Mercurial > repos > nathandunn > monarchinitiative
annotate test-data/phenotypes-for-disease.tsv @ 6:307ec8cd152e draft
planemo upload commit faa030eefa1a86bdf79c4ad1082fd8b5df9efd7a-dirty
author | nathandunn |
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date | Wed, 29 Jun 2016 14:17:39 -0400 |
parents | 850bb90bd667 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002019 Constipation ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12814332|PMID:21560061|PMID:23408927|PMID:22021174|PMID:19717168 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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3 OMIM:614251 Parkinson Disease 18, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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4 OMIM:614203 Parkinson Disease 17 RO:0002200 has phenotype HP:0100660 Dyskinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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5 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0002015 Dysphagia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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6 OMIM:614251 Parkinson Disease 18, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0002322 Resting tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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7 OMIM:605543 Parkinson Disease 4, Autosomal Dominant RO:0002200 has phenotype HP:0001824 Weight loss ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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8 OMIM:606324 Parkinson Disease 7, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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9 OMIM:168100 Paralysis Agitans, Juvenile, of Hunt RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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10 OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile RO:0002200 has phenotype HP:0001332 Dystonia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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11 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0002020 Gastroesophageal reflux ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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12 OMIM:614251 Parkinson Disease 18, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0100315 Lewy bodies ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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13 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000011 Neurogenic bladder ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:22331071|PMID:12922929|PMID:12756142|PMID:1965204|PMID:16855424 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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14 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001824 Weight loss ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20028343|PMID:16773618|PMID:15595933|PMID:11241387|PMID:21192784 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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15 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0000605 Supranuclear gaze palsy ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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16 OMIM:168601 autosomal dominant Parkinson disease 1 RO:0002200 has phenotype HP:0000012 Urinary urgency ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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17 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0001621 Weak voice ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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18 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0100315 Lewy bodies ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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19 OMIM:605543 Parkinson Disease 4, Autosomal Dominant RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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20 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:22204976|PMID:23803637|PMID:16093408|PMID:23803638|PMID:16720791 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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21 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001266 Choreoathetosis ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2330103|PMID:1052297|PMID:6457534|PMID:16364674|PMID:9686783 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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22 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000711 Restlessness ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20683503|PMID:21560064|PMID:2350935|PMID:12390050|PMID:23047004 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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23 OMIM:615530 Parkinson Disease 20, Early-Onset RO:0002200 has phenotype HP:0001268 Mental deterioration ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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24 OMIM:168601 autosomal dominant Parkinson disease 1 RO:0002200 has phenotype HP:0001260 Dysarthria ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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25 OMIM:607060 autosomal dominant Parkinson disease 8 RO:0002200 has phenotype HP:0002322 Resting tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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26 OMIM:615530 Parkinson Disease 20, Early-Onset RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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27 OMIM:605543 Parkinson Disease 4, Autosomal Dominant RO:0002200 has phenotype HP:0000726 Dementia ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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28 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0002322 Resting tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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29 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0003881 Humeral sclerosis ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21309754|PMID:10675426|PMID:9113500|PMID:22023479|PMID:19479510 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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30 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002076 Migraine ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:22037955|PMID:16870487|PMID:3431838|PMID:15090934|PMID:16341290 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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31 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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32 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0001337 Tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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33 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0100022 Abnormality of movement ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21696993|PMID:22245219|PMID:17516489|PMID:17013911|PMID:17013922 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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34 OMIM:615530 Parkinson Disease 20, Early-Onset RO:0002200 has phenotype HP:0000658 Eyelid apraxia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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35 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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36 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0011968 Feeding difficulties ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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37 OMIM:615530 Parkinson Disease 20, Early-Onset RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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38 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0001332 Dystonia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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39 OMIM:260540 Parkinson-Dementia Syndrome RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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40 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000975 Hyperhidrosis ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:22021174|PMID:7818245|PMID:20022689|PMID:14673882|PMID:15834763 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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41 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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42 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0000571 Hypometric saccades ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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43 OMIM:615530 Parkinson Disease 20, Early-Onset RO:0002200 has phenotype HP:0002362 Shuffling gait ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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44 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000726 Dementia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14558483|PMID:11041086|PMID:22043625|PMID:23803637|PMID:11949709 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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45 OMIM:606324 Parkinson Disease 7, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0002322 Resting tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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46 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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47 OMIM:616361 Parkinson Disease 21 RO:0002200 has phenotype HP:0100315 Lewy bodies ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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48 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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49 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002511 Alzheimer disease ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9843162|PMID:7652084|PMID:19367511|PMID:17514358|PMID:1311375 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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50 OMIM:616361 Parkinson Disease 21 RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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51 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0001260 Dysarthria ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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52 OMIM:614203 Parkinson Disease 17 RO:0002200 has phenotype HP:0002322 Resting tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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53 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002367 Visual hallucinations ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:16720791|PMID:7652084|PMID:20933338|PMID:16239760|PMID:17516497 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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54 OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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55 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0002019 Constipation ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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56 OMIM:168601 autosomal dominant Parkinson disease 1 RO:0002200 has phenotype HP:0002322 Resting tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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57 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0003470 Paralysis ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15728291|PMID:12654954|PMID:22130148|PMID:21560060|PMID:6231489 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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58 OMIM:610297 Parkinson Disease 13, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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59 OMIM:105500 Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 RO:0002200 has phenotype HP:0002366 Abnormal lower motor neuron morphology ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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60 OMIM:615530 Parkinson Disease 20, Early-Onset RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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61 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14558491|PMID:15767513|PMID:17048150|PMID:8158173|PMID:20055267 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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62 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002359 Frequent falls ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20411272|PMID:10191839|PMID:21764079|PMID:22776044|PMID:18608364 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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63 OMIM:614203 Parkinson Disease 17 RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
nathandunn
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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:21840512|PMID:2515716|PMID:3730813|PMID:21560065|PMID:9549521 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
nathandunn
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65 OMIM:607060 autosomal dominant Parkinson disease 8 RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
nathandunn
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66 OMIM:168601 autosomal dominant Parkinson disease 1 RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501|ECO:0000501 evidence used in automatic assertion|evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
nathandunn
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67 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0000716 Depression ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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68 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
nathandunn
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69 OMIM:168601 autosomal dominant Parkinson disease 1 RO:0002200 has phenotype HP:0001336 Myoclonus ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
nathandunn
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70 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0001347 Hyperreflexia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
nathandunn
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71 OMIM:607060 autosomal dominant Parkinson disease 8 RO:0002200 has phenotype HP:0011960 Substantia nigra gliosis ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
nathandunn
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72 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0001337 Tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
nathandunn
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73 OMIM:607060 autosomal dominant Parkinson disease 8 RO:0002200 has phenotype HP:0000726 Dementia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
nathandunn
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74 OMIM:605543 Parkinson Disease 4, Autosomal Dominant RO:0002200 has phenotype HP:0011999 Paranoia ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
nathandunn
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75 OMIM:105500 Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 RO:0002200 has phenotype HP:0003394 Muscle cramps ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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76 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0003236 Elevated serum creatine phosphokinase ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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77 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0007311 Short stepped shuffling gait ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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78 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0100754 Mania ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3167408|PMID:15291663|PMID:20205149|PMID:12034798|PMID:12465087 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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79 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0002304 Akinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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80 OMIM:607060 autosomal dominant Parkinson disease 8 RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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81 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002307 Drooling ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:11340798|PMID:2130649|PMID:11340797|PMID:17892967|PMID:22021174 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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82 OMIM:607688 Parkinson Disease 11, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000269 experimental evidence used in manual assertion PMID:18358451 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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83 OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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84 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0000605 Supranuclear gaze palsy ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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85 OMIM:616361 Parkinson Disease 21 RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
nathandunn
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86 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0001257 Spasticity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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87 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0002062 Morphological abnormality of the pyramidal tract ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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88 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0100660 Dyskinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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89 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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90 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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91 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0007024 Pseudobulbar paralysis ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3828155|PMID:8648326|PMID:3366147|PMID:8780066|PMID:12201229 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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92 OMIM:260540 Parkinson-Dementia Syndrome RO:0002200 has phenotype HP:0002493 Upper motor neuron dysfunction ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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93 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0001332 Dystonia ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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94 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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95 OMIM:606324 Parkinson Disease 7, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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96 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002356 Writer's cramp ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17131231|PMID:3504239|PMID:19232169|PMID:2296384|PMID:9074398 