genes ({35:Loeffen et al., 2000}; {58:Triepels et al., 2001}).\n\nComplex I deficiency with autosomal recessive inheritance results from mutation in nuclear-encoded subunit genes, including NDUFV1 (OMIM:161015), NDUFV2 (OMIM:600532), NDUFS1 (OMIM:157655), NDUFS2 (OMIM:602985), NDUFS3 (OMIM:603846), NDUFS4 (OMIM:602694), NDUFS6 (OMIM:603848), NDUFS7 (OMIM:601825), NDUFS8 (OMIM:602141), NDUFA2 (OMIM:602137), NDUFA11 (OMIM:612638), NDUFAF3 (OMIM:612911), NDUFA10 (OMIM:603835), NDUFB3 (OMIM:603839), NDUFB9 (OMIM:601445), and the complex I assembly genes B17.2L (OMIM:609653), HRPAP20 (OMIM:611776), C20ORF7 (OMIM:612360), NUBPL (OMIM:613621), NDUFAF1 (OMIM:606934), and TMEM126B (OMIM:615533). The disorder can also be caused by mutation in other nuclear-encoded genes, including FOXRED1 (OMIM:613622), ACAD9 (OMIM:611103; see OMIM:611126), and MTFMT (OMIM:611766; see OMIM:256000).\n\nX-linked inheritance is observed with mutations in the NDUFA1 (OMIM:300078) and NDUFB11 (OMIM:300403) genes.\n\nComplex I deficiency with mitochondrial inheritance has been associated with mutation in 6 mitochondrial-encoded components of complex I: MTND1 (OMIM:516000), MTND2 (OMIM:516001), MTND3 (OMIM:516002), MTND4 (OMIM:516003), MTND5 (OMIM:516005), MTND6 (OMIM:516006). Most of these patients have a phenotype of Leber hereditary optic neuropathy (LHON; OMIM:535000) or Leigh syndrome (OMIM:256000). Features of complex I deficiency may also be caused by mutation in other mitochondrial genes, including MTTS2 (OMIM:590085)."], "synonym_kw": ["MITOCHONDRIAL COMPLEX I DEFICIENCY", "Nadh-Coenzyme Q Reductase Deficiency", "isolated NADH-ubiquinone reductase deficiency", "Isolated mitochondrial respiratory chain complex I deficiency", "Isolated NADH-coenzyme Q reductase deficiency", "Isolated NADH-CoQ reductase deficiency", "isolated NADH-coenzyme Q reductase deficiency", "Nadh:Q(1) Oxidoreductase Deficiency", "isolated NADH-CoQ reductase deficiency", "isolated mitochondrial respiratory chain complex I deficiency", "Mitochondrial Nadh Dehydrogenase Component of Complex I, Deficiency of", "Mitochondrial NADH dehydrogenase component of complex I, deficiency of", "NADH coenzyme q reductase deficiency", "NADH:Q(1) Oxidoreductase deficiency", "Isolated NADH-ubiquinone reductase deficiency"], "synonym_std": ["MITOCHONDRIAL COMPLEX I DEFICIENCY", "Nadh-Coenzyme Q Reductase Deficiency", "isolated NADH-ubiquinone reductase deficiency", "Isolated mitochondrial respiratory chain complex I deficiency", "Isolated NADH-coenzyme Q reductase deficiency", "Isolated NADH-CoQ reductase deficiency", "isolated NADH-coenzyme Q reductase deficiency", "Nadh:Q(1) Oxidoreductase Deficiency", "isolated NADH-CoQ reductase deficiency", "isolated mitochondrial respiratory chain complex I deficiency", "Mitochondrial Nadh Dehydrogenase Component of Complex I, Deficiency of", "Mitochondrial NADH dehydrogenase component of complex I, deficiency of", "NADH coenzyme q reductase deficiency", "NADH:Q(1) Oxidoreductase deficiency", "Isolated NADH-ubiquinone reductase deficiency"], "label": ["Mitochondrial Complex 1 Deficiency", "mitochondrial complex I deficiency", "Mitochondrial complex I deficiency"], "definition_eng": ["Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).", "Isolated complex I deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders ({37:McFarland et al., 2004}; {30:Kirby et al., 2004}). It causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome (OMIM:256000), Leber hereditary optic neuropathy (OMIM:535000), and some forms of Parkinson disease (see OMIM:556500) ({35:Loeffen et al., 2000}; {44:Pitkanen et al., 1996}; {47:Robinson, 1998}).\n\n<Subhead> Genetic Heterogeneity of Complex I Deficiency\n\nMitochondrial complex I deficiency shows extreme genetic heterogeneity and can be caused by mutation in nuclear-encoded genes or in mitochondrial-encoded genes. There are no obvious genotype-phenotype correlations, and inference of the underlying basis from the clinical or biochemical presentation is difficult, if not impossible (summary by {24:Haack et al., 2012}). However, the majority of cases are caused by mutations in nuclear-encoded genes ({35:Loeffen et al., 2000}; {58:Triepels et al., 2001}).\n\nComplex I deficiency with autosomal recessive inheritance results from mutation in nuclear-encoded subunit genes, including NDUFV1 (OMIM:161015), NDUFV2 (OMIM:600532), NDUFS1 (OMIM:157655), NDUFS2 (OMIM:602985), NDUFS3 (OMIM:603846), NDUFS4 (OMIM:602694), NDUFS6 (OMIM:603848), NDUFS7 (OMIM:601825), NDUFS8 (OMIM:602141), NDUFA2 (OMIM:602137), NDUFA11 (OMIM:612638), NDUFAF3 (OMIM:612911), NDUFA10 (OMIM:603835), NDUFB3 (OMIM:603839), NDUFB9 (OMIM:601445), and the complex I assembly genes B17.2L (OMIM:609653), HRPAP20 (OMIM:611776), C20ORF7 (OMIM:612360), NUBPL (OMIM:613621), NDUFAF1 (OMIM:606934), and TMEM126B (OMIM:615533). The disorder can also be caused by mutation in other nuclear-encoded genes, including FOXRED1 (OMIM:613622), ACAD9 (OMIM:611103; see OMIM:611126), and MTFMT (OMIM:611766; see OMIM:256000).\n\nX-linked inheritance is observed with mutations in the NDUFA1 (OMIM:300078) and NDUFB11 (OMIM:300403) genes.\n\nComplex I deficiency with mitochondrial inheritance has been associated with mutation in 6 mitochondrial-encoded components of complex I: MTND1 (OMIM:516000), MTND2 (OMIM:516001), MTND3 (OMIM:516002), MTND4 (OMIM:516003), MTND5 (OMIM:516005), MTND6 (OMIM:516006). Most of these patients have a phenotype of Leber hereditary optic neuropathy (LHON; OMIM:535000) or Leigh syndrome (OMIM:256000). Features of complex I deficiency may also be caused by mutation in other mitochondrial genes, including MTTS2 (OMIM:590085)."], "equivalent_curie_std": ["Orphanet:2609", "UMLS:C1838979", "DOID:0060536", "MESH:C537475"], "category": ["disease"]}], "facet_counts": {"category": {"gene": 36, "Phenotype": 7, "disease": 143}, "taxon_label": {"Mus musculus": 2, "Takifugu rubripes": 1, "Equus caballus": 3, "Bos taurus": 3, "Canis lupus familiaris": 3, "Pan troglodytes": 3, "Felis catus": 2, "Anolis carolinensis": 3, "Ornithorhynchus anatinus": 2, "Homo sapiens": 4, "Macaca mulatta": 1, "Sus scrofa": 3, "Monodelphis domestica": 3, "Gallus gallus": 3}}, "pagination": {}}