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annotate test-data/phenotypes-for-diseases-union.tsv @ 9:5fa1f0ca69cc draft default tip

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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
author nathandunn
date Sun, 25 Sep 2016 21:59:32 -0400
parents 61d8060bf2ed
children
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5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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1 OMIM:615528 Parkinson disease 19a, juvenile-onset RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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2 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002331 Recurrent paroxysmal headache ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17370756|PMID:1807237|PMID:11195537|PMID:326325|PMID:20464588 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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3 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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4 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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5 OMIM:615528 Parkinson disease 19a, 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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6 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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7 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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8 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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9 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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10 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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11 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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12 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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13 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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14 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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15 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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16 OMIM:311510 Parkinsonism, early onset with mental retardation RO:0002200 has phenotype HP:0000486 Strabismus ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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17 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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18 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002167 Neurological speech impairment ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15767513|PMID:22706836|PMID:8162135|PMID:22772465|PMID:19864662 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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19 OMIM:612953 Adult-onset dystonia-parkinsonism RO:0002200 has phenotype HP:0002283 Global brain atrophy ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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20 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0004409 Hyposmia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18322371|PMID:21387694|PMID:21560061|PMID:17508142|PMID:22035024 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
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21 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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
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22 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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
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23 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
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5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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24 OMIM:615528 Parkinson disease 19a, juvenile-onset RO:0002200 has phenotype HP:0001332 Dystonia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
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25 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
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26 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:20429324|PMID:22331072|PMID:19135266 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
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27 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000733 Stereotypy ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:6138131|PMID:16934409|PMID:21072531|PMID:563012|PMID:3670611 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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28 OMIM:311510 Parkinsonism, early onset with mental retardation RO:0002200 has phenotype HP:0002322 Resting tremor ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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29 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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30 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:19858460|PMID:9426865|PMID:17048150|PMID:19176228 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
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31 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001278 Orthostatic hypotension ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12654979|PMID:16906622|PMID:5386267|PMID:12814332|PMID:21560061 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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32 OMIM:612953 Adult-onset dystonia-parkinsonism RO:0002200 has phenotype HP:0001257 Spasticity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
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33 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
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34 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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35 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
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36 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:1753458|PMID:1714807|PMID:7489659|PMID:2605826 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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37 OMIM:612953 Adult-onset dystonia-parkinsonism RO:0002200 has phenotype HP:0001260 Dysarthria ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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38 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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39 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0100753 Schizophrenia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8789910|PMID:17027767|PMID:19396395|PMID:9171838|PMID:10447302 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
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40 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
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41 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
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42 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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43 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
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44 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
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45 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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46 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
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47 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:17516497|PMID:17931705|PMID:18715146|PMID:22899187|PMID:23380027 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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48 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
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49 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
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50 OMIM:615528 Parkinson disease 19a, juvenile-onset RO:0002200 has phenotype HP:0001337 Tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
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51 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001249 Intellectual disability ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1618013|PMID:8665730|PMID:21257332|PMID:12836419|PMID:17548778 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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52 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
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53 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0003006 Neuroblastoma ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18411255|PMID:20026175|PMID:8341291|PMID:12787066|PMID:10737593 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
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54 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
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55 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
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56 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:2296384|PMID:17131231|PMID:9074398 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
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57 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
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58 OMIM:311510 Parkinsonism, early onset with mental retardation RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
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59 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:7715783|PMID:6499297|PMID:10737635|PMID:8731382|PMID:7771778 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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60 OMIM:311510 Parkinsonism, early onset with mental retardation RO:0002200 has phenotype HP:0100543 Cognitive impairment ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
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61 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
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62 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
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63 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002018 Nausea ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19768728|PMID:21843110|PMID:6180142|PMID:17516484|PMID:2515717 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
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64 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002304 Akinesia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3730813|PMID:2515716|PMID:9549521|PMID:21840512|PMID:21560065 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
65 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
66 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
67 OMIM:612953 Adult-onset dystonia-parkinsonism RO:0002200 has phenotype HP:0001347 Hyperreflexia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
68 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001336 Myoclonus ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1965204|PMID:18686651|PMID:12465085|PMID:2350935|PMID:2067442 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