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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97 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0003006 Neuroblastoma ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20026175|PMID:8341291|PMID:10737593|PMID:12787066|PMID:18411255 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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98 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0000298 Mask-like facies ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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99 OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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100 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002018 Nausea ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17516484|PMID:21843110|PMID:19768728|PMID:2515717|PMID:6180142 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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101 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0000716 Depression ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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102 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0001347 Hyperreflexia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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103 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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104 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001336 Myoclonus ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18686651|PMID:1965204|PMID:2067442|PMID:12465085|PMID:2350935 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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105 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0000718 Aggressive behavior ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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106 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001249 Intellectual disability ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17548778|PMID:21257332|PMID:8665730|PMID:1618013|PMID:12836419 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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107 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0001347 Hyperreflexia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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108 OMIM:607060 autosomal dominant Parkinson disease 8 RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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109 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0001337 Tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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110 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001000 Abnormality of skin pigmentation ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:6499297|PMID:7715783|PMID:7771778|PMID:10737635|PMID:8731382 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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111 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0001263 Global developmental delay ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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112 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0003487 Babinski sign ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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113 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0002061 Lower limb spasticity ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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114 OMIM:260540 Parkinson-Dementia Syndrome RO:0002200 has phenotype HP:0001337 Tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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115 OMIM:168100 Paralysis Agitans, Juvenile, of Hunt RO:0002200 has phenotype HP:0001260 Dysarthria ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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116 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002529 Neuronal loss in central nervous system ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23380027|PMID:17516497|PMID:18715146|PMID:22899187|PMID:17931705 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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117 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0000738 Hallucinations ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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118 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0001257 Spasticity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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119 OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile RO:0002200 has phenotype HP:0001347 Hyperreflexia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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120 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0001260 Dysarthria ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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121 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0000012 Urinary urgency ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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122 OMIM:168601 autosomal dominant Parkinson disease 1 RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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123 OMIM:610297 Parkinson Disease 13, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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124 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0001268 Mental deterioration ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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125 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0002362 Shuffling gait ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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126 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0008936 Muscular hypotonia of the trunk ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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127 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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128 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0002019 Constipation ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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129 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0001250 Seizures ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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130 OMIM:616361 Parkinson Disease 21 RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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131 OMIM:605543 Parkinson Disease 4, Autosomal Dominant RO:0002200 has phenotype HP:0001278 Orthostatic hypotension ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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132 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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133 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0000751 Personality changes ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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134 OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile RO:0002200 has phenotype HP:0001337 Tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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135 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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136 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002331 Headache (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20464588|PMID:1807237|PMID:326325|PMID:11195537|PMID:17370756 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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137 OMIM:606324 Parkinson Disease 7, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0000643 Blepharospasm ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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138 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0002360 Sleep disturbance ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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139 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0011960 Substantia nigra gliosis ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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140 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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141 OMIM:168601 autosomal dominant Parkinson disease 1 RO:0002200 has phenotype HP:0002362 Shuffling gait ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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142 OMIM:615530 Parkinson Disease 20, Early-Onset RO:0002200 has phenotype HP:0001332 Dystonia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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143 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0001249 Intellectual disability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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144 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0001332 Dystonia ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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145 OMIM:614203 Parkinson Disease 17 RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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146 OMIM:606324 Parkinson Disease 7, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0000725 Psychotic episodes ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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147 OMIM:260540 Parkinson-Dementia Syndrome RO:0002200 has phenotype HP:0000726 Dementia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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148 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0000012 Urinary urgency ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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149 OMIM:605543 Parkinson Disease 4, Autosomal Dominant RO:0002200 has phenotype HP:0000738 Hallucinations ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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150 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002174 Postural tremor ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19067999|PMID:20055267|PMID:18456512|PMID:19242649|PMID:17048150 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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151 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0000751 Personality changes ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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152 OMIM:168100 Paralysis Agitans, Juvenile, of Hunt RO:0002200 has phenotype HP:0001288 Gait disturbance ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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153 OMIM:610297 Parkinson Disease 13, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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154 OMIM:105500 Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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155 OMIM:607060 autosomal dominant Parkinson disease 8 RO:0002200 has phenotype HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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156 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001337 Tremor ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14558490|PMID:22976499|PMID:23047004|PMID:11949716|PMID:17516492 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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157 OMIM:168100 Paralysis Agitans, Juvenile, of Hunt RO:0002200 has phenotype HP:0001939 Abnormality of metabolism/homeostasis ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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158 OMIM:607688 Parkinson Disease 11, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000269 experimental evidence used in manual assertion PMID:18358451 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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159 OMIM:168601 autosomal dominant Parkinson disease 1 RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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160 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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161 OMIM:260540 Parkinson-Dementia Syndrome RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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162 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0002194 Delayed gross motor development ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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163 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0001347 Hyperreflexia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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164 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0000726 Dementia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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165 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0100753 Schizophrenia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10447302|PMID:19396395|PMID:8789910|PMID:17027767|PMID:9171838 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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166 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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167 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002353 EEG abnormality ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1714807|PMID:16483454|PMID:2605826|PMID:1753458|PMID:7489659 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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168 OMIM:260540 Parkinson-Dementia Syndrome RO:0002200 has phenotype HP:0002751 Kyphoscoliosis ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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169 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000020 Urinary incontinence ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12814332|PMID:15895303|PMID:19135266|PMID:22331072|PMID:20429324 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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170 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0001332 Dystonia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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171 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000733 Stereotypic behavior ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21072531|PMID:563012|PMID:16934409|PMID:3670611|PMID:6138131 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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172 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0100660 Dyskinesia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17013916|PMID:7146724|PMID:22043624|PMID:17516484|PMID:21729402 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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173 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0011951 Aspiration pneumonia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21098406|PMID:12970031|PMID:12404752|PMID:20518603|PMID:20869620 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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174 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0004409 Hyposmia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17508142|PMID:22035024|PMID:18322371|PMID:21560061|PMID:21387694 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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175 OMIM:615530 Parkinson Disease 20, Early-Onset RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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176 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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177 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002167 Neurological speech impairment ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19864662|PMID:8162135|PMID:15767513|PMID:22772465|PMID:22706836 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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178 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0002283 Global brain atrophy ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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179 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0002072 Chorea ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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180 OMIM:168100 Paralysis Agitans, Juvenile, of Hunt RO:0002200 has phenotype HP:0000298 Mask-like facies ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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181 OMIM:615530 Parkinson Disease 20, Early-Onset RO:0002200 has phenotype HP:0001260 Dysarthria ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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182 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002615 Hypotension ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7296422|PMID:6441537|PMID:1300258|PMID:6180142|PMID:1300256 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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183 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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184 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20055267|PMID:12948464|PMID:3747258|PMID:17048150|PMID:22130147 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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185 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0002071 Abnormality of extrapyramidal motor function ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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186 OMIM:615530 Parkinson Disease 20, Early-Onset RO:0002200 has phenotype HP:0000605 Supranuclear gaze palsy ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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187 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0000726 Dementia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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188 OMIM:168601 autosomal dominant Parkinson disease 1 RO:0002200 has phenotype HP:0002360 Sleep disturbance ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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189 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0100315 Lewy bodies ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:22043625|PMID:22245218|PMID:20055267|PMID:16093408|PMID:17516497 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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190 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0000738 Hallucinations ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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191 OMIM:607688 Parkinson Disease 11, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000269 experimental evidence used in manual assertion PMID:18358451 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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192 OMIM:105500 Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 RO:0002200 has phenotype HP:0000726 Dementia ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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193 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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194 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001278 Orthostatic hypotension ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21560061|PMID:16906622|PMID:12654979|PMID:12814332|PMID:5386267 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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195 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0000725 Psychotic episodes ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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196 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0000514 Slow saccadic eye movements ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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197 OMIM:168601 autosomal dominant Parkinson disease 1 RO:0002200 has phenotype HP:0001332 Dystonia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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198 OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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199 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002322 Resting tremor ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20055267|PMID:9426865|PMID:19176228|PMID:19858460|PMID:17048150 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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200 OMIM:610297 Parkinson Disease 13, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0001337 Tremor ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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201 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0001260 Dysarthria ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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202 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0000718 Aggressive behavior ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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203 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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204 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0002312 Clumsiness ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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205 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0004409 Hyposmia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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206 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0000458 Anosmia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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207 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0100543 Cognitive impairment ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18178571|PMID:17516457|PMID:9387801|PMID:18682443|PMID:20832408 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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208 OMIM:168601 autosomal dominant Parkinson disease 1 RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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209 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000738 Hallucinations ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:22043626|PMID:19507125|PMID:12814332|PMID:19680598|PMID:17548778 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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210 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0001260 Dysarthria ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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211 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0001336 Myoclonus ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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212 OMIM:168100 Paralysis Agitans, Juvenile, of Hunt RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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213 OMIM:607060 autosomal dominant Parkinson disease 8 RO:0002200 has phenotype HP:0004409 Hyposmia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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214 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0003487 Babinski sign ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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215 OMIM:606324 Parkinson Disease 7, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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216 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0006892 Frontotemporal cerebral atrophy ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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217 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0002936 Distal sensory impairment ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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218 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0000473 Torticollis ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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219 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0001762 Talipes equinovarus ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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220 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0002425 Anarthria ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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221 OMIM:614203 Parkinson Disease 17 RO:0002200 has phenotype HP:0002304 Akinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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222 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0001257 Spasticity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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223 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0000726 Dementia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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224 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0000298 Mask-like facies ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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225 OMIM:105500 Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 RO:0002200 has phenotype HP:0001324 Muscle weakness ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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226 OMIM:605543 Parkinson Disease 4, Autosomal Dominant RO:0002200 has phenotype HP:0002459 Dysautonomia ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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227 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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228 OMIM:260540 Parkinson-Dementia Syndrome RO:0002200 has phenotype HP:0002062 Morphological abnormality of the pyramidal tract ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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229 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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230 OMIM:614251 Parkinson Disease 18, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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231 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0002529 Neuronal loss in central nervous system ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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232 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0100595 Camptocormia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17027115|PMID:19864661|PMID:21389682|PMID:12671947|PMID:23994926 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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233 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0001250 Seizures ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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234 OMIM:168100 Paralysis Agitans, Juvenile, of Hunt RO:0002200 has phenotype HP:0001337 Tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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235 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0002493 Upper motor neuron dysfunction ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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236 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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237 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0001332 Dystonia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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238 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0002322 Resting tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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239 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0002459 Dysautonomia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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240 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0002493 Upper motor neuron dysfunction ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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241 OMIM:168601 autosomal dominant Parkinson disease 1 RO:0002200 has phenotype HP:0001268 Mental deterioration ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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242 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000722 Obsessive-compulsive behavior ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20205149|PMID:15639176|PMID:21764406|PMID:22604202|PMID:23318227 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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243 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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244 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002180 Neurodegeneration ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20865164|PMID:23040108|PMID:23019375|PMID:17255333|PMID:16720791 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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245 OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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246 OMIM:168600 Parkinson Disease, Late-Onset RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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247 OMIM:616361 Parkinson Disease 21 RO:0002200 has phenotype HP:0001337 Tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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248 OMIM:168601 autosomal dominant Parkinson disease 1 RO:0002200 has phenotype HP:0002015 Dysphagia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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249 OMIM:607688 Parkinson Disease 11, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000269 experimental evidence used in manual assertion PMID:18358451 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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250 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0002385 Paraparesis ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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251 OMIM:260300 autosomal recessive early-onset Parkinson disease 15 RO:0002200 has phenotype HP:0012407 Scissor gait ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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252 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001324 Muscle weakness ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8682529|PMID:17931671|PMID:15372591|PMID:18313370|PMID:7659761 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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253 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002017 Nausea and vomiting ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15495119|PMID:7195483|PMID:10091630|PMID:6481422|PMID:9756144 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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254 OMIM:260540 Parkinson-Dementia Syndrome RO:0002200 has phenotype HP:0000597 Ophthalmoparesis ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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255 OMIM:612953 Parkinson Disease 14, Autosomal Recessive RO:0002200 has phenotype HP:0001337 Tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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256 OMIM:606324 Parkinson Disease 7, Autosomal Recessive Early-Onset RO:0002200 has phenotype HP:0002174 Postural tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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257 OMIM:615530 Parkinson Disease 20, Early-Onset RO:0002200 has phenotype HP:0001337 Tremor ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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258 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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259 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000017 Nocturia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:11741097|PMID:8369103|PMID:19404716|PMID:20205139|PMID:21264941 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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260 OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile RO:0002200 has phenotype HP:0011960 Substantia nigra gliosis ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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261 OMIM:105500 Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 RO:0002200 has phenotype HP:0007354 Amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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262 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002072 Chorea ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1656540|PMID:1557069|PMID:21729402|PMID:9387799|PMID:39737 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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263 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0010524 Agnosia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2932922|PMID:12796834|PMID:15782604|PMID:9686278|PMID:3263977 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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264 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000709 Psychosis ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21630354|PMID:12814332|PMID:17013906|PMID:10727476|PMID:22245219 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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265 OMIM:613135 Parkinsonism-Dystonia, Infantile RO:0002200 has phenotype HP:0002451 Limb dystonia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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266 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:22402215|PMID:11949716|PMID:9513304|PMID:20055267|PMID:17048150 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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267 OMIM:168100 Paralysis Agitans, Juvenile, of Hunt RO:0002200 has phenotype HP:0002063 Rigidity ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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268 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0001332 Dystonia ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2515718|PMID:6231489|PMID:22976499|PMID:2579626|PMID:7715793 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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269 OMIM:614251 Parkinson Disease 18, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0002067 Bradykinesia ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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270 OMIM:606693 Kufor-Rakeb syndrome RO:0002200 has phenotype HP:0000514 Slow saccadic eye movements ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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271 OMIM:614203 Parkinson Disease 17 RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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272 OMIM:614203 Parkinson Disease 17 RO:0002200 has phenotype HP:0001300 Parkinsonism ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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273 OMIM:615528 Parkinson Disease 19, Juvenile-Onset RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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274 OMIM:105500 Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 RO:0002200 has phenotype HP:0001283 Bulbar palsy ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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275 OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile RO:0002200 has phenotype HP:0001288 Gait disturbance ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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276 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000751 Personality changes ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21560061|PMID:16908734|PMID:21845593|PMID:9426865|PMID:18346925 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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277 OMIM:616361 Parkinson Disease 21 RO:0002200 has phenotype HP:0002172 Postural instability ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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278 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0002321 Vertigo ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19479494|PMID:21843110|PMID:19768728|PMID:2515717|PMID:12814332 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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279 OMIM:607688 Parkinson Disease 11, Autosomal Dominant, Susceptibility to RO:0002200 has phenotype HP:0002322 Resting tremor ECO:0000269 experimental evidence used in manual assertion PMID:18358451 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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280 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000746 Delusions ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12814332|PMID:16239760|PMID:7652084|PMID:19507125|PMID:20538500 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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281 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000822 Hypertension ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18166127|PMID:20032288|PMID:11041086|PMID:17761552|PMID:17514358 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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282 OMIM:605543 Parkinson Disease 4, Autosomal Dominant RO:0002200 has phenotype HP:0100315 Lewy bodies ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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283 DOID:14330 Parkinson's disease RO:0002200 has phenotype HP:0000012 Urinary urgency ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3942028|PMID:14521485|PMID:18327532|PMID:19908315|PMID:11570707 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |