Mercurial > repos > nathandunn > monarchinitiative
comparison test-data/phenotypes-for-diseases-union.tsv @ 7:61d8060bf2ed draft
planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
author | nathandunn |
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date | Mon, 22 Aug 2016 12:41:24 -0400 |
parents | 850bb90bd667 |
children | 5fa1f0ca69cc |
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1 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002019 Constipation ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12814332|PMID:21560061|PMID:23408927|PMID:22021174|PMID:19717168 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 1 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0000726 Dementia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
2 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 2 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3747258|PMID:20055267|PMID:17048150|PMID:22130147|PMID:12948464 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
3 OMIM:614251 Parkinson Disease 18, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 3 OMIM:612953 Parkinson disease 14 RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
4 OMIM:614203 Parkinson Disease 17 RO:0002200 has phenotype HP:0100660 Dyskinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 4 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0002071 Abnormality of extrapyramidal motor function ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
5 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0002015 Dysphagia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 5 OMIM:615530 Parkinson disease 20, early-onset RO:0002200 has phenotype HP:0000605 Supranuclear gaze palsy ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
6 OMIM:614251 Parkinson Disease 18, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0002322 Resting tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 6 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000012 Urinary urgency ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18327532|PMID:14521485|PMID:19908315|PMID:11570707|PMID:3942028 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
7 OMIM:605543 Parkinson Disease 4, Autosomal Dominant RO:0002200 has phenotype HP:0001824 Weight loss ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 7 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0002529 Neuronal loss in central nervous system ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
8 OMIM:606324 Parkinson Disease 7, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 8 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
9 OMIM:168100 Paralysis Agitans, Juvenile, of Hunt RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 9 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0100543 Cognitive impairment ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17516457|PMID:18178571|PMID:20832408|PMID:18682443|PMID:9387801 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
10 OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile RO:0002200 has phenotype HP:0001332 Dystonia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 10 OMIM:606693 Parkinson disease 9 RO:0002200 has phenotype HP:0000458 Anosmia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
11 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0002020 Gastroesophageal reflux ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 11 OMIM:612953 Parkinson disease 14 RO:0002200 has phenotype HP:0002312 Clumsiness ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
12 OMIM:614251 Parkinson Disease 18, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0100315 Lewy bodies ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 12 OMIM:606693 Parkinson disease 9 RO:0002200 has phenotype HP:0004409 Hyposmia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
13 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000011 Neurogenic bladder ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:22331071|PMID:12922929|PMID:12756142|PMID:1965204|PMID:16855424 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 13 OMIM:606693 Parkinson disease 9 RO:0002200 has phenotype HP:0000473 Torticollis ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
14 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001824 Weight loss ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20028343|PMID:16773618|PMID:15595933|PMID:11241387|PMID:21192784 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 14 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
15 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0000605 Supranuclear gaze palsy ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 15 OMIM:614203 Parkinson Disease 17 RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
16 OMIM:168601 autosomal dominant Parkinson disease 1 RO:0002200 has phenotype HP:0000012 Urinary urgency ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 16 OMIM:616361 Parkinson disease 21 RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
17 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0001621 Weak voice ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 17 OMIM:614203 Parkinson Disease 17 RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
18 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0100315 Lewy bodies ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 18 OMIM:168100 Paralysis Agitans, Juvenile, of Hunt RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
19 OMIM:605543 Parkinson Disease 4, Autosomal Dominant RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 19 OMIM:606324 Parkinson disease 7 RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
20 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:22204976|PMID:23803637|PMID:16093408|PMID:23803638|PMID:16720791 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 20 OMIM:612953 Parkinson disease 14 RO:0002200 has phenotype HP:0006892 Frontotemporal cerebral atrophy ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
21 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001266 Choreoathetosis ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2330103|PMID:1052297|PMID:6457534|PMID:16364674|PMID:9686783 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 21 OMIM:606693 Parkinson disease 9 RO:0002200 has phenotype HP:0002936 Distal sensory impairment ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
22 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000711 Restlessness ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20683503|PMID:21560064|PMID:2350935|PMID:12390050|PMID:23047004 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 22 OMIM:614203 Parkinson Disease 17 RO:0002200 has phenotype HP:0002304 Akinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
23 OMIM:615530 Parkinson Disease 20, Early-Onset RO:0002200 has phenotype HP:0001268 Mental deterioration ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 23 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0001257 Spasticity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
24 OMIM:168601 autosomal dominant Parkinson disease 1 RO:0002200 has phenotype HP:0001260 Dysarthria ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 24 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0001762 Talipes equinovarus ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
25 OMIM:607060 autosomal dominant Parkinson disease 8 RO:0002200 has phenotype HP:0002322 Resting tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 25 OMIM:606693 Parkinson disease 9 RO:0002200 has phenotype HP:0002425 Anarthria ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
26 OMIM:615530 Parkinson Disease 20, Early-Onset RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 26 OMIM:168601 Parkinson disease 1 RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
27 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000738 Hallucinations ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17548778|PMID:19507125|PMID:12814332|PMID:19680598|PMID:22043626 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
28 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0001260 Dysarthria ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
29 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
30 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002321 Vertigo ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19479494|PMID:19768728|PMID:21843110|PMID:2515717|PMID:12814332 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
31 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0002451 Limb dystonia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
32 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000709 Psychosis ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17013906|PMID:12814332|PMID:22245219|PMID:21630354|PMID:10727476 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
33 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0003487 Babinski sign ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
34 OMIM:607060 autosomal dominant Parkinson disease 8 RO:0002200 has phenotype HP:0004409 Hyposmia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
35 OMIM:606693 Parkinson disease 9 RO:0002200 has phenotype HP:0000514 Slow saccadic eye movements ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
36 OMIM:614251 Parkinson disease 18 RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
37 OMIM:168100 Paralysis Agitans, Juvenile, of Hunt RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
38 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001332 Dystonia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2515718|PMID:7715793|PMID:6231489|PMID:22976499|PMID:2579626 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
39 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0010524 Agnosia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12796834|PMID:9686278|PMID:2932922|PMID:15782604|PMID:3263977 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
40 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:11949716|PMID:17048150|PMID:9513304|PMID:20055267|PMID:22402215 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
41 OMIM:105500 Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 RO:0002200 has phenotype HP:0001283 Bulbar palsy ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
42 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000017 Nocturia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8369103|PMID:11741097|PMID:20205139|PMID:21264941|PMID:19404716 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
43 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000751 Personality changes ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21845593|PMID:9426865|PMID:16908734|PMID:21560061|PMID:18346925 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
44 OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile RO:0002200 has phenotype HP:0001288 Gait disturbance ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
45 OMIM:607688 Parkinson disease 11 RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000269 experimental evidence used in manual assertion PMID:18358451 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
46 OMIM:606693 Parkinson disease 9 RO:0002200 has phenotype HP:0002385 Paraparesis ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
47 OMIM:615530 Parkinson disease 20, early-onset RO:0002200 has phenotype HP:0001337 Tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
48 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0012407 Scissor gait ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
49 OMIM:105500 Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 RO:0002200 has phenotype HP:0007354 Amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
50 OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile RO:0002200 has phenotype HP:0011960 Substantia nigra gliosis ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
51 OMIM:606693 Parkinson disease 9 RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
52 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002072 Chorea ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21729402|PMID:1656540|PMID:9387799|PMID:39737|PMID:1557069 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
53 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001324 Muscle weakness ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17931671|PMID:15372591|PMID:7659761|PMID:8682529|PMID:18313370 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
54 OMIM:168100 Paralysis Agitans, Juvenile, of Hunt RO:0002200 has phenotype HP:0001337 Tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
55 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0002493 Upper motor neuron dysfunction ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
56 OMIM:260540 Parkinson-Dementia Syndrome RO:0002200 has phenotype HP:0000597 Ophthalmoparesis ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
57 OMIM:612953 Parkinson disease 14 RO:0002200 has phenotype HP:0001337 Tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
58 OMIM:606324 Parkinson disease 7 RO:0002200 has phenotype HP:0002174 Postural tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
59 OMIM:612953 Parkinson disease 14 RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
60 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0001332 Dystonia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
61 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002017 Nausea and vomiting ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15495119|PMID:7195483|PMID:9756144|PMID:10091630|PMID:6481422 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
62 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000722 Obsessive-compulsive behavior ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21764406|PMID:23318227|PMID:15639176|PMID:20205149|PMID:22604202 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
63 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
64 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0001250 Seizures ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
65 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002322 Resting tremor ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19858460|PMID:19176228|PMID:20055267|PMID:9426865|PMID:17048150 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
66 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001278 Orthostatic hypotension ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12814332|PMID:12654979|PMID:16906622|PMID:5386267|PMID:21560061 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
67 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0001260 Dysarthria ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
68 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0000012 Urinary urgency ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
69 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0100595 Camptocormia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12671947|PMID:17027115|PMID:21389682|PMID:19864661|PMID:23994926 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
70 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0000514 Slow saccadic eye movements ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
71 OMIM:168601 Parkinson disease 1 RO:0002200 has phenotype HP:0001332 Dystonia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
72 OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
73 OMIM:606693 Parkinson disease 9 RO:0002200 has phenotype HP:0000725 Psychotic episodes ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
74 OMIM:612953 Parkinson disease 14 RO:0002200 has phenotype HP:0001257 Spasticity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
75 OMIM:606693 Parkinson disease 9 RO:0002200 has phenotype HP:0000738 Hallucinations ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
76 OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile RO:0002200 has phenotype HP:0001347 Hyperreflexia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
77 OMIM:260540 Parkinson-Dementia Syndrome RO:0002200 has phenotype HP:0001337 Tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
78 OMIM:168100 Paralysis Agitans, Juvenile, of Hunt RO:0002200 has phenotype HP:0001260 Dysarthria ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
79 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002529 Neuronal loss in central nervous system ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17931705|PMID:18715146|PMID:23380027|PMID:22899187|PMID:17516497 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
80 OMIM:168601 Parkinson disease 1 RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
81 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001000 Abnormality of skin pigmentation ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10737635|PMID:7771778|PMID:7715783|PMID:6499297|PMID:8731382 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
82 OMIM:606693 Parkinson disease 9 RO:0002200 has phenotype HP:0003487 Babinski sign ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
83 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0002061 Lower limb spasticity ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
84 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0001263 Global developmental delay ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
85 OMIM:607060 autosomal dominant Parkinson disease 8 RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
86 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0001337 Tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
87 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001249 Intellectual disability ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12836419|PMID:1618013|PMID:8665730|PMID:21257332|PMID:17548778 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
88 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002018 Nausea ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19768728|PMID:17516484|PMID:6180142|PMID:2515717|PMID:21843110 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
89 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0100315 Lewy bodies ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20055267|PMID:16093408|PMID:17516497|PMID:22043625|PMID:22245218 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
90 OMIM:105500 Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 RO:0002200 has phenotype HP:0000726 Dementia ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
91 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0001347 Hyperreflexia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
92 OMIM:606693 Parkinson disease 9 RO:0002200 has phenotype HP:0000298 Mask-like facies ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
93 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0003006 Neuroblastoma ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20026175|PMID:8341291|PMID:18411255|PMID:10737593|PMID:12787066 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
94 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002356 Writer's cramp ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3504239|PMID:19232169|PMID:17131231|PMID:9074398|PMID:2296384 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
95 OMIM:606324 Parkinson disease 7 RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
96 OMIM:612953 Parkinson disease 14 RO:0002200 has phenotype HP:0000718 Aggressive behavior ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
97 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0000738 Hallucinations ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
98 OMIM:607688 Parkinson disease 11 RO:0002200 has phenotype HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000269 experimental evidence used in manual assertion PMID:18358451 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
99 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002615 Hypotension ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:6180142|PMID:1300256|PMID:1300258|PMID:7296422|PMID:6441537 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
100 OMIM:168601 Parkinson disease 1 RO:0002200 has phenotype HP:0002360 Sleep disturbance ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
101 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0011951 Aspiration pneumonia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21098406|PMID:20518603|PMID:12970031|PMID:20869620|PMID:12404752 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
102 OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
103 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0100660 Dyskinesia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17516484|PMID:17013916|PMID:7146724|PMID:21729402|PMID:22043624 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
104 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0004409 Hyposmia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21560061|PMID:17508142|PMID:18322371|PMID:22035024|PMID:21387694 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
105 OMIM:606693 Parkinson disease 9 RO:0002200 has phenotype HP:0000718 Aggressive behavior ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
106 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
107 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0001347 Hyperreflexia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
108 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0002072 Chorea ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
109 OMIM:168100 Paralysis Agitans, Juvenile, of Hunt RO:0002200 has phenotype HP:0000298 Mask-like facies ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
110 OMIM:615530 Parkinson disease 20, early-onset RO:0002200 has phenotype HP:0001260 Dysarthria ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
111 OMIM:606693 Parkinson disease 9 RO:0002200 has phenotype HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
112 OMIM:606693 Parkinson disease 9 RO:0002200 has phenotype HP:0000726 Dementia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
113 OMIM:615530 Parkinson disease 20, early-onset RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
114 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002167 Neurological speech impairment ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:22706836|PMID:8162135|PMID:15767513|PMID:22772465|PMID:19864662 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
115 OMIM:612953 Parkinson disease 14 RO:0002200 has phenotype HP:0002283 Global brain atrophy ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
116 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0001332 Dystonia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
117 OMIM:260540 Parkinson-Dementia Syndrome RO:0002200 has phenotype HP:0002751 Kyphoscoliosis ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
118 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000020 Urinary incontinence ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12814332|PMID:22331072|PMID:15895303|PMID:19135266|PMID:20429324 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
119 OMIM:607688 Parkinson disease 11 RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000269 experimental evidence used in manual assertion PMID:18358451 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
27 OMIM:605543 Parkinson Disease 4, Autosomal Dominant RO:0002200 has phenotype HP:0000726 Dementia ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 120 OMIM:605543 Parkinson Disease 4, Autosomal Dominant RO:0002200 has phenotype HP:0000726 Dementia ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
28 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0002322 Resting tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 121 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0002322 Resting tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
29 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0003881 Humeral sclerosis ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21309754|PMID:10675426|PMID:9113500|PMID:22023479|PMID:19479510 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 122 OMIM:615530 Parkinson disease 20, early-onset RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
30 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002076 Migraine ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:22037955|PMID:16870487|PMID:3431838|PMID:15090934|PMID:16341290 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 123 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000733 Stereotypic behavior ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:563012|PMID:3670611|PMID:16934409|PMID:6138131|PMID:21072531 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
31 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 124 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
32 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0001337 Tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 125 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002353 EEG abnormality ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:16483454|PMID:2605826|PMID:1714807|PMID:1753458|PMID:7489659 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
33 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0100022 Abnormality of movement ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21696993|PMID:22245219|PMID:17516489|PMID:17013911|PMID:17013922 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 126 OMIM:610297 Parkinson Disease 13, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0001337 Tremor ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
34 OMIM:615530 Parkinson Disease 20, Early-Onset RO:0002200 has phenotype HP:0000658 Eyelid apraxia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 127 OMIM:612953 Parkinson disease 14 RO:0002200 has phenotype HP:0001260 Dysarthria ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
35 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 128 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0100753 Schizophrenia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17027767|PMID:9171838|PMID:10447302|PMID:8789910|PMID:19396395 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
36 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0011968 Feeding difficulties ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 129 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
37 OMIM:615530 Parkinson Disease 20, Early-Onset RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 130 OMIM:612953 Parkinson disease 14 RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
38 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0001332 Dystonia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 131 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0007024 Pseudobulbar paralysis ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3366147|PMID:12201229|PMID:8648326|PMID:8780066|PMID:3828155 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
132 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0100660 Dyskinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
133 OMIM:607060 autosomal dominant Parkinson disease 8 RO:0002200 has phenotype HP:0000726 Dementia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
134 OMIM:105500 Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 RO:0002200 has phenotype HP:0003394 Muscle cramps ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
135 OMIM:612953 Parkinson disease 14 RO:0002200 has phenotype HP:0003236 Elevated serum creatine phosphokinase ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
136 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0002062 Morphological abnormality of the pyramidal tract ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
137 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0001332 Dystonia ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
138 OMIM:606693 Parkinson disease 9 RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
139 OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
140 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002307 Drooling ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:11340797|PMID:11340798|PMID:17892967|PMID:22021174|PMID:2130649 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
141 OMIM:260540 Parkinson-Dementia Syndrome RO:0002200 has phenotype HP:0002493 Upper motor neuron dysfunction ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
142 OMIM:606693 Parkinson disease 9 RO:0002200 has phenotype HP:0001257 Spasticity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
143 OMIM:612953 Parkinson disease 14 RO:0002200 has phenotype HP:0000605 Supranuclear gaze palsy ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
144 OMIM:616361 Parkinson disease 21 RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
145 OMIM:605543 Parkinson Disease 4, Autosomal Dominant RO:0002200 has phenotype HP:0011999 Paranoia ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
146 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0001337 Tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
147 OMIM:607060 autosomal dominant Parkinson disease 8 RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
148 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002180 Neurodegeneration ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17255333|PMID:23040108|PMID:16720791|PMID:23019375|PMID:20865164 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
149 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
150 OMIM:614251 Parkinson disease 18 RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
151 OMIM:606693 Parkinson disease 9 RO:0002200 has phenotype HP:0001336 Myoclonus ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
152 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000746 Delusions ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19507125|PMID:7652084|PMID:20538500|PMID:16239760|PMID:12814332 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
153 OMIM:168601 Parkinson disease 1 RO:0002200 has phenotype HP:0002015 Dysphagia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
154 OMIM:616361 Parkinson disease 21 RO:0002200 has phenotype HP:0001337 Tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
155 OMIM:607688 Parkinson disease 11 RO:0002200 has phenotype HP:0002322 Resting tremor ECO:0000269 experimental evidence used in manual assertion PMID:18358451 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
156 OMIM:605543 Parkinson Disease 4, Autosomal Dominant RO:0002200 has phenotype HP:0100315 Lewy bodies ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
157 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000822 Hypertension ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17761552|PMID:11041086|PMID:18166127|PMID:20032288|PMID:17514358 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
158 OMIM:105500 Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 RO:0002200 has phenotype HP:0001324 Muscle weakness ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
159 OMIM:260540 Parkinson-Dementia Syndrome RO:0002200 has phenotype HP:0002062 Morphological abnormality of the pyramidal tract ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
160 OMIM:605543 Parkinson Disease 4, Autosomal Dominant RO:0002200 has phenotype HP:0002459 Dysautonomia ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
161 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
162 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0000726 Dementia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
163 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0000298 Mask-like facies ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
164 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0002459 Dysautonomia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
165 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0002493 Upper motor neuron dysfunction ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
166 OMIM:168601 Parkinson disease 1 RO:0002200 has phenotype HP:0001268 Mental deterioration ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
167 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0002322 Resting tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
168 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
169 OMIM:168601 Parkinson disease 1 RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501|ECO:0000501 evidence used in automatic assertion|evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
170 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002304 Akinesia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21560065|PMID:9549521|PMID:3730813|PMID:2515716|PMID:21840512 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
171 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0100754 Mania ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12465087|PMID:15291663|PMID:20205149|PMID:12034798|PMID:3167408 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
172 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0007311 Short stepped shuffling gait ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
173 OMIM:606693 Parkinson disease 9 RO:0002200 has phenotype HP:0002304 Akinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
174 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0000716 Depression ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
175 OMIM:168601 Parkinson disease 1 RO:0002200 has phenotype HP:0001336 Myoclonus ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
176 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
177 OMIM:606693 Parkinson disease 9 RO:0002200 has phenotype HP:0001347 Hyperreflexia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
178 OMIM:607060 autosomal dominant Parkinson disease 8 RO:0002200 has phenotype HP:0011960 Substantia nigra gliosis ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
179 OMIM:607060 autosomal dominant Parkinson disease 8 RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
180 OMIM:615530 Parkinson disease 20, early-onset RO:0002200 has phenotype HP:0002362 Shuffling gait ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
181 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
182 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
183 OMIM:616361 Parkinson disease 21 RO:0002200 has phenotype HP:0100315 Lewy bodies ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
184 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
185 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000975 Hyperhidrosis ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7818245|PMID:15834763|PMID:22021174|PMID:20022689|PMID:14673882 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
39 OMIM:260540 Parkinson-Dementia Syndrome RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 186 OMIM:260540 Parkinson-Dementia Syndrome RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
40 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000975 Hyperhidrosis ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:22021174|PMID:7818245|PMID:20022689|PMID:14673882|PMID:15834763 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 187 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002359 Frequent falls ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10191839|PMID:21764079|PMID:22776044|PMID:18608364|PMID:20411272 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
41 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 188 OMIM:606324 Parkinson disease 7 RO:0002200 has phenotype HP:0002322 Resting tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
189 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000726 Dementia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:11041086|PMID:22043625|PMID:11949709|PMID:23803637|PMID:14558483 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
190 OMIM:615530 Parkinson disease 20, early-onset RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
42 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0000571 Hypometric saccades ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 191 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0000571 Hypometric saccades ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
43 OMIM:615530 Parkinson Disease 20, Early-Onset RO:0002200 has phenotype HP:0002362 Shuffling gait ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 192 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002367 Visual hallucinations ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20933338|PMID:16239760|PMID:17516497|PMID:7652084|PMID:16720791 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
44 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000726 Dementia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14558483|PMID:11041086|PMID:22043625|PMID:23803637|PMID:11949709 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
45 OMIM:606324 Parkinson Disease 7, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0002322 Resting tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
46 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
47 OMIM:616361 Parkinson Disease 21 RO:0002200 has phenotype HP:0100315 Lewy bodies ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
48 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
49 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002511 Alzheimer disease ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9843162|PMID:7652084|PMID:19367511|PMID:17514358|PMID:1311375 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
50 OMIM:616361 Parkinson Disease 21 RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
51 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0001260 Dysarthria ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
52 OMIM:614203 Parkinson Disease 17 RO:0002200 has phenotype HP:0002322 Resting tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
53 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002367 Visual hallucinations ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:16720791|PMID:7652084|PMID:20933338|PMID:16239760|PMID:17516497 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
54 OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 193 OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
55 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0002019 Constipation ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 194 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0002019 Constipation ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
56 OMIM:168601 autosomal dominant Parkinson disease 1 RO:0002200 has phenotype HP:0002322 Resting tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 195 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002511 Alzheimer disease ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9843162|PMID:17514358|PMID:7652084|PMID:1311375|PMID:19367511 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
57 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0003470 Paralysis ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15728291|PMID:12654954|PMID:22130148|PMID:21560060|PMID:6231489 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 196 OMIM:616361 Parkinson disease 21 RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
197 OMIM:614203 Parkinson Disease 17 RO:0002200 has phenotype HP:0002322 Resting tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
198 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0001260 Dysarthria ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
199 OMIM:614203 Parkinson Disease 17 RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
200 OMIM:168601 Parkinson disease 1 RO:0002200 has phenotype HP:0002322 Resting tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
201 OMIM:105500 Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 RO:0002200 has phenotype HP:0002366 Abnormal lower motor neuron morphology ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
202 OMIM:615530 Parkinson disease 20, early-onset RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
203 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17048150|PMID:14558491|PMID:15767513|PMID:8158173|PMID:20055267 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
204 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0003470 Paralysis ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12654954|PMID:22130148|PMID:6231489|PMID:21560060|PMID:15728291 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
58 OMIM:610297 Parkinson Disease 13, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 205 OMIM:610297 Parkinson Disease 13, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
59 OMIM:105500 Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 RO:0002200 has phenotype HP:0002366 Abnormal lower motor neuron morphology ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 206 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0011968 Feeding difficulties ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
60 OMIM:615530 Parkinson Disease 20, Early-Onset RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 207 OMIM:612953 Parkinson disease 14 RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
61 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14558491|PMID:15767513|PMID:17048150|PMID:8158173|PMID:20055267 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 208 OMIM:168601 Parkinson disease 1 RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
62 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002359 Frequent falls ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20411272|PMID:10191839|PMID:21764079|PMID:22776044|PMID:18608364 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 209 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
63 OMIM:614203 Parkinson Disease 17 RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 210 OMIM:615530 Parkinson disease 20, early-onset RO:0002200 has phenotype HP:0000658 Eyelid apraxia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
64 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002304 Akinesia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21840512|PMID:2515716|PMID:3730813|PMID:21560065|PMID:9549521 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 211 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0001332 Dystonia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
65 OMIM:607060 autosomal dominant Parkinson disease 8 RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 212 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0001337 Tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
66 OMIM:168601 autosomal dominant Parkinson disease 1 RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501|ECO:0000501 evidence used in automatic assertion|evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 213 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0100022 Abnormality of movement ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21696993|PMID:17516489|PMID:17013911|PMID:17013922|PMID:22245219 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
67 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0000716 Depression ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 214 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002076 Migraine ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15090934|PMID:3431838|PMID:16341290|PMID:16870487|PMID:22037955 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
68 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 215 OMIM:607688 Parkinson disease 11 RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000269 experimental evidence used in manual assertion PMID:18358451 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
69 OMIM:168601 autosomal dominant Parkinson disease 1 RO:0002200 has phenotype HP:0001336 Myoclonus ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 216 OMIM:168100 Paralysis Agitans, Juvenile, of Hunt RO:0002200 has phenotype HP:0001939 Abnormality of metabolism/homeostasis ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
70 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0001347 Hyperreflexia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 217 OMIM:260540 Parkinson-Dementia Syndrome RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
71 OMIM:607060 autosomal dominant Parkinson disease 8 RO:0002200 has phenotype HP:0011960 Substantia nigra gliosis ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 218 OMIM:168100 Paralysis Agitans, Juvenile, of Hunt RO:0002200 has phenotype HP:0001288 Gait disturbance ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
72 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0001337 Tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 219 OMIM:105500 Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
73 OMIM:607060 autosomal dominant Parkinson disease 8 RO:0002200 has phenotype HP:0000726 Dementia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 220 OMIM:610297 Parkinson Disease 13, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
74 OMIM:605543 Parkinson Disease 4, Autosomal Dominant RO:0002200 has phenotype HP:0011999 Paranoia ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 221 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002174 Postural tremor ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19067999|PMID:17048150|PMID:19242649|PMID:20055267|PMID:18456512 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
75 OMIM:105500 Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 RO:0002200 has phenotype HP:0003394 Muscle cramps ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 222 OMIM:612953 Parkinson disease 14 RO:0002200 has phenotype HP:0000751 Personality changes ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
76 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0003236 Elevated serum creatine phosphokinase ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 223 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0000012 Urinary urgency ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
77 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0007311 Short stepped shuffling gait ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 224 OMIM:605543 Parkinson Disease 4, Autosomal Dominant RO:0002200 has phenotype HP:0000738 Hallucinations ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
78 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0100754 Mania ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3167408|PMID:15291663|PMID:20205149|PMID:12034798|PMID:12465087 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 225 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0003881 Humeral sclerosis ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19479510|PMID:10675426|PMID:21309754|PMID:9113500|PMID:22023479 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
79 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0002304 Akinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 226 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
80 OMIM:607060 autosomal dominant Parkinson disease 8 RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 227 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0008936 Muscular hypotonia of the trunk ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
81 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002307 Drooling ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:11340798|PMID:2130649|PMID:11340797|PMID:17892967|PMID:22021174 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 228 OMIM:606693 Parkinson disease 9 RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
82 OMIM:607688 Parkinson Disease 11, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000269 experimental evidence used in manual assertion PMID:18358451 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 229 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0002019 Constipation ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
83 OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
84 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0000605 Supranuclear gaze palsy ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
85 OMIM:616361 Parkinson Disease 21 RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
86 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0001257 Spasticity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
87 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0002062 Morphological abnormality of the pyramidal tract ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
88 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0100660 Dyskinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
89 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
90 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
91 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0007024 Pseudobulbar paralysis ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3828155|PMID:8648326|PMID:3366147|PMID:8780066|PMID:12201229 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
92 OMIM:260540 Parkinson-Dementia Syndrome RO:0002200 has phenotype HP:0002493 Upper motor neuron dysfunction ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
93 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0001332 Dystonia ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
94 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
95 OMIM:606324 Parkinson Disease 7, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
96 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002356 Writer's cramp ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17131231|PMID:3504239|PMID:19232169|PMID:2296384|PMID:9074398 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
97 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0003006 Neuroblastoma ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20026175|PMID:8341291|PMID:10737593|PMID:12787066|PMID:18411255 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
98 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0000298 Mask-like facies ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
99 OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
100 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002018 Nausea ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17516484|PMID:21843110|PMID:19768728|PMID:2515717|PMID:6180142 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
101 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0000716 Depression ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
102 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0001347 Hyperreflexia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
103 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
104 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001336 Myoclonus ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18686651|PMID:1965204|PMID:2067442|PMID:12465085|PMID:2350935 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
105 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0000718 Aggressive behavior ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
106 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001249 Intellectual disability ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17548778|PMID:21257332|PMID:8665730|PMID:1618013|PMID:12836419 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
107 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0001347 Hyperreflexia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
108 OMIM:607060 autosomal dominant Parkinson disease 8 RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
109 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0001337 Tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
110 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001000 Abnormality of skin pigmentation ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:6499297|PMID:7715783|PMID:7771778|PMID:10737635|PMID:8731382 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
111 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0001263 Global developmental delay ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
112 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0003487 Babinski sign ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
113 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0002061 Lower limb spasticity ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
114 OMIM:260540 Parkinson-Dementia Syndrome RO:0002200 has phenotype HP:0001337 Tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
115 OMIM:168100 Paralysis Agitans, Juvenile, of Hunt RO:0002200 has phenotype HP:0001260 Dysarthria ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
116 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002529 Neuronal loss in central nervous system ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23380027|PMID:17516497|PMID:18715146|PMID:22899187|PMID:17931705 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
117 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0000738 Hallucinations ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
118 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0001257 Spasticity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
119 OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile RO:0002200 has phenotype HP:0001347 Hyperreflexia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
120 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0001260 Dysarthria ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
121 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0000012 Urinary urgency ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
122 OMIM:168601 autosomal dominant Parkinson disease 1 RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
123 OMIM:610297 Parkinson Disease 13, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
124 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0001268 Mental deterioration ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
125 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0002362 Shuffling gait ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 230 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0002362 Shuffling gait ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
126 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0008936 Muscular hypotonia of the trunk ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
127 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
128 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0002019 Constipation ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
129 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0001250 Seizures ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
130 OMIM:616361 Parkinson Disease 21 RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
131 OMIM:605543 Parkinson Disease 4, Autosomal Dominant RO:0002200 has phenotype HP:0001278 Orthostatic hypotension ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
132 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 231 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
133 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0000751 Personality changes ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 232 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0000751 Personality changes ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
233 OMIM:606693 Parkinson disease 9 RO:0002200 has phenotype HP:0001250 Seizures ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
234 OMIM:616361 Parkinson disease 21 RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
235 OMIM:605543 Parkinson Disease 4, Autosomal Dominant RO:0002200 has phenotype HP:0001278 Orthostatic hypotension ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
236 OMIM:260540 Parkinson-Dementia Syndrome RO:0002200 has phenotype HP:0000726 Dementia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
134 OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile RO:0002200 has phenotype HP:0001337 Tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 237 OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile RO:0002200 has phenotype HP:0001337 Tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
135 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 238 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001337 Tremor ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23047004|PMID:22976499|PMID:17516492|PMID:11949716|PMID:14558490 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
136 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002331 Headache (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20464588|PMID:1807237|PMID:326325|PMID:11195537|PMID:17370756 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 239 OMIM:607060 autosomal dominant Parkinson disease 8 RO:0002200 has phenotype HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
137 OMIM:606324 Parkinson Disease 7, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0000643 Blepharospasm ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 240 OMIM:615530 Parkinson disease 20, early-onset RO:0002200 has phenotype HP:0001332 Dystonia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
241 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0001249 Intellectual disability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
242 OMIM:606324 Parkinson disease 7 RO:0002200 has phenotype HP:0000643 Blepharospasm ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
243 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
138 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0002360 Sleep disturbance ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 244 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0002360 Sleep disturbance ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
139 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0011960 Substantia nigra gliosis ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 245 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0011960 Substantia nigra gliosis ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
140 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 246 OMIM:606324 Parkinson disease 7 RO:0002200 has phenotype HP:0000725 Psychotic episodes ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
141 OMIM:168601 autosomal dominant Parkinson disease 1 RO:0002200 has phenotype HP:0002362 Shuffling gait ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
142 OMIM:615530 Parkinson Disease 20, Early-Onset RO:0002200 has phenotype HP:0001332 Dystonia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
143 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0001249 Intellectual disability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
144 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0001332 Dystonia ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
145 OMIM:614203 Parkinson Disease 17 RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 247 OMIM:614203 Parkinson Disease 17 RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
146 OMIM:606324 Parkinson Disease 7, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0000725 Psychotic episodes ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 248 OMIM:612953 Parkinson disease 14 RO:0002200 has phenotype HP:0001332 Dystonia ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
147 OMIM:260540 Parkinson-Dementia Syndrome RO:0002200 has phenotype HP:0000726 Dementia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 249 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002331 Headache (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:11195537|PMID:326325|PMID:20464588|PMID:1807237|PMID:17370756 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
148 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0000012 Urinary urgency ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 250 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
149 OMIM:605543 Parkinson Disease 4, Autosomal Dominant RO:0002200 has phenotype HP:0000738 Hallucinations ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 251 OMIM:168601 Parkinson disease 1 RO:0002200 has phenotype HP:0002362 Shuffling gait ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
150 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002174 Postural tremor ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19067999|PMID:20055267|PMID:18456512|PMID:19242649|PMID:17048150 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 252 OMIM:610297 Parkinson Disease 13, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
151 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0000751 Personality changes ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 253 OMIM:612953 Parkinson disease 14 RO:0002200 has phenotype HP:0001268 Mental deterioration ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
152 OMIM:168100 Paralysis Agitans, Juvenile, of Hunt RO:0002200 has phenotype HP:0001288 Gait disturbance ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 254 OMIM:615530 Parkinson disease 20, early-onset RO:0002200 has phenotype HP:0001268 Mental deterioration ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
153 OMIM:610297 Parkinson Disease 13, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 255 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0001621 Weak voice ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
154 OMIM:105500 Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 256 OMIM:168601 Parkinson disease 1 RO:0002200 has phenotype HP:0000012 Urinary urgency ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
155 OMIM:607060 autosomal dominant Parkinson disease 8 RO:0002200 has phenotype HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 257 OMIM:606693 Parkinson disease 9 RO:0002200 has phenotype HP:0000605 Supranuclear gaze palsy ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
156 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001337 Tremor ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14558490|PMID:22976499|PMID:23047004|PMID:11949716|PMID:17516492 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 258 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000011 Neurogenic bladder ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1965204|PMID:16855424|PMID:22331071|PMID:12922929|PMID:12756142 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
157 OMIM:168100 Paralysis Agitans, Juvenile, of Hunt RO:0002200 has phenotype HP:0001939 Abnormality of metabolism/homeostasis ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 259 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001824 Weight loss ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20028343|PMID:15595933|PMID:16773618|PMID:21192784|PMID:11241387 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
158 OMIM:607688 Parkinson Disease 11, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000269 experimental evidence used in manual assertion PMID:18358451 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 260 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
159 OMIM:168601 autosomal dominant Parkinson disease 1 RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 261 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000711 Restlessness ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21560064|PMID:12390050|PMID:20683503|PMID:23047004|PMID:2350935 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
160 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 262 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001266 Choreoathetosis ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:6457534|PMID:1052297|PMID:9686783|PMID:2330103|PMID:16364674 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
161 OMIM:260540 Parkinson-Dementia Syndrome RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 263 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0100315 Lewy bodies ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
264 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23803638|PMID:22204976|PMID:16720791|PMID:23803637|PMID:16093408 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
265 OMIM:605543 Parkinson Disease 4, Autosomal Dominant RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
266 OMIM:168601 Parkinson disease 1 RO:0002200 has phenotype HP:0001260 Dysarthria ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
267 OMIM:607060 autosomal dominant Parkinson disease 8 RO:0002200 has phenotype HP:0002322 Resting tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
268 OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile RO:0002200 has phenotype HP:0001332 Dystonia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
269 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002019 Constipation ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21560061|PMID:23408927|PMID:22021174|PMID:19717168|PMID:12814332 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
270 OMIM:614203 Parkinson Disease 17 RO:0002200 has phenotype HP:0100660 Dyskinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
271 OMIM:614251 Parkinson disease 18 RO:0002200 has phenotype HP:0002322 Resting tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
272 OMIM:605543 Parkinson Disease 4, Autosomal Dominant RO:0002200 has phenotype HP:0001824 Weight loss ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
273 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0002015 Dysphagia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
274 OMIM:168100 Paralysis Agitans, Juvenile, of Hunt RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
275 OMIM:606324 Parkinson disease 7 RO:0002200 has phenotype HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
276 OMIM:614251 Parkinson disease 18 RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
277 OMIM:614251 Parkinson disease 18 RO:0002200 has phenotype HP:0100315 Lewy bodies ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
278 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0002020 Gastroesophageal reflux ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
162 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0002194 Delayed gross motor development ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 279 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0002194 Delayed gross motor development ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
163 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0001347 Hyperreflexia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 280 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0000716 Depression ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
164 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0000726 Dementia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 281 OMIM:606693 Parkinson disease 9 RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
165 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0100753 Schizophrenia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10447302|PMID:19396395|PMID:8789910|PMID:17027767|PMID:9171838 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 282 OMIM:612953 Parkinson disease 14 RO:0002200 has phenotype HP:0001347 Hyperreflexia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
166 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | 283 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001336 Myoclonus ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2350935|PMID:1965204|PMID:12465085|PMID:2067442|PMID:18686651 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
167 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002353 EEG abnormality ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1714807|PMID:16483454|PMID:2605826|PMID:1753458|PMID:7489659 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
168 OMIM:260540 Parkinson-Dementia Syndrome RO:0002200 has phenotype HP:0002751 Kyphoscoliosis ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
169 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000020 Urinary incontinence ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12814332|PMID:15895303|PMID:19135266|PMID:22331072|PMID:20429324 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
170 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0001332 Dystonia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
171 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000733 Stereotypic behavior ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21072531|PMID:563012|PMID:16934409|PMID:3670611|PMID:6138131 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
172 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0100660 Dyskinesia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17013916|PMID:7146724|PMID:22043624|PMID:17516484|PMID:21729402 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
173 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0011951 Aspiration pneumonia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21098406|PMID:12970031|PMID:12404752|PMID:20518603|PMID:20869620 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
174 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0004409 Hyposmia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17508142|PMID:22035024|PMID:18322371|PMID:21560061|PMID:21387694 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
175 OMIM:615530 Parkinson Disease 20, Early-Onset RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
176 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
177 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002167 Neurological speech impairment ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19864662|PMID:8162135|PMID:15767513|PMID:22772465|PMID:22706836 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
178 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0002283 Global brain atrophy ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
179 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0002072 Chorea ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
180 OMIM:168100 Paralysis Agitans, Juvenile, of Hunt RO:0002200 has phenotype HP:0000298 Mask-like facies ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
181 OMIM:615530 Parkinson Disease 20, Early-Onset RO:0002200 has phenotype HP:0001260 Dysarthria ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
182 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002615 Hypotension ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7296422|PMID:6441537|PMID:1300258|PMID:6180142|PMID:1300256 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
183 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
184 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20055267|PMID:12948464|PMID:3747258|PMID:17048150|PMID:22130147 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
185 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0002071 Abnormality of extrapyramidal motor function ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
186 OMIM:615530 Parkinson Disease 20, Early-Onset RO:0002200 has phenotype HP:0000605 Supranuclear gaze palsy ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
187 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0000726 Dementia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
188 OMIM:168601 autosomal dominant Parkinson disease 1 RO:0002200 has phenotype HP:0002360 Sleep disturbance ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
189 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0100315 Lewy bodies ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:22043625|PMID:22245218|PMID:20055267|PMID:16093408|PMID:17516497 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
190 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0000738 Hallucinations ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
191 OMIM:607688 Parkinson Disease 11, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000269 experimental evidence used in manual assertion PMID:18358451 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
192 OMIM:105500 Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 RO:0002200 has phenotype HP:0000726 Dementia ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
193 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
194 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001278 Orthostatic hypotension ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21560061|PMID:16906622|PMID:12654979|PMID:12814332|PMID:5386267 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
195 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0000725 Psychotic episodes ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
196 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0000514 Slow saccadic eye movements ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
197 OMIM:168601 autosomal dominant Parkinson disease 1 RO:0002200 has phenotype HP:0001332 Dystonia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
198 OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
199 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002322 Resting tremor ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20055267|PMID:9426865|PMID:19176228|PMID:19858460|PMID:17048150 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
200 OMIM:610297 Parkinson Disease 13, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0001337 Tremor ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
201 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0001260 Dysarthria ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
202 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0000718 Aggressive behavior ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
203 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
204 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0002312 Clumsiness ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
205 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0004409 Hyposmia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
206 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0000458 Anosmia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
207 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0100543 Cognitive impairment ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18178571|PMID:17516457|PMID:9387801|PMID:18682443|PMID:20832408 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
208 OMIM:168601 autosomal dominant Parkinson disease 1 RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
209 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000738 Hallucinations ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:22043626|PMID:19507125|PMID:12814332|PMID:19680598|PMID:17548778 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
210 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0001260 Dysarthria ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
211 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0001336 Myoclonus ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
212 OMIM:168100 Paralysis Agitans, Juvenile, of Hunt RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
213 OMIM:607060 autosomal dominant Parkinson disease 8 RO:0002200 has phenotype HP:0004409 Hyposmia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