69 OMIM:612953 Adult-onset dystonia-parkinsonism RO:0002200 has phenotype HP:0000718 Aggressive behavior ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
70 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
71 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
72 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
73 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
74 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20055267|PMID:14558491|PMID:17048150|PMID:8158173|PMID:15767513 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
75 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0003470 Paralysis ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:22130148|PMID:6231489|PMID:21560060|PMID:12654954|PMID:15728291 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
76 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002367 Visual hallucinations ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7652084|PMID:17516497|PMID:20933338|PMID:16239760|PMID:16720791 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
77 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
78 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
79 OMIM:616361 PARK21 RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
80 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002511 Alzheimer disease ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7652084|PMID:9843162|PMID:1311375|PMID:17514358|PMID:19367511 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
81 OMIM:615528 Parkinson disease 19a, juvenile-onset RO:0002200 has phenotype HP:0001260 Dysarthria ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
82 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
83 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
84 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
85 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
86 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
87 OMIM:616361 PARK21 RO:0002200 has phenotype HP:0100315 Lewy bodies ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
88 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
89 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000975 Hyperhidrosis ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:22021174|PMID:15834763|PMID:7818245|PMID:20022689|PMID:14673882 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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90 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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91 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
92 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
93 OMIM:615528 Parkinson disease 19a, 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
94 OMIM:311510 Parkinsonism, early onset with mental retardation RO:0002200 has phenotype HP:0000256 Macrocephaly ECO:0000304|ECO:0000501 traceable author statement used in manual assertion|evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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95 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
96 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:20411272|PMID:22776044|PMID:21764079|PMID:18608364 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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97 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000726 Dementia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:11949709|PMID:11041086|PMID:23803637|PMID:14558483|PMID:22043625 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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98 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
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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99 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
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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100 OMIM:311510 Parkinsonism, early onset with mental retardation RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
0
850bb90bd667 planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
nathandunn
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101 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
850bb90bd667 planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
nathandunn
parents:
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102 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
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
103 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
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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104 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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105 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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106 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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107 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0100022 Abnormality of movement ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17013922|PMID:17013911|PMID:21696993|PMID:22245219|PMID:17516489 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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108 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002076 Migraine ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15090934|PMID:22037955|PMID:16341290|PMID:16870487|PMID:3431838 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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109 OMIM:612953 Adult-onset dystonia-parkinsonism RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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parents: 7
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110 OMIM:612953 Adult-onset dystonia-parkinsonism RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
111 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
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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112 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0007024 Pseudobulbar paralysis ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12201229|PMID:8780066|PMID:3366147|PMID:8648326|PMID:3828155 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
113 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
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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114 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:19479510|PMID:9113500|PMID:10675426|PMID:22023479 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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115 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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116 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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parents: 7
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117 OMIM:612953 Adult-onset dystonia-parkinsonism RO:0002200 has phenotype HP:0000605 Supranuclear gaze palsy ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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parents: 7
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118 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:17892967|PMID:22021174|PMID:11340797 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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119 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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120 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
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
121 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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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122 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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
123 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
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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124 OMIM:616361 PARK21 RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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125 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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126 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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127 OMIM:612953 Adult-onset dystonia-parkinsonism 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
128 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
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
129 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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
130 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
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
131 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
132 OMIM:615528 Parkinson disease 19a, juvenile-onset RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
133 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
134 OMIM:311510 Parkinsonism, early onset with mental retardation RO:0002200 has phenotype HP:0001260 Dysarthria ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
135 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
136 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
137 OMIM:311510 Parkinsonism, early onset with mental retardation RO:0002200 has phenotype HP:0001250 Seizures ECO:0000304|ECO:0000304 traceable author statement used in manual assertion|traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
138 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
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
139 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
140 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0100754 Mania ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12034798|PMID:3167408|PMID:20205149|PMID:15291663|PMID:12465087 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
141 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
142 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
143 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001266 Choreoathetosis ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:16364674|PMID:2330103|PMID:9686783|PMID:6457534|PMID:1052297 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
144 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000711 Restlessness ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2350935|PMID:12390050|PMID:23047004|PMID:20683503|PMID:21560064 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
145 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
146 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
147 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23803638|PMID:16093408|PMID:22204976|PMID:16720791|PMID:23803637 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
148 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
149 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
150 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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151 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
152 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000011 Neurogenic bladder ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12922929|PMID:1965204|PMID:12756142|PMID:22331071|PMID:16855424 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
153 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:21192784|PMID:15595933|PMID:16773618|PMID:11241387 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
154 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
155 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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156 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
157 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002019 Constipation ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:22021174|PMID:21560061|PMID:12814332|PMID:23408927|PMID:19717168 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
158 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
159 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
160 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
161 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
162 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
163 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
164 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
165 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
166 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
167 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
168 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
169 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000822 Hypertension ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17514358|PMID:11041086|PMID:17761552|PMID:18166127|PMID:20032288 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
170 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
171 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000012 Urinary urgency ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14521485|PMID:11570707|PMID:19908315|PMID:18327532|PMID:3942028 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
172 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
173 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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174 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002180 Neurodegeneration ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23040108|PMID:16720791|PMID:23019375|PMID:20865164|PMID:17255333 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
175 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
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
176 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
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
177 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
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
178 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
179 OMIM:615528 Parkinson disease 19a, 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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180 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
181 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
182 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
183 OMIM:311510 Parkinsonism, early onset with mental retardation RO:0002200 has phenotype HP:0002167 Neurological speech impairment ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
184 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
185 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000746 Delusions ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20538500|PMID:16239760|PMID:7652084|PMID:12814332|PMID:19507125 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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186 OMIM:616361 PARK21 RO:0002200 has phenotype HP:0001337 Tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
187 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
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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188 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
189 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0100543 Cognitive impairment ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20832408|PMID:9387801|PMID:18178571|PMID:18682443|PMID:17516457 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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190 OMIM:612953 Adult-onset dystonia-parkinsonism RO:0002200 has phenotype HP:0002312 Clumsiness ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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191 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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192 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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193 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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194 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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diff changeset
195 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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196 OMIM:311510 Parkinsonism, early onset with mental retardation RO:0002200 has phenotype HP:0001355 Megalencephaly ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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197 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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198 OMIM:612953 Adult-onset dystonia-parkinsonism RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
199 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12948464|PMID:20055267|PMID:17048150|PMID:3747258|PMID:22130147 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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200 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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201 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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202 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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203 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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204 OMIM:612953 Adult-onset dystonia-parkinsonism 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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205 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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206 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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207 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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208 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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209 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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210 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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211 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002615 Hypotension ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7296422|PMID:1300256|PMID:6180142|PMID:6441537|PMID:1300258 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
212 OMIM:311510 Parkinsonism, early onset with mental retardation RO:0002200 has phenotype HP:0001257 Spasticity ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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213 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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214 OMIM:311510 Parkinsonism, early onset with mental retardation RO:0002200 has phenotype HP:0002396 Cogwheel rigidity ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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215 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0100315 Lewy bodies ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:22245218|PMID:22043625|PMID:16093408|PMID:20055267|PMID:17516497 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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216 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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217 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000738 Hallucinations ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17548778|PMID:19680598|PMID:19507125|PMID:12814332|PMID:22043626 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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218 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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219 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0011951 Aspiration pneumonia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20518603|PMID:20869620|PMID:12404752|PMID:12970031|PMID:21098406 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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220 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0100660 Dyskinesia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17516484|PMID:21729402|PMID:22043624|PMID:17013916|PMID:7146724 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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221 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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222 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001332 Dystonia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7715793|PMID:2579626|PMID:22976499|PMID:2515718|PMID:6231489 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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223 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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224 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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225 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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226 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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227 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000709 Psychosis ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:22245219|PMID:12814332|PMID:17013906|PMID:21630354|PMID:10727476 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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228 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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229 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0010524 Agnosia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9686278|PMID:12796834|PMID:2932922|PMID:3263977|PMID:15782604 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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230 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9513304|PMID:11949716|PMID:20055267|PMID:17048150|PMID:22402215 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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231 OMIM:616361 PARK21 RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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232 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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parents: 7
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233 OMIM:615528 Parkinson disease 19a, 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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234 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002321 Vertigo ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19768728|PMID:2515717|PMID:21843110|PMID:12814332|PMID:19479494 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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235 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:12671947|PMID:21389682|PMID:23994926 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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236 OMIM:311510 Parkinsonism, early onset with mental retardation RO:0002200 has phenotype HP:0001263 Global developmental delay ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
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parents: 0
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237 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
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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parents: 7
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238 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
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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239 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
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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240 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
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
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parents: 0
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241 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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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242 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
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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parents: 7
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243 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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244 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000017 Nocturia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19404716|PMID:11741097|PMID:8369103|PMID:20205139|PMID:21264941 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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245 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000751 Personality changes ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:16908734|PMID:21560061|PMID:9426865|PMID:18346925|PMID:21845593 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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246 OMIM:311510 Parkinsonism, early onset with mental retardation RO:0002200 has phenotype HP:0002362 Shuffling gait ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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247 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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248 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:8682529|PMID:7659761|PMID:15372591|PMID:18313370 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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249 OMIM:311510 Parkinsonism, early onset with mental retardation RO:0002200 has phenotype HP:0002007 Frontal bossing ECO:0000304|ECO:0000304 traceable author statement used in manual assertion|traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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250 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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parents: 7
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251 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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parents: 7
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252 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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253 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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254 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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parents: 7
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255 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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256 OMIM:311510 Parkinsonism, early onset with mental retardation RO:0002200 has phenotype HP:0002465 Poor speech ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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257 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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parents: 7
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258 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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259 OMIM:612953 Adult-onset dystonia-parkinsonism RO:0002200 has phenotype HP:0001337 Tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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260 OMIM:612953 Adult-onset dystonia-parkinsonism RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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261 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:9756144|PMID:6481422|PMID:10091630|PMID:7195483 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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262 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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263 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000722 Obsessive-compulsive behavior ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23318227|PMID:21764406|PMID:22604202|PMID:20205149|PMID:15639176 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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264 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
265 OMIM:615528 Parkinson disease 19a, juvenile-onset RO:0002200 has phenotype HP:0001250 Seizures ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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266 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002072 Chorea ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:39737|PMID:9387799|PMID:21729402|PMID:1557069|PMID:1656540 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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267 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
268 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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269 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
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
270 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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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271 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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
272 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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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273 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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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274 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
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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275 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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276 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001337 Tremor ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17516492|PMID:22976499|PMID:14558490|PMID:23047004|PMID:11949716 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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277 OMIM:311510 Parkinsonism, early onset with mental retardation RO:0002200 has phenotype HP:0001249 Intellectual disability ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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278 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
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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279 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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
280 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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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281 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
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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282 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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283 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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284 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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285 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002174 Postural tremor ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18456512|PMID:20055267|PMID:19242649|PMID:17048150|PMID:19067999 http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
286 OMIM:612953 Adult-onset dystonia-parkinsonism RO:0002200 has phenotype HP:0000751 Personality changes ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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287 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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288 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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289 OMIM:615528 Parkinson disease 19a, 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
290 OMIM:615528 Parkinson disease 19a, juvenile-onset RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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291 OMIM:311510 Parkinsonism, early onset with mental retardation RO:0002200 has phenotype HP:0100660 Dyskinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
0
850bb90bd667 planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
nathandunn
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292 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
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
293 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
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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294 OMIM:616361 PARK21 RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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295 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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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296 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
0
850bb90bd667 planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
nathandunn
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297 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
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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298 OMIM:311510 Parkinsonism, early onset with mental retardation RO:0002200 has phenotype HP:0000726 Dementia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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299 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
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5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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300 OMIM:612953 Adult-onset dystonia-parkinsonism RO:0002200 has phenotype HP:0001332 Dystonia ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct
0
850bb90bd667 planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
nathandunn
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301 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
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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302 OMIM:612953 Adult-onset dystonia-parkinsonism 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