214 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0003487 Babinski sign ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
215 OMIM:606324 Parkinson Disease 7, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
216 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0006892 Frontotemporal cerebral atrophy ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
217 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0002936 Distal sensory impairment ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
218 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0000473 Torticollis ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
219 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0001762 Talipes equinovarus ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
220 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0002425 Anarthria ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
221 OMIM:614203 Parkinson Disease 17 RO:0002200 has phenotype HP:0002304 Akinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
222 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0001257 Spasticity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
223 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0000726 Dementia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
224 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0000298 Mask-like facies ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
225 OMIM:105500 Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 RO:0002200 has phenotype HP:0001324 Muscle weakness ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
226 OMIM:605543 Parkinson Disease 4, Autosomal Dominant RO:0002200 has phenotype HP:0002459 Dysautonomia ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
227 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
228 OMIM:260540 Parkinson-Dementia Syndrome RO:0002200 has phenotype HP:0002062 Morphological abnormality of the pyramidal tract ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
229 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
230 OMIM:614251 Parkinson Disease 18, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
231 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0002529 Neuronal loss in central nervous system ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
232 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0100595 Camptocormia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17027115|PMID:19864661|PMID:21389682|PMID:12671947|PMID:23994926 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
233 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0001250 Seizures ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
234 OMIM:168100 Paralysis Agitans, Juvenile, of Hunt RO:0002200 has phenotype HP:0001337 Tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
235 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0002493 Upper motor neuron dysfunction ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
236 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
237 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0001332 Dystonia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
238 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0002322 Resting tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
239 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0002459 Dysautonomia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
240 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0002493 Upper motor neuron dysfunction ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
241 OMIM:168601 autosomal dominant Parkinson disease 1 RO:0002200 has phenotype HP:0001268 Mental deterioration ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
242 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000722 Obsessive-compulsive behavior ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20205149|PMID:15639176|PMID:21764406|PMID:22604202|PMID:23318227 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
243 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
244 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002180 Neurodegeneration ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20865164|PMID:23040108|PMID:23019375|PMID:17255333|PMID:16720791 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
245 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
246 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
247 OMIM:616361 Parkinson Disease 21 RO:0002200 has phenotype HP:0001337 Tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
248 OMIM:168601 autosomal dominant Parkinson disease 1 RO:0002200 has phenotype HP:0002015 Dysphagia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
249 OMIM:607688 Parkinson Disease 11, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000269 experimental evidence used in manual assertion PMID:18358451 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
250 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0002385 Paraparesis ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
251 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0012407 Scissor gait ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
252 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001324 Muscle weakness ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8682529|PMID:17931671|PMID:15372591|PMID:18313370|PMID:7659761 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
253 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002017 Nausea and vomiting ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15495119|PMID:7195483|PMID:10091630|PMID:6481422|PMID:9756144 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
254 OMIM:260540 Parkinson-Dementia Syndrome RO:0002200 has phenotype HP:0000597 Ophthalmoparesis ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
255 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0001337 Tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
256 OMIM:606324 Parkinson Disease 7, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0002174 Postural tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
257 OMIM:615530 Parkinson Disease 20, Early-Onset RO:0002200 has phenotype HP:0001337 Tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
258 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
259 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000017 Nocturia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:11741097|PMID:8369103|PMID:19404716|PMID:20205139|PMID:21264941 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
260 OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile RO:0002200 has phenotype HP:0011960 Substantia nigra gliosis ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
261 OMIM:105500 Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 RO:0002200 has phenotype HP:0007354 Amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
262 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002072 Chorea ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1656540|PMID:1557069|PMID:21729402|PMID:9387799|PMID:39737 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
263 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0010524 Agnosia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2932922|PMID:12796834|PMID:15782604|PMID:9686278|PMID:3263977 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
264 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000709 Psychosis ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21630354|PMID:12814332|PMID:17013906|PMID:10727476|PMID:22245219 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
265 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0002451 Limb dystonia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
266 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:22402215|PMID:11949716|PMID:9513304|PMID:20055267|PMID:17048150 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
267 OMIM:168100 Paralysis Agitans, Juvenile, of Hunt RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
268 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001332 Dystonia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2515718|PMID:6231489|PMID:22976499|PMID:2579626|PMID:7715793 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
269 OMIM:614251 Parkinson Disease 18, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
270 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0000514 Slow saccadic eye movements ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
271 OMIM:614203 Parkinson Disease 17 RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
272 OMIM:614203 Parkinson Disease 17 RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
273 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
274 OMIM:105500 Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 RO:0002200 has phenotype HP:0001283 Bulbar palsy ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
275 OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile RO:0002200 has phenotype HP:0001288 Gait disturbance ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
276 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000751 Personality changes ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21560061|PMID:16908734|PMID:21845593|PMID:9426865|PMID:18346925 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
277 OMIM:616361 Parkinson Disease 21 RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
278 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002321 Vertigo ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19479494|PMID:21843110|PMID:19768728|PMID:2515717|PMID:12814332 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
279 OMIM:607688 Parkinson Disease 11, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0002322 Resting tremor ECO:0000269 experimental evidence used in manual assertion PMID:18358451 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
280 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000746 Delusions ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12814332|PMID:16239760|PMID:7652084|PMID:19507125|PMID:20538500 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
281 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000822 Hypertension ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18166127|PMID:20032288|PMID:11041086|PMID:17761552|PMID:17514358 http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
282 OMIM:605543 Parkinson Disease 4, Autosomal Dominant RO:0002200 has phenotype HP:0100315 Lewy bodies ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct | |
283 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000012 Urinary urgency ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3942028|PMID:14521485|PMID:18327532|PMID:19908315|PMID:11570707 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |