Mercurial > repos > nathandunn > biolinkplanteome
annotate test-data/parkinson-search-term.json @ 0:028a3ffc17b4 draft
planemo upload commit b095175f34e78ceded24a6e1da99b328f50db86d
author | nathandunn |
---|---|
date | Fri, 23 Jun 2017 15:04:12 -0400 |
parents | |
children |
rev | line source |
---|---|
0
028a3ffc17b4
planemo upload commit b095175f34e78ceded24a6e1da99b328f50db86d
nathandunn
parents:
diff
changeset
|
1 {"facet_counts": {"category": {"gene": 46, "Phenotype": 6, "disease": 85}, "taxon_label": {"Mus musculus": 3, "Ornithorhynchus anatinus": 2, "Danio rerio": 3, "Gallus gallus": 3, "Schizosaccharomyces pombe": 0, "Equus caballus": 2, "Sus scrofa": 3, "Caenorhabditis elegans": 0, "Macaca mulatta": 1, "Homo sapiens": 4, "Arabidopsis thaliana": 0, "Rattus norvegicus": 4, "Monodelphis domestica": 3, "Canis lupus familiaris": 4, "Saccharomyces cerevisiae": 0, "Drosophila melanogaster": 0, "Takifugu rubripes": 1, "Pan troglodytes": 3, "Bos taurus": 3, "Xenopus tropicalis": 2, "Dictyostelium discoideum": 0, "Felis catus": 2, "Anolis carolinensis": 3}}, "docs": [{"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C0751415", "http://purl.obolibrary.org/obo/UMLS_C0751414", "http://purl.obolibrary.org/obo/MESH_D010302", "http://purl.obolibrary.org/obo/UMLS_C0030569"], "synonym_eng": ["Symptomatic Parkinsonism", "Parkinsonism, Atherosclerotic", "secondary parkinsonism, unspecified", "secondary Parkinsonism", "Parkinson Disease, Symptomatic", "Parkinson Disease, Secondary Vascular", "Secondary Vascular Parkinson Disease", "disorder presenting primarily with parkinsonism", "secondary parkinsonism (disorder)", "Symptomatic Parkinson Disease", "Parkinsonism, Symptomatic", "Symptomatic parkinsonism (disorder)", "Secondary Parkinsonism", "Atherosclerotic Parkinsonism", "secondary parkinsonism (disorder) [Ambiguous]", "Secondary Parkinson Disease", "secondary parkinsonism, unspecified (disorder)", "Parkinsonism, Secondary"], "synonym_kw": ["Symptomatic Parkinsonism", "Parkinsonism, Atherosclerotic", "secondary parkinsonism, unspecified", "secondary Parkinsonism", "Parkinson Disease, Symptomatic", "Parkinson Disease, Secondary Vascular", "Secondary Vascular Parkinson Disease", "disorder presenting primarily with parkinsonism", "secondary parkinsonism (disorder)", "Symptomatic Parkinson Disease", "Parkinsonism, Symptomatic", "Symptomatic parkinsonism (disorder)", "Secondary Parkinsonism", "Atherosclerotic Parkinsonism", "secondary parkinsonism (disorder) [Ambiguous]", "Secondary Parkinson Disease", "secondary parkinsonism, unspecified (disorder)", "Parkinsonism, Secondary"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C0751415", "http://purl.obolibrary.org/obo/UMLS_C0751414", "http://purl.obolibrary.org/obo/MESH_D010302", "http://purl.obolibrary.org/obo/UMLS_C0030569"], "iri": "http://purl.obolibrary.org/obo/DOID_13548", "_version_": 1564147993097011201, "label_eng": ["secondary Parkinson disease"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C0751415", "http://purl.obolibrary.org/obo/UMLS_C0751414", "http://purl.obolibrary.org/obo/MESH_D010302", "http://purl.obolibrary.org/obo/UMLS_C0030569"], "iri_kw": "http://purl.obolibrary.org/obo/DOID_13548", "iri_eng": "http://purl.obolibrary.org/obo/DOID_13548", "category_kw": ["disease"], "definition_std": ["Conditions which feature clinical manifestations resembling primary Parkinson disease that are caused by a known or suspected condition. Examples include parkinsonism caused by vascular injury, drugs, trauma, toxin exposure, neoplasms, infections and degenerative or hereditary conditions. Clinical features may include bradykinesia, rigidity, parkinsonian gait, and masked facies. In general, tremor is less prominent in secondary parkinsonism than in the primary form. (From Joynt, Clinical Neurology, 1998, Ch38, pp39-42)"], "id_eng": "DOID:13548", "definition_kw": ["Conditions which feature clinical manifestations resembling primary Parkinson disease that are caused by a known or suspected condition. Examples include parkinsonism caused by vascular injury, drugs, trauma, toxin exposure, neoplasms, infections and degenerative or hereditary conditions. Clinical features may include bradykinesia, rigidity, parkinsonian gait, and masked facies. In general, tremor is less prominent in secondary parkinsonism than in the primary form. (From Joynt, Clinical Neurology, 1998, Ch38, pp39-42)"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C0751415", "UMLS:C0751414", "MESH:D010302", "UMLS:C0030569"], "label_kw": ["secondary Parkinson disease"], "synonym": ["Symptomatic Parkinsonism", "Parkinsonism, Atherosclerotic", "secondary parkinsonism, unspecified", "secondary Parkinsonism", "Parkinson Disease, Symptomatic", "Parkinson Disease, Secondary Vascular", "Secondary Vascular Parkinson Disease", "disorder presenting primarily with parkinsonism", "secondary parkinsonism (disorder)", "Symptomatic Parkinson Disease", "Parkinsonism, Symptomatic", "Symptomatic parkinsonism (disorder)", "Secondary Parkinsonism", "Atherosclerotic Parkinsonism", "secondary parkinsonism (disorder) [Ambiguous]", "Secondary Parkinson Disease", "secondary parkinsonism, unspecified (disorder)", "Parkinsonism, Secondary"], "score": 34.117615, "id_std": "DOID:13548", "equivalent_curie_std": ["UMLS:C0751415", "UMLS:C0751414", "MESH:D010302", "UMLS:C0030569"], "id": "DOID:13548", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C0751415", "http://purl.obolibrary.org/obo/UMLS_C0751414", "http://purl.obolibrary.org/obo/MESH_D010302", "http://purl.obolibrary.org/obo/UMLS_C0030569"], "iri_std": "http://purl.obolibrary.org/obo/DOID_13548", "id_kw": "DOID:13548", "leaf": false, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["Conditions which feature clinical manifestations resembling primary Parkinson disease that are caused by a known or suspected condition. Examples include parkinsonism caused by vascular injury, drugs, trauma, toxin exposure, neoplasms, infections and degenerative or hereditary conditions. Clinical features may include bradykinesia, rigidity, parkinsonian gait, and masked facies. In general, tremor is less prominent in secondary parkinsonism than in the primary form. (From Joynt, Clinical Neurology, 1998, Ch38, pp39-42)"], "equivalent_curie_eng": ["UMLS:C0751415", "UMLS:C0751414", "MESH:D010302", "UMLS:C0030569"], "label": ["secondary Parkinson disease"], "label_std": ["secondary Parkinson disease"], "definition": ["Conditions which feature clinical manifestations resembling primary Parkinson disease that are caused by a known or suspected condition. Examples include parkinsonism caused by vascular injury, drugs, trauma, toxin exposure, neoplasms, infections and degenerative or hereditary conditions. Clinical features may include bradykinesia, rigidity, parkinsonian gait, and masked facies. In general, tremor is less prominent in secondary parkinsonism than in the primary form. (From Joynt, Clinical Neurology, 1998, Ch38, pp39-42)"], "synonym_std": ["Symptomatic Parkinsonism", "Parkinsonism, Atherosclerotic", "secondary parkinsonism, unspecified", "secondary Parkinsonism", "Parkinson Disease, Symptomatic", "Parkinson Disease, Secondary Vascular", "Secondary Vascular Parkinson Disease", "disorder presenting primarily with parkinsonism", "secondary parkinsonism (disorder)", "Symptomatic Parkinson Disease", "Parkinsonism, Symptomatic", "Symptomatic parkinsonism (disorder)", "Secondary Parkinsonism", "Atherosclerotic Parkinsonism", "secondary parkinsonism (disorder) [Ambiguous]", "Secondary Parkinson Disease", "secondary parkinsonism, unspecified (disorder)", "Parkinsonism, Secondary"], "equivalent_curie": ["UMLS:C0751415", "UMLS:C0751414", "MESH:D010302", "UMLS:C0030569"]}, {"equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_97349", "http://purl.obolibrary.org/obo/UMLS_C0030568", "http://purl.obolibrary.org/obo/UMLS_CN206905", "http://purl.obolibrary.org/obo/MESH_D010301"], "synonym_eng": ["Parkinson Disease, Post Encephalitic", "Postencephalitic Economo-Type Parkinsonism", "Parkinson Disease, Post-Encephalitic", "Parkinsonisms, Viral Meningoencephalitic", "Parkinsonism, Postencephalitic Economo-Type", "Economo-Type Parkinsonism, Postencephalitic", "Postencephalitic Parkinson Disease", "von Economo Encephalitis Type Parkinsonism", "Parkinsonism, Viral Meningoencephalitic", "Postencephalitic Parkinsonism", "Post-Encephalitic Parkinson Disease", "Post Encephalitic Parkinson Disease", "Meningoencephalitic Parkinsonism, Viral", "Postencephalitic Economo Type Parkinsonism", "Postencephalitic parkinsonism", "Postencephalitic parkinsonism (disorder)", "Postencephalitis Parkinsonian Syndrome", "Parkinsonism, Postencephalitic", "Parkinsonian Syndrome, Postencephalitis", "Viral Meningoencephalitic Parkinsonism", "Encephalitis Lethargica Type Parkinsonism"], "synonym_kw": ["Parkinson Disease, Post Encephalitic", "Postencephalitic Economo-Type Parkinsonism", "Parkinson Disease, Post-Encephalitic", "Parkinsonisms, Viral Meningoencephalitic", "Parkinsonism, Postencephalitic Economo-Type", "Economo-Type Parkinsonism, Postencephalitic", "Postencephalitic Parkinson Disease", "von Economo Encephalitis Type Parkinsonism", "Parkinsonism, Viral Meningoencephalitic", "Postencephalitic Parkinsonism", "Post-Encephalitic Parkinson Disease", "Post Encephalitic Parkinson Disease", "Meningoencephalitic Parkinsonism, Viral", "Postencephalitic Economo Type Parkinsonism", "Postencephalitic parkinsonism", "Postencephalitic parkinsonism (disorder)", "Postencephalitis Parkinsonian Syndrome", "Parkinsonism, Postencephalitic", "Parkinsonian Syndrome, Postencephalitis", "Viral Meningoencephalitic Parkinsonism", "Encephalitis Lethargica Type Parkinsonism"], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_97349", "http://purl.obolibrary.org/obo/UMLS_C0030568", "http://purl.obolibrary.org/obo/UMLS_CN206905", "http://purl.obolibrary.org/obo/MESH_D010301"], "iri": "http://purl.obolibrary.org/obo/DOID_14332", "_version_": 1564147993685262336, "label_eng": ["postencephalitic Parkinson disease"], "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_97349", "http://purl.obolibrary.org/obo/UMLS_C0030568", "http://purl.obolibrary.org/obo/UMLS_CN206905", "http://purl.obolibrary.org/obo/MESH_D010301"], "iri_kw": "http://purl.obolibrary.org/obo/DOID_14332", "iri_eng": "http://purl.obolibrary.org/obo/DOID_14332", "category_kw": ["disease"], "definition_std": ["Parkinsonism following encephalitis, historically seen as a sequella of encephalitis lethargica (Von Economo Encephalitis). The early age of onset, the rapid progression of symptoms followed by stabilization, and the presence of a variety of other neurological disorders (e.g., sociopathic behavior; TICS; MUSCLE SPASMS; oculogyric crises; hyperphagia; and bizarre movements) distinguish this condition from primary PARKINSON DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the MESENCEPHALON; SUBTHALAMUS; and HYPOTHALAMUS. (From Adams et al., Principles of Neurology, 6th ed, p754)"], "id_eng": "DOID:14332", "definition_kw": ["Parkinsonism following encephalitis, historically seen as a sequella of encephalitis lethargica (Von Economo Encephalitis). The early age of onset, the rapid progression of symptoms followed by stabilization, and the presence of a variety of other neurological disorders (e.g., sociopathic behavior; TICS; MUSCLE SPASMS; oculogyric crises; hyperphagia; and bizarre movements) distinguish this condition from primary PARKINSON DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the MESENCEPHALON; SUBTHALAMUS; and HYPOTHALAMUS. (From Adams et al., Principles of Neurology, 6th ed, p754)"], "category_eng": ["disease"], "equivalent_curie_kw": ["Orphanet:97349", "UMLS:C0030568", "UMLS:CN206905", "MESH:D010301"], "label_kw": ["postencephalitic Parkinson disease"], "synonym": ["Parkinson Disease, Post Encephalitic", "Postencephalitic Economo-Type Parkinsonism", "Parkinson Disease, Post-Encephalitic", "Parkinsonisms, Viral Meningoencephalitic", "Parkinsonism, Postencephalitic Economo-Type", "Economo-Type Parkinsonism, Postencephalitic", "Postencephalitic Parkinson Disease", "von Economo Encephalitis Type Parkinsonism", "Parkinsonism, Viral Meningoencephalitic", "Postencephalitic Parkinsonism", "Post-Encephalitic Parkinson Disease", "Post Encephalitic Parkinson Disease", "Meningoencephalitic Parkinsonism, Viral", "Postencephalitic Economo Type Parkinsonism", "Postencephalitic parkinsonism", "Postencephalitic parkinsonism (disorder)", "Postencephalitis Parkinsonian Syndrome", "Parkinsonism, Postencephalitic", "Parkinsonian Syndrome, Postencephalitis", "Viral Meningoencephalitic Parkinsonism", "Encephalitis Lethargica Type Parkinsonism"], "score": 33.921215, "id_std": "DOID:14332", "equivalent_curie_std": ["Orphanet:97349", "UMLS:C0030568", "UMLS:CN206905", "MESH:D010301"], "id": "DOID:14332", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_97349", "http://purl.obolibrary.org/obo/UMLS_C0030568", "http://purl.obolibrary.org/obo/UMLS_CN206905", "http://purl.obolibrary.org/obo/MESH_D010301"], "iri_std": "http://purl.obolibrary.org/obo/DOID_14332", "id_kw": "DOID:14332", "leaf": true, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["Parkinsonism following encephalitis, historically seen as a sequella of encephalitis lethargica (Von Economo Encephalitis). The early age of onset, the rapid progression of symptoms followed by stabilization, and the presence of a variety of other neurological disorders (e.g., sociopathic behavior; TICS; MUSCLE SPASMS; oculogyric crises; hyperphagia; and bizarre movements) distinguish this condition from primary PARKINSON DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the MESENCEPHALON; SUBTHALAMUS; and HYPOTHALAMUS. (From Adams et al., Principles of Neurology, 6th ed, p754)"], "equivalent_curie_eng": ["Orphanet:97349", "UMLS:C0030568", "UMLS:CN206905", "MESH:D010301"], "label": ["postencephalitic Parkinson disease"], "label_std": ["postencephalitic Parkinson disease"], "definition": ["Parkinsonism following encephalitis, historically seen as a sequella of encephalitis lethargica (Von Economo Encephalitis). The early age of onset, the rapid progression of symptoms followed by stabilization, and the presence of a variety of other neurological disorders (e.g., sociopathic behavior; TICS; MUSCLE SPASMS; oculogyric crises; hyperphagia; and bizarre movements) distinguish this condition from primary PARKINSON DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the MESENCEPHALON; SUBTHALAMUS; and HYPOTHALAMUS. (From Adams et al., Principles of Neurology, 6th ed, p754)"], "synonym_std": ["Parkinson Disease, Post Encephalitic", "Postencephalitic Economo-Type Parkinsonism", "Parkinson Disease, Post-Encephalitic", "Parkinsonisms, Viral Meningoencephalitic", "Parkinsonism, Postencephalitic Economo-Type", "Economo-Type Parkinsonism, Postencephalitic", "Postencephalitic Parkinson Disease", "von Economo Encephalitis Type Parkinsonism", "Parkinsonism, Viral Meningoencephalitic", "Postencephalitic Parkinsonism", "Post-Encephalitic Parkinson Disease", "Post Encephalitic Parkinson Disease", "Meningoencephalitic Parkinsonism, Viral", "Postencephalitic Economo Type Parkinsonism", "Postencephalitic parkinsonism", "Postencephalitic parkinsonism (disorder)", "Postencephalitis Parkinsonian Syndrome", "Parkinsonism, Postencephalitic", "Parkinsonian Syndrome, Postencephalitis", "Viral Meningoencephalitic Parkinsonism", "Encephalitis Lethargica Type Parkinsonism"], "equivalent_curie": ["Orphanet:97349", "UMLS:C0030568", "UMLS:CN206905", "MESH:D010301"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_CN227567", "http://purl.obolibrary.org/obo/UMLS_C0242422"], "synonym_eng": ["Juvenile Parkinson Disease, Autosomal Recessive", "Autosomal Recesssive Juvenile Parkinsonism", "Juvenile Parkinson Disease", "Parkinson Disease, Familial, Autosomal Recessive", "Parkinsonism, Autosomal Recessive", "Parkinsonism, Early Onset, with Diurnal Fluctuation", "Parkinson Disease, Juvenile", "Parkinsonism, Juvenile, Autosomal Recessive", "Experimental Parkinsonism, MPTP Induced", "Parkinson Disease 2", "Experimental Parkinson Diseases", "Chromosome 6 Linked Autosomal Recessive Parkinsonism", "Parkinsonian Diseases", "Juvenile Parkinson Disease, Autosomal Dominant", "Autosomal Dominant Parkinsonism", "Parkinson Disease, Experimental", "Diseases, Experimental Parkinson", "Juvenile Parkinsonism, Familial", "Parkinsonism, Juvenile, Autosomal Dominant", "Parkinson Disease, Autosomal Dominant. Juvenile", "Parkinsonian Syndromes", "Parkinson Diseases, Experimental", "Autosomal Recessive Parkinsonism", "Juvenile Parkinsonism, Autosomal Recessive", "Parkinson Disease, Juvenile, Autosomal Dominant", "Parkinsonism, Early-Onset, With Diurnal Fluctuation", "Parkinson Disease 2, Autosomal Recessive Juvenile", "Parkinsonisms, Experimental", "Parkinson Disease Autosomal Recessive, Early Onset", "Parkinsonism, Juvenile", "Autosomal Dominant Juvenile Parkinsonism", "Familial Juvenile Parkinsonism", "Juvenile Parkinsonisms", "Dominant Parkinsonism, Autosomal", "Parkinson Disease, Juvenile, Autosomal Recessive", "Parkinsonism, MPTP-Induced Experimental", "Chromosome 6-Linked Autosomal Recessive Parkinsonism", "Juvenile Parkinsonism, Autosomal Dominant", "Parkinsonism, Familial Juvenile", "MPTP Induced Experimental Parkinsonism", "Parkinsonism, Autosomal Dominant", "Familial Parkinson Disease, Autosomal Recessive", "Parkinsonism, Experimental", "Ramsay Hunt Paralysis Syndrome", "Experimental Parkinsonism, MPTP-Induced", "Experimental Parkinson Disease", "Parkinsonian Syndrome", "Recessive Parkinsonism, Autosomal", "Juvenile Parkinsonism", "Experimental Parkinsonism", "Autosomal Dominant Juvenile Parkinson Disease", "Parkinsonism", "Parkinsonisms, Juvenile", "Experimental Parkinsonisms", "MPTP-Induced Experimental Parkinsonism", "Autosomal Recessive Juvenile Parkinson Disease"], "synonym_kw": ["Juvenile Parkinson Disease, Autosomal Recessive", "Autosomal Recesssive Juvenile Parkinsonism", "Juvenile Parkinson Disease", "Parkinson Disease, Familial, Autosomal Recessive", "Parkinsonism, Autosomal Recessive", "Parkinsonism, Early Onset, with Diurnal Fluctuation", "Parkinson Disease, Juvenile", "Parkinsonism, Juvenile, Autosomal Recessive", "Experimental Parkinsonism, MPTP Induced", "Parkinson Disease 2", "Experimental Parkinson Diseases", "Chromosome 6 Linked Autosomal Recessive Parkinsonism", "Parkinsonian Diseases", "Juvenile Parkinson Disease, Autosomal Dominant", "Autosomal Dominant Parkinsonism", "Parkinson Disease, Experimental", "Diseases, Experimental Parkinson", "Juvenile Parkinsonism, Familial", "Parkinsonism, Juvenile, Autosomal Dominant", "Parkinson Disease, Autosomal Dominant. Juvenile", "Parkinsonian Syndromes", "Parkinson Diseases, Experimental", "Autosomal Recessive Parkinsonism", "Juvenile Parkinsonism, Autosomal Recessive", "Parkinson Disease, Juvenile, Autosomal Dominant", "Parkinsonism, Early-Onset, With Diurnal Fluctuation", "Parkinson Disease 2, Autosomal Recessive Juvenile", "Parkinsonisms, Experimental", "Parkinson Disease Autosomal Recessive, Early Onset", "Parkinsonism, Juvenile", "Autosomal Dominant Juvenile Parkinsonism", "Familial Juvenile Parkinsonism", "Juvenile Parkinsonisms", "Dominant Parkinsonism, Autosomal", "Parkinson Disease, Juvenile, Autosomal Recessive", "Parkinsonism, MPTP-Induced Experimental", "Chromosome 6-Linked Autosomal Recessive Parkinsonism", "Juvenile Parkinsonism, Autosomal Dominant", "Parkinsonism, Familial Juvenile", "MPTP Induced Experimental Parkinsonism", "Parkinsonism, Autosomal Dominant", "Familial Parkinson Disease, Autosomal Recessive", "Parkinsonism, Experimental", "Ramsay Hunt Paralysis Syndrome", "Experimental Parkinsonism, MPTP-Induced", "Experimental Parkinson Disease", "Parkinsonian Syndrome", "Recessive Parkinsonism, Autosomal", "Juvenile Parkinsonism", "Experimental Parkinsonism", "Autosomal Dominant Juvenile Parkinson Disease", "Parkinsonism", "Parkinsonisms, Juvenile", "Experimental Parkinsonisms", "MPTP-Induced Experimental Parkinsonism", "Autosomal Recessive Juvenile Parkinson Disease"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_CN227567", "http://purl.obolibrary.org/obo/UMLS_C0242422"], "iri": "http://purl.obolibrary.org/obo/MESH_D020734", "_version_": 1564148004608278528, "label_eng": ["Parkinsonian Disorders"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_CN227567", "http://purl.obolibrary.org/obo/UMLS_C0242422"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_D020734", "iri_eng": "http://purl.obolibrary.org/obo/MESH_D020734", "category_kw": ["disease"], "definition_std": ["A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA."], "id_eng": "MESH:D020734", "definition_kw": ["A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA."], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:CN227567", "UMLS:C0242422"], "label_kw": ["Parkinsonian Disorders"], "synonym": ["Juvenile Parkinson Disease, Autosomal Recessive", "Autosomal Recesssive Juvenile Parkinsonism", "Juvenile Parkinson Disease", "Parkinson Disease, Familial, Autosomal Recessive", "Parkinsonism, Autosomal Recessive", "Parkinsonism, Early Onset, with Diurnal Fluctuation", "Parkinson Disease, Juvenile", "Parkinsonism, Juvenile, Autosomal Recessive", "Experimental Parkinsonism, MPTP Induced", "Parkinson Disease 2", "Experimental Parkinson Diseases", "Chromosome 6 Linked Autosomal Recessive Parkinsonism", "Parkinsonian Diseases", "Juvenile Parkinson Disease, Autosomal Dominant", "Autosomal Dominant Parkinsonism", "Parkinson Disease, Experimental", "Diseases, Experimental Parkinson", "Juvenile Parkinsonism, Familial", "Parkinsonism, Juvenile, Autosomal Dominant", "Parkinson Disease, Autosomal Dominant. Juvenile", "Parkinsonian Syndromes", "Parkinson Diseases, Experimental", "Autosomal Recessive Parkinsonism", "Juvenile Parkinsonism, Autosomal Recessive", "Parkinson Disease, Juvenile, Autosomal Dominant", "Parkinsonism, Early-Onset, With Diurnal Fluctuation", "Parkinson Disease 2, Autosomal Recessive Juvenile", "Parkinsonisms, Experimental", "Parkinson Disease Autosomal Recessive, Early Onset", "Parkinsonism, Juvenile", "Autosomal Dominant Juvenile Parkinsonism", "Familial Juvenile Parkinsonism", "Juvenile Parkinsonisms", "Dominant Parkinsonism, Autosomal", "Parkinson Disease, Juvenile, Autosomal Recessive", "Parkinsonism, MPTP-Induced Experimental", "Chromosome 6-Linked Autosomal Recessive Parkinsonism", "Juvenile Parkinsonism, Autosomal Dominant", "Parkinsonism, Familial Juvenile", "MPTP Induced Experimental Parkinsonism", "Parkinsonism, Autosomal Dominant", "Familial Parkinson Disease, Autosomal Recessive", "Parkinsonism, Experimental", "Ramsay Hunt Paralysis Syndrome", "Experimental Parkinsonism, MPTP-Induced", "Experimental Parkinson Disease", "Parkinsonian Syndrome", "Recessive Parkinsonism, Autosomal", "Juvenile Parkinsonism", "Experimental Parkinsonism", "Autosomal Dominant Juvenile Parkinson Disease", "Parkinsonism", "Parkinsonisms, Juvenile", "Experimental Parkinsonisms", "MPTP-Induced Experimental Parkinsonism", "Autosomal Recessive Juvenile Parkinson Disease"], "score": 33.76875, "id_std": "MESH:D020734", "equivalent_curie_std": ["UMLS:CN227567", "UMLS:C0242422"], "id": "MESH:D020734", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_CN227567", "http://purl.obolibrary.org/obo/UMLS_C0242422"], "iri_std": "http://purl.obolibrary.org/obo/MESH_D020734", "id_kw": "MESH:D020734", "leaf": false, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA."], "equivalent_curie_eng": ["UMLS:CN227567", "UMLS:C0242422"], "label": ["Parkinsonian Disorders"], "label_std": ["Parkinsonian Disorders"], "definition": ["A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA."], "synonym_std": ["Juvenile Parkinson Disease, Autosomal Recessive", "Autosomal Recesssive Juvenile Parkinsonism", "Juvenile Parkinson Disease", "Parkinson Disease, Familial, Autosomal Recessive", "Parkinsonism, Autosomal Recessive", "Parkinsonism, Early Onset, with Diurnal Fluctuation", "Parkinson Disease, Juvenile", "Parkinsonism, Juvenile, Autosomal Recessive", "Experimental Parkinsonism, MPTP Induced", "Parkinson Disease 2", "Experimental Parkinson Diseases", "Chromosome 6 Linked Autosomal Recessive Parkinsonism", "Parkinsonian Diseases", "Juvenile Parkinson Disease, Autosomal Dominant", "Autosomal Dominant Parkinsonism", "Parkinson Disease, Experimental", "Diseases, Experimental Parkinson", "Juvenile Parkinsonism, Familial", "Parkinsonism, Juvenile, Autosomal Dominant", "Parkinson Disease, Autosomal Dominant. Juvenile", "Parkinsonian Syndromes", "Parkinson Diseases, Experimental", "Autosomal Recessive Parkinsonism", "Juvenile Parkinsonism, Autosomal Recessive", "Parkinson Disease, Juvenile, Autosomal Dominant", "Parkinsonism, Early-Onset, With Diurnal Fluctuation", "Parkinson Disease 2, Autosomal Recessive Juvenile", "Parkinsonisms, Experimental", "Parkinson Disease Autosomal Recessive, Early Onset", "Parkinsonism, Juvenile", "Autosomal Dominant Juvenile Parkinsonism", "Familial Juvenile Parkinsonism", "Juvenile Parkinsonisms", "Dominant Parkinsonism, Autosomal", "Parkinson Disease, Juvenile, Autosomal Recessive", "Parkinsonism, MPTP-Induced Experimental", "Chromosome 6-Linked Autosomal Recessive Parkinsonism", "Juvenile Parkinsonism, Autosomal Dominant", "Parkinsonism, Familial Juvenile", "MPTP Induced Experimental Parkinsonism", "Parkinsonism, Autosomal Dominant", "Familial Parkinson Disease, Autosomal Recessive", "Parkinsonism, Experimental", "Ramsay Hunt Paralysis Syndrome", "Experimental Parkinsonism, MPTP-Induced", "Experimental Parkinson Disease", "Parkinsonian Syndrome", "Recessive Parkinsonism, Autosomal", "Juvenile Parkinsonism", "Experimental Parkinsonism", "Autosomal Dominant Juvenile Parkinson Disease", "Parkinsonism", "Parkinsonisms, Juvenile", "Experimental Parkinsonisms", "MPTP-Induced Experimental Parkinsonism", "Autosomal Recessive Juvenile Parkinson Disease"], "equivalent_curie": ["UMLS:CN227567", "UMLS:C0242422"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_CN230452", "http://purl.obolibrary.org/obo/MESH_D010300", "http://purl.obolibrary.org/obo/UMLS_C0030567"], "synonym_eng": ["Primary Parkinsonism", "Idiopathic Parkinson's Disease", "Parkinson disease", "Paralysis Agitans", "paralysis agitans", "Parkinson's Disease", "Lewy Body Parkinson Disease", "Parkinson Disease, Idiopathic", "Parkinson's Disease, Idiopathic", "Parkinsonism, Primary", "Parkinson's Disease, Lewy Body", "Idiopathic Parkinson Disease", "Lewy Body Parkinson's Disease"], "synonym_kw": ["Primary Parkinsonism", "Idiopathic Parkinson's Disease", "Parkinson disease", "Paralysis Agitans", "paralysis agitans", "Parkinson's Disease", "Lewy Body Parkinson Disease", "Parkinson Disease, Idiopathic", "Parkinson's Disease, Idiopathic", "Parkinsonism, Primary", "Parkinson's Disease, Lewy Body", "Idiopathic Parkinson Disease", "Lewy Body Parkinson's Disease"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_CN230452", "http://purl.obolibrary.org/obo/MESH_D010300", "http://purl.obolibrary.org/obo/UMLS_C0030567"], "iri": "http://purl.obolibrary.org/obo/DOID_14330", "_version_": 1564147993684213763, "label_eng": ["Parkinson's disease"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_CN230452", "http://purl.obolibrary.org/obo/MESH_D010300", "http://purl.obolibrary.org/obo/UMLS_C0030567"], "iri_kw": "http://purl.obolibrary.org/obo/DOID_14330", "iri_eng": "http://purl.obolibrary.org/obo/DOID_14330", "category_kw": ["disease"], "definition_std": ["A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions."], "id_eng": "DOID:14330", "definition_kw": ["A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions."], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:CN230452", "MESH:D010300", "UMLS:C0030567"], "label_kw": ["Parkinson's disease"], "synonym": ["Primary Parkinsonism", "Idiopathic Parkinson's Disease", "Parkinson disease", "Paralysis Agitans", "paralysis agitans", "Parkinson's Disease", "Lewy Body Parkinson Disease", "Parkinson Disease, Idiopathic", "Parkinson's Disease, Idiopathic", "Parkinsonism, Primary", "Parkinson's Disease, Lewy Body", "Idiopathic Parkinson Disease", "Lewy Body Parkinson's Disease"], "score": 33.683426, "id_std": "DOID:14330", "equivalent_curie_std": ["UMLS:CN230452", "MESH:D010300", "UMLS:C0030567"], "id": "DOID:14330", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_CN230452", "http://purl.obolibrary.org/obo/MESH_D010300", "http://purl.obolibrary.org/obo/UMLS_C0030567"], "iri_std": "http://purl.obolibrary.org/obo/DOID_14330", "id_kw": "DOID:14330", "leaf": false, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions."], "equivalent_curie_eng": ["UMLS:CN230452", "MESH:D010300", "UMLS:C0030567"], "label": ["Parkinson's disease"], "label_std": ["Parkinson's disease"], "definition": ["A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions."], "synonym_std": ["Primary Parkinsonism", "Idiopathic Parkinson's Disease", "Parkinson disease", "Paralysis Agitans", "paralysis agitans", "Parkinson's Disease", "Lewy Body Parkinson Disease", "Parkinson Disease, Idiopathic", "Parkinson's Disease, Idiopathic", "Parkinsonism, Primary", "Parkinson's Disease, Lewy Body", "Idiopathic Parkinson Disease", "Lewy Body Parkinson's Disease"], "equivalent_curie": ["UMLS:CN230452", "MESH:D010300", "UMLS:C0030567"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/MESH_C564653", "http://purl.obolibrary.org/obo/UMLS_C1847360"], "synonym_eng": ["Parkinson Disease, Age at Onset of", "PARK10", "PARKINSON DISEASE 10; PARK10", "Parkinson Disease type 10", "Parkinson Disease, Age At Onset Of"], "synonym_kw": ["Parkinson Disease, Age at Onset of", "PARK10", "PARKINSON DISEASE 10; PARK10", "Parkinson Disease type 10", "Parkinson Disease, Age At Onset Of"], "iri": "http://purl.obolibrary.org/obo/OMIM_606852", "_version_": 1564148010558947328, "label_eng": ["PARK10"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/MESH_C564653", "http://purl.obolibrary.org/obo/UMLS_C1847360"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_606852", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_606852", "category_kw": ["disease"], "id_eng": "OMIM:606852", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/MESH_C564653", "http://purl.obolibrary.org/obo/UMLS_C1847360"], "category_eng": ["disease"], "equivalent_curie_kw": ["MESH:C564653", "UMLS:C1847360"], "label_kw": ["PARK10"], "synonym": ["Parkinson Disease, Age at Onset of", "PARK10", "PARKINSON DISEASE 10; PARK10", "Parkinson Disease type 10", "Parkinson Disease, Age At Onset Of"], "score": 32.129173, "id_std": "OMIM:606852", "equivalent_curie_std": ["MESH:C564653", "UMLS:C1847360"], "id": "OMIM:606852", "equivalent_iri": ["http://purl.obolibrary.org/obo/MESH_C564653", "http://purl.obolibrary.org/obo/UMLS_C1847360"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_606852", "id_kw": "OMIM:606852", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["MESH:C564653", "UMLS:C1847360"], "label": ["PARK10"], "label_std": ["PARK10"], "synonym_std": ["Parkinson Disease, Age at Onset of", "PARK10", "PARKINSON DISEASE 10; PARK10", "Parkinson Disease type 10", "Parkinson Disease, Age At Onset Of"], "equivalent_curie": ["MESH:C564653", "UMLS:C1847360"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/DOID_0060897", "http://purl.obolibrary.org/obo/UMLS_C3280133"], "synonym_eng": ["Parkinson Disease type 17", "autosomal dominant Parkinson disease 17", "PARK17", "Parkinson disease type 17", "PARKINSON DISEASE 17; PARK17"], "synonym_kw": ["Parkinson Disease type 17", "autosomal dominant Parkinson disease 17", "PARK17", "Parkinson disease type 17", "PARKINSON DISEASE 17; PARK17"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/DOID_0060897", "http://purl.obolibrary.org/obo/UMLS_C3280133"], "iri": "http://purl.obolibrary.org/obo/OMIM_614203", "_version_": 1564148004686921729, "label_eng": ["Parkinson disease 17"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/DOID_0060897", "http://purl.obolibrary.org/obo/UMLS_C3280133"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_614203", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_614203", "category_kw": ["disease"], "definition_std": ["A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13."], "id_eng": "OMIM:614203", "definition_kw": ["A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13."], "category_eng": ["disease"], "equivalent_curie_kw": ["DOID:0060897", "UMLS:C3280133"], "label_kw": ["Parkinson disease 17"], "synonym": ["Parkinson Disease type 17", "autosomal dominant Parkinson disease 17", "PARK17", "Parkinson disease type 17", "PARKINSON DISEASE 17; PARK17"], "score": 32.129173, "id_std": "OMIM:614203", "equivalent_curie_std": ["DOID:0060897", "UMLS:C3280133"], "id": "OMIM:614203", "equivalent_iri": ["http://purl.obolibrary.org/obo/DOID_0060897", "http://purl.obolibrary.org/obo/UMLS_C3280133"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_614203", "id_kw": "OMIM:614203", "leaf": true, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13."], "equivalent_curie_eng": ["DOID:0060897", "UMLS:C3280133"], "label": ["Parkinson disease 17"], "label_std": ["Parkinson disease 17"], "definition": ["A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13."], "synonym_std": ["Parkinson Disease type 17", "autosomal dominant Parkinson disease 17", "PARK17", "Parkinson disease type 17", "PARKINSON DISEASE 17; PARK17"], "equivalent_curie": ["DOID:0060897", "UMLS:C3280133"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/MESH_C564486", "http://purl.obolibrary.org/obo/UMLS_C1845165"], "synonym_eng": ["Parkinson Disease, X-Linked", "PARK12", "Parkinson Disease type 12", "PARKINSON DISEASE 12; PARK12"], "synonym_kw": ["Parkinson Disease, X-Linked", "PARK12", "Parkinson Disease type 12", "PARKINSON DISEASE 12; PARK12"], "iri": "http://purl.obolibrary.org/obo/OMIM_300557", "_version_": 1564148008489058304, "label_eng": ["PARK12"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/MESH_C564486", "http://purl.obolibrary.org/obo/UMLS_C1845165"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_300557", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_300557", "category_kw": ["disease"], "id_eng": "OMIM:300557", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/MESH_C564486", "http://purl.obolibrary.org/obo/UMLS_C1845165"], "category_eng": ["disease"], "equivalent_curie_kw": ["MESH:C564486", "UMLS:C1845165"], "label_kw": ["PARK12"], "synonym": ["Parkinson Disease, X-Linked", "PARK12", "Parkinson Disease type 12", "PARKINSON DISEASE 12; PARK12"], "score": 31.771923, "id_std": "OMIM:300557", "equivalent_curie_std": ["MESH:C564486", "UMLS:C1845165"], "id": "OMIM:300557", "equivalent_iri": ["http://purl.obolibrary.org/obo/MESH_C564486", "http://purl.obolibrary.org/obo/UMLS_C1845165"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_300557", "id_kw": "OMIM:300557", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["MESH:C564486", "UMLS:C1845165"], "label": ["PARK12"], "label_std": ["PARK12"], "synonym_std": ["Parkinson Disease, X-Linked", "PARK12", "Parkinson Disease type 12", "PARKINSON DISEASE 12; PARK12"], "equivalent_curie": ["MESH:C564486", "UMLS:C1845165"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3489791"], "synonym_eng": ["Lewy Body Parkinsonism", "Parkinson Disease, Autosomal Dominant", "Atypical Parkinson Disease"], "synonym_kw": ["Lewy Body Parkinsonism", "Parkinson Disease, Autosomal Dominant", "Atypical Parkinson Disease"], "iri": "http://purl.obolibrary.org/obo/MESH_C566823", "_version_": 1564147994984448003, "label_eng": ["Parkinson Disease, Familial, Type 1"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3489791"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_C566823", "iri_eng": "http://purl.obolibrary.org/obo/MESH_C566823", "category_kw": ["disease"], "id_eng": "MESH:C566823", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3489791"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C3489791"], "label_kw": ["Parkinson Disease, Familial, Type 1"], "synonym": ["Lewy Body Parkinsonism", "Parkinson Disease, Autosomal Dominant", "Atypical Parkinson Disease"], "score": 31.771923, "id_std": "MESH:C566823", "equivalent_curie_std": ["UMLS:C3489791"], "id": "MESH:C566823", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3489791"], "iri_std": "http://purl.obolibrary.org/obo/MESH_C566823", "id_kw": "MESH:C566823", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["UMLS:C3489791"], "label": ["Parkinson Disease, Familial, Type 1"], "label_std": ["Parkinson Disease, Familial, Type 1"], "synonym_std": ["Lewy Body Parkinsonism", "Parkinson Disease, Autosomal Dominant", "Atypical Parkinson Disease"], "equivalent_curie": ["UMLS:C3489791"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/DOID_0060900", "http://purl.obolibrary.org/obo/UMLS_C2751842", "http://www.orpha.net/ORDO/Orphanet_199351"], "synonym_eng": ["autosomal recessive Parkinson disease type 14", "PARK14", "PLA2G6-related dystonia-parkinsonism", "PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE; PARK14", "Dystonia-parkinsonism, Paisan-Ruiz type", "Dystonia-Parkinsonism, Adult-Onset"], "synonym_kw": ["autosomal recessive Parkinson disease type 14", "PARK14", "PLA2G6-related dystonia-parkinsonism", "PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE; PARK14", "Dystonia-parkinsonism, Paisan-Ruiz type", "Dystonia-Parkinsonism, Adult-Onset"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/DOID_0060900", "http://purl.obolibrary.org/obo/UMLS_C2751842", "http://www.orpha.net/ORDO/Orphanet_199351"], "iri": "http://purl.obolibrary.org/obo/OMIM_612953", "_version_": 1564148003149709313, "label_eng": ["autosomal recessive Parkinson disease 14"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/DOID_0060900", "http://purl.obolibrary.org/obo/UMLS_C2751842", "http://www.orpha.net/ORDO/Orphanet_199351"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_612953", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_612953", "category_kw": ["disease"], "definition_std": ["Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline."], "id_eng": "OMIM:612953", "definition_kw": ["Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline."], "category_eng": ["disease"], "equivalent_curie_kw": ["DOID:0060900", "UMLS:C2751842", "Orphanet:199351"], "label_kw": ["autosomal recessive Parkinson disease 14"], "synonym": ["autosomal recessive Parkinson disease type 14", "PARK14", "PLA2G6-related dystonia-parkinsonism", "PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE; PARK14", "Dystonia-parkinsonism, Paisan-Ruiz type", "Dystonia-Parkinsonism, Adult-Onset"], "score": 31.595858, "id_std": "OMIM:612953", "equivalent_curie_std": ["DOID:0060900", "UMLS:C2751842", "Orphanet:199351"], "id": "OMIM:612953", "equivalent_iri": ["http://purl.obolibrary.org/obo/DOID_0060900", "http://purl.obolibrary.org/obo/UMLS_C2751842", "http://www.orpha.net/ORDO/Orphanet_199351"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_612953", "id_kw": "OMIM:612953", "leaf": true, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline."], "equivalent_curie_eng": ["DOID:0060900", "UMLS:C2751842", "Orphanet:199351"], "label": ["autosomal recessive Parkinson disease 14"], "label_std": ["autosomal recessive Parkinson disease 14"], "definition": ["Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline."], "synonym_std": ["autosomal recessive Parkinson disease type 14", "PARK14", "PLA2G6-related dystonia-parkinsonism", "PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE; PARK14", "Dystonia-parkinsonism, Paisan-Ruiz type", "Dystonia-Parkinsonism, Adult-Onset"], "equivalent_curie": ["DOID:0060900", "UMLS:C2751842", "Orphanet:199351"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3149705", "http://purl.obolibrary.org/obo/UMLS_C1868595", "http://purl.obolibrary.org/obo/UMLS_C1868596", "http://purl.obolibrary.org/obo/DOID_0060367"], "synonym_eng": ["PARK1", "autosomal dominant Parkinson disease type 1", "Parkinson Disease 1, Autosomal Dominant Lewy Body", "PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1", "Atypical Parkinson Disease"], "synonym_kw": ["PARK1", "autosomal dominant Parkinson disease type 1", "Parkinson Disease 1, Autosomal Dominant Lewy Body", "PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1", "Atypical Parkinson Disease"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3149705", "http://purl.obolibrary.org/obo/UMLS_C1868595", "http://purl.obolibrary.org/obo/UMLS_C1868596", "http://purl.obolibrary.org/obo/DOID_0060367"], "iri": "http://purl.obolibrary.org/obo/OMIM_168601", "_version_": 1564148005232181248, "label_eng": ["autosomal dominant Parkinson disease 1"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3149705", "http://purl.obolibrary.org/obo/UMLS_C1868595", "http://purl.obolibrary.org/obo/UMLS_C1868596", "http://purl.obolibrary.org/obo/DOID_0060367"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_168601", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_168601", "category_kw": ["disease"], "definition_std": ["A Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein (SNCA) gene on chromosome 4q22.1."], "id_eng": "OMIM:168601", "definition_kw": ["A Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein (SNCA) gene on chromosome 4q22.1."], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C3149705", "UMLS:C1868595", "UMLS:C1868596", "DOID:0060367"], "label_kw": ["autosomal dominant Parkinson disease 1"], "synonym": ["PARK1", "autosomal dominant Parkinson disease type 1", "Parkinson Disease 1, Autosomal Dominant Lewy Body", "PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1", "Atypical Parkinson Disease"], "score": 31.448643, "id_std": "OMIM:168601", "equivalent_curie_std": ["UMLS:C3149705", "UMLS:C1868595", "UMLS:C1868596", "DOID:0060367"], "id": "OMIM:168601", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3149705", "http://purl.obolibrary.org/obo/UMLS_C1868595", "http://purl.obolibrary.org/obo/UMLS_C1868596", "http://purl.obolibrary.org/obo/DOID_0060367"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_168601", "id_kw": "OMIM:168601", "leaf": false, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["A Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein (SNCA) gene on chromosome 4q22.1."], "equivalent_curie_eng": ["UMLS:C3149705", "UMLS:C1868595", "UMLS:C1868596", "DOID:0060367"], "label": ["autosomal dominant Parkinson disease 1"], "label_std": ["autosomal dominant Parkinson disease 1"], "definition": ["A Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein (SNCA) gene on chromosome 4q22.1."], "synonym_std": ["PARK1", "autosomal dominant Parkinson disease type 1", "Parkinson Disease 1, Autosomal Dominant Lewy Body", "PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1", "Atypical Parkinson Disease"], "equivalent_curie": ["UMLS:C3149705", "UMLS:C1868595", "UMLS:C1868596", "DOID:0060367"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C1865581", "http://purl.obolibrary.org/obo/MESH_C566552"], "synonym_eng": ["Parkinson Disease 3, Autosomal Dominant", "PARKINSON DISEASE 3, AUTOSOMAL DOMINANT; PARK3", "Parkinson Disease 3, Autosomal Dominant Lewy Body", "PARK3"], "synonym_kw": ["Parkinson Disease 3, Autosomal Dominant", "PARKINSON DISEASE 3, AUTOSOMAL DOMINANT; PARK3", "Parkinson Disease 3, Autosomal Dominant Lewy Body", "PARK3"], "iri": "http://purl.obolibrary.org/obo/OMIM_602404", "_version_": 1564148007548485632, "label_eng": ["PARK3"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C1865581", "http://purl.obolibrary.org/obo/MESH_C566552"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_602404", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_602404", "category_kw": ["disease"], "id_eng": "OMIM:602404", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C1865581", "http://purl.obolibrary.org/obo/MESH_C566552"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C1865581", "MESH:C566552"], "label_kw": ["PARK3"], "synonym": ["Parkinson Disease 3, Autosomal Dominant", "PARKINSON DISEASE 3, AUTOSOMAL DOMINANT; PARK3", "Parkinson Disease 3, Autosomal Dominant Lewy Body", "PARK3"], "score": 30.740475, "id_std": "OMIM:602404", "equivalent_curie_std": ["UMLS:C1865581", "MESH:C566552"], "id": "OMIM:602404", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C1865581", "http://purl.obolibrary.org/obo/MESH_C566552"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_602404", "id_kw": "OMIM:602404", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["UMLS:C1865581", "MESH:C566552"], "label": ["PARK3"], "label_std": ["PARK3"], "synonym_std": ["Parkinson Disease 3, Autosomal Dominant", "PARKINSON DISEASE 3, AUTOSOMAL DOMINANT; PARK3", "Parkinson Disease 3, Autosomal Dominant Lewy Body", "PARK3"], "equivalent_curie": ["UMLS:C1865581", "MESH:C566552"]}, {"taxon_eng": "NCBITaxon:9598", "taxon_label_synonym": ["Chimpansee troglodytes", "chimpanzee"], "taxon_std": "NCBITaxon:9598", "equivalent_curie": ["ENSEMBL:ENSPTRG00000000102"], "taxon_label_eng": "Pan troglodytes", "synonym_kw": ["protein deglycase DJ-1", "Parkinsonism associated deglycase", "Parkinson disease (autosomal recessive, early onset) 7", "parkinson protein 7"], "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSPTRG00000000102"], "iri": "http://www.ncbi.nlm.nih.gov/gene/746063", "_version_": 1564148038419611648, "label_eng": ["PARK7"], "taxon_kw": "NCBITaxon:9598", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/746063", "taxon_label_kw": "Pan troglodytes", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/746063", "category_kw": ["gene"], "taxon_label_synonym_std": ["Chimpansee troglodytes", "chimpanzee"], "synonym_eng": ["protein deglycase DJ-1", "Parkinsonism associated deglycase", "Parkinson disease (autosomal recessive, early onset) 7", "parkinson protein 7"], "id_kw": "NCBIGene:746063", "id_eng": "NCBIGene:746063", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["ENSEMBL:ENSPTRG00000000102"], "label_kw": ["PARK7"], "synonym": ["protein deglycase DJ-1", "Parkinsonism associated deglycase", "Parkinson disease (autosomal recessive, early onset) 7", "parkinson protein 7"], "score": 30.740475, "id_std": "NCBIGene:746063", "equivalent_curie_std": ["ENSEMBL:ENSPTRG00000000102"], "id": "NCBIGene:746063", "equivalent_iri": ["http://identifiers.org/ensembl/ENSPTRG00000000102"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/746063", "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSPTRG00000000102"], "taxon": "NCBITaxon:9598", "leaf": true, "taxon_label_synonym_kw": ["Chimpansee troglodytes", "chimpanzee"], "category_std": ["gene"], "equivalent_curie_eng": ["ENSEMBL:ENSPTRG00000000102"], "label": ["PARK7"], "taxon_label_std": "Pan troglodytes", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSPTRG00000000102"], "label_std": ["PARK7"], "synonym_std": ["protein deglycase DJ-1", "Parkinsonism associated deglycase", "Parkinson disease (autosomal recessive, early onset) 7", "parkinson protein 7"], "taxon_label_synonym_eng": ["Chimpansee troglodytes", "chimpanzee"], "taxon_label": "Pan troglodytes"}, {"taxon_eng": "NCBITaxon:9031", "taxon_label_synonym": ["chickens", "chicken", "bantam", "Gallus domesticus", "Gallus gallus domesticus"], "taxon_std": "NCBITaxon:9031", "equivalent_curie": ["ENSEMBL:ENSGALG00000036214"], "taxon_label_eng": "Gallus gallus", "synonym_kw": ["protein DJ-1", "protein deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7", "parkinson disease protein 7 homolog", "DJ-1", "Parkinson disease 7"], "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSGALG00000036214"], "iri": "http://www.ncbi.nlm.nih.gov/gene/395277", "_version_": 1564148211865616385, "label_eng": ["PARK7"], "taxon_kw": "NCBITaxon:9031", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/395277", "taxon_label_kw": "Gallus gallus", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/395277", "category_kw": ["gene"], "taxon_label_synonym_std": ["chickens", "chicken", "bantam", "Gallus domesticus", "Gallus gallus domesticus"], "synonym_eng": ["protein DJ-1", "protein deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7", "parkinson disease protein 7 homolog", "DJ-1", "Parkinson disease 7"], "id_kw": "NCBIGene:395277", "id_eng": "NCBIGene:395277", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["ENSEMBL:ENSGALG00000036214"], "label_kw": ["PARK7"], "synonym": ["protein DJ-1", "protein deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7", "parkinson disease protein 7 homolog", "DJ-1", "Parkinson disease 7"], "score": 30.740475, "id_std": "NCBIGene:395277", "equivalent_curie_std": ["ENSEMBL:ENSGALG00000036214"], "id": "NCBIGene:395277", "equivalent_iri": ["http://identifiers.org/ensembl/ENSGALG00000036214"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/395277", "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSGALG00000036214"], "taxon": "NCBITaxon:9031", "leaf": true, "taxon_label_synonym_kw": ["chickens", "chicken", "bantam", "Gallus domesticus", "Gallus gallus domesticus"], "category_std": ["gene"], "equivalent_curie_eng": ["ENSEMBL:ENSGALG00000036214"], "label": ["PARK7"], "taxon_label_std": "Gallus gallus", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSGALG00000036214"], "label_std": ["PARK7"], "synonym_std": ["protein DJ-1", "protein deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7", "parkinson disease protein 7 homolog", "DJ-1", "Parkinson disease 7"], "taxon_label_synonym_eng": ["chickens", "chicken", "bantam", "Gallus domesticus", "Gallus gallus domesticus"], "taxon_label": "Gallus gallus"}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C1854182", "http://purl.obolibrary.org/obo/DOID_0060895"], "synonym_eng": ["Parkinson Disease 4, Autosomal Dominant Lewy Body", "autosomal dominant Parkinson disease type 4", "autosomal dominant Lewy body Parkinson disease 4", "PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4", "PARK4"], "synonym_kw": ["Parkinson Disease 4, Autosomal Dominant Lewy Body", "autosomal dominant Parkinson disease type 4", "autosomal dominant Lewy body Parkinson disease 4", "PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4", "PARK4"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C1854182", "http://purl.obolibrary.org/obo/DOID_0060895"], "iri": "http://purl.obolibrary.org/obo/OMIM_605543", "_version_": 1564148009670803458, "label_eng": ["autosomal dominant Parkinson disease 4"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C1854182", "http://purl.obolibrary.org/obo/DOID_0060895"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_605543", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_605543", "category_kw": ["disease"], "definition_std": ["A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22."], "id_eng": "OMIM:605543", "definition_kw": ["A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22."], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C1854182", "DOID:0060895"], "label_kw": ["autosomal dominant Parkinson disease 4"], "synonym": ["Parkinson Disease 4, Autosomal Dominant Lewy Body", "autosomal dominant Parkinson disease type 4", "autosomal dominant Lewy body Parkinson disease 4", "PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4", "PARK4"], "score": 30.454763, "id_std": "OMIM:605543", "equivalent_curie_std": ["UMLS:C1854182", "DOID:0060895"], "id": "OMIM:605543", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C1854182", "http://purl.obolibrary.org/obo/DOID_0060895"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_605543", "id_kw": "OMIM:605543", "leaf": false, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22."], "equivalent_curie_eng": ["UMLS:C1854182", "DOID:0060895"], "label": ["autosomal dominant Parkinson disease 4"], "label_std": ["autosomal dominant Parkinson disease 4"], "definition": ["A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22."], "synonym_std": ["Parkinson Disease 4, Autosomal Dominant Lewy Body", "autosomal dominant Parkinson disease type 4", "autosomal dominant Lewy body Parkinson disease 4", "PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4", "PARK4"], "equivalent_curie": ["UMLS:C1854182", "DOID:0060895"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C1868675", "http://purl.obolibrary.org/obo/DOID_0060368", "http://purl.obolibrary.org/obo/UMLS_C0752099"], "synonym_eng": ["Parkinsonism, Early-Onset, With Diurnal Fluctuation", "PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2", "autosomal recessive juvenile Parkinson disease type 2", "Parkinson Disease, Juvenile, Autosomal Recessive", "PARK2"], "synonym_kw": ["Parkinsonism, Early-Onset, With Diurnal Fluctuation", "PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2", "autosomal recessive juvenile Parkinson disease type 2", "Parkinson Disease, Juvenile, Autosomal Recessive", "PARK2"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C1868675", "http://purl.obolibrary.org/obo/DOID_0060368", "http://purl.obolibrary.org/obo/UMLS_C0752099"], "iri": "http://purl.obolibrary.org/obo/OMIM_600116", "_version_": 1564148005441896448, "label_eng": ["autosomal recessive juvenile Parkinson disease 2"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C1868675", "http://purl.obolibrary.org/obo/DOID_0060368", "http://purl.obolibrary.org/obo/UMLS_C0752099"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_600116", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_600116", "category_kw": ["disease"], "definition_std": ["A Parkinson's disease that has_material_basis_in mutation in the parkin gene (PARK2) on chromosome 6q25.2-q27."], "id_eng": "OMIM:600116", "definition_kw": ["A Parkinson's disease that has_material_basis_in mutation in the parkin gene (PARK2) on chromosome 6q25.2-q27."], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C1868675", "DOID:0060368", "UMLS:C0752099"], "label_kw": ["autosomal recessive juvenile Parkinson disease 2"], "synonym": ["Parkinsonism, Early-Onset, With Diurnal Fluctuation", "PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2", "autosomal recessive juvenile Parkinson disease type 2", "Parkinson Disease, Juvenile, Autosomal Recessive", "PARK2"], "score": 30.454763, "id_std": "OMIM:600116", "equivalent_curie_std": ["UMLS:C1868675", "DOID:0060368", "UMLS:C0752099"], "id": "OMIM:600116", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C1868675", "http://purl.obolibrary.org/obo/DOID_0060368", "http://purl.obolibrary.org/obo/UMLS_C0752099"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_600116", "id_kw": "OMIM:600116", "leaf": true, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["A Parkinson's disease that has_material_basis_in mutation in the parkin gene (PARK2) on chromosome 6q25.2-q27."], "equivalent_curie_eng": ["UMLS:C1868675", "DOID:0060368", "UMLS:C0752099"], "label": ["autosomal recessive juvenile Parkinson disease 2"], "label_std": ["autosomal recessive juvenile Parkinson disease 2"], "definition": ["A Parkinson's disease that has_material_basis_in mutation in the parkin gene (PARK2) on chromosome 6q25.2-q27."], "synonym_std": ["Parkinsonism, Early-Onset, With Diurnal Fluctuation", "PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2", "autosomal recessive juvenile Parkinson disease type 2", "Parkinson Disease, Juvenile, Autosomal Recessive", "PARK2"], "equivalent_curie": ["UMLS:C1868675", "DOID:0060368", "UMLS:C0752099"]}, {"taxon_eng": "NCBITaxon:10116", "taxon_label_synonym": ["brown rat", "Norway rat", "rat", "Rattus sp. strain Wistar", "Rattus rattiscus", "Rattus norwegicus", "rats", "Gunn rats", "Rattus norvegicus8"], "taxon_std": "NCBITaxon:10116", "equivalent_curie": ["ENSEMBL:ENSRNOG00000018289", "RGD:621808"], "taxon_label_eng": "Rattus norvegicus", "synonym_kw": ["CAP1", "protein DJ-1", "protein deglycase DJ-1", "Parkinsonism associated deglycase", "Parkinson disease (autosomal recessive, early onset) 7", "parkinson protein 7", "parkinson disease protein 7 homolog", "fertility protein SP22", "DJ-1", "Dj1", "SP22", "contraception-associated protein 1"], "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSRNOG00000018289", "http://rgd.mcw.edu/rgdweb/report/gene/main.html?id=621808"], "iri": "http://www.ncbi.nlm.nih.gov/gene/117287", "_version_": 1564148265725722626, "label_eng": ["Park7"], "taxon_kw": "NCBITaxon:10116", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/117287", "taxon_label_kw": "Rattus norvegicus", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/117287", "category_kw": ["gene"], "taxon_label_synonym_std": ["brown rat", "Norway rat", "rat", "Rattus sp. strain Wistar", "Rattus rattiscus", "Rattus norwegicus", "rats", "Gunn rats", "Rattus norvegicus8"], "synonym_eng": ["CAP1", "protein DJ-1", "protein deglycase DJ-1", "Parkinsonism associated deglycase", "Parkinson disease (autosomal recessive, early onset) 7", "parkinson protein 7", "parkinson disease protein 7 homolog", "fertility protein SP22", "DJ-1", "Dj1", "SP22", "contraception-associated protein 1"], "id_kw": "NCBIGene:117287", "id_eng": "NCBIGene:117287", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["ENSEMBL:ENSRNOG00000018289", "RGD:621808"], "label_kw": ["Park7"], "synonym": ["CAP1", "protein DJ-1", "protein deglycase DJ-1", "Parkinsonism associated deglycase", "Parkinson disease (autosomal recessive, early onset) 7", "parkinson protein 7", "parkinson disease protein 7 homolog", "fertility protein SP22", "DJ-1", "Dj1", "SP22", "contraception-associated protein 1"], "score": 30.454763, "id_std": "NCBIGene:117287", "equivalent_curie_std": ["ENSEMBL:ENSRNOG00000018289", "RGD:621808"], "id": "NCBIGene:117287", "equivalent_iri": ["http://identifiers.org/ensembl/ENSRNOG00000018289", "http://rgd.mcw.edu/rgdweb/report/gene/main.html?id=621808"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/117287", "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSRNOG00000018289", "http://rgd.mcw.edu/rgdweb/report/gene/main.html?id=621808"], "taxon": "NCBITaxon:10116", "leaf": true, "taxon_label_synonym_kw": ["brown rat", "Norway rat", "rat", "Rattus sp. strain Wistar", "Rattus rattiscus", "Rattus norwegicus", "rats", "Gunn rats", "Rattus norvegicus8"], "category_std": ["gene"], "equivalent_curie_eng": ["ENSEMBL:ENSRNOG00000018289", "RGD:621808"], "label": ["Park7"], "taxon_label_std": "Rattus norvegicus", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSRNOG00000018289", "http://rgd.mcw.edu/rgdweb/report/gene/main.html?id=621808"], "label_std": ["Park7"], "synonym_std": ["CAP1", "protein DJ-1", "protein deglycase DJ-1", "Parkinsonism associated deglycase", "Parkinson disease (autosomal recessive, early onset) 7", "parkinson protein 7", "parkinson disease protein 7 homolog", "fertility protein SP22", "DJ-1", "Dj1", "SP22", "contraception-associated protein 1"], "taxon_label_synonym_eng": ["brown rat", "Norway rat", "rat", "Rattus sp. strain Wistar", "Rattus rattiscus", "Rattus norwegicus", "rats", "Gunn rats", "Rattus norvegicus8"], "taxon_label": "Rattus norvegicus"}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_CN230317"], "synonym_eng": ["PARK21", "PARKINSON DISEASE 21; PARK21", "Parkinson Disease type 21"], "synonym_kw": ["PARK21", "PARKINSON DISEASE 21; PARK21", "Parkinson Disease type 21"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_CN230317"], "iri": "http://purl.obolibrary.org/obo/OMIM_616361", "_version_": 1564148006884737026, "label_eng": ["Parkinson Disease 21"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_CN230317"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_616361", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_616361", "category_kw": ["disease"], "definition_std": ["See http://www.omim.org/entry/616361"], "id_eng": "OMIM:616361", "definition_kw": ["See http://www.omim.org/entry/616361"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:CN230317"], "label_kw": ["Parkinson Disease 21"], "synonym": ["PARK21", "PARKINSON DISEASE 21; PARK21", "Parkinson Disease type 21"], "score": 30.397106, "id_std": "OMIM:616361", "equivalent_curie_std": ["UMLS:CN230317"], "id": "OMIM:616361", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_CN230317"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_616361", "id_kw": "OMIM:616361", "leaf": true, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["See http://www.omim.org/entry/616361"], "equivalent_curie_eng": ["UMLS:CN230317"], "label": ["Parkinson Disease 21"], "label_std": ["Parkinson Disease 21"], "definition": ["See http://www.omim.org/entry/616361"], "synonym_std": ["PARK21", "PARKINSON DISEASE 21; PARK21", "Parkinson Disease type 21"], "equivalent_curie": ["UMLS:CN230317"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C2751012", "http://purl.obolibrary.org/obo/MESH_C567726"], "synonym_eng": ["PARK16", "Parkinson Disease type 16", "PARKINSON DISEASE 16; PARK16"], "synonym_kw": ["PARK16", "Parkinson Disease type 16", "PARKINSON DISEASE 16; PARK16"], "iri": "http://purl.obolibrary.org/obo/OMIM_613164", "_version_": 1564148004050436096, "label_eng": ["PARK16"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C2751012", "http://purl.obolibrary.org/obo/MESH_C567726"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_613164", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_613164", "category_kw": ["disease"], "id_eng": "OMIM:613164", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C2751012", "http://purl.obolibrary.org/obo/MESH_C567726"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C2751012", "MESH:C567726"], "label_kw": ["PARK16"], "synonym": ["PARK16", "Parkinson Disease type 16", "PARKINSON DISEASE 16; PARK16"], "score": 30.397106, "id_std": "OMIM:613164", "equivalent_curie_std": ["UMLS:C2751012", "MESH:C567726"], "id": "OMIM:613164", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C2751012", "http://purl.obolibrary.org/obo/MESH_C567726"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_613164", "id_kw": "OMIM:613164", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["UMLS:C2751012", "MESH:C567726"], "label": ["PARK16"], "label_std": ["PARK16"], "synonym_std": ["PARK16", "Parkinson Disease type 16", "PARKINSON DISEASE 16; PARK16"], "equivalent_curie": ["UMLS:C2751012", "MESH:C567726"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C1850100", "http://purl.obolibrary.org/obo/UMLS_CN200292", "http://www.orpha.net/ORDO/Orphanet_171695", "http://purl.obolibrary.org/obo/DOID_0060372", "http://purl.obolibrary.org/obo/MESH_C538104"], "synonym_eng": ["PARK15", "PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15", "Parkinsonian-Pyramidal Syndrome", "Parkinsonian-pyramidal syndrome", "pallidopyramidal syndrome", "Parkinson Disease 15, Autosomal Recessive", "Pallidopyramidal Syndrome", "Pallido-pyramidal disease", "Pallidopyramidal syndrome", "Pallido-Pyramidal Syndrome", "autosomal recessive early-onset Parkinson disease type 15"], "synonym_kw": ["PARK15", "PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15", "Parkinsonian-Pyramidal Syndrome", "Parkinsonian-pyramidal syndrome", "pallidopyramidal syndrome", "Parkinson Disease 15, Autosomal Recessive", "Pallidopyramidal Syndrome", "Pallido-pyramidal disease", "Pallidopyramidal syndrome", "Pallido-Pyramidal Syndrome", "autosomal recessive early-onset Parkinson disease type 15"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C1850100", "http://purl.obolibrary.org/obo/UMLS_CN200292", "http://www.orpha.net/ORDO/Orphanet_171695", "http://purl.obolibrary.org/obo/DOID_0060372", "http://purl.obolibrary.org/obo/MESH_C538104"], "iri": "http://purl.obolibrary.org/obo/OMIM_260300", "_version_": 1564148008232157184, "label_eng": ["autosomal recessive early-onset Parkinson disease 15"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C1850100", "http://purl.obolibrary.org/obo/UMLS_CN200292", "http://www.orpha.net/ORDO/Orphanet_171695", "http://purl.obolibrary.org/obo/DOID_0060372", "http://purl.obolibrary.org/obo/MESH_C538104"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_260300", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_260300", "category_kw": ["disease"], "definition_std": ["A Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3."], "id_eng": "OMIM:260300", "definition_kw": ["A Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3."], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C1850100", "UMLS:CN200292", "Orphanet:171695", "DOID:0060372", "MESH:C538104"], "label_kw": ["autosomal recessive early-onset Parkinson disease 15"], "synonym": ["PARK15", "PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15", "Parkinsonian-Pyramidal Syndrome", "Parkinsonian-pyramidal syndrome", "pallidopyramidal syndrome", "Parkinson Disease 15, Autosomal Recessive", "Pallidopyramidal Syndrome", "Pallido-pyramidal disease", "Pallidopyramidal syndrome", "Pallido-Pyramidal Syndrome", "autosomal recessive early-onset Parkinson disease type 15"], "score": 30.278698, "id_std": "OMIM:260300", "equivalent_curie_std": ["UMLS:C1850100", "UMLS:CN200292", "Orphanet:171695", "DOID:0060372", "MESH:C538104"], "id": "OMIM:260300", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C1850100", "http://purl.obolibrary.org/obo/UMLS_CN200292", "http://www.orpha.net/ORDO/Orphanet_171695", "http://purl.obolibrary.org/obo/DOID_0060372", "http://purl.obolibrary.org/obo/MESH_C538104"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_260300", "id_kw": "OMIM:260300", "leaf": false, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["A Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3."], "equivalent_curie_eng": ["UMLS:C1850100", "UMLS:CN200292", "Orphanet:171695", "DOID:0060372", "MESH:C538104"], "label": ["autosomal recessive early-onset Parkinson disease 15"], "label_std": ["autosomal recessive early-onset Parkinson disease 15"], "definition": ["A Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3."], "synonym_std": ["PARK15", "PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15", "Parkinsonian-Pyramidal Syndrome", "Parkinsonian-pyramidal syndrome", "pallidopyramidal syndrome", "Parkinson Disease 15, Autosomal Recessive", "Pallidopyramidal Syndrome", "Pallido-pyramidal disease", "Pallidopyramidal syndrome", "Pallido-Pyramidal Syndrome", "autosomal recessive early-onset Parkinson disease type 15"], "equivalent_curie": ["UMLS:C1850100", "UMLS:CN200292", "Orphanet:171695", "DOID:0060372", "MESH:C538104"]}, {"equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_53351", "http://purl.obolibrary.org/obo/UMLS_C1839130", "http://purl.obolibrary.org/obo/MESH_C564048", "http://purl.obolibrary.org/obo/DOID_0090057"], "synonym_eng": ["Lubag syndrome", "DYT3", "X-Linked Dystonia-Parkinsonism Syndrome", "Torsion Dystonia-Parkinsonism, Filipino Type", "XDP", "X-Linked Torsion Dystonia-Parkinsonism Syndrome", "Lubag", "Dystonia-Parkinsonism, X-Linked", "X-Linked Dystonia-Parkinsonism", "Lubag Syndrome", "DYSTONIA 3, TORSION, X-LINKED; DYT3"], "synonym_kw": ["Lubag syndrome", "DYT3", "X-Linked Dystonia-Parkinsonism Syndrome", "Torsion Dystonia-Parkinsonism, Filipino Type", "XDP", "X-Linked Torsion Dystonia-Parkinsonism Syndrome", "Lubag", "Dystonia-Parkinsonism, X-Linked", "X-Linked Dystonia-Parkinsonism", "Lubag Syndrome", "DYSTONIA 3, TORSION, X-LINKED; DYT3"], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_53351", "http://purl.obolibrary.org/obo/UMLS_C1839130", "http://purl.obolibrary.org/obo/MESH_C564048", "http://purl.obolibrary.org/obo/DOID_0090057"], "iri": "http://purl.obolibrary.org/obo/OMIM_314250", "_version_": 1564148008309751811, "label_eng": ["X-linked dystonia-parkinsonism"], "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_53351", "http://purl.obolibrary.org/obo/UMLS_C1839130", "http://purl.obolibrary.org/obo/MESH_C564048", "http://purl.obolibrary.org/obo/DOID_0090057"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_314250", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_314250", "category_kw": ["disease"], "definition_std": ["X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course."], "id_eng": "OMIM:314250", "definition_kw": ["X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course."], "category_eng": ["disease"], "equivalent_curie_kw": ["Orphanet:53351", "UMLS:C1839130", "MESH:C564048", "DOID:0090057"], "label_kw": ["X-linked dystonia-parkinsonism"], "synonym": ["Lubag syndrome", "DYT3", "X-Linked Dystonia-Parkinsonism Syndrome", "Torsion Dystonia-Parkinsonism, Filipino Type", "XDP", "X-Linked Torsion Dystonia-Parkinsonism Syndrome", "Lubag", "Dystonia-Parkinsonism, X-Linked", "X-Linked Dystonia-Parkinsonism", "Lubag Syndrome", "DYSTONIA 3, TORSION, X-LINKED; DYT3"], "score": 30.278698, "id_std": "OMIM:314250", "equivalent_curie_std": ["Orphanet:53351", "UMLS:C1839130", "MESH:C564048", "DOID:0090057"], "id": "OMIM:314250", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_53351", "http://purl.obolibrary.org/obo/UMLS_C1839130", "http://purl.obolibrary.org/obo/MESH_C564048", "http://purl.obolibrary.org/obo/DOID_0090057"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_314250", "id_kw": "OMIM:314250", "leaf": true, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course."], "equivalent_curie_eng": ["Orphanet:53351", "UMLS:C1839130", "MESH:C564048", "DOID:0090057"], "label": ["X-linked dystonia-parkinsonism"], "label_std": ["X-linked dystonia-parkinsonism"], "definition": ["X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course."], "synonym_std": ["Lubag syndrome", "DYT3", "X-Linked Dystonia-Parkinsonism Syndrome", "Torsion Dystonia-Parkinsonism, Filipino Type", "XDP", "X-Linked Torsion Dystonia-Parkinsonism Syndrome", "Lubag", "Dystonia-Parkinsonism, X-Linked", "X-Linked Dystonia-Parkinsonism", "Lubag Syndrome", "DYSTONIA 3, TORSION, X-LINKED; DYT3"], "equivalent_curie": ["Orphanet:53351", "UMLS:C1839130", "MESH:C564048", "DOID:0090057"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/MESH_C565276", "http://purl.obolibrary.org/obo/UMLS_C1853833", "http://purl.obolibrary.org/obo/UMLS_C2751533", "http://purl.obolibrary.org/obo/DOID_0060369"], "synonym_eng": ["PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6", "autosomal recessive early-onset Parkinson disease type 6", "Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1", "early-onset Parkinson disease 6", "Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1-Dj1", "PARK6", "Parkinson Disease 6, Late-Onset, Susceptibility to", "Parkinson Disease 6, Early-Onset"], "synonym_kw": ["PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6", "autosomal recessive early-onset Parkinson disease type 6", "Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1", "early-onset Parkinson disease 6", "Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1-Dj1", "PARK6", "Parkinson Disease 6, Late-Onset, Susceptibility to", "Parkinson Disease 6, Early-Onset"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/MESH_C565276", "http://purl.obolibrary.org/obo/UMLS_C1853833", "http://purl.obolibrary.org/obo/UMLS_C2751533", "http://purl.obolibrary.org/obo/DOID_0060369"], "iri": "http://purl.obolibrary.org/obo/OMIM_605909", "_version_": 1564148009839624192, "label_eng": ["autosomal recessive early-onset Parkinson disease 6"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/MESH_C565276", "http://purl.obolibrary.org/obo/UMLS_C1853833", "http://purl.obolibrary.org/obo/UMLS_C2751533", "http://purl.obolibrary.org/obo/DOID_0060369"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_605909", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_605909", "category_kw": ["disease"], "definition_std": ["A Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12."], "id_eng": "OMIM:605909", "definition_kw": ["A Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12."], "category_eng": ["disease"], "equivalent_curie_kw": ["MESH:C565276", "UMLS:C1853833", "UMLS:C2751533", "DOID:0060369"], "label_kw": ["autosomal recessive early-onset Parkinson disease 6"], "synonym": ["PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6", "autosomal recessive early-onset Parkinson disease type 6", "Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1", "early-onset Parkinson disease 6", "Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1-Dj1", "PARK6", "Parkinson Disease 6, Late-Onset, Susceptibility to", "Parkinson Disease 6, Early-Onset"], "score": 30.222185, "id_std": "OMIM:605909", "equivalent_curie_std": ["MESH:C565276", "UMLS:C1853833", "UMLS:C2751533", "DOID:0060369"], "id": "OMIM:605909", "equivalent_iri": ["http://purl.obolibrary.org/obo/MESH_C565276", "http://purl.obolibrary.org/obo/UMLS_C1853833", "http://purl.obolibrary.org/obo/UMLS_C2751533", "http://purl.obolibrary.org/obo/DOID_0060369"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_605909", "id_kw": "OMIM:605909", "leaf": true, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["A Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12."], "equivalent_curie_eng": ["MESH:C565276", "UMLS:C1853833", "UMLS:C2751533", "DOID:0060369"], "label": ["autosomal recessive early-onset Parkinson disease 6"], "label_std": ["autosomal recessive early-onset Parkinson disease 6"], "definition": ["A Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12."], "synonym_std": ["PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6", "autosomal recessive early-onset Parkinson disease type 6", "Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1", "early-onset Parkinson disease 6", "Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1-Dj1", "PARK6", "Parkinson Disease 6, Late-Onset, Susceptibility to", "Parkinson Disease 6, Early-Onset"], "equivalent_curie": ["MESH:C565276", "UMLS:C1853833", "UMLS:C2751533", "DOID:0060369"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C0043202", "http://purl.obolibrary.org/obo/UMLS_C0392470", "http://purl.obolibrary.org/obo/DOID_384", "http://purl.obolibrary.org/obo/MESH_D014927"], "synonym_eng": ["Syndrome, Wolf-Parkinson-White", "Anomalous Ventricular Excitation Syndrome", "Wolff Parkinson White Syndrome", "Preexcitation Syndrome", "WOLFF-PARKINSON-WHITE SYNDROME", "Syndrome, WPW", "Accessory Atrioventricular Pathways", "Ventricular Pre-Excitation with Arrhythmia", "Wolff-Parkinson-White pattern (finding)", "WPW Syndrome", "Wpw Syndrome", "Syndrome, Wolff-Parkinson-White", "anomalous atrioventricular excitation", "Anomalous A-V excitation", "Wolf Parkinson White Syndrome", "Wolf-Parkinson-White Syndrome", "Auriculoventricular Accessory Pathway Syndrome", "False Bundle-Branch Block Syndrome"], "synonym_kw": ["Syndrome, Wolf-Parkinson-White", "Anomalous Ventricular Excitation Syndrome", "Wolff Parkinson White Syndrome", "Preexcitation Syndrome", "WOLFF-PARKINSON-WHITE SYNDROME", "Syndrome, WPW", "Accessory Atrioventricular Pathways", "Ventricular Pre-Excitation with Arrhythmia", "Wolff-Parkinson-White pattern (finding)", "WPW Syndrome", "Wpw Syndrome", "Syndrome, Wolff-Parkinson-White", "anomalous atrioventricular excitation", "Anomalous A-V excitation", "Wolf Parkinson White Syndrome", "Wolf-Parkinson-White Syndrome", "Auriculoventricular Accessory Pathway Syndrome", "False Bundle-Branch Block Syndrome"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C0043202", "http://purl.obolibrary.org/obo/UMLS_C0392470", "http://purl.obolibrary.org/obo/DOID_384", "http://purl.obolibrary.org/obo/MESH_D014927"], "iri": "http://purl.obolibrary.org/obo/OMIM_194200", "_version_": 1564147986111397888, "label_eng": ["Wolff-Parkinson-White syndrome"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C0043202", "http://purl.obolibrary.org/obo/UMLS_C0392470", "http://purl.obolibrary.org/obo/DOID_384", "http://purl.obolibrary.org/obo/MESH_D014927"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_194200", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_194200", "category_kw": ["disease"], "definition_std": ["A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase."], "id_eng": "OMIM:194200", "definition_kw": ["A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase."], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C0043202", "UMLS:C0392470", "DOID:384", "MESH:D014927"], "label_kw": ["Wolff-Parkinson-White syndrome"], "synonym": ["Syndrome, Wolf-Parkinson-White", "Anomalous Ventricular Excitation Syndrome", "Wolff Parkinson White Syndrome", "Preexcitation Syndrome", "WOLFF-PARKINSON-WHITE SYNDROME", "Syndrome, WPW", "Accessory Atrioventricular Pathways", "Ventricular Pre-Excitation with Arrhythmia", "Wolff-Parkinson-White pattern (finding)", "WPW Syndrome", "Wpw Syndrome", "Syndrome, Wolff-Parkinson-White", "anomalous atrioventricular excitation", "Anomalous A-V excitation", "Wolf Parkinson White Syndrome", "Wolf-Parkinson-White Syndrome", "Auriculoventricular Accessory Pathway Syndrome", "False Bundle-Branch Block Syndrome"], "score": 30.222185, "id_std": "OMIM:194200", "equivalent_curie_std": ["UMLS:C0043202", "UMLS:C0392470", "DOID:384", "MESH:D014927"], "id": "OMIM:194200", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C0043202", "http://purl.obolibrary.org/obo/UMLS_C0392470", "http://purl.obolibrary.org/obo/DOID_384", "http://purl.obolibrary.org/obo/MESH_D014927"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_194200", "id_kw": "OMIM:194200", "leaf": true, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase."], "equivalent_curie_eng": ["UMLS:C0043202", "UMLS:C0392470", "DOID:384", "MESH:D014927"], "label": ["Wolff-Parkinson-White syndrome"], "label_std": ["Wolff-Parkinson-White syndrome"], "definition": ["A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase."], "synonym_std": ["Syndrome, Wolf-Parkinson-White", "Anomalous Ventricular Excitation Syndrome", "Wolff Parkinson White Syndrome", "Preexcitation Syndrome", "WOLFF-PARKINSON-WHITE SYNDROME", "Syndrome, WPW", "Accessory Atrioventricular Pathways", "Ventricular Pre-Excitation with Arrhythmia", "Wolff-Parkinson-White pattern (finding)", "WPW Syndrome", "Wpw Syndrome", "Syndrome, Wolff-Parkinson-White", "anomalous atrioventricular excitation", "Anomalous A-V excitation", "Wolf Parkinson White Syndrome", "Wolf-Parkinson-White Syndrome", "Auriculoventricular Accessory Pathway Syndrome", "False Bundle-Branch Block Syndrome"], "equivalent_curie": ["UMLS:C0043202", "UMLS:C0392470", "DOID:384", "MESH:D014927"]}, {"taxon_eng": "NCBITaxon:9031", "taxon_label_synonym": ["chickens", "chicken", "bantam", "Gallus domesticus", "Gallus gallus domesticus"], "taxon_std": "NCBITaxon:9031", "equivalent_curie": ["ENSEMBL:ENSGALG00000035676"], "taxon_label_eng": "Gallus gallus", "synonym_kw": ["Parkinson disease 7 domain-containing protein 1", "Parkinson disease 7 domain containing 1"], "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSGALG00000035676"], "iri": "http://www.ncbi.nlm.nih.gov/gene/423020", "_version_": 1564148072211021824, "label_eng": ["PDDC1"], "taxon_kw": "NCBITaxon:9031", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/423020", "taxon_label_kw": "Gallus gallus", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/423020", "category_kw": ["gene"], "taxon_label_synonym_std": ["chickens", "chicken", "bantam", "Gallus domesticus", "Gallus gallus domesticus"], "synonym_eng": ["Parkinson disease 7 domain-containing protein 1", "Parkinson disease 7 domain containing 1"], "id_kw": "NCBIGene:423020", "id_eng": "NCBIGene:423020", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["ENSEMBL:ENSGALG00000035676"], "label_kw": ["PDDC1"], "synonym": ["Parkinson disease 7 domain-containing protein 1", "Parkinson disease 7 domain containing 1"], "score": 29.622284, "id_std": "NCBIGene:423020", "equivalent_curie_std": ["ENSEMBL:ENSGALG00000035676"], "id": "NCBIGene:423020", "equivalent_iri": ["http://identifiers.org/ensembl/ENSGALG00000035676"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/423020", "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSGALG00000035676"], "taxon": "NCBITaxon:9031", "leaf": true, "taxon_label_synonym_kw": ["chickens", "chicken", "bantam", "Gallus domesticus", "Gallus gallus domesticus"], "category_std": ["gene"], "equivalent_curie_eng": ["ENSEMBL:ENSGALG00000035676"], "label": ["PDDC1"], "taxon_label_std": "Gallus gallus", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSGALG00000035676"], "label_std": ["PDDC1"], "synonym_std": ["Parkinson disease 7 domain-containing protein 1", "Parkinson disease 7 domain containing 1"], "taxon_label_synonym_eng": ["chickens", "chicken", "bantam", "Gallus domesticus", "Gallus gallus domesticus"], "taxon_label": "Gallus gallus"}, {"taxon_eng": "NCBITaxon:9606", "taxon_label_synonym": ["man", "humans", "human"], "taxon_std": "NCBITaxon:9606", "equivalent_curie": ["HGNC:26616", "ENSEMBL:ENSG00000177225"], "taxon_label_eng": "Homo sapiens", "synonym_kw": ["Parkinson disease 7 domain-containing protein 1", "Parkinson disease 7 domain containing 1"], "equivalent_iri_std": ["http://identifiers.org/hgnc/HGNC:26616", "http://identifiers.org/ensembl/ENSG00000177225"], "iri": "http://www.ncbi.nlm.nih.gov/gene/347862", "_version_": 1564148162132705280, "label_eng": ["PDDC1"], "taxon_kw": "NCBITaxon:9606", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/347862", "taxon_label_kw": "Homo sapiens", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/347862", "category_kw": ["gene"], "taxon_label_synonym_std": ["man", "humans", "human"], "synonym_eng": ["Parkinson disease 7 domain-containing protein 1", "Parkinson disease 7 domain containing 1"], "id_kw": "NCBIGene:347862", "id_eng": "NCBIGene:347862", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["HGNC:26616", "ENSEMBL:ENSG00000177225"], "label_kw": ["PDDC1"], "synonym": ["Parkinson disease 7 domain-containing protein 1", "Parkinson disease 7 domain containing 1"], "score": 29.622284, "id_std": "NCBIGene:347862", "equivalent_curie_std": ["HGNC:26616", "ENSEMBL:ENSG00000177225"], "id": "NCBIGene:347862", "equivalent_iri": ["http://identifiers.org/hgnc/HGNC:26616", "http://identifiers.org/ensembl/ENSG00000177225"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/347862", "equivalent_iri_kw": ["http://identifiers.org/hgnc/HGNC:26616", "http://identifiers.org/ensembl/ENSG00000177225"], "taxon": "NCBITaxon:9606", "leaf": true, "taxon_label_synonym_kw": ["man", "humans", "human"], "category_std": ["gene"], "equivalent_curie_eng": ["HGNC:26616", "ENSEMBL:ENSG00000177225"], "label": ["PDDC1"], "taxon_label_std": "Homo sapiens", "equivalent_iri_eng": ["http://identifiers.org/hgnc/HGNC:26616", "http://identifiers.org/ensembl/ENSG00000177225"], "label_std": ["PDDC1"], "synonym_std": ["Parkinson disease 7 domain-containing protein 1", "Parkinson disease 7 domain containing 1"], "taxon_label_synonym_eng": ["man", "humans", "human"], "taxon_label": "Homo sapiens"}, {"taxon_eng": "NCBITaxon:8364", "taxon_label_synonym": ["Silurana (Xenopus) tropicalis", "tropical clawed frog", "western clawed frog", "Xenopus laevis tropicalis", "Xenopus (Silurana) tropicalis", "Silurana tropicalis"], "taxon_std": "NCBITaxon:8364", "equivalent_curie": ["Xenbase:XB-GENE-1005352"], "taxon_label_eng": "Xenopus tropicalis", "synonym_kw": ["Parkinson disease 7 domain-containing protein 1", "Parkinson disease 7 domain containing 1"], "equivalent_iri_std": ["http://identifiers.org/xenbase/XB-GENE-1005352"], "iri": "http://www.ncbi.nlm.nih.gov/gene/100486045", "_version_": 1564148270290173952, "label_eng": ["pddc1"], "taxon_kw": "NCBITaxon:8364", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/100486045", "taxon_label_kw": "Xenopus tropicalis", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/100486045", "category_kw": ["gene"], "taxon_label_synonym_std": ["Silurana (Xenopus) tropicalis", "tropical clawed frog", "western clawed frog", "Xenopus laevis tropicalis", "Xenopus (Silurana) tropicalis", "Silurana tropicalis"], "synonym_eng": ["Parkinson disease 7 domain-containing protein 1", "Parkinson disease 7 domain containing 1"], "id_kw": "NCBIGene:100486045", "id_eng": "NCBIGene:100486045", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["Xenbase:XB-GENE-1005352"], "label_kw": ["pddc1"], "synonym": ["Parkinson disease 7 domain-containing protein 1", "Parkinson disease 7 domain containing 1"], "score": 29.622284, "id_std": "NCBIGene:100486045", "equivalent_curie_std": ["Xenbase:XB-GENE-1005352"], "id": "NCBIGene:100486045", "equivalent_iri": ["http://identifiers.org/xenbase/XB-GENE-1005352"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/100486045", "equivalent_iri_kw": ["http://identifiers.org/xenbase/XB-GENE-1005352"], "taxon": "NCBITaxon:8364", "leaf": true, "taxon_label_synonym_kw": ["Silurana (Xenopus) tropicalis", "tropical clawed frog", "western clawed frog", "Xenopus laevis tropicalis", "Xenopus (Silurana) tropicalis", "Silurana tropicalis"], "category_std": ["gene"], "equivalent_curie_eng": ["Xenbase:XB-GENE-1005352"], "label": ["pddc1"], "taxon_label_std": "Xenopus tropicalis", "equivalent_iri_eng": ["http://identifiers.org/xenbase/XB-GENE-1005352"], "label_std": ["pddc1"], "synonym_std": ["Parkinson disease 7 domain-containing protein 1", "Parkinson disease 7 domain containing 1"], "taxon_label_synonym_eng": ["Silurana (Xenopus) tropicalis", "tropical clawed frog", "western clawed frog", "Xenopus laevis tropicalis", "Xenopus (Silurana) tropicalis", "Silurana tropicalis"], "taxon_label": "Xenopus tropicalis"}, {"synonym_eng": ["Parkinsonian disease"], "synonym_kw": ["Parkinsonian disease"], "iri": "http://purl.obolibrary.org/obo/HP_0001300", "label_eng": ["Parkinsonism"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0001300", "iri_eng": "http://purl.obolibrary.org/obo/HP_0001300", "category_kw": ["Phenotype"], "definition_std": ["Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait."], "id_eng": "HP:0001300", "definition_kw": ["Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait."], "category_eng": ["Phenotype"], "_version_": 1564148006144442370, "label_kw": ["Parkinsonism"], "synonym": ["Parkinsonian disease"], "score": 29.451052, "id_std": "HP:0001300", "id": "HP:0001300", "iri_std": "http://purl.obolibrary.org/obo/HP_0001300", "id_kw": "HP:0001300", "leaf": false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait."], "label": ["Parkinsonism"], "label_std": ["Parkinsonism"], "definition": ["Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait."], "synonym_std": ["Parkinsonian disease"]}, {"equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_178509", "http://purl.obolibrary.org/obo/UMLS_C1868594", "http://purl.obolibrary.org/obo/DOID_0060486", "http://purl.obolibrary.org/obo/MESH_C566822"], "synonym_eng": ["Parkinsonism with alveolar hypoventilation and mental depression", "parkinsonism with alveolar hypoventilation and mental depression", "PERRY SYNDROME", "Parkinsonism With Alveolar Hypoventilation and Mental Depression", "Parkinsonism with Alveolar Hypoventilation and Mental Depression"], "synonym_kw": ["Parkinsonism with alveolar hypoventilation and mental depression", "parkinsonism with alveolar hypoventilation and mental depression", "PERRY SYNDROME", "Parkinsonism With Alveolar Hypoventilation and Mental Depression", "Parkinsonism with Alveolar Hypoventilation and Mental Depression"], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_178509", "http://purl.obolibrary.org/obo/UMLS_C1868594", "http://purl.obolibrary.org/obo/DOID_0060486", "http://purl.obolibrary.org/obo/MESH_C566822"], "iri": "http://purl.obolibrary.org/obo/OMIM_168605", "_version_": 1564148005231132673, "label_eng": ["Perry syndrome"], "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_178509", "http://purl.obolibrary.org/obo/UMLS_C1868594", "http://purl.obolibrary.org/obo/DOID_0060486", "http://purl.obolibrary.org/obo/MESH_C566822"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_168605", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_168605", "category_kw": ["disease"], "definition_std": ["Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression."], "id_eng": "OMIM:168605", "definition_kw": ["Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression."], "category_eng": ["disease"], "equivalent_curie_kw": ["Orphanet:178509", "UMLS:C1868594", "DOID:0060486", "MESH:C566822"], "label_kw": ["Perry syndrome"], "synonym": ["Parkinsonism with alveolar hypoventilation and mental depression", "parkinsonism with alveolar hypoventilation and mental depression", "PERRY SYNDROME", "Parkinsonism With Alveolar Hypoventilation and Mental Depression", "Parkinsonism with Alveolar Hypoventilation and Mental Depression"], "score": 28.938042, "id_std": "OMIM:168605", "equivalent_curie_std": ["Orphanet:178509", "UMLS:C1868594", "DOID:0060486", "MESH:C566822"], "id": "OMIM:168605", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_178509", "http://purl.obolibrary.org/obo/UMLS_C1868594", "http://purl.obolibrary.org/obo/DOID_0060486", "http://purl.obolibrary.org/obo/MESH_C566822"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_168605", "id_kw": "OMIM:168605", "leaf": true, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression."], "equivalent_curie_eng": ["Orphanet:178509", "UMLS:C1868594", "DOID:0060486", "MESH:C566822"], "label": ["Perry syndrome"], "label_std": ["Perry syndrome"], "definition": ["Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression."], "synonym_std": ["Parkinsonism with alveolar hypoventilation and mental depression", "parkinsonism with alveolar hypoventilation and mental depression", "PERRY SYNDROME", "Parkinsonism With Alveolar Hypoventilation and Mental Depression", "Parkinsonism with Alveolar Hypoventilation and Mental Depression"], "equivalent_curie": ["Orphanet:178509", "UMLS:C1868594", "DOID:0060486", "MESH:C566822"]}, {"taxon_eng": "NCBITaxon:9606", "taxon_label_synonym": ["man", "humans", "human"], "taxon_std": "NCBITaxon:9606", "equivalent_curie": ["OMIM:602544", "ENSEMBL:ENSG00000185345", "HGNC:8607"], "taxon_label_eng": "Homo sapiens", "synonym_kw": ["PRKN", "Parkinson disease (autosomal recessive, juvenile) 2, parkin", "PDJ", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "LPRS2", "parkin RBR E3 ubiquitin protein ligase", "AR-JP", "E3 ubiquitin-protein ligase parkin", "PARK2", "parkinson juvenile disease protein 2", "parkinson protein 2 E3 ubiquitin protein ligase"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/OMIM_602544", "http://identifiers.org/ensembl/ENSG00000185345", "http://identifiers.org/hgnc/HGNC:8607"], "iri": "http://www.ncbi.nlm.nih.gov/gene/5071", "_version_": 1564148282111819776, "label_eng": ["PRKN"], "taxon_kw": "NCBITaxon:9606", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/5071", "taxon_label_kw": "Homo sapiens", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/5071", "category_kw": ["gene"], "taxon_label_synonym_std": ["man", "humans", "human"], "synonym_eng": ["PRKN", "Parkinson disease (autosomal recessive, juvenile) 2, parkin", "PDJ", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "LPRS2", "parkin RBR E3 ubiquitin protein ligase", "AR-JP", "E3 ubiquitin-protein ligase parkin", "PARK2", "parkinson juvenile disease protein 2", "parkinson protein 2 E3 ubiquitin protein ligase"], "id_kw": "NCBIGene:5071", "id_eng": "NCBIGene:5071", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["OMIM:602544", "ENSEMBL:ENSG00000185345", "HGNC:8607"], "label_kw": ["PRKN"], "synonym": ["PRKN", "Parkinson disease (autosomal recessive, juvenile) 2, parkin", "PDJ", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "LPRS2", "parkin RBR E3 ubiquitin protein ligase", "AR-JP", "E3 ubiquitin-protein ligase parkin", "PARK2", "parkinson juvenile disease protein 2", "parkinson protein 2 E3 ubiquitin protein ligase"], "score": 28.938042, "id_std": "NCBIGene:5071", "equivalent_curie_std": ["OMIM:602544", "ENSEMBL:ENSG00000185345", "HGNC:8607"], "id": "NCBIGene:5071", "equivalent_iri": ["http://purl.obolibrary.org/obo/OMIM_602544", "http://identifiers.org/ensembl/ENSG00000185345", "http://identifiers.org/hgnc/HGNC:8607"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/5071", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/OMIM_602544", "http://identifiers.org/ensembl/ENSG00000185345", "http://identifiers.org/hgnc/HGNC:8607"], "taxon": "NCBITaxon:9606", "leaf": true, "taxon_label_synonym_kw": ["man", "humans", "human"], "category_std": ["gene"], "equivalent_curie_eng": ["OMIM:602544", "ENSEMBL:ENSG00000185345", "HGNC:8607"], "label": ["PRKN"], "taxon_label_std": "Homo sapiens", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/OMIM_602544", "http://identifiers.org/ensembl/ENSG00000185345", "http://identifiers.org/hgnc/HGNC:8607"], "label_std": ["PRKN"], "synonym_std": ["PRKN", "Parkinson disease (autosomal recessive, juvenile) 2, parkin", "PDJ", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "LPRS2", "parkin RBR E3 ubiquitin protein ligase", "AR-JP", "E3 ubiquitin-protein ligase parkin", "PARK2", "parkinson juvenile disease protein 2", "parkinson protein 2 E3 ubiquitin protein ligase"], "taxon_label_synonym_eng": ["man", "humans", "human"], "taxon_label": "Homo sapiens"}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C1868681", "http://www.orpha.net/ORDO/Orphanet_71517", "http://purl.obolibrary.org/obo/DOID_0090056", "http://purl.obolibrary.org/obo/MESH_C538001"], "synonym_eng": ["dystonia type 12", "DYSTONIA 12; DYT12", "Rapid-onset dystonia-parkinsonism", "Dyt12", "DYT12", "Dystonia-Parkinsonism, Rapid-Onset", "Rapid-Onset Dystonia Parkinsonism", "Dystonia type 12", "Dystonia 12"], "synonym_kw": ["dystonia type 12", "DYSTONIA 12; DYT12", "Rapid-onset dystonia-parkinsonism", "Dyt12", "DYT12", "Dystonia-Parkinsonism, Rapid-Onset", "Rapid-Onset Dystonia Parkinsonism", "Dystonia type 12", "Dystonia 12"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C1868681", "http://www.orpha.net/ORDO/Orphanet_71517", "http://purl.obolibrary.org/obo/DOID_0090056", "http://purl.obolibrary.org/obo/MESH_C538001"], "iri": "http://purl.obolibrary.org/obo/OMIM_128235", "_version_": 1564147980775194624, "label_eng": ["dystonia 12"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C1868681", "http://www.orpha.net/ORDO/Orphanet_71517", "http://purl.obolibrary.org/obo/DOID_0090056", "http://purl.obolibrary.org/obo/MESH_C538001"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_128235", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_128235", "category_kw": ["disease"], "definition_std": ["Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress."], "id_eng": "OMIM:128235", "definition_kw": ["Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress."], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C1868681", "Orphanet:71517", "DOID:0090056", "MESH:C538001"], "label_kw": ["dystonia 12"], "synonym": ["dystonia type 12", "DYSTONIA 12; DYT12", "Rapid-onset dystonia-parkinsonism", "Dyt12", "DYT12", "Dystonia-Parkinsonism, Rapid-Onset", "Rapid-Onset Dystonia Parkinsonism", "Dystonia type 12", "Dystonia 12"], "score": 28.725698, "id_std": "OMIM:128235", "equivalent_curie_std": ["UMLS:C1868681", "Orphanet:71517", "DOID:0090056", "MESH:C538001"], "id": "OMIM:128235", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C1868681", "http://www.orpha.net/ORDO/Orphanet_71517", "http://purl.obolibrary.org/obo/DOID_0090056", "http://purl.obolibrary.org/obo/MESH_C538001"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_128235", "id_kw": "OMIM:128235", "leaf": true, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress."], "equivalent_curie_eng": ["UMLS:C1868681", "Orphanet:71517", "DOID:0090056", "MESH:C538001"], "label": ["dystonia 12"], "label_std": ["dystonia 12"], "definition": ["Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress."], "synonym_std": ["dystonia type 12", "DYSTONIA 12; DYT12", "Rapid-onset dystonia-parkinsonism", "Dyt12", "DYT12", "Dystonia-Parkinsonism, Rapid-Onset", "Rapid-Onset Dystonia Parkinsonism", "Dystonia type 12", "Dystonia 12"], "equivalent_curie": ["UMLS:C1868681", "Orphanet:71517", "DOID:0090056", "MESH:C538001"]}, {"taxon_eng": "NCBITaxon:7955", "taxon_label_synonym": ["zebra fish", "Danio rerio (Hamilton, 1822)", "Brachydanio rerio", "leopard danio", "Cyprinus rerio", "Brachidanio rerio", "zebra danio", "zebrafish", "Danio frankei", "Brachydanio rerio frankei", "Danio rerio frankei", "Cyprinus rerio Hamilton, 1822"], "taxon_std": "NCBITaxon:7955", "equivalent_curie": ["ZFIN:ZDB-GENE-041010-5", "ENSEMBL:ENSDARG00000034826"], "taxon_label_eng": "Danio rerio", "synonym_kw": ["protein DJ-1", "parkinson disease (autosomal recessive, early onset) 7", "zDJ-1", "DJ-1 protein", "parkinson protein 7", "parkinson disease protein 7 homolog", "protein deglycase DJ-1zDJ-1", "zgc:103725", "dj1"], "equivalent_iri_std": ["http://zfin.org/ZDB-GENE-041010-5", "http://identifiers.org/ensembl/ENSDARG00000034826"], "iri": "http://www.ncbi.nlm.nih.gov/gene/449674", "_version_": 1564148060836069377, "label_eng": ["park7"], "taxon_kw": "NCBITaxon:7955", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/449674", "taxon_label_kw": "Danio rerio", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/449674", "category_kw": ["gene"], "taxon_label_synonym_std": ["zebra fish", "Danio rerio (Hamilton, 1822)", "Brachydanio rerio", "leopard danio", "Cyprinus rerio", "Brachidanio rerio", "zebra danio", "zebrafish", "Danio frankei", "Brachydanio rerio frankei", "Danio rerio frankei", "Cyprinus rerio Hamilton, 1822"], "synonym_eng": ["protein DJ-1", "parkinson disease (autosomal recessive, early onset) 7", "zDJ-1", "DJ-1 protein", "parkinson protein 7", "parkinson disease protein 7 homolog", "protein deglycase DJ-1zDJ-1", "zgc:103725", "dj1"], "id_kw": "NCBIGene:449674", "id_eng": "NCBIGene:449674", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["ZFIN:ZDB-GENE-041010-5", "ENSEMBL:ENSDARG00000034826"], "label_kw": ["park7"], "synonym": ["protein DJ-1", "parkinson disease (autosomal recessive, early onset) 7", "zDJ-1", "DJ-1 protein", "parkinson protein 7", "parkinson disease protein 7 homolog", "protein deglycase DJ-1zDJ-1", "zgc:103725", "dj1"], "score": 28.725698, "id_std": "NCBIGene:449674", "equivalent_curie_std": ["ZFIN:ZDB-GENE-041010-5", "ENSEMBL:ENSDARG00000034826"], "id": "NCBIGene:449674", "equivalent_iri": ["http://zfin.org/ZDB-GENE-041010-5", "http://identifiers.org/ensembl/ENSDARG00000034826"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/449674", "equivalent_iri_kw": ["http://zfin.org/ZDB-GENE-041010-5", "http://identifiers.org/ensembl/ENSDARG00000034826"], "taxon": "NCBITaxon:7955", "leaf": true, "taxon_label_synonym_kw": ["zebra fish", "Danio rerio (Hamilton, 1822)", "Brachydanio rerio", "leopard danio", "Cyprinus rerio", "Brachidanio rerio", "zebra danio", "zebrafish", "Danio frankei", "Brachydanio rerio frankei", "Danio rerio frankei", "Cyprinus rerio Hamilton, 1822"], "category_std": ["gene"], "equivalent_curie_eng": ["ZFIN:ZDB-GENE-041010-5", "ENSEMBL:ENSDARG00000034826"], "label": ["park7"], "taxon_label_std": "Danio rerio", "equivalent_iri_eng": ["http://zfin.org/ZDB-GENE-041010-5", "http://identifiers.org/ensembl/ENSDARG00000034826"], "label_std": ["park7"], "synonym_std": ["protein DJ-1", "parkinson disease (autosomal recessive, early onset) 7", "zDJ-1", "DJ-1 protein", "parkinson protein 7", "parkinson disease protein 7 homolog", "protein deglycase DJ-1zDJ-1", "zgc:103725", "dj1"], "taxon_label_synonym_eng": ["zebra fish", "Danio rerio (Hamilton, 1822)", "Brachydanio rerio", "leopard danio", "Cyprinus rerio", "Brachidanio rerio", "zebra danio", "zebrafish", "Danio frankei", "Brachydanio rerio frankei", "Danio rerio frankei", "Cyprinus rerio Hamilton, 1822"], "taxon_label": "Danio rerio"}, {"taxon_eng": "NCBITaxon:9606", "taxon_label_synonym": ["man", "humans", "human"], "taxon_std": "NCBITaxon:9606", "equivalent_curie": ["HGNC:16369", "OMIM:602533", "ENSEMBL:ENSG00000116288"], "taxon_label_eng": "Homo sapiens", "synonym_kw": ["protein DJ-1", "protein deglycase DJ-1", "Parkinsonism associated deglycase", "Parkinson disease (autosomal recessive, early onset) 7", "epididymis secretory sperm binding protein Li 67p", "parkinson protein 7", "DJ1", "DJ-1", "oncogene DJ1", "PARK7", "HEL-S-67p"], "equivalent_iri_std": ["http://identifiers.org/hgnc/HGNC:16369", "http://purl.obolibrary.org/obo/OMIM_602533", "http://identifiers.org/ensembl/ENSG00000116288"], "iri": "http://www.ncbi.nlm.nih.gov/gene/11315", "_version_": 1564148147889897473, "label_eng": ["PARK7"], "taxon_kw": "NCBITaxon:9606", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/11315", "taxon_label_kw": "Homo sapiens", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/11315", "category_kw": ["gene"], "taxon_label_synonym_std": ["man", "humans", "human"], "synonym_eng": ["protein DJ-1", "protein deglycase DJ-1", "Parkinsonism associated deglycase", "Parkinson disease (autosomal recessive, early onset) 7", "epididymis secretory sperm binding protein Li 67p", "parkinson protein 7", "DJ1", "DJ-1", "oncogene DJ1", "PARK7", "HEL-S-67p"], "id_kw": "NCBIGene:11315", "id_eng": "NCBIGene:11315", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["HGNC:16369", "OMIM:602533", "ENSEMBL:ENSG00000116288"], "label_kw": ["PARK7"], "synonym": ["protein DJ-1", "protein deglycase DJ-1", "Parkinsonism associated deglycase", "Parkinson disease (autosomal recessive, early onset) 7", "epididymis secretory sperm binding protein Li 67p", "parkinson protein 7", "DJ1", "DJ-1", "oncogene DJ1", "PARK7", "HEL-S-67p"], "score": 28.725698, "id_std": "NCBIGene:11315", "equivalent_curie_std": ["HGNC:16369", "OMIM:602533", "ENSEMBL:ENSG00000116288"], "id": "NCBIGene:11315", "equivalent_iri": ["http://identifiers.org/hgnc/HGNC:16369", "http://purl.obolibrary.org/obo/OMIM_602533", "http://identifiers.org/ensembl/ENSG00000116288"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/11315", "equivalent_iri_kw": ["http://identifiers.org/hgnc/HGNC:16369", "http://purl.obolibrary.org/obo/OMIM_602533", "http://identifiers.org/ensembl/ENSG00000116288"], "taxon": "NCBITaxon:9606", "leaf": true, "taxon_label_synonym_kw": ["man", "humans", "human"], "category_std": ["gene"], "equivalent_curie_eng": ["HGNC:16369", "OMIM:602533", "ENSEMBL:ENSG00000116288"], "label": ["PARK7"], "taxon_label_std": "Homo sapiens", "equivalent_iri_eng": ["http://identifiers.org/hgnc/HGNC:16369", "http://purl.obolibrary.org/obo/OMIM_602533", "http://identifiers.org/ensembl/ENSG00000116288"], "label_std": ["PARK7"], "synonym_std": ["protein DJ-1", "protein deglycase DJ-1", "Parkinsonism associated deglycase", "Parkinson disease (autosomal recessive, early onset) 7", "epididymis secretory sperm binding protein Li 67p", "parkinson protein 7", "DJ1", "DJ-1", "oncogene DJ1", "PARK7", "HEL-S-67p"], "taxon_label_synonym_eng": ["man", "humans", "human"], "taxon_label": "Homo sapiens"}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_CN201680", "http://www.orpha.net/ORDO/Orphanet_240085"], "synonym_eng": ["PSP-parkinsonism", "Supranuclear Palsy, Progressive, 1, Atypical", "Steele-Richardson-Olszewski Syndrome, Atypical", "PARKINSON-DEMENTIA SYNDROME", "PSP-p"], "synonym_kw": ["PSP-parkinsonism", "Supranuclear Palsy, Progressive, 1, Atypical", "Steele-Richardson-Olszewski Syndrome, Atypical", "PARKINSON-DEMENTIA SYNDROME", "PSP-p"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_CN201680", "http://www.orpha.net/ORDO/Orphanet_240085"], "iri": "http://purl.obolibrary.org/obo/OMIM_260540", "_version_": 1564148008107376641, "label_eng": ["Progressive supranuclear palsy-parkinsonism syndrome"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_CN201680", "http://www.orpha.net/ORDO/Orphanet_240085"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_260540", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_260540", "category_kw": ["disease"], "definition_std": ["PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease."], "id_eng": "OMIM:260540", "definition_kw": ["PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease."], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:CN201680", "Orphanet:240085"], "label_kw": ["Progressive supranuclear palsy-parkinsonism syndrome"], "synonym": ["PSP-parkinsonism", "Supranuclear Palsy, Progressive, 1, Atypical", "Steele-Richardson-Olszewski Syndrome, Atypical", "PARKINSON-DEMENTIA SYNDROME", "PSP-p"], "score": 28.294563, "id_std": "OMIM:260540", "equivalent_curie_std": ["UMLS:CN201680", "Orphanet:240085"], "id": "OMIM:260540", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_CN201680", "http://www.orpha.net/ORDO/Orphanet_240085"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_260540", "id_kw": "OMIM:260540", "leaf": true, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease."], "equivalent_curie_eng": ["UMLS:CN201680", "Orphanet:240085"], "label": ["Progressive supranuclear palsy-parkinsonism syndrome"], "label_std": ["Progressive supranuclear palsy-parkinsonism syndrome"], "definition": ["PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease."], "synonym_std": ["PSP-parkinsonism", "Supranuclear Palsy, Progressive, 1, Atypical", "Steele-Richardson-Olszewski Syndrome, Atypical", "PARKINSON-DEMENTIA SYNDROME", "PSP-p"], "equivalent_curie": ["UMLS:CN201680", "Orphanet:240085"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/MESH_C565238", "http://purl.obolibrary.org/obo/UMLS_C1853445", "http://purl.obolibrary.org/obo/DOID_0060370"], "synonym_eng": ["autosomal recessive early-onset Parkinson disease type 7", "PARK7", "PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7"], "synonym_kw": ["autosomal recessive early-onset Parkinson disease type 7", "PARK7", "PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/MESH_C565238", "http://purl.obolibrary.org/obo/UMLS_C1853445", "http://purl.obolibrary.org/obo/DOID_0060370"], "iri": "http://purl.obolibrary.org/obo/OMIM_606324", "_version_": 1564148010759225346, "label_eng": ["autosomal recessive early-onset Parkinson disease 7"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/MESH_C565238", "http://purl.obolibrary.org/obo/UMLS_C1853445", "http://purl.obolibrary.org/obo/DOID_0060370"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_606324", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_606324", "category_kw": ["disease"], "definition_std": ["A Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36."], "id_eng": "OMIM:606324", "definition_kw": ["A Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36."], "category_eng": ["disease"], "equivalent_curie_kw": ["MESH:C565238", "UMLS:C1853445", "DOID:0060370"], "label_kw": ["autosomal recessive early-onset Parkinson disease 7"], "synonym": ["autosomal recessive early-onset Parkinson disease type 7", "PARK7", "PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7"], "score": 28.294563, "id_std": "OMIM:606324", "equivalent_curie_std": ["MESH:C565238", "UMLS:C1853445", "DOID:0060370"], "id": "OMIM:606324", "equivalent_iri": ["http://purl.obolibrary.org/obo/MESH_C565238", "http://purl.obolibrary.org/obo/UMLS_C1853445", "http://purl.obolibrary.org/obo/DOID_0060370"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_606324", "id_kw": "OMIM:606324", "leaf": true, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["A Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36."], "equivalent_curie_eng": ["MESH:C565238", "UMLS:C1853445", "DOID:0060370"], "label": ["autosomal recessive early-onset Parkinson disease 7"], "label_std": ["autosomal recessive early-onset Parkinson disease 7"], "definition": ["A Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36."], "synonym_std": ["autosomal recessive early-onset Parkinson disease type 7", "PARK7", "PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7"], "equivalent_curie": ["MESH:C565238", "UMLS:C1853445", "DOID:0060370"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/DOID_0060371"], "synonym_eng": ["PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8", "PARK8", "autosomal dominant Parkinson disease type 8"], "synonym_kw": ["PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8", "PARK8", "autosomal dominant Parkinson disease type 8"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/DOID_0060371"], "iri": "http://purl.obolibrary.org/obo/OMIM_607060", "_version_": 1564148011208015873, "label_eng": ["autosomal dominant Parkinson disease 8"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/DOID_0060371"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_607060", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_607060", "category_kw": ["disease"], "definition_std": ["A Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene (LRRK2) on chromosome 12q12."], "id_eng": "OMIM:607060", "definition_kw": ["A Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene (LRRK2) on chromosome 12q12."], "category_eng": ["disease"], "equivalent_curie_kw": ["DOID:0060371"], "label_kw": ["autosomal dominant Parkinson disease 8"], "synonym": ["PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8", "PARK8", "autosomal dominant Parkinson disease type 8"], "score": 28.294563, "id_std": "OMIM:607060", "equivalent_curie_std": ["DOID:0060371"], "id": "OMIM:607060", "equivalent_iri": ["http://purl.obolibrary.org/obo/DOID_0060371"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_607060", "id_kw": "OMIM:607060", "leaf": true, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["A Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene (LRRK2) on chromosome 12q12."], "equivalent_curie_eng": ["DOID:0060371"], "label": ["autosomal dominant Parkinson disease 8"], "label_std": ["autosomal dominant Parkinson disease 8"], "definition": ["A Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene (LRRK2) on chromosome 12q12."], "synonym_std": ["PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8", "PARK8", "autosomal dominant Parkinson disease type 8"], "equivalent_curie": ["DOID:0060371"]}, {"taxon_eng": "NCBITaxon:7955", "taxon_label_synonym": ["zebra fish", "Danio rerio (Hamilton, 1822)", "Brachydanio rerio", "leopard danio", "Cyprinus rerio", "Brachidanio rerio", "zebra danio", "zebrafish", "Danio frankei", "Brachydanio rerio frankei", "Danio rerio frankei", "Cyprinus rerio Hamilton, 1822"], "taxon_std": "NCBITaxon:7955", "equivalent_curie": ["ENSEMBL:ENSDARG00000053609", "ZFIN:ZDB-GENE-051030-96"], "taxon_label_eng": "Danio rerio", "synonym_kw": ["Parkinson disease 7 domain-containing protein 1", "pddc1", "zgc:123196", "Parkinson disease 7 domain containing 1"], "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSDARG00000053609", "http://zfin.org/ZDB-GENE-051030-96"], "iri": "http://www.ncbi.nlm.nih.gov/gene/100148360", "_version_": 1564148071197048833, "label_eng": ["pddc1"], "taxon_kw": "NCBITaxon:7955", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/100148360", "taxon_label_kw": "Danio rerio", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/100148360", "category_kw": ["gene"], "taxon_label_synonym_std": ["zebra fish", "Danio rerio (Hamilton, 1822)", "Brachydanio rerio", "leopard danio", "Cyprinus rerio", "Brachidanio rerio", "zebra danio", "zebrafish", "Danio frankei", "Brachydanio rerio frankei", "Danio rerio frankei", "Cyprinus rerio Hamilton, 1822"], "synonym_eng": ["Parkinson disease 7 domain-containing protein 1", "pddc1", "zgc:123196", "Parkinson disease 7 domain containing 1"], "id_kw": "NCBIGene:100148360", "id_eng": "NCBIGene:100148360", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["ENSEMBL:ENSDARG00000053609", "ZFIN:ZDB-GENE-051030-96"], "label_kw": ["pddc1"], "synonym": ["Parkinson disease 7 domain-containing protein 1", "pddc1", "zgc:123196", "Parkinson disease 7 domain containing 1"], "score": 28.294563, "id_std": "NCBIGene:100148360", "equivalent_curie_std": ["ENSEMBL:ENSDARG00000053609", "ZFIN:ZDB-GENE-051030-96"], "id": "NCBIGene:100148360", "equivalent_iri": ["http://identifiers.org/ensembl/ENSDARG00000053609", "http://zfin.org/ZDB-GENE-051030-96"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/100148360", "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSDARG00000053609", "http://zfin.org/ZDB-GENE-051030-96"], "taxon": "NCBITaxon:7955", "leaf": true, "taxon_label_synonym_kw": ["zebra fish", "Danio rerio (Hamilton, 1822)", "Brachydanio rerio", "leopard danio", "Cyprinus rerio", "Brachidanio rerio", "zebra danio", "zebrafish", "Danio frankei", "Brachydanio rerio frankei", "Danio rerio frankei", "Cyprinus rerio Hamilton, 1822"], "category_std": ["gene"], "equivalent_curie_eng": ["ENSEMBL:ENSDARG00000053609", "ZFIN:ZDB-GENE-051030-96"], "label": ["pddc1"], "taxon_label_std": "Danio rerio", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSDARG00000053609", "http://zfin.org/ZDB-GENE-051030-96"], "label_std": ["pddc1"], "synonym_std": ["Parkinson disease 7 domain-containing protein 1", "pddc1", "zgc:123196", "Parkinson disease 7 domain containing 1"], "taxon_label_synonym_eng": ["zebra fish", "Danio rerio (Hamilton, 1822)", "Brachydanio rerio", "leopard danio", "Cyprinus rerio", "Brachidanio rerio", "zebra danio", "zebrafish", "Danio frankei", "Brachydanio rerio frankei", "Danio rerio frankei", "Cyprinus rerio Hamilton, 1822"], "taxon_label": "Danio rerio"}, {"taxon_eng": "NCBITaxon:9913", "taxon_label_synonym": ["Bos bovis", "Bos Tauurus", "domestic cattle", "domestic cow", "bovine", "cattle", "cow", "Bos primigenius taurus"], "taxon_std": "NCBITaxon:9913", "equivalent_curie": ["ENSEMBL:ENSBTAG00000020518"], "taxon_label_eng": "Bos taurus", "synonym_kw": ["protein DJ-1", "protein deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7", "parkinson disease protein 7 homolog", "DJ1", "DJ-1"], "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSBTAG00000020518"], "iri": "http://www.ncbi.nlm.nih.gov/gene/511268", "_version_": 1564148127209881601, "label_eng": ["PARK7"], "taxon_kw": "NCBITaxon:9913", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/511268", "taxon_label_kw": "Bos taurus", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/511268", "category_kw": ["gene"], "taxon_label_synonym_std": ["Bos bovis", "Bos Tauurus", "domestic cattle", "domestic cow", "bovine", "cattle", "cow", "Bos primigenius taurus"], "synonym_eng": ["protein DJ-1", "protein deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7", "parkinson disease protein 7 homolog", "DJ1", "DJ-1"], "id_kw": "NCBIGene:511268", "id_eng": "NCBIGene:511268", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["ENSEMBL:ENSBTAG00000020518"], "label_kw": ["PARK7"], "synonym": ["protein DJ-1", "protein deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7", "parkinson disease protein 7 homolog", "DJ1", "DJ-1"], "score": 28.294563, "id_std": "NCBIGene:511268", "equivalent_curie_std": ["ENSEMBL:ENSBTAG00000020518"], "id": "NCBIGene:511268", "equivalent_iri": ["http://identifiers.org/ensembl/ENSBTAG00000020518"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/511268", "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSBTAG00000020518"], "taxon": "NCBITaxon:9913", "leaf": true, "taxon_label_synonym_kw": ["Bos bovis", "Bos Tauurus", "domestic cattle", "domestic cow", "bovine", "cattle", "cow", "Bos primigenius taurus"], "category_std": ["gene"], "equivalent_curie_eng": ["ENSEMBL:ENSBTAG00000020518"], "label": ["PARK7"], "taxon_label_std": "Bos taurus", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSBTAG00000020518"], "label_std": ["PARK7"], "synonym_std": ["protein DJ-1", "protein deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7", "parkinson disease protein 7 homolog", "DJ1", "DJ-1"], "taxon_label_synonym_eng": ["Bos bovis", "Bos Tauurus", "domestic cattle", "domestic cow", "bovine", "cattle", "cow", "Bos primigenius taurus"], "taxon_label": "Bos taurus"}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/MESH_C562469", "http://purl.obolibrary.org/obo/UMLS_C0238344"], "synonym_eng": ["Parkinson Disease, Juvenile, of Hunt", "PARALYSIS AGITANS, JUVENILE, OF HUNT", "Parkinson Disease, Juvenile, Of Hunt"], "synonym_kw": ["Parkinson Disease, Juvenile, of Hunt", "PARALYSIS AGITANS, JUVENILE, OF HUNT", "Parkinson Disease, Juvenile, Of Hunt"], "iri": "http://purl.obolibrary.org/obo/OMIM_168100", "_version_": 1564148005309775875, "label_eng": ["Paralysis Agitans, Juvenile, of Hunt"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/MESH_C562469", "http://purl.obolibrary.org/obo/UMLS_C0238344"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_168100", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_168100", "category_kw": ["disease"], "id_eng": "OMIM:168100", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/MESH_C562469", "http://purl.obolibrary.org/obo/UMLS_C0238344"], "category_eng": ["disease"], "equivalent_curie_kw": ["MESH:C562469", "UMLS:C0238344"], "label_kw": ["Paralysis Agitans, Juvenile, of Hunt"], "synonym": ["Parkinson Disease, Juvenile, of Hunt", "PARALYSIS AGITANS, JUVENILE, OF HUNT", "Parkinson Disease, Juvenile, Of Hunt"], "score": 28.294563, "id_std": "OMIM:168100", "equivalent_curie_std": ["MESH:C562469", "UMLS:C0238344"], "id": "OMIM:168100", "equivalent_iri": ["http://purl.obolibrary.org/obo/MESH_C562469", "http://purl.obolibrary.org/obo/UMLS_C0238344"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_168100", "id_kw": "OMIM:168100", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["MESH:C562469", "UMLS:C0238344"], "label": ["Paralysis Agitans, Juvenile, of Hunt"], "label_std": ["Paralysis Agitans, Juvenile, of Hunt"], "synonym_std": ["Parkinson Disease, Juvenile, of Hunt", "PARALYSIS AGITANS, JUVENILE, OF HUNT", "Parkinson Disease, Juvenile, Of Hunt"], "equivalent_curie": ["MESH:C562469", "UMLS:C0238344"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3809824", "http://purl.obolibrary.org/obo/DOID_0060898"], "synonym_eng": ["PARK20", "early-onset Parkinson disease type 20", "PARKINSON DISEASE 20, EARLY-ONSET; PARK20"], "synonym_kw": ["PARK20", "early-onset Parkinson disease type 20", "PARKINSON DISEASE 20, EARLY-ONSET; PARK20"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3809824", "http://purl.obolibrary.org/obo/DOID_0060898"], "iri": "http://purl.obolibrary.org/obo/OMIM_615530", "_version_": 1564148006013370371, "label_eng": ["early-onset Parkinson disease 20"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3809824", "http://purl.obolibrary.org/obo/DOID_0060898"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_615530", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_615530", "category_kw": ["disease"], "definition_std": ["An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22."], "id_eng": "OMIM:615530", "definition_kw": ["An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22."], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C3809824", "DOID:0060898"], "label_kw": ["early-onset Parkinson disease 20"], "synonym": ["PARK20", "early-onset Parkinson disease type 20", "PARKINSON DISEASE 20, EARLY-ONSET; PARK20"], "score": 28.294563, "id_std": "OMIM:615530", "equivalent_curie_std": ["UMLS:C3809824", "DOID:0060898"], "id": "OMIM:615530", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3809824", "http://purl.obolibrary.org/obo/DOID_0060898"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_615530", "id_kw": "OMIM:615530", "leaf": true, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22."], "equivalent_curie_eng": ["UMLS:C3809824", "DOID:0060898"], "label": ["early-onset Parkinson disease 20"], "label_std": ["early-onset Parkinson disease 20"], "definition": ["An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22."], "synonym_std": ["PARK20", "early-onset Parkinson disease type 20", "PARKINSON DISEASE 20, EARLY-ONSET; PARK20"], "equivalent_curie": ["UMLS:C3809824", "DOID:0060898"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3809811", "http://purl.obolibrary.org/obo/DOID_0060891"], "synonym_eng": ["juvenile onset Parkinson disease type 19A", "PARK19", "PARKINSON DISEASE 19, JUVENILE-ONSET; PARK19"], "synonym_kw": ["juvenile onset Parkinson disease type 19A", "PARK19", "PARKINSON DISEASE 19, JUVENILE-ONSET; PARK19"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3809811", "http://purl.obolibrary.org/obo/DOID_0060891"], "iri": "http://purl.obolibrary.org/obo/OMIM_615528", "_version_": 1564148006016516096, "label_eng": ["juvenile onset Parkinson disease 19A"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3809811", "http://purl.obolibrary.org/obo/DOID_0060891"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_615528", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_615528", "category_kw": ["disease"], "definition_std": ["A Parkinson's disease that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31."], "id_eng": "OMIM:615528", "definition_kw": ["A Parkinson's disease that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31."], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C3809811", "DOID:0060891"], "label_kw": ["juvenile onset Parkinson disease 19A"], "synonym": ["juvenile onset Parkinson disease type 19A", "PARK19", "PARKINSON DISEASE 19, JUVENILE-ONSET; PARK19"], "score": 28.294563, "id_std": "OMIM:615528", "equivalent_curie_std": ["UMLS:C3809811", "DOID:0060891"], "id": "OMIM:615528", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3809811", "http://purl.obolibrary.org/obo/DOID_0060891"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_615528", "id_kw": "OMIM:615528", "leaf": true, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["A Parkinson's disease that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31."], "equivalent_curie_eng": ["UMLS:C3809811", "DOID:0060891"], "label": ["juvenile onset Parkinson disease 19A"], "label_std": ["juvenile onset Parkinson disease 19A"], "definition": ["A Parkinson's disease that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31."], "synonym_std": ["juvenile onset Parkinson disease type 19A", "PARK19", "PARKINSON DISEASE 19, JUVENILE-ONSET; PARK19"], "equivalent_curie": ["UMLS:C3809811", "DOID:0060891"]}, {"taxon_eng": "NCBITaxon:10090", "taxon_label_synonym": ["mouse", "house mouse", "mice C57BL/6xCBA/CaJ hybrid", "Mus muscaris"], "taxon_std": "NCBITaxon:10090", "equivalent_curie": ["MGI:2387178", "ENSEMBL:ENSMUSG00000051007"], "taxon_label_eng": "Mus musculus", "synonym_kw": ["Parkinson disease 7 domain-containing protein 1", "D230016J19Rik", "BC023835", "Parkinson disease 7 domain containing 1"], "equivalent_iri_std": ["http://www.informatics.jax.org/accession/MGI:2387178", "http://identifiers.org/ensembl/ENSMUSG00000051007"], "iri": "http://www.ncbi.nlm.nih.gov/gene/213350", "_version_": 1564148156659138562, "label_eng": ["Pddc1"], "taxon_kw": "NCBITaxon:10090", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/213350", "taxon_label_kw": "Mus musculus", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/213350", "category_kw": ["gene"], "taxon_label_synonym_std": ["mouse", "house mouse", "mice C57BL/6xCBA/CaJ hybrid", "Mus muscaris"], "synonym_eng": ["Parkinson disease 7 domain-containing protein 1", "D230016J19Rik", "BC023835", "Parkinson disease 7 domain containing 1"], "id_kw": "NCBIGene:213350", "id_eng": "NCBIGene:213350", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["MGI:2387178", "ENSEMBL:ENSMUSG00000051007"], "label_kw": ["Pddc1"], "synonym": ["Parkinson disease 7 domain-containing protein 1", "D230016J19Rik", "BC023835", "Parkinson disease 7 domain containing 1"], "score": 28.294563, "id_std": "NCBIGene:213350", "equivalent_curie_std": ["MGI:2387178", "ENSEMBL:ENSMUSG00000051007"], "id": "NCBIGene:213350", "equivalent_iri": ["http://www.informatics.jax.org/accession/MGI:2387178", "http://identifiers.org/ensembl/ENSMUSG00000051007"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/213350", "equivalent_iri_kw": ["http://www.informatics.jax.org/accession/MGI:2387178", "http://identifiers.org/ensembl/ENSMUSG00000051007"], "taxon": "NCBITaxon:10090", "leaf": true, "taxon_label_synonym_kw": ["mouse", "house mouse", "mice C57BL/6xCBA/CaJ hybrid", "Mus muscaris"], "category_std": ["gene"], "equivalent_curie_eng": ["MGI:2387178", "ENSEMBL:ENSMUSG00000051007"], "label": ["Pddc1"], "taxon_label_std": "Mus musculus", "equivalent_iri_eng": ["http://www.informatics.jax.org/accession/MGI:2387178", "http://identifiers.org/ensembl/ENSMUSG00000051007"], "label_std": ["Pddc1"], "synonym_std": ["Parkinson disease 7 domain-containing protein 1", "D230016J19Rik", "BC023835", "Parkinson disease 7 domain containing 1"], "taxon_label_synonym_eng": ["mouse", "house mouse", "mice C57BL/6xCBA/CaJ hybrid", "Mus muscaris"], "taxon_label": "Mus musculus"}, {"taxon_eng": "NCBITaxon:10116", "taxon_label_synonym": ["brown rat", "Norway rat", "rat", "Rattus sp. strain Wistar", "Rattus rattiscus", "Rattus norwegicus", "rats", "Gunn rats", "Rattus norvegicus8"], "taxon_std": "NCBITaxon:10116", "equivalent_curie": ["ENSEMBL:ENSRNOG00000046382", "RGD:1304836"], "taxon_label_eng": "Rattus norvegicus", "synonym_kw": ["RGD1304836", "Parkinson disease 7 domain-containing protein 1", "LOC368124", "Parkinson disease 7 domain containing 1"], "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSRNOG00000046382", "http://rgd.mcw.edu/rgdweb/report/gene/main.html?id=1304836"], "iri": "http://www.ncbi.nlm.nih.gov/gene/309110", "_version_": 1564148235406147585, "label_eng": ["Pddc1"], "taxon_kw": "NCBITaxon:10116", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/309110", "taxon_label_kw": "Rattus norvegicus", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/309110", "category_kw": ["gene"], "taxon_label_synonym_std": ["brown rat", "Norway rat", "rat", "Rattus sp. strain Wistar", "Rattus rattiscus", "Rattus norwegicus", "rats", "Gunn rats", "Rattus norvegicus8"], "synonym_eng": ["RGD1304836", "Parkinson disease 7 domain-containing protein 1", "LOC368124", "Parkinson disease 7 domain containing 1"], "id_kw": "NCBIGene:309110", "id_eng": "NCBIGene:309110", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["ENSEMBL:ENSRNOG00000046382", "RGD:1304836"], "label_kw": ["Pddc1"], "synonym": ["RGD1304836", "Parkinson disease 7 domain-containing protein 1", "LOC368124", "Parkinson disease 7 domain containing 1"], "score": 28.294563, "id_std": "NCBIGene:309110", "equivalent_curie_std": ["ENSEMBL:ENSRNOG00000046382", "RGD:1304836"], "id": "NCBIGene:309110", "equivalent_iri": ["http://identifiers.org/ensembl/ENSRNOG00000046382", "http://rgd.mcw.edu/rgdweb/report/gene/main.html?id=1304836"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/309110", "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSRNOG00000046382", "http://rgd.mcw.edu/rgdweb/report/gene/main.html?id=1304836"], "taxon": "NCBITaxon:10116", "leaf": true, "taxon_label_synonym_kw": ["brown rat", "Norway rat", "rat", "Rattus sp. strain Wistar", "Rattus rattiscus", "Rattus norwegicus", "rats", "Gunn rats", "Rattus norvegicus8"], "category_std": ["gene"], "equivalent_curie_eng": ["ENSEMBL:ENSRNOG00000046382", "RGD:1304836"], "label": ["Pddc1"], "taxon_label_std": "Rattus norvegicus", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSRNOG00000046382", "http://rgd.mcw.edu/rgdweb/report/gene/main.html?id=1304836"], "label_std": ["Pddc1"], "synonym_std": ["RGD1304836", "Parkinson disease 7 domain-containing protein 1", "LOC368124", "Parkinson disease 7 domain containing 1"], "taxon_label_synonym_eng": ["brown rat", "Norway rat", "rat", "Rattus sp. strain Wistar", "Rattus rattiscus", "Rattus norwegicus", "rats", "Gunn rats", "Rattus norvegicus8"], "taxon_label": "Rattus norvegicus"}, {"taxon_eng": "NCBITaxon:8364", "taxon_label_synonym": ["Silurana (Xenopus) tropicalis", "tropical clawed frog", "western clawed frog", "Xenopus laevis tropicalis", "Xenopus (Silurana) tropicalis", "Silurana tropicalis"], "taxon_std": "NCBITaxon:8364", "equivalent_curie": ["Xenbase:XB-GENE-1005316"], "taxon_label_eng": "Xenopus tropicalis", "synonym_kw": ["protein deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7", "park7", "parkinson protein 7"], "equivalent_iri_std": ["http://identifiers.org/xenbase/XB-GENE-1005316"], "iri": "http://www.ncbi.nlm.nih.gov/gene/548568", "_version_": 1564148248473501696, "label_eng": ["park7"], "taxon_kw": "NCBITaxon:8364", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/548568", "taxon_label_kw": "Xenopus tropicalis", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/548568", "category_kw": ["gene"], "taxon_label_synonym_std": ["Silurana (Xenopus) tropicalis", "tropical clawed frog", "western clawed frog", "Xenopus laevis tropicalis", "Xenopus (Silurana) tropicalis", "Silurana tropicalis"], "synonym_eng": ["protein deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7", "park7", "parkinson protein 7"], "id_kw": "NCBIGene:548568", "id_eng": "NCBIGene:548568", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["Xenbase:XB-GENE-1005316"], "label_kw": ["park7"], "synonym": ["protein deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7", "park7", "parkinson protein 7"], "score": 28.294563, "id_std": "NCBIGene:548568", "equivalent_curie_std": ["Xenbase:XB-GENE-1005316"], "id": "NCBIGene:548568", "equivalent_iri": ["http://identifiers.org/xenbase/XB-GENE-1005316"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/548568", "equivalent_iri_kw": ["http://identifiers.org/xenbase/XB-GENE-1005316"], "taxon": "NCBITaxon:8364", "leaf": true, "taxon_label_synonym_kw": ["Silurana (Xenopus) tropicalis", "tropical clawed frog", "western clawed frog", "Xenopus laevis tropicalis", "Xenopus (Silurana) tropicalis", "Silurana tropicalis"], "category_std": ["gene"], "equivalent_curie_eng": ["Xenbase:XB-GENE-1005316"], "label": ["park7"], "taxon_label_std": "Xenopus tropicalis", "equivalent_iri_eng": ["http://identifiers.org/xenbase/XB-GENE-1005316"], "label_std": ["park7"], "synonym_std": ["protein deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7", "park7", "parkinson protein 7"], "taxon_label_synonym_eng": ["Silurana (Xenopus) tropicalis", "tropical clawed frog", "western clawed frog", "Xenopus laevis tropicalis", "Xenopus (Silurana) tropicalis", "Silurana tropicalis"], "taxon_label": "Xenopus tropicalis"}, {"taxon_eng": "NCBITaxon:10116", "taxon_label_synonym": ["brown rat", "Norway rat", "rat", "Rattus sp. strain Wistar", "Rattus rattiscus", "Rattus norwegicus", "rats", "Gunn rats", "Rattus norvegicus8"], "taxon_std": "NCBITaxon:10116", "equivalent_curie": ["ENSEMBL:ENSRNOG00000045795", "RGD:6493620"], "taxon_label_eng": "Rattus norvegicus", "synonym_kw": ["Parkinson disease 7 domain-containing protein 1", "Parkinson disease 7 domain-containing protein 1-like"], "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSRNOG00000045795", "http://rgd.mcw.edu/rgdweb/report/gene/main.html?id=6493620"], "iri": "http://www.ncbi.nlm.nih.gov/gene/100911365", "_version_": 1564148298659397634, "label_eng": ["LOC100911365"], "taxon_kw": "NCBITaxon:10116", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/100911365", "taxon_label_kw": "Rattus norvegicus", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/100911365", "category_kw": ["gene"], "taxon_label_synonym_std": ["brown rat", "Norway rat", "rat", "Rattus sp. strain Wistar", "Rattus rattiscus", "Rattus norwegicus", "rats", "Gunn rats", "Rattus norvegicus8"], "synonym_eng": ["Parkinson disease 7 domain-containing protein 1", "Parkinson disease 7 domain-containing protein 1-like"], "id_kw": "NCBIGene:100911365", "id_eng": "NCBIGene:100911365", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["ENSEMBL:ENSRNOG00000045795", "RGD:6493620"], "label_kw": ["LOC100911365"], "synonym": ["Parkinson disease 7 domain-containing protein 1", "Parkinson disease 7 domain-containing protein 1-like"], "score": 28.294563, "id_std": "NCBIGene:100911365", "equivalent_curie_std": ["ENSEMBL:ENSRNOG00000045795", "RGD:6493620"], "id": "NCBIGene:100911365", "equivalent_iri": ["http://identifiers.org/ensembl/ENSRNOG00000045795", "http://rgd.mcw.edu/rgdweb/report/gene/main.html?id=6493620"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/100911365", "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSRNOG00000045795", "http://rgd.mcw.edu/rgdweb/report/gene/main.html?id=6493620"], "taxon": "NCBITaxon:10116", "leaf": true, "taxon_label_synonym_kw": ["brown rat", "Norway rat", "rat", "Rattus sp. strain Wistar", "Rattus rattiscus", "Rattus norwegicus", "rats", "Gunn rats", "Rattus norvegicus8"], "category_std": ["gene"], "equivalent_curie_eng": ["ENSEMBL:ENSRNOG00000045795", "RGD:6493620"], "label": ["LOC100911365"], "taxon_label_std": "Rattus norvegicus", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSRNOG00000045795", "http://rgd.mcw.edu/rgdweb/report/gene/main.html?id=6493620"], "label_std": ["LOC100911365"], "synonym_std": ["Parkinson disease 7 domain-containing protein 1", "Parkinson disease 7 domain-containing protein 1-like"], "taxon_label_synonym_eng": ["brown rat", "Norway rat", "rat", "Rattus sp. strain Wistar", "Rattus rattiscus", "Rattus norwegicus", "rats", "Gunn rats", "Rattus norvegicus8"], "taxon_label": "Rattus norvegicus"}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C0543859", "http://www.orpha.net/ORDO/Orphanet_90020"], "synonym_eng": ["Als-Pdc", "Guam disease", "Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome", "PDALS", "Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex of Guam", "Lytico-Bodig disease", "Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex type 1", "Guam Disease", "AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1", "Parkinsonism-dementia-ALS complex"], "synonym_kw": ["Als-Pdc", "Guam disease", "Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome", "PDALS", "Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex of Guam", "Lytico-Bodig disease", "Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex type 1", "Guam Disease", "AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1", "Parkinsonism-dementia-ALS complex"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C0543859", "http://www.orpha.net/ORDO/Orphanet_90020"], "iri": "http://purl.obolibrary.org/obo/OMIM_105500", "_version_": 1564147988996030467, "label_eng": ["Amyotrophic lateral sclerosis-parkinsonism-dementia complex"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C0543859", "http://www.orpha.net/ORDO/Orphanet_90020"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_105500", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_105500", "category_kw": ["disease"], "definition_std": ["See http://www.omim.org/entry/105500"], "id_eng": "OMIM:105500", "definition_kw": ["See http://www.omim.org/entry/105500"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C0543859", "Orphanet:90020"], "label_kw": ["Amyotrophic lateral sclerosis-parkinsonism-dementia complex"], "synonym": ["Als-Pdc", "Guam disease", "Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome", "PDALS", "Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex of Guam", "Lytico-Bodig disease", "Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex type 1", "Guam Disease", "AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1", "Parkinsonism-dementia-ALS complex"], "score": 28.120625, "id_std": "OMIM:105500", "equivalent_curie_std": ["UMLS:C0543859", "Orphanet:90020"], "id": "OMIM:105500", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C0543859", "http://www.orpha.net/ORDO/Orphanet_90020"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_105500", "id_kw": "OMIM:105500", "leaf": true, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["See http://www.omim.org/entry/105500"], "equivalent_curie_eng": ["UMLS:C0543859", "Orphanet:90020"], "label": ["Amyotrophic lateral sclerosis-parkinsonism-dementia complex"], "label_std": ["Amyotrophic lateral sclerosis-parkinsonism-dementia complex"], "definition": ["See http://www.omim.org/entry/105500"], "synonym_std": ["Als-Pdc", "Guam disease", "Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome", "PDALS", "Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex of Guam", "Lytico-Bodig disease", "Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex type 1", "Guam Disease", "AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1", "Parkinsonism-dementia-ALS complex"], "equivalent_curie": ["UMLS:C0543859", "Orphanet:90020"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C0393565"], "synonym_eng": ["CO-induced parkinsonism"], "synonym_kw": ["CO-induced parkinsonism"], "iri": "http://www.orpha.net/ORDO/Orphanet_306686", "_version_": 1564148002308751362, "label_eng": ["Carbon monoxide-induced parkinsonism"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C0393565"], "iri_kw": "http://www.orpha.net/ORDO/Orphanet_306686", "iri_eng": "http://www.orpha.net/ORDO/Orphanet_306686", "category_kw": ["disease"], "id_eng": "Orphanet:306686", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C0393565"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C0393565"], "label_kw": ["Carbon monoxide-induced parkinsonism"], "synonym": ["CO-induced parkinsonism"], "score": 27.482935, "id_std": "Orphanet:306686", "equivalent_curie_std": ["UMLS:C0393565"], "id": "Orphanet:306686", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C0393565"], "iri_std": "http://www.orpha.net/ORDO/Orphanet_306686", "id_kw": "Orphanet:306686", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["UMLS:C0393565"], "label": ["Carbon monoxide-induced parkinsonism"], "label_std": ["Carbon monoxide-induced parkinsonism"], "synonym_std": ["CO-induced parkinsonism"], "equivalent_curie": ["UMLS:C0393565"]}, {"taxon_eng": "NCBITaxon:10090", "taxon_label_synonym": ["mouse", "house mouse", "mice C57BL/6xCBA/CaJ hybrid", "Mus muscaris"], "taxon_std": "NCBITaxon:10090", "equivalent_curie": ["MGI:2135637", "ENSEMBL:ENSMUSG00000028964"], "taxon_label_eng": "Mus musculus", "synonym_kw": ["protein DJ-1", "protein deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7", "parkinson disease protein 7 homolog", "DJ-1", "Dj1", "RNA-binding protein regulatory subunit"], "equivalent_iri_std": ["http://www.informatics.jax.org/accession/MGI:2135637", "http://identifiers.org/ensembl/ENSMUSG00000028964"], "iri": "http://www.ncbi.nlm.nih.gov/gene/57320", "_version_": 1564148096721485825, "label_eng": ["Park7"], "taxon_kw": "NCBITaxon:10090", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/57320", "taxon_label_kw": "Mus musculus", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/57320", "category_kw": ["gene"], "taxon_label_synonym_std": ["mouse", "house mouse", "mice C57BL/6xCBA/CaJ hybrid", "Mus muscaris"], "synonym_eng": ["protein DJ-1", "protein deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7", "parkinson disease protein 7 homolog", "DJ-1", "Dj1", "RNA-binding protein regulatory subunit"], "id_kw": "NCBIGene:57320", "id_eng": "NCBIGene:57320", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["MGI:2135637", "ENSEMBL:ENSMUSG00000028964"], "label_kw": ["Park7"], "synonym": ["protein DJ-1", "protein deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7", "parkinson disease protein 7 homolog", "DJ-1", "Dj1", "RNA-binding protein regulatory subunit"], "score": 27.25575, "id_std": "NCBIGene:57320", "equivalent_curie_std": ["MGI:2135637", "ENSEMBL:ENSMUSG00000028964"], "id": "NCBIGene:57320", "equivalent_iri": ["http://www.informatics.jax.org/accession/MGI:2135637", "http://identifiers.org/ensembl/ENSMUSG00000028964"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/57320", "equivalent_iri_kw": ["http://www.informatics.jax.org/accession/MGI:2135637", "http://identifiers.org/ensembl/ENSMUSG00000028964"], "taxon": "NCBITaxon:10090", "leaf": true, "taxon_label_synonym_kw": ["mouse", "house mouse", "mice C57BL/6xCBA/CaJ hybrid", "Mus muscaris"], "category_std": ["gene"], "equivalent_curie_eng": ["MGI:2135637", "ENSEMBL:ENSMUSG00000028964"], "label": ["Park7"], "taxon_label_std": "Mus musculus", "equivalent_iri_eng": ["http://www.informatics.jax.org/accession/MGI:2135637", "http://identifiers.org/ensembl/ENSMUSG00000028964"], "label_std": ["Park7"], "synonym_std": ["protein DJ-1", "protein deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7", "parkinson disease protein 7 homolog", "DJ-1", "Dj1", "RNA-binding protein regulatory subunit"], "taxon_label_synonym_eng": ["mouse", "house mouse", "mice C57BL/6xCBA/CaJ hybrid", "Mus muscaris"], "taxon_label": "Mus musculus"}, {"taxon_eng": "NCBITaxon:9913", "taxon_label_synonym": ["Bos bovis", "Bos Tauurus", "domestic cattle", "domestic cow", "bovine", "cattle", "cow", "Bos primigenius taurus"], "taxon_std": "NCBITaxon:9913", "equivalent_curie": ["ENSEMBL:ENSBTAG00000018996"], "taxon_label_eng": "Bos taurus", "synonym_kw": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "E3 ubiquitin-protein ligase parkin", "PARK2"], "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSBTAG00000018996"], "iri": "http://www.ncbi.nlm.nih.gov/gene/530858", "_version_": 1564148084092436482, "label_eng": ["PRKN"], "taxon_kw": "NCBITaxon:9913", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/530858", "taxon_label_kw": "Bos taurus", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/530858", "category_kw": ["gene"], "taxon_label_synonym_std": ["Bos bovis", "Bos Tauurus", "domestic cattle", "domestic cow", "bovine", "cattle", "cow", "Bos primigenius taurus"], "synonym_eng": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "E3 ubiquitin-protein ligase parkin", "PARK2"], "id_kw": "NCBIGene:530858", "id_eng": "NCBIGene:530858", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["ENSEMBL:ENSBTAG00000018996"], "label_kw": ["PRKN"], "synonym": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "E3 ubiquitin-protein ligase parkin", "PARK2"], "score": 27.25575, "id_std": "NCBIGene:530858", "equivalent_curie_std": ["ENSEMBL:ENSBTAG00000018996"], "id": "NCBIGene:530858", "equivalent_iri": ["http://identifiers.org/ensembl/ENSBTAG00000018996"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/530858", "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSBTAG00000018996"], "taxon": "NCBITaxon:9913", "leaf": true, "taxon_label_synonym_kw": ["Bos bovis", "Bos Tauurus", "domestic cattle", "domestic cow", "bovine", "cattle", "cow", "Bos primigenius taurus"], "category_std": ["gene"], "equivalent_curie_eng": ["ENSEMBL:ENSBTAG00000018996"], "label": ["PRKN"], "taxon_label_std": "Bos taurus", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSBTAG00000018996"], "label_std": ["PRKN"], "synonym_std": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "E3 ubiquitin-protein ligase parkin", "PARK2"], "taxon_label_synonym_eng": ["Bos bovis", "Bos Tauurus", "domestic cattle", "domestic cow", "bovine", "cattle", "cow", "Bos primigenius taurus"], "taxon_label": "Bos taurus"}, {"taxon_eng": "NCBITaxon:9615", "taxon_label_synonym": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "taxon_std": "NCBITaxon:9615", "taxon_label_eng": "Canis lupus familiaris", "synonym_kw": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "PARK2", "E3 ubiquitin-protein ligase parkin"], "iri": "http://www.ncbi.nlm.nih.gov/gene/612316", "label_eng": ["PRKN"], "taxon_kw": "NCBITaxon:9615", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/612316", "taxon_label_kw": "Canis lupus familiaris", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/612316", "category_kw": ["gene"], "taxon_label_synonym_std": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "synonym_eng": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "PARK2", "E3 ubiquitin-protein ligase parkin"], "id_kw": "NCBIGene:612316", "id_eng": "NCBIGene:612316", "category": ["gene"], "category_eng": ["gene"], "_version_": 1564148030985207810, "label_kw": ["PRKN"], "synonym": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "PARK2", "E3 ubiquitin-protein ligase parkin"], "score": 27.25575, "id_std": "NCBIGene:612316", "id": "NCBIGene:612316", "iri_std": "http://www.ncbi.nlm.nih.gov/gene/612316", "taxon": "NCBITaxon:9615", "leaf": true, "taxon_label_synonym_kw": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "category_std": ["gene"], "label": ["PRKN"], "taxon_label_std": "Canis lupus familiaris", "label_std": ["PRKN"], "synonym_std": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "PARK2", "E3 ubiquitin-protein ligase parkin"], "taxon_label_synonym_eng": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "taxon_label": "Canis lupus familiaris"}, {"taxon_eng": "NCBITaxon:9823", "taxon_label_synonym": ["swine", "pigs", "wild boar", "Sus scrofus", "pig"], "taxon_std": "NCBITaxon:9823", "taxon_label_eng": "Sus scrofa", "synonym_kw": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "pdr-1", "E3 ubiquitin-protein ligase parkin", "PARK2"], "iri": "http://www.ncbi.nlm.nih.gov/gene/733673", "label_eng": ["PRKN"], "taxon_kw": "NCBITaxon:9823", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/733673", "taxon_label_kw": "Sus scrofa", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/733673", "category_kw": ["gene"], "taxon_label_synonym_std": ["swine", "pigs", "wild boar", "Sus scrofus", "pig"], "synonym_eng": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "pdr-1", "E3 ubiquitin-protein ligase parkin", "PARK2"], "id_kw": "NCBIGene:733673", "id_eng": "NCBIGene:733673", "category": ["gene"], "category_eng": ["gene"], "_version_": 1564148193939161088, "label_kw": ["PRKN"], "synonym": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "pdr-1", "E3 ubiquitin-protein ligase parkin", "PARK2"], "score": 27.25575, "id_std": "NCBIGene:733673", "id": "NCBIGene:733673", "iri_std": "http://www.ncbi.nlm.nih.gov/gene/733673", "taxon": "NCBITaxon:9823", "leaf": true, "taxon_label_synonym_kw": ["swine", "pigs", "wild boar", "Sus scrofus", "pig"], "category_std": ["gene"], "label": ["PRKN"], "taxon_label_std": "Sus scrofa", "label_std": ["PRKN"], "synonym_std": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "pdr-1", "E3 ubiquitin-protein ligase parkin", "PARK2"], "taxon_label_synonym_eng": ["swine", "pigs", "wild boar", "Sus scrofus", "pig"], "taxon_label": "Sus scrofa"}, {"taxon_eng": "NCBITaxon:9796", "taxon_label_synonym": ["horse", "domestic horse", "Equus przewalskii f. caballus", "Equus ferus caballus", "equine", "Equus przewalskii forma caballus"], "taxon_std": "NCBITaxon:9796", "taxon_label_eng": "Equus caballus", "synonym_kw": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "PARK2", "E3 ubiquitin-protein ligase parkin"], "iri": "http://www.ncbi.nlm.nih.gov/gene/100057832", "label_eng": ["PRKN"], "taxon_kw": "NCBITaxon:9796", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/100057832", "taxon_label_kw": "Equus caballus", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/100057832", "category_kw": ["gene"], "taxon_label_synonym_std": ["horse", "domestic horse", "Equus przewalskii f. caballus", "Equus ferus caballus", "equine", "Equus przewalskii forma caballus"], "synonym_eng": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "PARK2", "E3 ubiquitin-protein ligase parkin"], "id_kw": "NCBIGene:100057832", "id_eng": "NCBIGene:100057832", "category": ["gene"], "category_eng": ["gene"], "_version_": 1564148295961411584, "label_kw": ["PRKN"], "synonym": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "PARK2", "E3 ubiquitin-protein ligase parkin"], "score": 27.25575, "id_std": "NCBIGene:100057832", "id": "NCBIGene:100057832", "iri_std": "http://www.ncbi.nlm.nih.gov/gene/100057832", "taxon": "NCBITaxon:9796", "leaf": true, "taxon_label_synonym_kw": ["horse", "domestic horse", "Equus przewalskii f. caballus", "Equus ferus caballus", "equine", "Equus przewalskii forma caballus"], "category_std": ["gene"], "label": ["PRKN"], "taxon_label_std": "Equus caballus", "label_std": ["PRKN"], "synonym_std": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "PARK2", "E3 ubiquitin-protein ligase parkin"], "taxon_label_synonym_eng": ["horse", "domestic horse", "Equus przewalskii f. caballus", "Equus ferus caballus", "equine", "Equus przewalskii forma caballus"], "taxon_label": "Equus caballus"}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C0751864"], "synonym_eng": ["Parkinsonism, MPTP-Induced", "Poisoning, MPTP", "Poisoning, 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine", "MPTP Neurotoxicity Syndromes", "MPTP Neurotoxicity Syndrome", "MPTP Induced Degeneration of the Striatum", "MPTP-Induced Parkinsonism", "Neurotoxicity Syndromes, MPTP", "MPTP Induced Parkinsonism", "Neurotoxicity Syndrome, MPTP", "MPTP-Induced Degeneration of the Striatum"], "synonym_kw": ["Parkinsonism, MPTP-Induced", "Poisoning, MPTP", "Poisoning, 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine", "MPTP Neurotoxicity Syndromes", "MPTP Neurotoxicity Syndrome", "MPTP Induced Degeneration of the Striatum", "MPTP-Induced Parkinsonism", "Neurotoxicity Syndromes, MPTP", "MPTP Induced Parkinsonism", "Neurotoxicity Syndrome, MPTP", "MPTP-Induced Degeneration of the Striatum"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C0751864"], "iri": "http://purl.obolibrary.org/obo/MESH_D020267", "_version_": 1564148005004640258, "label_eng": ["MPTP Poisoning"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C0751864"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_D020267", "iri_eng": "http://purl.obolibrary.org/obo/MESH_D020267", "category_kw": ["disease"], "definition_std": ["A condition caused by the neurotoxin MPTP which causes selective destruction of nigrostriatal dopaminergic neurons. Clinical features include irreversible parkinsonian signs including rigidity and bradykinesia (PARKINSON DISEASE, SECONDARY). MPTP toxicity is also used as an animal model for the study of PARKINSON DISEASE. (Adams et al., Principles of Neurology, 6th ed, p1072; Neurology 1986 Feb;36(2):250-8)"], "id_eng": "MESH:D020267", "definition_kw": ["A condition caused by the neurotoxin MPTP which causes selective destruction of nigrostriatal dopaminergic neurons. Clinical features include irreversible parkinsonian signs including rigidity and bradykinesia (PARKINSON DISEASE, SECONDARY). MPTP toxicity is also used as an animal model for the study of PARKINSON DISEASE. (Adams et al., Principles of Neurology, 6th ed, p1072; Neurology 1986 Feb;36(2):250-8)"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C0751864"], "label_kw": ["MPTP Poisoning"], "synonym": ["Parkinsonism, MPTP-Induced", "Poisoning, MPTP", "Poisoning, 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine", "MPTP Neurotoxicity Syndromes", "MPTP Neurotoxicity Syndrome", "MPTP Induced Degeneration of the Striatum", "MPTP-Induced Parkinsonism", "Neurotoxicity Syndromes, MPTP", "MPTP Induced Parkinsonism", "Neurotoxicity Syndrome, MPTP", "MPTP-Induced Degeneration of the Striatum"], "score": 26.949308, "id_std": "MESH:D020267", "equivalent_curie_std": ["UMLS:C0751864"], "id": "MESH:D020267", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C0751864"], "iri_std": "http://purl.obolibrary.org/obo/MESH_D020267", "id_kw": "MESH:D020267", "leaf": true, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["A condition caused by the neurotoxin MPTP which causes selective destruction of nigrostriatal dopaminergic neurons. Clinical features include irreversible parkinsonian signs including rigidity and bradykinesia (PARKINSON DISEASE, SECONDARY). MPTP toxicity is also used as an animal model for the study of PARKINSON DISEASE. (Adams et al., Principles of Neurology, 6th ed, p1072; Neurology 1986 Feb;36(2):250-8)"], "equivalent_curie_eng": ["UMLS:C0751864"], "label": ["MPTP Poisoning"], "label_std": ["MPTP Poisoning"], "definition": ["A condition caused by the neurotoxin MPTP which causes selective destruction of nigrostriatal dopaminergic neurons. Clinical features include irreversible parkinsonian signs including rigidity and bradykinesia (PARKINSON DISEASE, SECONDARY). MPTP toxicity is also used as an animal model for the study of PARKINSON DISEASE. (Adams et al., Principles of Neurology, 6th ed, p1072; Neurology 1986 Feb;36(2):250-8)"], "synonym_std": ["Parkinsonism, MPTP-Induced", "Poisoning, MPTP", "Poisoning, 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine", "MPTP Neurotoxicity Syndromes", "MPTP Neurotoxicity Syndrome", "MPTP Induced Degeneration of the Striatum", "MPTP-Induced Parkinsonism", "Neurotoxicity Syndromes, MPTP", "MPTP Induced Parkinsonism", "Neurotoxicity Syndrome, MPTP", "MPTP-Induced Degeneration of the Striatum"], "equivalent_curie": ["UMLS:C0751864"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C1838867", "http://purl.obolibrary.org/obo/MESH_C564015"], "synonym_eng": ["PARKINSON DISEASE, MITOCHONDRIAL"], "synonym_kw": ["PARKINSON DISEASE, MITOCHONDRIAL"], "iri": "http://purl.obolibrary.org/obo/OMIM_556500", "_version_": 1564147974857031680, "label_eng": ["Parkinson Disease, Mitochondrial"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C1838867", "http://purl.obolibrary.org/obo/MESH_C564015"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_556500", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_556500", "category_kw": ["disease"], "id_eng": "OMIM:556500", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C1838867", "http://purl.obolibrary.org/obo/MESH_C564015"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C1838867", "MESH:C564015"], "label_kw": ["Parkinson Disease, Mitochondrial"], "synonym": ["PARKINSON DISEASE, MITOCHONDRIAL"], "score": 26.897432, "id_std": "OMIM:556500", "equivalent_curie_std": ["UMLS:C1838867", "MESH:C564015"], "id": "OMIM:556500", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C1838867", "http://purl.obolibrary.org/obo/MESH_C564015"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_556500", "id_kw": "OMIM:556500", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["UMLS:C1838867", "MESH:C564015"], "label": ["Parkinson Disease, Mitochondrial"], "label_std": ["Parkinson Disease, Mitochondrial"], "synonym_std": ["PARKINSON DISEASE, MITOCHONDRIAL"], "equivalent_curie": ["UMLS:C1838867", "MESH:C564015"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C2931436"], "synonym_eng": ["Parkinson disease type 3"], "synonym_kw": ["Parkinson disease type 3"], "iri": "http://purl.obolibrary.org/obo/MESH_C537176", "_version_": 1564148012643516420, "label_eng": ["Parkinson disease 3"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C2931436"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_C537176", "iri_eng": "http://purl.obolibrary.org/obo/MESH_C537176", "category_kw": ["disease"], "id_eng": "MESH:C537176", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C2931436"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C2931436"], "label_kw": ["Parkinson disease 3"], "synonym": ["Parkinson disease type 3"], "score": 26.897432, "id_std": "MESH:C537176", "equivalent_curie_std": ["UMLS:C2931436"], "id": "MESH:C537176", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C2931436"], "iri_std": "http://purl.obolibrary.org/obo/MESH_C537176", "id_kw": "MESH:C537176", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["UMLS:C2931436"], "label": ["Parkinson disease 3"], "label_std": ["Parkinson disease 3"], "synonym_std": ["Parkinson disease type 3"], "equivalent_curie": ["UMLS:C2931436"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3496588"], "synonym_eng": ["Parkinson Disease type 13"], "synonym_kw": ["Parkinson Disease type 13"], "iri": "http://purl.obolibrary.org/obo/MESH_C565204", "_version_": 1564147994138247170, "label_eng": ["Parkinson Disease 13"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3496588"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_C565204", "iri_eng": "http://purl.obolibrary.org/obo/MESH_C565204", "category_kw": ["disease"], "id_eng": "MESH:C565204", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3496588"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C3496588"], "label_kw": ["Parkinson Disease 13"], "synonym": ["Parkinson Disease type 13"], "score": 26.897432, "id_std": "MESH:C565204", "equivalent_curie_std": ["UMLS:C3496588"], "id": "MESH:C565204", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3496588"], "iri_std": "http://purl.obolibrary.org/obo/MESH_C565204", "id_kw": "MESH:C565204", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["UMLS:C3496588"], "label": ["Parkinson Disease 13"], "label_std": ["Parkinson Disease 13"], "synonym_std": ["Parkinson Disease type 13"], "equivalent_curie": ["UMLS:C3496588"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3501658", "http://purl.obolibrary.org/obo/UMLS_C1846862"], "synonym_eng": ["Parkinson Disease type 8"], "synonym_kw": ["Parkinson Disease type 8"], "iri": "http://purl.obolibrary.org/obo/MESH_C564631", "_version_": 1564147994224230402, "label_eng": ["Parkinson Disease 8"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3501658", "http://purl.obolibrary.org/obo/UMLS_C1846862"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_C564631", "iri_eng": "http://purl.obolibrary.org/obo/MESH_C564631", "category_kw": ["disease"], "id_eng": "MESH:C564631", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3501658", "http://purl.obolibrary.org/obo/UMLS_C1846862"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C3501658", "UMLS:C1846862"], "label_kw": ["Parkinson Disease 8"], "synonym": ["Parkinson Disease type 8"], "score": 26.897432, "id_std": "MESH:C564631", "equivalent_curie_std": ["UMLS:C3501658", "UMLS:C1846862"], "id": "MESH:C564631", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3501658", "http://purl.obolibrary.org/obo/UMLS_C1846862"], "iri_std": "http://purl.obolibrary.org/obo/MESH_C564631", "id_kw": "MESH:C564631", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["UMLS:C3501658", "UMLS:C1846862"], "label": ["Parkinson Disease 8"], "label_std": ["Parkinson Disease 8"], "synonym_std": ["Parkinson Disease type 8"], "equivalent_curie": ["UMLS:C3501658", "UMLS:C1846862"]}, {"synonym_eng": ["Parkinson Disease type 11"], "synonym_kw": ["Parkinson Disease type 11"], "iri": "http://purl.obolibrary.org/obo/MESH_C564345", "label_eng": ["Parkinson Disease 11"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_C564345", "iri_eng": "http://purl.obolibrary.org/obo/MESH_C564345", "category_kw": ["disease"], "id_eng": "MESH:C564345", "leaf": true, "category_eng": ["disease"], "label_kw": ["Parkinson Disease 11"], "synonym": ["Parkinson Disease type 11"], "score": 26.897432, "id_std": "MESH:C564345", "id": "MESH:C564345", "iri_std": "http://purl.obolibrary.org/obo/MESH_C564345", "id_kw": "MESH:C564345", "_version_": 1564147994243104771, "category": ["disease"], "category_std": ["disease"], "label": ["Parkinson Disease 11"], "label_std": ["Parkinson Disease 11"], "synonym_std": ["Parkinson Disease type 11"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_CN207200"], "synonym_eng": ["MSA, parkinsonian type", "MSA-p"], "synonym_kw": ["MSA, parkinsonian type", "MSA-p"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_CN207200"], "iri": "http://www.orpha.net/ORDO/Orphanet_98933", "_version_": 1564147994636320769, "label_eng": ["Multiple system atrophy, parkinsonian type"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_CN207200"], "iri_kw": "http://www.orpha.net/ORDO/Orphanet_98933", "iri_eng": "http://www.orpha.net/ORDO/Orphanet_98933", "category_kw": ["disease"], "definition_std": ["Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA; see this term) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability)."], "id_eng": "Orphanet:98933", "definition_kw": ["Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA; see this term) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability)."], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:CN207200"], "label_kw": ["Multiple system atrophy, parkinsonian type"], "synonym": ["MSA, parkinsonian type", "MSA-p"], "score": 26.897432, "id_std": "Orphanet:98933", "equivalent_curie_std": ["UMLS:CN207200"], "id": "Orphanet:98933", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_CN207200"], "iri_std": "http://www.orpha.net/ORDO/Orphanet_98933", "id_kw": "Orphanet:98933", "leaf": true, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA; see this term) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability)."], "equivalent_curie_eng": ["UMLS:CN207200"], "label": ["Multiple system atrophy, parkinsonian type"], "label_std": ["Multiple system atrophy, parkinsonian type"], "definition": ["Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA; see this term) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability)."], "synonym_std": ["MSA, parkinsonian type", "MSA-p"], "equivalent_curie": ["UMLS:CN207200"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3501657"], "synonym_eng": ["Parkinson Disease type 5"], "synonym_kw": ["Parkinson Disease type 5"], "iri": "http://purl.obolibrary.org/obo/MESH_C566017", "_version_": 1564147994685603844, "label_eng": ["Parkinson Disease 5"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3501657"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_C566017", "iri_eng": "http://purl.obolibrary.org/obo/MESH_C566017", "category_kw": ["disease"], "id_eng": "MESH:C566017", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3501657"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C3501657"], "label_kw": ["Parkinson Disease 5"], "synonym": ["Parkinson Disease type 5"], "score": 26.897432, "id_std": "MESH:C566017", "equivalent_curie_std": ["UMLS:C3501657"], "id": "MESH:C566017", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3501657"], "iri_std": "http://purl.obolibrary.org/obo/MESH_C566017", "id_kw": "MESH:C566017", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["UMLS:C3501657"], "label": ["Parkinson Disease 5"], "label_std": ["Parkinson Disease 5"], "synonym_std": ["Parkinson Disease type 5"], "equivalent_curie": ["UMLS:C3501657"]}, {"synonym_eng": ["Parkinson Disease 14, Autosomal Recessive"], "synonym_kw": ["Parkinson Disease 14, Autosomal Recessive"], "iri": "http://purl.obolibrary.org/obo/MESH_C567844", "label_eng": ["Dystonia-Parkinsonism, Adult-Onset"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_C567844", "iri_eng": "http://purl.obolibrary.org/obo/MESH_C567844", "category_kw": ["disease"], "id_eng": "MESH:C567844", "leaf": true, "category_eng": ["disease"], "label_kw": ["Dystonia-Parkinsonism, Adult-Onset"], "synonym": ["Parkinson Disease 14, Autosomal Recessive"], "score": 26.897432, "id_std": "MESH:C567844", "id": "MESH:C567844", "iri_std": "http://purl.obolibrary.org/obo/MESH_C567844", "id_kw": "MESH:C567844", "_version_": 1564147996191358977, "category": ["disease"], "category_std": ["disease"], "label": ["Dystonia-Parkinsonism, Adult-Onset"], "label_std": ["Dystonia-Parkinsonism, Adult-Onset"], "synonym_std": ["Parkinson Disease 14, Autosomal Recessive"]}, {"taxon_eng": "NCBITaxon:13616", "taxon_label_synonym": ["gray short-tailed opossum", "Monodelphis domesticus"], "taxon_std": "NCBITaxon:13616", "equivalent_curie": ["ENSEMBL:ENSMODG00000009595"], "taxon_label_eng": "Monodelphis domestica", "synonym_kw": ["protein deglycase DJ-1", "parkinson protein 7"], "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSMODG00000009595"], "iri": "http://www.ncbi.nlm.nih.gov/gene/100010357", "_version_": 1564148045310853120, "label_eng": ["PARK7"], "taxon_kw": "NCBITaxon:13616", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/100010357", "taxon_label_kw": "Monodelphis domestica", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/100010357", "category_kw": ["gene"], "taxon_label_synonym_std": ["gray short-tailed opossum", "Monodelphis domesticus"], "synonym_eng": ["protein deglycase DJ-1", "parkinson protein 7"], "id_kw": "NCBIGene:100010357", "id_eng": "NCBIGene:100010357", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["ENSEMBL:ENSMODG00000009595"], "label_kw": ["PARK7"], "synonym": ["protein deglycase DJ-1", "parkinson protein 7"], "score": 26.897432, "id_std": "NCBIGene:100010357", "equivalent_curie_std": ["ENSEMBL:ENSMODG00000009595"], "id": "NCBIGene:100010357", "equivalent_iri": ["http://identifiers.org/ensembl/ENSMODG00000009595"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/100010357", "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSMODG00000009595"], "taxon": "NCBITaxon:13616", "leaf": true, "taxon_label_synonym_kw": ["gray short-tailed opossum", "Monodelphis domesticus"], "category_std": ["gene"], "equivalent_curie_eng": ["ENSEMBL:ENSMODG00000009595"], "label": ["PARK7"], "taxon_label_std": "Monodelphis domestica", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSMODG00000009595"], "label_std": ["PARK7"], "synonym_std": ["protein deglycase DJ-1", "parkinson protein 7"], "taxon_label_synonym_eng": ["gray short-tailed opossum", "Monodelphis domesticus"], "taxon_label": "Monodelphis domestica"}, {"taxon_eng": "NCBITaxon:28377", "taxon_label_synonym": ["Carolina anole", "green anole"], "taxon_std": "NCBITaxon:28377", "equivalent_curie": ["ENSEMBL:ENSACAG00000017386"], "taxon_label_eng": "Anolis carolinensis", "synonym_kw": ["protein deglycase DJ-1", "parkinson protein 7"], "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSACAG00000017386"], "iri": "http://www.ncbi.nlm.nih.gov/gene/100551640", "_version_": 1564148050910248960, "label_eng": ["park7"], "taxon_kw": "NCBITaxon:28377", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/100551640", "taxon_label_kw": "Anolis carolinensis", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/100551640", "category_kw": ["gene"], "taxon_label_synonym_std": ["Carolina anole", "green anole"], "synonym_eng": ["protein deglycase DJ-1", "parkinson protein 7"], "id_kw": "NCBIGene:100551640", "id_eng": "NCBIGene:100551640", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["ENSEMBL:ENSACAG00000017386"], "label_kw": ["park7"], "synonym": ["protein deglycase DJ-1", "parkinson protein 7"], "score": 26.897432, "id_std": "NCBIGene:100551640", "equivalent_curie_std": ["ENSEMBL:ENSACAG00000017386"], "id": "NCBIGene:100551640", "equivalent_iri": ["http://identifiers.org/ensembl/ENSACAG00000017386"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/100551640", "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSACAG00000017386"], "taxon": "NCBITaxon:28377", "leaf": true, "taxon_label_synonym_kw": ["Carolina anole", "green anole"], "category_std": ["gene"], "equivalent_curie_eng": ["ENSEMBL:ENSACAG00000017386"], "label": ["park7"], "taxon_label_std": "Anolis carolinensis", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSACAG00000017386"], "label_std": ["park7"], "synonym_std": ["protein deglycase DJ-1", "parkinson protein 7"], "taxon_label_synonym_eng": ["Carolina anole", "green anole"], "taxon_label": "Anolis carolinensis"}, {"taxon_eng": "NCBITaxon:9258", "taxon_label_synonym": ["platypus", "Ornythorhynchus anatinus", "duckbill platypus", "duck-billed platypus"], "taxon_std": "NCBITaxon:9258", "taxon_label_eng": "Ornithorhynchus anatinus", "synonym_kw": ["protein deglycase DJ-1", "parkinson protein 7"], "iri": "http://www.ncbi.nlm.nih.gov/gene/100073498", "label_eng": ["PARK7"], "taxon_kw": "NCBITaxon:9258", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/100073498", "taxon_label_kw": "Ornithorhynchus anatinus", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/100073498", "category_kw": ["gene"], "taxon_label_synonym_std": ["platypus", "Ornythorhynchus anatinus", "duckbill platypus", "duck-billed platypus"], "synonym_eng": ["protein deglycase DJ-1", "parkinson protein 7"], "id_kw": "NCBIGene:100073498", "id_eng": "NCBIGene:100073498", "category": ["gene"], "category_eng": ["gene"], "_version_": 1564148250110328834, "label_kw": ["PARK7"], "synonym": ["protein deglycase DJ-1", "parkinson protein 7"], "score": 26.897432, "id_std": "NCBIGene:100073498", "id": "NCBIGene:100073498", "iri_std": "http://www.ncbi.nlm.nih.gov/gene/100073498", "taxon": "NCBITaxon:9258", "leaf": true, "taxon_label_synonym_kw": ["platypus", "Ornythorhynchus anatinus", "duckbill platypus", "duck-billed platypus"], "category_std": ["gene"], "label": ["PARK7"], "taxon_label_std": "Ornithorhynchus anatinus", "label_std": ["PARK7"], "synonym_std": ["protein deglycase DJ-1", "parkinson protein 7"], "taxon_label_synonym_eng": ["platypus", "Ornythorhynchus anatinus", "duckbill platypus", "duck-billed platypus"], "taxon_label": "Ornithorhynchus anatinus"}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C1847640", "http://www.orpha.net/ORDO/Orphanet_306674", "http://purl.obolibrary.org/obo/DOID_0060556", "http://purl.obolibrary.org/obo/MESH_C537177"], "synonym_eng": ["KUFOR-RAKEB SYNDROME; KRS", "Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis and Dementia", "autosomal recessive Parkinson disease 9", "Parkinson disease 9", "Ceroid Lipofuscinosis, Neuronal, 12", "autosomal recessive juvenile onset Parkinson disease 9", "Parkinson Disease 9, Autosomal Recessive", "Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis and Dementia", "PARK9", "KRS"], "synonym_kw": ["KUFOR-RAKEB SYNDROME; KRS", "Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis and Dementia", "autosomal recessive Parkinson disease 9", "Parkinson disease 9", "Ceroid Lipofuscinosis, Neuronal, 12", "autosomal recessive juvenile onset Parkinson disease 9", "Parkinson Disease 9, Autosomal Recessive", "Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis and Dementia", "PARK9", "KRS"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C1847640", "http://www.orpha.net/ORDO/Orphanet_306674", "http://purl.obolibrary.org/obo/DOID_0060556", "http://purl.obolibrary.org/obo/MESH_C537177"], "iri": "http://purl.obolibrary.org/obo/OMIM_606693", "_version_": 1564148010904977408, "label_eng": ["Kufor-Rakeb syndrome"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C1847640", "http://www.orpha.net/ORDO/Orphanet_306674", "http://purl.obolibrary.org/obo/DOID_0060556", "http://purl.obolibrary.org/obo/MESH_C537177"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_606693", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_606693", "category_kw": ["disease"], "definition_std": ["A disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene (ATP13A2) on chromosome 1p36."], "id_eng": "OMIM:606693", "definition_kw": ["A disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene (ATP13A2) on chromosome 1p36."], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C1847640", "Orphanet:306674", "DOID:0060556", "MESH:C537177"], "label_kw": ["Kufor-Rakeb syndrome"], "synonym": ["KUFOR-RAKEB SYNDROME; KRS", "Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis and Dementia", "autosomal recessive Parkinson disease 9", "Parkinson disease 9", "Ceroid Lipofuscinosis, Neuronal, 12", "autosomal recessive juvenile onset Parkinson disease 9", "Parkinson Disease 9, Autosomal Recessive", "Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis and Dementia", "PARK9", "KRS"], "score": 26.507763, "id_std": "OMIM:606693", "equivalent_curie_std": ["UMLS:C1847640", "Orphanet:306674", "DOID:0060556", "MESH:C537177"], "id": "OMIM:606693", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C1847640", "http://www.orpha.net/ORDO/Orphanet_306674", "http://purl.obolibrary.org/obo/DOID_0060556", "http://purl.obolibrary.org/obo/MESH_C537177"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_606693", "id_kw": "OMIM:606693", "leaf": false, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["A disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene (ATP13A2) on chromosome 1p36."], "equivalent_curie_eng": ["UMLS:C1847640", "Orphanet:306674", "DOID:0060556", "MESH:C537177"], "label": ["Kufor-Rakeb syndrome"], "label_std": ["Kufor-Rakeb syndrome"], "definition": ["A disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene (ATP13A2) on chromosome 1p36."], "synonym_std": ["KUFOR-RAKEB SYNDROME; KRS", "Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis and Dementia", "autosomal recessive Parkinson disease 9", "Parkinson disease 9", "Ceroid Lipofuscinosis, Neuronal, 12", "autosomal recessive juvenile onset Parkinson disease 9", "Parkinson Disease 9, Autosomal Recessive", "Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis and Dementia", "PARK9", "KRS"], "equivalent_curie": ["UMLS:C1847640", "Orphanet:306674", "DOID:0060556", "MESH:C537177"]}, {"synonym_eng": ["PARK22", "Parkinson Disease 22, Autosomal Dominant"], "synonym_kw": ["PARK22", "Parkinson Disease 22, Autosomal Dominant"], "iri": "http://purl.obolibrary.org/obo/OMIM_616710", "label_eng": ["Parkinson Disease 22, Autosomal Dominant; PARK22"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_616710", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_616710", "category_kw": ["disease"], "id_eng": "OMIM:616710", "leaf": true, "category_eng": ["disease"], "label_kw": ["Parkinson Disease 22, Autosomal Dominant; PARK22"], "synonym": ["PARK22", "Parkinson Disease 22, Autosomal Dominant"], "score": 26.418837, "id_std": "OMIM:616710", "id": "OMIM:616710", "iri_std": "http://purl.obolibrary.org/obo/OMIM_616710", "id_kw": "OMIM:616710", "_version_": 1564148007069286400, "category": ["disease"], "category_std": ["disease"], "label": ["Parkinson Disease 22, Autosomal Dominant; PARK22"], "label_std": ["Parkinson Disease 22, Autosomal Dominant; PARK22"], "synonym_std": ["PARK22", "Parkinson Disease 22, Autosomal Dominant"]}, {"equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_2828", "http://purl.obolibrary.org/obo/UMLS_CN202824"], "synonym_eng": ["YOPD", "Early-onset Parkinson disease"], "synonym_kw": ["YOPD", "Early-onset Parkinson disease"], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_2828", "http://purl.obolibrary.org/obo/UMLS_CN202824"], "iri": "http://purl.obolibrary.org/obo/DOID_0060894", "_version_": 1564147993133711360, "label_eng": ["early-onset Parkinson disease"], "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_2828", "http://purl.obolibrary.org/obo/UMLS_CN202824"], "iri_kw": "http://purl.obolibrary.org/obo/DOID_0060894", "iri_eng": "http://purl.obolibrary.org/obo/DOID_0060894", "category_kw": ["disease"], "definition_std": ["Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms."], "id_eng": "DOID:0060894", "definition_kw": ["Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms."], "category_eng": ["disease"], "equivalent_curie_kw": ["Orphanet:2828", "UMLS:CN202824"], "label_kw": ["early-onset Parkinson disease"], "synonym": ["YOPD", "Early-onset Parkinson disease"], "score": 26.418837, "id_std": "DOID:0060894", "equivalent_curie_std": ["Orphanet:2828", "UMLS:CN202824"], "id": "DOID:0060894", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_2828", "http://purl.obolibrary.org/obo/UMLS_CN202824"], "iri_std": "http://purl.obolibrary.org/obo/DOID_0060894", "id_kw": "DOID:0060894", "leaf": false, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms."], "equivalent_curie_eng": ["Orphanet:2828", "UMLS:CN202824"], "label": ["early-onset Parkinson disease"], "label_std": ["early-onset Parkinson disease"], "definition": ["Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms."], "synonym_std": ["YOPD", "Early-onset Parkinson disease"], "equivalent_curie": ["Orphanet:2828", "UMLS:CN202824"]}, {"taxon_eng": "NCBITaxon:9258", "taxon_label_synonym": ["platypus", "Ornythorhynchus anatinus", "duckbill platypus", "duck-billed platypus"], "taxon_std": "NCBITaxon:9258", "taxon_label_eng": "Ornithorhynchus anatinus", "synonym_kw": ["Parkinson disease 7 domain-containing protein 1"], "iri": "http://www.ncbi.nlm.nih.gov/gene/100083988", "label_eng": ["PDDC1"], "taxon_kw": "NCBITaxon:9258", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/100083988", "taxon_label_kw": "Ornithorhynchus anatinus", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/100083988", "category_kw": ["gene"], "taxon_label_synonym_std": ["platypus", "Ornythorhynchus anatinus", "duckbill platypus", "duck-billed platypus"], "synonym_eng": ["Parkinson disease 7 domain-containing protein 1"], "id_kw": "NCBIGene:100083988", "id_eng": "NCBIGene:100083988", "category": ["gene"], "category_eng": ["gene"], "_version_": 1564148080045981697, "label_kw": ["PDDC1"], "synonym": ["Parkinson disease 7 domain-containing protein 1"], "score": 26.418837, "id_std": "NCBIGene:100083988", "id": "NCBIGene:100083988", "iri_std": "http://www.ncbi.nlm.nih.gov/gene/100083988", "taxon": "NCBITaxon:9258", "leaf": true, "taxon_label_synonym_kw": ["platypus", "Ornythorhynchus anatinus", "duckbill platypus", "duck-billed platypus"], "category_std": ["gene"], "label": ["PDDC1"], "taxon_label_std": "Ornithorhynchus anatinus", "label_std": ["PDDC1"], "synonym_std": ["Parkinson disease 7 domain-containing protein 1"], "taxon_label_synonym_eng": ["platypus", "Ornythorhynchus anatinus", "duckbill platypus", "duck-billed platypus"], "taxon_label": "Ornithorhynchus anatinus"}, {"taxon_eng": "NCBITaxon:9823", "taxon_label_synonym": ["swine", "pigs", "wild boar", "Sus scrofus", "pig"], "taxon_std": "NCBITaxon:9823", "equivalent_curie": ["ENSEMBL:ENSSSCG00000012846"], "taxon_label_eng": "Sus scrofa", "synonym_kw": ["Parkinson disease 7 domain-containing protein 1"], "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSSSCG00000012846"], "iri": "http://www.ncbi.nlm.nih.gov/gene/100511802", "_version_": 1564148129207418880, "label_eng": ["PDDC1"], "taxon_kw": "NCBITaxon:9823", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/100511802", "taxon_label_kw": "Sus scrofa", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/100511802", "category_kw": ["gene"], "taxon_label_synonym_std": ["swine", "pigs", "wild boar", "Sus scrofus", "pig"], "synonym_eng": ["Parkinson disease 7 domain-containing protein 1"], "id_kw": "NCBIGene:100511802", "id_eng": "NCBIGene:100511802", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["ENSEMBL:ENSSSCG00000012846"], "label_kw": ["PDDC1"], "synonym": ["Parkinson disease 7 domain-containing protein 1"], "score": 26.418837, "id_std": "NCBIGene:100511802", "equivalent_curie_std": ["ENSEMBL:ENSSSCG00000012846"], "id": "NCBIGene:100511802", "equivalent_iri": ["http://identifiers.org/ensembl/ENSSSCG00000012846"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/100511802", "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSSSCG00000012846"], "taxon": "NCBITaxon:9823", "leaf": true, "taxon_label_synonym_kw": ["swine", "pigs", "wild boar", "Sus scrofus", "pig"], "category_std": ["gene"], "equivalent_curie_eng": ["ENSEMBL:ENSSSCG00000012846"], "label": ["PDDC1"], "taxon_label_std": "Sus scrofa", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSSSCG00000012846"], "label_std": ["PDDC1"], "synonym_std": ["Parkinson disease 7 domain-containing protein 1"], "taxon_label_synonym_eng": ["swine", "pigs", "wild boar", "Sus scrofus", "pig"], "taxon_label": "Sus scrofa"}, {"taxon_eng": "NCBITaxon:28377", "taxon_label_synonym": ["Carolina anole", "green anole"], "taxon_std": "NCBITaxon:28377", "equivalent_curie": ["ENSEMBL:ENSACAG00000015262"], "taxon_label_eng": "Anolis carolinensis", "synonym_kw": ["Parkinson disease 7 domain-containing protein 1"], "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSACAG00000015262"], "iri": "http://www.ncbi.nlm.nih.gov/gene/100552437", "_version_": 1564148057754304514, "label_eng": ["pddc1"], "taxon_kw": "NCBITaxon:28377", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/100552437", "taxon_label_kw": "Anolis carolinensis", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/100552437", "category_kw": ["gene"], "taxon_label_synonym_std": ["Carolina anole", "green anole"], "synonym_eng": ["Parkinson disease 7 domain-containing protein 1"], "id_kw": "NCBIGene:100552437", "id_eng": "NCBIGene:100552437", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["ENSEMBL:ENSACAG00000015262"], "label_kw": ["pddc1"], "synonym": ["Parkinson disease 7 domain-containing protein 1"], "score": 26.418837, "id_std": "NCBIGene:100552437", "equivalent_curie_std": ["ENSEMBL:ENSACAG00000015262"], "id": "NCBIGene:100552437", "equivalent_iri": ["http://identifiers.org/ensembl/ENSACAG00000015262"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/100552437", "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSACAG00000015262"], "taxon": "NCBITaxon:28377", "leaf": true, "taxon_label_synonym_kw": ["Carolina anole", "green anole"], "category_std": ["gene"], "equivalent_curie_eng": ["ENSEMBL:ENSACAG00000015262"], "label": ["pddc1"], "taxon_label_std": "Anolis carolinensis", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSACAG00000015262"], "label_std": ["pddc1"], "synonym_std": ["Parkinson disease 7 domain-containing protein 1"], "taxon_label_synonym_eng": ["Carolina anole", "green anole"], "taxon_label": "Anolis carolinensis"}, {"taxon_eng": "NCBITaxon:9615", "taxon_label_synonym": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "taxon_std": "NCBITaxon:9615", "equivalent_curie": ["ENSEMBL:ENSCAFG00000006633"], "taxon_label_eng": "Canis lupus familiaris", "synonym_kw": ["Parkinson disease 7 domain-containing protein 1"], "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSCAFG00000006633"], "iri": "http://www.ncbi.nlm.nih.gov/gene/100855533", "_version_": 1564148058561708032, "label_eng": ["PDDC1"], "taxon_kw": "NCBITaxon:9615", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/100855533", "taxon_label_kw": "Canis lupus familiaris", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/100855533", "category_kw": ["gene"], "taxon_label_synonym_std": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "synonym_eng": ["Parkinson disease 7 domain-containing protein 1"], "id_kw": "NCBIGene:100855533", "id_eng": "NCBIGene:100855533", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["ENSEMBL:ENSCAFG00000006633"], "label_kw": ["PDDC1"], "synonym": ["Parkinson disease 7 domain-containing protein 1"], "score": 26.418837, "id_std": "NCBIGene:100855533", "equivalent_curie_std": ["ENSEMBL:ENSCAFG00000006633"], "id": "NCBIGene:100855533", "equivalent_iri": ["http://identifiers.org/ensembl/ENSCAFG00000006633"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/100855533", "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSCAFG00000006633"], "taxon": "NCBITaxon:9615", "leaf": true, "taxon_label_synonym_kw": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "category_std": ["gene"], "equivalent_curie_eng": ["ENSEMBL:ENSCAFG00000006633"], "label": ["PDDC1"], "taxon_label_std": "Canis lupus familiaris", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSCAFG00000006633"], "label_std": ["PDDC1"], "synonym_std": ["Parkinson disease 7 domain-containing protein 1"], "taxon_label_synonym_eng": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "taxon_label": "Canis lupus familiaris"}, {"taxon_eng": "NCBITaxon:9544", "taxon_label_synonym": ["Rhesus monkey", "rhesus macaque", "rhesus monkeys", "rhesus macaques"], "taxon_std": "NCBITaxon:9544", "taxon_label_eng": "Macaca mulatta", "synonym_kw": ["Parkinson disease 7 domain-containing protein 1"], "iri": "http://www.ncbi.nlm.nih.gov/gene/720833", "label_eng": ["PDDC1"], "taxon_kw": "NCBITaxon:9544", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/720833", "taxon_label_kw": "Macaca mulatta", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/720833", "category_kw": ["gene"], "taxon_label_synonym_std": ["Rhesus monkey", "rhesus macaque", "rhesus monkeys", "rhesus macaques"], "synonym_eng": ["Parkinson disease 7 domain-containing protein 1"], "id_kw": "NCBIGene:720833", "id_eng": "NCBIGene:720833", "category": ["gene"], "category_eng": ["gene"], "_version_": 1564148044439486466, "label_kw": ["PDDC1"], "synonym": ["Parkinson disease 7 domain-containing protein 1"], "score": 26.418837, "id_std": "NCBIGene:720833", "id": "NCBIGene:720833", "iri_std": "http://www.ncbi.nlm.nih.gov/gene/720833", "taxon": "NCBITaxon:9544", "leaf": true, "taxon_label_synonym_kw": ["Rhesus monkey", "rhesus macaque", "rhesus monkeys", "rhesus macaques"], "category_std": ["gene"], "label": ["PDDC1"], "taxon_label_std": "Macaca mulatta", "label_std": ["PDDC1"], "synonym_std": ["Parkinson disease 7 domain-containing protein 1"], "taxon_label_synonym_eng": ["Rhesus monkey", "rhesus macaque", "rhesus monkeys", "rhesus macaques"], "taxon_label": "Macaca mulatta"}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3160718"], "synonym_eng": ["PD", "PARKINSON DISEASE, LATE-ONSET; PD", "Park"], "synonym_kw": ["PD", "PARKINSON DISEASE, LATE-ONSET; PD", "Park"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3160718"], "iri": "http://purl.obolibrary.org/obo/OMIM_168600", "_version_": 1564148005231132674, "label_eng": ["Parkinson Disease, Late-Onset"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3160718"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_168600", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_168600", "category_kw": ["disease"], "definition_std": ["See http://www.omim.org/entry/168600"], "id_eng": "OMIM:168600", "definition_kw": ["See http://www.omim.org/entry/168600"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C3160718"], "label_kw": ["Parkinson Disease, Late-Onset"], "synonym": ["PD", "PARKINSON DISEASE, LATE-ONSET; PD", "Park"], "score": 26.418837, "id_std": "OMIM:168600", "equivalent_curie_std": ["UMLS:C3160718"], "id": "OMIM:168600", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3160718"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_168600", "id_kw": "OMIM:168600", "leaf": true, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["See http://www.omim.org/entry/168600"], "equivalent_curie_eng": ["UMLS:C3160718"], "label": ["Parkinson Disease, Late-Onset"], "label_std": ["Parkinson Disease, Late-Onset"], "definition": ["See http://www.omim.org/entry/168600"], "synonym_std": ["PD", "PARKINSON DISEASE, LATE-ONSET; PD", "Park"], "equivalent_curie": ["UMLS:C3160718"]}, {"taxon_eng": "NCBITaxon:13616", "taxon_label_synonym": ["gray short-tailed opossum", "Monodelphis domesticus"], "taxon_std": "NCBITaxon:13616", "taxon_label_eng": "Monodelphis domestica", "synonym_kw": ["Parkinson disease 7 domain-containing protein 1"], "iri": "http://www.ncbi.nlm.nih.gov/gene/100030192", "label_eng": ["PDDC1"], "taxon_kw": "NCBITaxon:13616", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/100030192", "taxon_label_kw": "Monodelphis domestica", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/100030192", "category_kw": ["gene"], "taxon_label_synonym_std": ["gray short-tailed opossum", "Monodelphis domesticus"], "synonym_eng": ["Parkinson disease 7 domain-containing protein 1"], "id_kw": "NCBIGene:100030192", "id_eng": "NCBIGene:100030192", "category": ["gene"], "category_eng": ["gene"], "_version_": 1564148018576359426, "label_kw": ["PDDC1"], "synonym": ["Parkinson disease 7 domain-containing protein 1"], "score": 26.418837, "id_std": "NCBIGene:100030192", "id": "NCBIGene:100030192", "iri_std": "http://www.ncbi.nlm.nih.gov/gene/100030192", "taxon": "NCBITaxon:13616", "leaf": true, "taxon_label_synonym_kw": ["gray short-tailed opossum", "Monodelphis domesticus"], "category_std": ["gene"], "label": ["PDDC1"], "taxon_label_std": "Monodelphis domestica", "label_std": ["PDDC1"], "synonym_std": ["Parkinson disease 7 domain-containing protein 1"], "taxon_label_synonym_eng": ["gray short-tailed opossum", "Monodelphis domesticus"], "taxon_label": "Monodelphis domestica"}, {"taxon_eng": "NCBITaxon:9913", "taxon_label_synonym": ["Bos bovis", "Bos Tauurus", "domestic cattle", "domestic cow", "bovine", "cattle", "cow", "Bos primigenius taurus"], "taxon_std": "NCBITaxon:9913", "equivalent_curie": ["ENSEMBL:ENSBTAG00000010348"], "taxon_label_eng": "Bos taurus", "synonym_kw": ["Parkinson disease 7 domain-containing protein 1"], "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSBTAG00000010348"], "iri": "http://www.ncbi.nlm.nih.gov/gene/513454", "_version_": 1564148136897675264, "label_eng": ["PDDC1"], "taxon_kw": "NCBITaxon:9913", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/513454", "taxon_label_kw": "Bos taurus", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/513454", "category_kw": ["gene"], "taxon_label_synonym_std": ["Bos bovis", "Bos Tauurus", "domestic cattle", "domestic cow", "bovine", "cattle", "cow", "Bos primigenius taurus"], "synonym_eng": ["Parkinson disease 7 domain-containing protein 1"], "id_kw": "NCBIGene:513454", "id_eng": "NCBIGene:513454", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["ENSEMBL:ENSBTAG00000010348"], "label_kw": ["PDDC1"], "synonym": ["Parkinson disease 7 domain-containing protein 1"], "score": 26.418837, "id_std": "NCBIGene:513454", "equivalent_curie_std": ["ENSEMBL:ENSBTAG00000010348"], "id": "NCBIGene:513454", "equivalent_iri": ["http://identifiers.org/ensembl/ENSBTAG00000010348"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/513454", "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSBTAG00000010348"], "taxon": "NCBITaxon:9913", "leaf": true, "taxon_label_synonym_kw": ["Bos bovis", "Bos Tauurus", "domestic cattle", "domestic cow", "bovine", "cattle", "cow", "Bos primigenius taurus"], "category_std": ["gene"], "equivalent_curie_eng": ["ENSEMBL:ENSBTAG00000010348"], "label": ["PDDC1"], "taxon_label_std": "Bos taurus", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSBTAG00000010348"], "label_std": ["PDDC1"], "synonym_std": ["Parkinson disease 7 domain-containing protein 1"], "taxon_label_synonym_eng": ["Bos bovis", "Bos Tauurus", "domestic cattle", "domestic cow", "bovine", "cattle", "cow", "Bos primigenius taurus"], "taxon_label": "Bos taurus"}, {"taxon_eng": "NCBITaxon:9685", "taxon_label_synonym": ["cats", "cat", "domestic cat", "Felis silvestris catus", "Felis domesticus"], "taxon_std": "NCBITaxon:9685", "taxon_label_eng": "Felis catus", "synonym_kw": ["Parkinson disease 7 domain-containing protein 1"], "iri": "http://www.ncbi.nlm.nih.gov/gene/101082778", "label_eng": ["PDDC1"], "taxon_kw": "NCBITaxon:9685", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/101082778", "taxon_label_kw": "Felis catus", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/101082778", "category_kw": ["gene"], "taxon_label_synonym_std": ["cats", "cat", "domestic cat", "Felis silvestris catus", "Felis domesticus"], "synonym_eng": ["Parkinson disease 7 domain-containing protein 1"], "id_kw": "NCBIGene:101082778", "id_eng": "NCBIGene:101082778", "category": ["gene"], "category_eng": ["gene"], "_version_": 1564148141973831682, "label_kw": ["PDDC1"], "synonym": ["Parkinson disease 7 domain-containing protein 1"], "score": 26.418837, "id_std": "NCBIGene:101082778", "id": "NCBIGene:101082778", "iri_std": "http://www.ncbi.nlm.nih.gov/gene/101082778", "taxon": "NCBITaxon:9685", "leaf": true, "taxon_label_synonym_kw": ["cats", "cat", "domestic cat", "Felis silvestris catus", "Felis domesticus"], "category_std": ["gene"], "label": ["PDDC1"], "taxon_label_std": "Felis catus", "label_std": ["PDDC1"], "synonym_std": ["Parkinson disease 7 domain-containing protein 1"], "taxon_label_synonym_eng": ["cats", "cat", "domestic cat", "Felis silvestris catus", "Felis domesticus"], "taxon_label": "Felis catus"}, {"taxon_eng": "NCBITaxon:10116", "taxon_label_synonym": ["brown rat", "Norway rat", "rat", "Rattus sp. strain Wistar", "Rattus rattiscus", "Rattus norwegicus", "rats", "Gunn rats", "Rattus norvegicus8"], "taxon_std": "NCBITaxon:10116", "equivalent_curie": ["RGD:61797"], "taxon_label_eng": "Rattus norvegicus", "synonym_kw": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "Prkn", "parkin RBR E3 ubiquitin protein ligase", "parkin variant SV5DEL", "parkinson protein 2, E3 ubiquitin protein ligase", "Park2", "E3 ubiquitin-protein ligase parkin", "Park"], "equivalent_iri_std": ["http://rgd.mcw.edu/rgdweb/report/gene/main.html?id=61797"], "iri": "http://www.ncbi.nlm.nih.gov/gene/56816", "_version_": 1564148092849094657, "label_eng": ["Park2"], "taxon_kw": "NCBITaxon:10116", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/56816", "taxon_label_kw": "Rattus norvegicus", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/56816", "category_kw": ["gene"], "taxon_label_synonym_std": ["brown rat", "Norway rat", "rat", "Rattus sp. strain Wistar", "Rattus rattiscus", "Rattus norwegicus", "rats", "Gunn rats", "Rattus norvegicus8"], "synonym_eng": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "Prkn", "parkin RBR E3 ubiquitin protein ligase", "parkin variant SV5DEL", "parkinson protein 2, E3 ubiquitin protein ligase", "Park2", "E3 ubiquitin-protein ligase parkin", "Park"], "id_kw": "NCBIGene:56816", "id_eng": "NCBIGene:56816", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["RGD:61797"], "label_kw": ["Park2"], "synonym": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "Prkn", "parkin RBR E3 ubiquitin protein ligase", "parkin variant SV5DEL", "parkinson protein 2, E3 ubiquitin protein ligase", "Park2", "E3 ubiquitin-protein ligase parkin", "Park"], "score": 25.796516, "id_std": "NCBIGene:56816", "equivalent_curie_std": ["RGD:61797"], "id": "NCBIGene:56816", "equivalent_iri": ["http://rgd.mcw.edu/rgdweb/report/gene/main.html?id=61797"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/56816", "equivalent_iri_kw": ["http://rgd.mcw.edu/rgdweb/report/gene/main.html?id=61797"], "taxon": "NCBITaxon:10116", "leaf": true, "taxon_label_synonym_kw": ["brown rat", "Norway rat", "rat", "Rattus sp. strain Wistar", "Rattus rattiscus", "Rattus norwegicus", "rats", "Gunn rats", "Rattus norvegicus8"], "category_std": ["gene"], "equivalent_curie_eng": ["RGD:61797"], "label": ["Park2"], "taxon_label_std": "Rattus norvegicus", "equivalent_iri_eng": ["http://rgd.mcw.edu/rgdweb/report/gene/main.html?id=61797"], "label_std": ["Park2"], "synonym_std": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "Prkn", "parkin RBR E3 ubiquitin protein ligase", "parkin variant SV5DEL", "parkinson protein 2, E3 ubiquitin protein ligase", "Park2", "E3 ubiquitin-protein ligase parkin", "Park"], "taxon_label_synonym_eng": ["brown rat", "Norway rat", "rat", "Rattus sp. strain Wistar", "Rattus rattiscus", "Rattus norwegicus", "rats", "Gunn rats", "Rattus norvegicus8"], "taxon_label": "Rattus norvegicus"}, {"taxon_eng": "NCBITaxon:9031", "taxon_label_synonym": ["chickens", "chicken", "bantam", "Gallus domesticus", "Gallus gallus domesticus"], "taxon_std": "NCBITaxon:9031", "equivalent_curie": ["ENSEMBL:ENSGALG00000011562"], "taxon_label_eng": "Gallus gallus", "synonym_kw": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "parkin RBR E3 ubiquitin protein ligase", "E3 ubiquitin-protein ligase parkin"], "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSGALG00000011562"], "iri": "http://www.ncbi.nlm.nih.gov/gene/421577", "_version_": 1564148062463459328, "label_eng": ["PARK2"], "taxon_kw": "NCBITaxon:9031", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/421577", "taxon_label_kw": "Gallus gallus", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/421577", "category_kw": ["gene"], "taxon_label_synonym_std": ["chickens", "chicken", "bantam", "Gallus domesticus", "Gallus gallus domesticus"], "synonym_eng": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "parkin RBR E3 ubiquitin protein ligase", "E3 ubiquitin-protein ligase parkin"], "id_kw": "NCBIGene:421577", "id_eng": "NCBIGene:421577", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["ENSEMBL:ENSGALG00000011562"], "label_kw": ["PARK2"], "synonym": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "parkin RBR E3 ubiquitin protein ligase", "E3 ubiquitin-protein ligase parkin"], "score": 25.796516, "id_std": "NCBIGene:421577", "equivalent_curie_std": ["ENSEMBL:ENSGALG00000011562"], "id": "NCBIGene:421577", "equivalent_iri": ["http://identifiers.org/ensembl/ENSGALG00000011562"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/421577", "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSGALG00000011562"], "taxon": "NCBITaxon:9031", "leaf": true, "taxon_label_synonym_kw": ["chickens", "chicken", "bantam", "Gallus domesticus", "Gallus gallus domesticus"], "category_std": ["gene"], "equivalent_curie_eng": ["ENSEMBL:ENSGALG00000011562"], "label": ["PARK2"], "taxon_label_std": "Gallus gallus", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSGALG00000011562"], "label_std": ["PARK2"], "synonym_std": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "parkin RBR E3 ubiquitin protein ligase", "E3 ubiquitin-protein ligase parkin"], "taxon_label_synonym_eng": ["chickens", "chicken", "bantam", "Gallus domesticus", "Gallus gallus domesticus"], "taxon_label": "Gallus gallus"}, {"taxon_eng": "NCBITaxon:9598", "taxon_label_synonym": ["Chimpansee troglodytes", "chimpanzee"], "taxon_std": "NCBITaxon:9598", "equivalent_curie": ["ENSEMBL:ENSPTRG00000018781"], "taxon_label_eng": "Pan troglodytes", "synonym_kw": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "parkin RBR E3 ubiquitin protein ligase", "PARK2", "E3 ubiquitin-protein ligase parkin"], "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSPTRG00000018781"], "iri": "http://www.ncbi.nlm.nih.gov/gene/741350", "_version_": 1564148019813679107, "label_eng": ["PRKN"], "taxon_kw": "NCBITaxon:9598", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/741350", "taxon_label_kw": "Pan troglodytes", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/741350", "category_kw": ["gene"], "taxon_label_synonym_std": ["Chimpansee troglodytes", "chimpanzee"], "synonym_eng": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "parkin RBR E3 ubiquitin protein ligase", "PARK2", "E3 ubiquitin-protein ligase parkin"], "id_kw": "NCBIGene:741350", "id_eng": "NCBIGene:741350", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["ENSEMBL:ENSPTRG00000018781"], "label_kw": ["PRKN"], "synonym": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "parkin RBR E3 ubiquitin protein ligase", "PARK2", "E3 ubiquitin-protein ligase parkin"], "score": 25.796516, "id_std": "NCBIGene:741350", "equivalent_curie_std": ["ENSEMBL:ENSPTRG00000018781"], "id": "NCBIGene:741350", "equivalent_iri": ["http://identifiers.org/ensembl/ENSPTRG00000018781"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/741350", "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSPTRG00000018781"], "taxon": "NCBITaxon:9598", "leaf": true, "taxon_label_synonym_kw": ["Chimpansee troglodytes", "chimpanzee"], "category_std": ["gene"], "equivalent_curie_eng": ["ENSEMBL:ENSPTRG00000018781"], "label": ["PRKN"], "taxon_label_std": "Pan troglodytes", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSPTRG00000018781"], "label_std": ["PRKN"], "synonym_std": ["Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "parkin RBR E3 ubiquitin protein ligase", "PARK2", "E3 ubiquitin-protein ligase parkin"], "taxon_label_synonym_eng": ["Chimpansee troglodytes", "chimpanzee"], "taxon_label": "Pan troglodytes"}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/MESH_C565115", "http://purl.obolibrary.org/obo/UMLS_C1852223"], "synonym_eng": ["DEMENTIA/PARKINSONISM WITH NON-ALZHEIMER AMYLOID PLAQUES"], "synonym_kw": ["DEMENTIA/PARKINSONISM WITH NON-ALZHEIMER AMYLOID PLAQUES"], "iri": "http://purl.obolibrary.org/obo/OMIM_125320", "_version_": 1564147978324672515, "label_eng": ["Dementia/Parkinsonism With Non-Alzheimer Amyloid Plaques"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/MESH_C565115", "http://purl.obolibrary.org/obo/UMLS_C1852223"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_125320", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_125320", "category_kw": ["disease"], "id_eng": "OMIM:125320", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/MESH_C565115", "http://purl.obolibrary.org/obo/UMLS_C1852223"], "category_eng": ["disease"], "equivalent_curie_kw": ["MESH:C565115", "UMLS:C1852223"], "label_kw": ["Dementia/Parkinsonism With Non-Alzheimer Amyloid Plaques"], "synonym": ["DEMENTIA/PARKINSONISM WITH NON-ALZHEIMER AMYLOID PLAQUES"], "score": 25.713886, "id_std": "OMIM:125320", "equivalent_curie_std": ["MESH:C565115", "UMLS:C1852223"], "id": "OMIM:125320", "equivalent_iri": ["http://purl.obolibrary.org/obo/MESH_C565115", "http://purl.obolibrary.org/obo/UMLS_C1852223"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_125320", "id_kw": "OMIM:125320", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["MESH:C565115", "UMLS:C1852223"], "label": ["Dementia/Parkinsonism With Non-Alzheimer Amyloid Plaques"], "label_std": ["Dementia/Parkinsonism With Non-Alzheimer Amyloid Plaques"], "synonym_std": ["DEMENTIA/PARKINSONISM WITH NON-ALZHEIMER AMYLOID PLAQUES"], "equivalent_curie": ["MESH:C565115", "UMLS:C1852223"]}, {"equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_363654", "http://purl.obolibrary.org/obo/UMLS_C3806722"], "synonym_eng": ["PARKINSONISM WITH SPASTICITY, X-LINKED; XPDS", "XPDS"], "synonym_kw": ["PARKINSONISM WITH SPASTICITY, X-LINKED; XPDS", "XPDS"], "iri": "http://purl.obolibrary.org/obo/OMIM_300911", "_version_": 1564148008824602625, "label_eng": ["X-linked parkinsonism-spasticity syndrome"], "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_363654", "http://purl.obolibrary.org/obo/UMLS_C3806722"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_300911", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_300911", "category_kw": ["disease"], "id_eng": "OMIM:300911", "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_363654", "http://purl.obolibrary.org/obo/UMLS_C3806722"], "category_eng": ["disease"], "equivalent_curie_kw": ["Orphanet:363654", "UMLS:C3806722"], "label_kw": ["X-linked parkinsonism-spasticity syndrome"], "synonym": ["PARKINSONISM WITH SPASTICITY, X-LINKED; XPDS", "XPDS"], "score": 25.713886, "id_std": "OMIM:300911", "equivalent_curie_std": ["Orphanet:363654", "UMLS:C3806722"], "id": "OMIM:300911", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_363654", "http://purl.obolibrary.org/obo/UMLS_C3806722"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_300911", "id_kw": "OMIM:300911", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["Orphanet:363654", "UMLS:C3806722"], "label": ["X-linked parkinsonism-spasticity syndrome"], "label_std": ["X-linked parkinsonism-spasticity syndrome"], "synonym_std": ["PARKINSONISM WITH SPASTICITY, X-LINKED; XPDS", "XPDS"], "equivalent_curie": ["Orphanet:363654", "UMLS:C3806722"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C1843211"], "synonym_eng": ["PARK11", "PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11"], "synonym_kw": ["PARK11", "PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11"], "iri": "http://purl.obolibrary.org/obo/OMIM_607688", "_version_": 1564148011764809730, "label_eng": ["Parkinson Disease 11, Autosomal Dominant, Susceptibility to"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C1843211"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_607688", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_607688", "category_kw": ["disease"], "id_eng": "OMIM:607688", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C1843211"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C1843211"], "label_kw": ["Parkinson Disease 11, Autosomal Dominant, Susceptibility to"], "synonym": ["PARK11", "PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11"], "score": 25.713886, "id_std": "OMIM:607688", "equivalent_curie_std": ["UMLS:C1843211"], "id": "OMIM:607688", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C1843211"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_607688", "id_kw": "OMIM:607688", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["UMLS:C1843211"], "label": ["Parkinson Disease 11, Autosomal Dominant, Susceptibility to"], "label_std": ["Parkinson Disease 11, Autosomal Dominant, Susceptibility to"], "synonym_std": ["PARK11", "PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11"], "equivalent_curie": ["UMLS:C1843211"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C1853202"], "synonym_eng": ["PARK13", "PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13"], "synonym_kw": ["PARK13", "PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13"], "iri": "http://purl.obolibrary.org/obo/OMIM_610297", "_version_": 1564147997653073921, "label_eng": ["Parkinson Disease 13, Autosomal Dominant, Susceptibility to"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C1853202"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_610297", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_610297", "category_kw": ["disease"], "id_eng": "OMIM:610297", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C1853202"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C1853202"], "label_kw": ["Parkinson Disease 13, Autosomal Dominant, Susceptibility to"], "synonym": ["PARK13", "PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13"], "score": 25.713886, "id_std": "OMIM:610297", "equivalent_curie_std": ["UMLS:C1853202"], "id": "OMIM:610297", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C1853202"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_610297", "id_kw": "OMIM:610297", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["UMLS:C1853202"], "label": ["Parkinson Disease 13, Autosomal Dominant, Susceptibility to"], "label_std": ["Parkinson Disease 13, Autosomal Dominant, Susceptibility to"], "synonym_std": ["PARK13", "PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13"], "equivalent_curie": ["UMLS:C1853202"]}, {"taxon_eng": "NCBITaxon:9615", "taxon_label_synonym": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "taxon_std": "NCBITaxon:9615", "equivalent_curie": ["ENSEMBL:ENSCAFG00000031406"], "taxon_label_eng": "Canis lupus familiaris", "synonym_kw": ["Parkinson disease 7 domain-containing protein 1", "PDDC1"], "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSCAFG00000031406"], "iri": "http://www.ncbi.nlm.nih.gov/gene/610760", "_version_": 1564148024082432000, "label_eng": ["LOC610760"], "taxon_kw": "NCBITaxon:9615", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/610760", "taxon_label_kw": "Canis lupus familiaris", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/610760", "category_kw": ["gene"], "taxon_label_synonym_std": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "synonym_eng": ["Parkinson disease 7 domain-containing protein 1", "PDDC1"], "id_kw": "NCBIGene:610760", "id_eng": "NCBIGene:610760", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["ENSEMBL:ENSCAFG00000031406"], "label_kw": ["LOC610760"], "synonym": ["Parkinson disease 7 domain-containing protein 1", "PDDC1"], "score": 25.713886, "id_std": "NCBIGene:610760", "equivalent_curie_std": ["ENSEMBL:ENSCAFG00000031406"], "id": "NCBIGene:610760", "equivalent_iri": ["http://identifiers.org/ensembl/ENSCAFG00000031406"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/610760", "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSCAFG00000031406"], "taxon": "NCBITaxon:9615", "leaf": true, "taxon_label_synonym_kw": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "category_std": ["gene"], "equivalent_curie_eng": ["ENSEMBL:ENSCAFG00000031406"], "label": ["LOC610760"], "taxon_label_std": "Canis lupus familiaris", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSCAFG00000031406"], "label_std": ["LOC610760"], "synonym_std": ["Parkinson disease 7 domain-containing protein 1", "PDDC1"], "taxon_label_synonym_eng": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "taxon_label": "Canis lupus familiaris"}, {"synonym_eng": ["LOPD", "Autosomal dominant late-onset Parkinson disease"], "synonym_kw": ["LOPD", "Autosomal dominant late-onset Parkinson disease"], "iri": "http://www.orpha.net/ORDO/Orphanet_411602", "label_eng": ["Hereditary late-onset Parkinson disease"], "iri_kw": "http://www.orpha.net/ORDO/Orphanet_411602", "iri_eng": "http://www.orpha.net/ORDO/Orphanet_411602", "category_kw": ["disease"], "definition_std": ["Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID)."], "id_eng": "Orphanet:411602", "definition_kw": ["Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID)."], "category_eng": ["disease"], "_version_": 1564148003624714241, "label_kw": ["Hereditary late-onset Parkinson disease"], "synonym": ["LOPD", "Autosomal dominant late-onset Parkinson disease"], "score": 25.713886, "id_std": "Orphanet:411602", "id": "Orphanet:411602", "iri_std": "http://www.orpha.net/ORDO/Orphanet_411602", "id_kw": "Orphanet:411602", "leaf": false, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID)."], "label": ["Hereditary late-onset Parkinson disease"], "label_std": ["Hereditary late-onset Parkinson disease"], "definition": ["Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID)."], "synonym_std": ["LOPD", "Autosomal dominant late-onset Parkinson disease"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3150899"], "synonym_eng": ["PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5", "PARK5"], "synonym_kw": ["PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5", "PARK5"], "iri": "http://purl.obolibrary.org/obo/OMIM_613643", "_version_": 1564148004296851457, "label_eng": ["Parkinson Disease 5, Autosomal Dominant, Susceptibility to"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3150899"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_613643", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_613643", "category_kw": ["disease"], "id_eng": "OMIM:613643", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3150899"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C3150899"], "label_kw": ["Parkinson Disease 5, Autosomal Dominant, Susceptibility to"], "synonym": ["PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5", "PARK5"], "score": 25.713886, "id_std": "OMIM:613643", "equivalent_curie_std": ["UMLS:C3150899"], "id": "OMIM:613643", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3150899"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_613643", "id_kw": "OMIM:613643", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["UMLS:C3150899"], "label": ["Parkinson Disease 5, Autosomal Dominant, Susceptibility to"], "label_std": ["Parkinson Disease 5, Autosomal Dominant, Susceptibility to"], "synonym_std": ["PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5", "PARK5"], "equivalent_curie": ["UMLS:C3150899"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3280271"], "synonym_eng": ["PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK18", "PARK18"], "synonym_kw": ["PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK18", "PARK18"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3280271"], "iri": "http://purl.obolibrary.org/obo/OMIM_614251", "_version_": 1564148004669095936, "label_eng": ["Parkinson Disease 18, Autosomal Dominant, Susceptibility to"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3280271"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_614251", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_614251", "category_kw": ["disease"], "definition_std": ["See http://www.omim.org/entry/614251"], "id_eng": "OMIM:614251", "definition_kw": ["See http://www.omim.org/entry/614251"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C3280271"], "label_kw": ["Parkinson Disease 18, Autosomal Dominant, Susceptibility to"], "synonym": ["PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK18", "PARK18"], "score": 25.713886, "id_std": "OMIM:614251", "equivalent_curie_std": ["UMLS:C3280271"], "id": "OMIM:614251", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3280271"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_614251", "id_kw": "OMIM:614251", "leaf": true, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["See http://www.omim.org/entry/614251"], "equivalent_curie_eng": ["UMLS:C3280271"], "label": ["Parkinson Disease 18, Autosomal Dominant, Susceptibility to"], "label_std": ["Parkinson Disease 18, Autosomal Dominant, Susceptibility to"], "definition": ["See http://www.omim.org/entry/614251"], "synonym_std": ["PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK18", "PARK18"], "equivalent_curie": ["UMLS:C3280271"]}, {"taxon_eng": "NCBITaxon:9598", "taxon_label_synonym": ["Chimpansee troglodytes", "chimpanzee"], "taxon_std": "NCBITaxon:9598", "taxon_label_eng": "Pan troglodytes", "synonym_kw": ["LOC100610217", "Parkinson disease 7 domain-containing protein 1"], "iri": "http://www.ncbi.nlm.nih.gov/gene/740015", "label_eng": ["PDDC1"], "taxon_kw": "NCBITaxon:9598", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/740015", "taxon_label_kw": "Pan troglodytes", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/740015", "category_kw": ["gene"], "taxon_label_synonym_std": ["Chimpansee troglodytes", "chimpanzee"], "synonym_eng": ["LOC100610217", "Parkinson disease 7 domain-containing protein 1"], "id_kw": "NCBIGene:740015", "id_eng": "NCBIGene:740015", "category": ["gene"], "category_eng": ["gene"], "_version_": 1564148299845337090, "label_kw": ["PDDC1"], "synonym": ["LOC100610217", "Parkinson disease 7 domain-containing protein 1"], "score": 25.713886, "id_std": "NCBIGene:740015", "id": "NCBIGene:740015", "iri_std": "http://www.ncbi.nlm.nih.gov/gene/740015", "taxon": "NCBITaxon:9598", "leaf": true, "taxon_label_synonym_kw": ["Chimpansee troglodytes", "chimpanzee"], "category_std": ["gene"], "label": ["PDDC1"], "taxon_label_std": "Pan troglodytes", "label_std": ["PDDC1"], "synonym_std": ["LOC100610217", "Parkinson disease 7 domain-containing protein 1"], "taxon_label_synonym_eng": ["Chimpansee troglodytes", "chimpanzee"], "taxon_label": "Pan troglodytes"}, {"taxon_eng": "NCBITaxon:9796", "taxon_label_synonym": ["horse", "domestic horse", "Equus przewalskii f. caballus", "Equus ferus caballus", "equine", "Equus przewalskii forma caballus"], "taxon_std": "NCBITaxon:9796", "taxon_label_eng": "Equus caballus", "synonym_kw": ["LOW QUALITY PROTEIN: Parkinson disease 7 domain-containing protein 1"], "iri": "http://www.ncbi.nlm.nih.gov/gene/100147623", "label_eng": ["PDDC1"], "taxon_kw": "NCBITaxon:9796", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/100147623", "taxon_label_kw": "Equus caballus", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/100147623", "category_kw": ["gene"], "taxon_label_synonym_std": ["horse", "domestic horse", "Equus przewalskii f. caballus", "Equus ferus caballus", "equine", "Equus przewalskii forma caballus"], "synonym_eng": ["LOW QUALITY PROTEIN: Parkinson disease 7 domain-containing protein 1"], "id_kw": "NCBIGene:100147623", "id_eng": "NCBIGene:100147623", "category": ["gene"], "category_eng": ["gene"], "_version_": 1564148063311757313, "label_kw": ["PDDC1"], "synonym": ["LOW QUALITY PROTEIN: Parkinson disease 7 domain-containing protein 1"], "score": 24.624176, "id_std": "NCBIGene:100147623", "id": "NCBIGene:100147623", "iri_std": "http://www.ncbi.nlm.nih.gov/gene/100147623", "taxon": "NCBITaxon:9796", "leaf": true, "taxon_label_synonym_kw": ["horse", "domestic horse", "Equus przewalskii f. caballus", "Equus ferus caballus", "equine", "Equus przewalskii forma caballus"], "category_std": ["gene"], "label": ["PDDC1"], "taxon_label_std": "Equus caballus", "label_std": ["PDDC1"], "synonym_std": ["LOW QUALITY PROTEIN: Parkinson disease 7 domain-containing protein 1"], "taxon_label_synonym_eng": ["horse", "domestic horse", "Equus przewalskii f. caballus", "Equus ferus caballus", "equine", "Equus przewalskii forma caballus"], "taxon_label": "Equus caballus"}, {"taxon_eng": "NCBITaxon:31033", "taxon_label_synonym": ["Fugu rubripes", "Tetraodon rubripes", "tiger puffer", "Takifugu rubripes (Temminck & Schlegel, 1850)", "Sphaeroides rubripes", "torafugu"], "taxon_std": "NCBITaxon:31033", "taxon_label_eng": "Takifugu rubripes", "synonym_kw": ["LOC101077938", "CD151 antigen-like", "Parkinson disease 7 domain-containing protein 1-like"], "iri": "http://www.ncbi.nlm.nih.gov/gene/101078161", "label_eng": ["LOC101078161"], "taxon_kw": "NCBITaxon:31033", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/101078161", "taxon_label_kw": "Takifugu rubripes", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/101078161", "category_kw": ["gene"], "taxon_label_synonym_std": ["Fugu rubripes", "Tetraodon rubripes", "tiger puffer", "Takifugu rubripes (Temminck & Schlegel, 1850)", "Sphaeroides rubripes", "torafugu"], "synonym_eng": ["LOC101077938", "CD151 antigen-like", "Parkinson disease 7 domain-containing protein 1-like"], "id_kw": "NCBIGene:101078161", "id_eng": "NCBIGene:101078161", "category": ["gene"], "category_eng": ["gene"], "_version_": 1564148032555974658, "label_kw": ["LOC101078161"], "synonym": ["LOC101077938", "CD151 antigen-like", "Parkinson disease 7 domain-containing protein 1-like"], "score": 24.624176, "id_std": "NCBIGene:101078161", "id": "NCBIGene:101078161", "iri_std": "http://www.ncbi.nlm.nih.gov/gene/101078161", "taxon": "NCBITaxon:31033", "leaf": true, "taxon_label_synonym_kw": ["Fugu rubripes", "Tetraodon rubripes", "tiger puffer", "Takifugu rubripes (Temminck & Schlegel, 1850)", "Sphaeroides rubripes", "torafugu"], "category_std": ["gene"], "label": ["LOC101078161"], "taxon_label_std": "Takifugu rubripes", "label_std": ["LOC101078161"], "synonym_std": ["LOC101077938", "CD151 antigen-like", "Parkinson disease 7 domain-containing protein 1-like"], "taxon_label_synonym_eng": ["Fugu rubripes", "Tetraodon rubripes", "tiger puffer", "Takifugu rubripes (Temminck & Schlegel, 1850)", "Sphaeroides rubripes", "torafugu"], "taxon_label": "Takifugu rubripes"}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C1861668", "http://purl.obolibrary.org/obo/MESH_C538079"], "synonym_eng": ["CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM"], "synonym_kw": ["CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM"], "iri": "http://purl.obolibrary.org/obo/OMIM_118301", "_version_": 1564147987823722496, "label_eng": ["Charcot-Marie-Tooth Disease With Ptosis and Parkinsonism"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C1861668", "http://purl.obolibrary.org/obo/MESH_C538079"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_118301", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_118301", "category_kw": ["disease"], "id_eng": "OMIM:118301", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C1861668", "http://purl.obolibrary.org/obo/MESH_C538079"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C1861668", "MESH:C538079"], "label_kw": ["Charcot-Marie-Tooth Disease With Ptosis and Parkinsonism"], "synonym": ["CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM"], "score": 24.624176, "id_std": "OMIM:118301", "equivalent_curie_std": ["UMLS:C1861668", "MESH:C538079"], "id": "OMIM:118301", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C1861668", "http://purl.obolibrary.org/obo/MESH_C538079"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_118301", "id_kw": "OMIM:118301", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["UMLS:C1861668", "MESH:C538079"], "label": ["Charcot-Marie-Tooth Disease With Ptosis and Parkinsonism"], "label_std": ["Charcot-Marie-Tooth Disease With Ptosis and Parkinsonism"], "synonym_std": ["CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM"], "equivalent_curie": ["UMLS:C1861668", "MESH:C538079"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C2751067", "http://www.orpha.net/ORDO/Orphanet_238455", "http://purl.obolibrary.org/obo/MESH_C567730"], "synonym_eng": ["PARKINSONISM-DYSTONIA, INFANTILE; PKDYS", "Dopamine Transporter Deficiency Syndrome", "PKDYS", "IPD"], "synonym_kw": ["PARKINSONISM-DYSTONIA, INFANTILE; PKDYS", "Dopamine Transporter Deficiency Syndrome", "PKDYS", "IPD"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C2751067", "http://www.orpha.net/ORDO/Orphanet_238455", "http://purl.obolibrary.org/obo/MESH_C567730"], "iri": "http://purl.obolibrary.org/obo/OMIM_613135", "_version_": 1564148004080844800, "label_eng": ["Infantile dystonia-parkinsonism"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C2751067", "http://www.orpha.net/ORDO/Orphanet_238455", "http://purl.obolibrary.org/obo/MESH_C567730"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_613135", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_613135", "category_kw": ["disease"], "definition_std": ["Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal."], "id_eng": "OMIM:613135", "definition_kw": ["Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal."], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C2751067", "Orphanet:238455", "MESH:C567730"], "label_kw": ["Infantile dystonia-parkinsonism"], "synonym": ["PARKINSONISM-DYSTONIA, INFANTILE; PKDYS", "Dopamine Transporter Deficiency Syndrome", "PKDYS", "IPD"], "score": 24.624176, "id_std": "OMIM:613135", "equivalent_curie_std": ["UMLS:C2751067", "Orphanet:238455", "MESH:C567730"], "id": "OMIM:613135", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C2751067", "http://www.orpha.net/ORDO/Orphanet_238455", "http://purl.obolibrary.org/obo/MESH_C567730"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_613135", "id_kw": "OMIM:613135", "leaf": true, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal."], "equivalent_curie_eng": ["UMLS:C2751067", "Orphanet:238455", "MESH:C567730"], "label": ["Infantile dystonia-parkinsonism"], "label_std": ["Infantile dystonia-parkinsonism"], "definition": ["Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal."], "synonym_std": ["PARKINSONISM-DYSTONIA, INFANTILE; PKDYS", "Dopamine Transporter Deficiency Syndrome", "PKDYS", "IPD"], "equivalent_curie": ["UMLS:C2751067", "Orphanet:238455", "MESH:C567730"]}, {"taxon_eng": "NCBITaxon:9615", "taxon_label_synonym": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "taxon_std": "NCBITaxon:9615", "equivalent_curie": ["ENSEMBL:ENSCAFG00000019674"], "taxon_label_eng": "Canis lupus familiaris", "synonym_kw": ["protein deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7"], "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSCAFG00000019674"], "iri": "http://www.ncbi.nlm.nih.gov/gene/479595", "_version_": 1564148163492708354, "label_eng": ["PARK7"], "taxon_kw": "NCBITaxon:9615", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/479595", "taxon_label_kw": "Canis lupus familiaris", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/479595", "category_kw": ["gene"], "taxon_label_synonym_std": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "synonym_eng": ["protein deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7"], "id_kw": "NCBIGene:479595", "id_eng": "NCBIGene:479595", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["ENSEMBL:ENSCAFG00000019674"], "label_kw": ["PARK7"], "synonym": ["protein deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7"], "score": 24.624176, "id_std": "NCBIGene:479595", "equivalent_curie_std": ["ENSEMBL:ENSCAFG00000019674"], "id": "NCBIGene:479595", "equivalent_iri": ["http://identifiers.org/ensembl/ENSCAFG00000019674"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/479595", "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSCAFG00000019674"], "taxon": "NCBITaxon:9615", "leaf": true, "taxon_label_synonym_kw": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "category_std": ["gene"], "equivalent_curie_eng": ["ENSEMBL:ENSCAFG00000019674"], "label": ["PARK7"], "taxon_label_std": "Canis lupus familiaris", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSCAFG00000019674"], "label_std": ["PARK7"], "synonym_std": ["protein deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7"], "taxon_label_synonym_eng": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "taxon_label": "Canis lupus familiaris"}, {"taxon_eng": "NCBITaxon:9823", "taxon_label_synonym": ["swine", "pigs", "wild boar", "Sus scrofus", "pig"], "taxon_std": "NCBITaxon:9823", "equivalent_curie": ["ENSEMBL:ENSSSCG00000003385"], "taxon_label_eng": "Sus scrofa", "synonym_kw": ["protein deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7", "DJ-1 protein"], "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSSSCG00000003385"], "iri": "http://www.ncbi.nlm.nih.gov/gene/780404", "_version_": 1564148234235936770, "label_eng": ["PARK7"], "taxon_kw": "NCBITaxon:9823", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/780404", "taxon_label_kw": "Sus scrofa", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/780404", "category_kw": ["gene"], "taxon_label_synonym_std": ["swine", "pigs", "wild boar", "Sus scrofus", "pig"], "synonym_eng": ["protein deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7", "DJ-1 protein"], "id_kw": "NCBIGene:780404", "id_eng": "NCBIGene:780404", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["ENSEMBL:ENSSSCG00000003385"], "label_kw": ["PARK7"], "synonym": ["protein deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7", "DJ-1 protein"], "score": 24.624176, "id_std": "NCBIGene:780404", "equivalent_curie_std": ["ENSEMBL:ENSSSCG00000003385"], "id": "NCBIGene:780404", "equivalent_iri": ["http://identifiers.org/ensembl/ENSSSCG00000003385"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/780404", "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSSSCG00000003385"], "taxon": "NCBITaxon:9823", "leaf": true, "taxon_label_synonym_kw": ["swine", "pigs", "wild boar", "Sus scrofus", "pig"], "category_std": ["gene"], "equivalent_curie_eng": ["ENSEMBL:ENSSSCG00000003385"], "label": ["PARK7"], "taxon_label_std": "Sus scrofa", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSSSCG00000003385"], "label_std": ["PARK7"], "synonym_std": ["protein deglycase DJ-1", "Parkinson disease (autosomal recessive, early onset) 7", "DJ-1 protein"], "taxon_label_synonym_eng": ["swine", "pigs", "wild boar", "Sus scrofus", "pig"], "taxon_label": "Sus scrofa"}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C0520716", "http://purl.obolibrary.org/obo/MESH_D057180", "http://purl.obolibrary.org/obo/UMLS_C2718305", "http://www.orpha.net/ORDO/Orphanet_282"], "synonym_eng": ["Familial Pick's Disease", "Disease, Familial Pick's", "pallidopontonigral degeneration", "Frontotemporal Dementia, Ubiquitin-Positive", "Dementias, Semantic", "Familial Picks Disease", "Multiple System Tauopathy with Presenile Dementia", "multiple system tauopathy with presenile dementia", "Frontotemporal Lobe Dementias (FLDEM)", "Wilhelmsen-Lynch Diseases", "Frontotemporal Lobe Dementia (FLDEM)", "Frontotemporal Dementias, GRN-Related", "Frontotemporal Dementia with Parkinsonism-17", "Complices, Disinhibition-Dementia-Parkinsonism-Amyotrophy", "Wilhelmsen-Lynch Disease", "Semantic Dementias", "Dementias, GRN-Related Frontotemporal", "Disinhibition-Dementia-Parkinsonism-Amytrophy Complex", "GRN-Related Frontotemporal Dementias", "Hereditary Dysphasic Disinhibition Dementia", "Frontotemporal Dementia with Parkinsonism 17", "Complices, Disinhibition-Dementia-Parkinsonism-Amytrophy", "Ubiquitin-Positive Frontotemporal Dementias", "Pick's Disease, Familial", "Frontotemporal Lobe Dementia", "Dementias, Frontotemporal Lobe (FLDEM)", "Disease, Wilhelmsen-Lynch", "Complex, Disinhibition-Dementia-Parkinsonism-Amytrophy", "Dementia, GRN-Related Frontotemporal", "FTD", "Familial Pick Disease", "Frontotemporal Dementias, Ubiquitin-Positive", "Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex", "Frontotemporal Dementia with Parkinsonism", "frontotemporal lobar degeneration", "GRN-Related Frontotemporal Dementia", "GRN Related Frontotemporal Dementia", "Dementia, Semantic", "Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions", "Disinhibition-Dementia-Parkinsonism-Amytrophy Complices", "Disinhibition-Dementia-Parkinsonism-Amyotrophy Complices", "Disinhibition Dementia Parkinsonism Amyotrophy Complex", "FTLD with TDP-43 Pathology", "Frontotemporal Dementias", "Dementias, Frontotemporal", "Wilhemsen-Lynch disease", "Frontotemporal Dementia, GRN-Related", "Dementias, Frontotemporal Lobe", "Dementia, Frontotemporal, with Parkinsonism", "FTLD with TDP 43 Pathology", "Semantic Dementia", "Dementia, Ubiquitin-Positive Frontotemporal", "Dementia, Frontotemporal", "Disinhibition Dementia Parkinsonism Amytrophy Complex", "Familial Pick's Diseases", "Diseases, Wilhelmsen-Lynch", "Ubiquitin-Positive Frontotemporal Dementia", "Frontotemporal Lobe Dementias", "Frontotemporal Dementia, Ubiquitin Positive", "Diseases, Familial Pick's", "Dementia, Frontotemporal Lobe", "Pick's Diseases, Familial", "Wilhelmsen Lynch Disease", "Dementia, Frontotemporal Lobe (FLDEM)", "Lobe Dementia, Frontotemporal", "Complex, Disinhibition-Dementia-Parkinsonism-Amyotrophy", "Dementia, Hereditary Dysphasic Disinhibition", "Dementias, Ubiquitin-Positive Frontotemporal", "Lobe Dementias, Frontotemporal", "Frontotemporal Lobar Degeneration With Ubiquitin Positive Inclusions"], "synonym_kw": ["Familial Pick's Disease", "Disease, Familial Pick's", "pallidopontonigral degeneration", "Frontotemporal Dementia, Ubiquitin-Positive", "Dementias, Semantic", "Familial Picks Disease", "Multiple System Tauopathy with Presenile Dementia", "multiple system tauopathy with presenile dementia", "Frontotemporal Lobe Dementias (FLDEM)", "Wilhelmsen-Lynch Diseases", "Frontotemporal Lobe Dementia (FLDEM)", "Frontotemporal Dementias, GRN-Related", "Frontotemporal Dementia with Parkinsonism-17", "Complices, Disinhibition-Dementia-Parkinsonism-Amyotrophy", "Wilhelmsen-Lynch Disease", "Semantic Dementias", "Dementias, GRN-Related Frontotemporal", "Disinhibition-Dementia-Parkinsonism-Amytrophy Complex", "GRN-Related Frontotemporal Dementias", "Hereditary Dysphasic Disinhibition Dementia", "Frontotemporal Dementia with Parkinsonism 17", "Complices, Disinhibition-Dementia-Parkinsonism-Amytrophy", "Ubiquitin-Positive Frontotemporal Dementias", "Pick's Disease, Familial", "Frontotemporal Lobe Dementia", "Dementias, Frontotemporal Lobe (FLDEM)", "Disease, Wilhelmsen-Lynch", "Complex, Disinhibition-Dementia-Parkinsonism-Amytrophy", "Dementia, GRN-Related Frontotemporal", "FTD", "Familial Pick Disease", "Frontotemporal Dementias, Ubiquitin-Positive", "Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex", "Frontotemporal Dementia with Parkinsonism", "frontotemporal lobar degeneration", "GRN-Related Frontotemporal Dementia", "GRN Related Frontotemporal Dementia", "Dementia, Semantic", "Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions", "Disinhibition-Dementia-Parkinsonism-Amytrophy Complices", "Disinhibition-Dementia-Parkinsonism-Amyotrophy Complices", "Disinhibition Dementia Parkinsonism Amyotrophy Complex", "FTLD with TDP-43 Pathology", "Frontotemporal Dementias", "Dementias, Frontotemporal", "Wilhemsen-Lynch disease", "Frontotemporal Dementia, GRN-Related", "Dementias, Frontotemporal Lobe", "Dementia, Frontotemporal, with Parkinsonism", "FTLD with TDP 43 Pathology", "Semantic Dementia", "Dementia, Ubiquitin-Positive Frontotemporal", "Dementia, Frontotemporal", "Disinhibition Dementia Parkinsonism Amytrophy Complex", "Familial Pick's Diseases", "Diseases, Wilhelmsen-Lynch", "Ubiquitin-Positive Frontotemporal Dementia", "Frontotemporal Lobe Dementias", "Frontotemporal Dementia, Ubiquitin Positive", "Diseases, Familial Pick's", "Dementia, Frontotemporal Lobe", "Pick's Diseases, Familial", "Wilhelmsen Lynch Disease", "Dementia, Frontotemporal Lobe (FLDEM)", "Lobe Dementia, Frontotemporal", "Complex, Disinhibition-Dementia-Parkinsonism-Amyotrophy", "Dementia, Hereditary Dysphasic Disinhibition", "Dementias, Ubiquitin-Positive Frontotemporal", "Lobe Dementias, Frontotemporal", "Frontotemporal Lobar Degeneration With Ubiquitin Positive Inclusions"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C0520716", "http://purl.obolibrary.org/obo/MESH_D057180", "http://purl.obolibrary.org/obo/UMLS_C2718305", "http://www.orpha.net/ORDO/Orphanet_282"], "iri": "http://purl.obolibrary.org/obo/DOID_9255", "_version_": 1564147979451891712, "label_eng": ["frontotemporal dementia"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C0520716", "http://purl.obolibrary.org/obo/MESH_D057180", "http://purl.obolibrary.org/obo/UMLS_C2718305", "http://www.orpha.net/ORDO/Orphanet_282"], "iri_kw": "http://purl.obolibrary.org/obo/DOID_9255", "iri_eng": "http://purl.obolibrary.org/obo/DOID_9255", "category_kw": ["disease"], "definition_std": ["Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)."], "id_eng": "DOID:9255", "definition_kw": ["Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)."], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C0520716", "MESH:D057180", "UMLS:C2718305", "Orphanet:282"], "label_kw": ["frontotemporal dementia"], "synonym": ["Familial Pick's Disease", "Disease, Familial Pick's", "pallidopontonigral degeneration", "Frontotemporal Dementia, Ubiquitin-Positive", "Dementias, Semantic", "Familial Picks Disease", "Multiple System Tauopathy with Presenile Dementia", "multiple system tauopathy with presenile dementia", "Frontotemporal Lobe Dementias (FLDEM)", "Wilhelmsen-Lynch Diseases", "Frontotemporal Lobe Dementia (FLDEM)", "Frontotemporal Dementias, GRN-Related", "Frontotemporal Dementia with Parkinsonism-17", "Complices, Disinhibition-Dementia-Parkinsonism-Amyotrophy", "Wilhelmsen-Lynch Disease", "Semantic Dementias", "Dementias, GRN-Related Frontotemporal", "Disinhibition-Dementia-Parkinsonism-Amytrophy Complex", "GRN-Related Frontotemporal Dementias", "Hereditary Dysphasic Disinhibition Dementia", "Frontotemporal Dementia with Parkinsonism 17", "Complices, Disinhibition-Dementia-Parkinsonism-Amytrophy", "Ubiquitin-Positive Frontotemporal Dementias", "Pick's Disease, Familial", "Frontotemporal Lobe Dementia", "Dementias, Frontotemporal Lobe (FLDEM)", "Disease, Wilhelmsen-Lynch", "Complex, Disinhibition-Dementia-Parkinsonism-Amytrophy", "Dementia, GRN-Related Frontotemporal", "FTD", "Familial Pick Disease", "Frontotemporal Dementias, Ubiquitin-Positive", "Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex", "Frontotemporal Dementia with Parkinsonism", "frontotemporal lobar degeneration", "GRN-Related Frontotemporal Dementia", "GRN Related Frontotemporal Dementia", "Dementia, Semantic", "Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions", "Disinhibition-Dementia-Parkinsonism-Amytrophy Complices", "Disinhibition-Dementia-Parkinsonism-Amyotrophy Complices", "Disinhibition Dementia Parkinsonism Amyotrophy Complex", "FTLD with TDP-43 Pathology", "Frontotemporal Dementias", "Dementias, Frontotemporal", "Wilhemsen-Lynch disease", "Frontotemporal Dementia, GRN-Related", "Dementias, Frontotemporal Lobe", "Dementia, Frontotemporal, with Parkinsonism", "FTLD with TDP 43 Pathology", "Semantic Dementia", "Dementia, Ubiquitin-Positive Frontotemporal", "Dementia, Frontotemporal", "Disinhibition Dementia Parkinsonism Amytrophy Complex", "Familial Pick's Diseases", "Diseases, Wilhelmsen-Lynch", "Ubiquitin-Positive Frontotemporal Dementia", "Frontotemporal Lobe Dementias", "Frontotemporal Dementia, Ubiquitin Positive", "Diseases, Familial Pick's", "Dementia, Frontotemporal Lobe", "Pick's Diseases, Familial", "Wilhelmsen Lynch Disease", "Dementia, Frontotemporal Lobe (FLDEM)", "Lobe Dementia, Frontotemporal", "Complex, Disinhibition-Dementia-Parkinsonism-Amyotrophy", "Dementia, Hereditary Dysphasic Disinhibition", "Dementias, Ubiquitin-Positive Frontotemporal", "Lobe Dementias, Frontotemporal", "Frontotemporal Lobar Degeneration With Ubiquitin Positive Inclusions"], "score": 24.618694, "id_std": "DOID:9255", "equivalent_curie_std": ["UMLS:C0520716", "MESH:D057180", "UMLS:C2718305", "Orphanet:282"], "id": "DOID:9255", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C0520716", "http://purl.obolibrary.org/obo/MESH_D057180", "http://purl.obolibrary.org/obo/UMLS_C2718305", "http://www.orpha.net/ORDO/Orphanet_282"], "iri_std": "http://purl.obolibrary.org/obo/DOID_9255", "id_kw": "DOID:9255", "leaf": false, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)."], "equivalent_curie_eng": ["UMLS:C0520716", "MESH:D057180", "UMLS:C2718305", "Orphanet:282"], "label": ["frontotemporal dementia"], "label_std": ["frontotemporal dementia"], "definition": ["Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)."], "synonym_std": ["Familial Pick's Disease", "Disease, Familial Pick's", "pallidopontonigral degeneration", "Frontotemporal Dementia, Ubiquitin-Positive", "Dementias, Semantic", "Familial Picks Disease", "Multiple System Tauopathy with Presenile Dementia", "multiple system tauopathy with presenile dementia", "Frontotemporal Lobe Dementias (FLDEM)", "Wilhelmsen-Lynch Diseases", "Frontotemporal Lobe Dementia (FLDEM)", "Frontotemporal Dementias, GRN-Related", "Frontotemporal Dementia with Parkinsonism-17", "Complices, Disinhibition-Dementia-Parkinsonism-Amyotrophy", "Wilhelmsen-Lynch Disease", "Semantic Dementias", "Dementias, GRN-Related Frontotemporal", "Disinhibition-Dementia-Parkinsonism-Amytrophy Complex", "GRN-Related Frontotemporal Dementias", "Hereditary Dysphasic Disinhibition Dementia", "Frontotemporal Dementia with Parkinsonism 17", "Complices, Disinhibition-Dementia-Parkinsonism-Amytrophy", "Ubiquitin-Positive Frontotemporal Dementias", "Pick's Disease, Familial", "Frontotemporal Lobe Dementia", "Dementias, Frontotemporal Lobe (FLDEM)", "Disease, Wilhelmsen-Lynch", "Complex, Disinhibition-Dementia-Parkinsonism-Amytrophy", "Dementia, GRN-Related Frontotemporal", "FTD", "Familial Pick Disease", "Frontotemporal Dementias, Ubiquitin-Positive", "Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex", "Frontotemporal Dementia with Parkinsonism", "frontotemporal lobar degeneration", "GRN-Related Frontotemporal Dementia", "GRN Related Frontotemporal Dementia", "Dementia, Semantic", "Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions", "Disinhibition-Dementia-Parkinsonism-Amytrophy Complices", "Disinhibition-Dementia-Parkinsonism-Amyotrophy Complices", "Disinhibition Dementia Parkinsonism Amyotrophy Complex", "FTLD with TDP-43 Pathology", "Frontotemporal Dementias", "Dementias, Frontotemporal", "Wilhemsen-Lynch disease", "Frontotemporal Dementia, GRN-Related", "Dementias, Frontotemporal Lobe", "Dementia, Frontotemporal, with Parkinsonism", "FTLD with TDP 43 Pathology", "Semantic Dementia", "Dementia, Ubiquitin-Positive Frontotemporal", "Dementia, Frontotemporal", "Disinhibition Dementia Parkinsonism Amytrophy Complex", "Familial Pick's Diseases", "Diseases, Wilhelmsen-Lynch", "Ubiquitin-Positive Frontotemporal Dementia", "Frontotemporal Lobe Dementias", "Frontotemporal Dementia, Ubiquitin Positive", "Diseases, Familial Pick's", "Dementia, Frontotemporal Lobe", "Pick's Diseases, Familial", "Wilhelmsen Lynch Disease", "Dementia, Frontotemporal Lobe (FLDEM)", "Lobe Dementia, Frontotemporal", "Complex, Disinhibition-Dementia-Parkinsonism-Amyotrophy", "Dementia, Hereditary Dysphasic Disinhibition", "Dementias, Ubiquitin-Positive Frontotemporal", "Lobe Dementias, Frontotemporal", "Frontotemporal Lobar Degeneration With Ubiquitin Positive Inclusions"], "equivalent_curie": ["UMLS:C0520716", "MESH:D057180", "UMLS:C2718305", "Orphanet:282"]}, {"equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_101150", "http://purl.obolibrary.org/obo/UMLS_C1854299", "http://purl.obolibrary.org/obo/UMLS_C2673535", "http://purl.obolibrary.org/obo/MESH_C537537"], "synonym_eng": ["Tyrosine hydroxylase-deficient dopa-responsive dystonia", "Autosomal Recessive Infantile Parkinsonism", "Dopa-Responsive Dystonia, Autosomal Recessive", "DOPA responsive dystonia, autosomal recessive", "DYT5b", "Parkinsonism, Infantile, Autosomal Recessive", "Th-Deficient Drd", "Autosomal recessive Segawa syndrome", "Dystonia, Dopa-Responsive, Autosomal Recessive", "Tyrosine Hydroxylase Deficiency", "Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive", "SEGAWA SYNDROME, AUTOSOMAL RECESSIVE", "Dystonia, DOPA responsive, autosomal recessive", "Parkinsonism, infantile, autosomal recessive", "Tyrosine hydroxylase deficiency"], "synonym_kw": ["Tyrosine hydroxylase-deficient dopa-responsive dystonia", "Autosomal Recessive Infantile Parkinsonism", "Dopa-Responsive Dystonia, Autosomal Recessive", "DOPA responsive dystonia, autosomal recessive", "DYT5b", "Parkinsonism, Infantile, Autosomal Recessive", "Th-Deficient Drd", "Autosomal recessive Segawa syndrome", "Dystonia, Dopa-Responsive, Autosomal Recessive", "Tyrosine Hydroxylase Deficiency", "Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive", "SEGAWA SYNDROME, AUTOSOMAL RECESSIVE", "Dystonia, DOPA responsive, autosomal recessive", "Parkinsonism, infantile, autosomal recessive", "Tyrosine hydroxylase deficiency"], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_101150", "http://purl.obolibrary.org/obo/UMLS_C1854299", "http://purl.obolibrary.org/obo/UMLS_C2673535", "http://purl.obolibrary.org/obo/MESH_C537537"], "iri": "http://purl.obolibrary.org/obo/OMIM_605407", "_version_": 1564148009986424832, "label_eng": ["Autosomal recessive dopa-responsive dystonia"], "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_101150", "http://purl.obolibrary.org/obo/UMLS_C1854299", "http://purl.obolibrary.org/obo/UMLS_C2673535", "http://purl.obolibrary.org/obo/MESH_C537537"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_605407", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_605407", "category_kw": ["disease"], "definition_std": ["Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy."], "id_eng": "OMIM:605407", "definition_kw": ["Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy."], "category_eng": ["disease"], "equivalent_curie_kw": ["Orphanet:101150", "UMLS:C1854299", "UMLS:C2673535", "MESH:C537537"], "label_kw": ["Autosomal recessive dopa-responsive dystonia"], "synonym": ["Tyrosine hydroxylase-deficient dopa-responsive dystonia", "Autosomal Recessive Infantile Parkinsonism", "Dopa-Responsive Dystonia, Autosomal Recessive", "DOPA responsive dystonia, autosomal recessive", "DYT5b", "Parkinsonism, Infantile, Autosomal Recessive", "Th-Deficient Drd", "Autosomal recessive Segawa syndrome", "Dystonia, Dopa-Responsive, Autosomal Recessive", "Tyrosine Hydroxylase Deficiency", "Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive", "SEGAWA SYNDROME, AUTOSOMAL RECESSIVE", "Dystonia, DOPA responsive, autosomal recessive", "Parkinsonism, infantile, autosomal recessive", "Tyrosine hydroxylase deficiency"], "score": 24.194925, "id_std": "OMIM:605407", "equivalent_curie_std": ["Orphanet:101150", "UMLS:C1854299", "UMLS:C2673535", "MESH:C537537"], "id": "OMIM:605407", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_101150", "http://purl.obolibrary.org/obo/UMLS_C1854299", "http://purl.obolibrary.org/obo/UMLS_C2673535", "http://purl.obolibrary.org/obo/MESH_C537537"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_605407", "id_kw": "OMIM:605407", "leaf": true, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy."], "equivalent_curie_eng": ["Orphanet:101150", "UMLS:C1854299", "UMLS:C2673535", "MESH:C537537"], "label": ["Autosomal recessive dopa-responsive dystonia"], "label_std": ["Autosomal recessive dopa-responsive dystonia"], "definition": ["Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy."], "synonym_std": ["Tyrosine hydroxylase-deficient dopa-responsive dystonia", "Autosomal Recessive Infantile Parkinsonism", "Dopa-Responsive Dystonia, Autosomal Recessive", "DOPA responsive dystonia, autosomal recessive", "DYT5b", "Parkinsonism, Infantile, Autosomal Recessive", "Th-Deficient Drd", "Autosomal recessive Segawa syndrome", "Dystonia, Dopa-Responsive, Autosomal Recessive", "Tyrosine Hydroxylase Deficiency", "Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive", "SEGAWA SYNDROME, AUTOSOMAL RECESSIVE", "Dystonia, DOPA responsive, autosomal recessive", "Parkinsonism, infantile, autosomal recessive", "Tyrosine hydroxylase deficiency"], "equivalent_curie": ["Orphanet:101150", "UMLS:C1854299", "UMLS:C2673535", "MESH:C537537"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C0338451"], "synonym_eng": ["Wilhelmsen-Lynch Disease", "Frontotemporal Lobar Degeneration With Tau Inclusions", "Ftdp17", "Pick Complex", "Frontotemporal Lobe Dementia", "Ftld With Tau Inclusions", "Frontotemporal Dementia With Parkinsonism", "FRONTOTEMPORAL DEMENTIA; FTD", "Pallidopontonigral Degeneration", "FTD", "Dementia, Frontotemporal, With Parkinsonism", "Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex", "Multiple System Tauopathy With Presenile Dementia"], "synonym_kw": ["Wilhelmsen-Lynch Disease", "Frontotemporal Lobar Degeneration With Tau Inclusions", "Ftdp17", "Pick Complex", "Frontotemporal Lobe Dementia", "Ftld With Tau Inclusions", "Frontotemporal Dementia With Parkinsonism", "FRONTOTEMPORAL DEMENTIA; FTD", "Pallidopontonigral Degeneration", "FTD", "Dementia, Frontotemporal, With Parkinsonism", "Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex", "Multiple System Tauopathy With Presenile Dementia"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C0338451"], "iri": "http://purl.obolibrary.org/obo/OMIM_600274", "_version_": 1564148005536268288, "label_eng": ["Frontotemporal Dementia"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C0338451"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_600274", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_600274", "category_kw": ["disease"], "definition_std": ["See http://www.omim.org/entry/600274"], "id_eng": "OMIM:600274", "definition_kw": ["See http://www.omim.org/entry/600274"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C0338451"], "label_kw": ["Frontotemporal Dementia"], "synonym": ["Wilhelmsen-Lynch Disease", "Frontotemporal Lobar Degeneration With Tau Inclusions", "Ftdp17", "Pick Complex", "Frontotemporal Lobe Dementia", "Ftld With Tau Inclusions", "Frontotemporal Dementia With Parkinsonism", "FRONTOTEMPORAL DEMENTIA; FTD", "Pallidopontonigral Degeneration", "FTD", "Dementia, Frontotemporal, With Parkinsonism", "Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex", "Multiple System Tauopathy With Presenile Dementia"], "score": 24.194925, "id_std": "OMIM:600274", "equivalent_curie_std": ["UMLS:C0338451"], "id": "OMIM:600274", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C0338451"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_600274", "id_kw": "OMIM:600274", "leaf": true, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["See http://www.omim.org/entry/600274"], "equivalent_curie_eng": ["UMLS:C0338451"], "label": ["Frontotemporal Dementia"], "label_std": ["Frontotemporal Dementia"], "definition": ["See http://www.omim.org/entry/600274"], "synonym_std": ["Wilhelmsen-Lynch Disease", "Frontotemporal Lobar Degeneration With Tau Inclusions", "Ftdp17", "Pick Complex", "Frontotemporal Lobe Dementia", "Ftld With Tau Inclusions", "Frontotemporal Dementia With Parkinsonism", "FRONTOTEMPORAL DEMENTIA; FTD", "Pallidopontonigral Degeneration", "FTD", "Dementia, Frontotemporal, With Parkinsonism", "Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex", "Multiple System Tauopathy With Presenile Dementia"], "equivalent_curie": ["UMLS:C0338451"]}, {"iri": "http://purl.obolibrary.org/obo/HP_0001716", "label_eng": ["Wolff-Parkinson-White syndrome"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0001716", "iri_eng": "http://purl.obolibrary.org/obo/HP_0001716", "category_kw": ["Phenotype"], "definition_kw": ["A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway."], "definition_std": ["A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway."], "id_eng": "HP:0001716", "leaf": true, "category_eng": ["Phenotype"], "label_kw": ["Wolff-Parkinson-White syndrome"], "score": 23.960114, "id_std": "HP:0001716", "id": "HP:0001716", "iri_std": "http://purl.obolibrary.org/obo/HP_0001716", "id_kw": "HP:0001716", "_version_": 1564148006375129088, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway."], "label": ["Wolff-Parkinson-White syndrome"], "label_std": ["Wolff-Parkinson-White syndrome"], "definition": ["A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway."]}, {"category_eng": ["disease"], "_version_": 1564148011964039169, "label_kw": ["Rare parkinsonian disorder"], "score": 23.960114, "id_std": "Orphanet:68402", "id": "Orphanet:68402", "iri": "http://www.orpha.net/ORDO/Orphanet_68402", "iri_std": "http://www.orpha.net/ORDO/Orphanet_68402", "label_eng": ["Rare parkinsonian disorder"], "id_kw": "Orphanet:68402", "leaf": false, "iri_kw": "http://www.orpha.net/ORDO/Orphanet_68402", "category": ["disease"], "iri_eng": "http://www.orpha.net/ORDO/Orphanet_68402", "category_kw": ["disease"], "label": ["Rare parkinsonian disorder"], "label_std": ["Rare parkinsonian disorder"], "id_eng": "Orphanet:68402", "category_std": ["disease"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_CN180193", "http://purl.obolibrary.org/obo/UMLS_CN203776"], "synonym_eng": ["CLN12 disease"], "synonym_kw": ["CLN12 disease"], "iri": "http://www.orpha.net/ORDO/Orphanet_314632", "_version_": 1564147990671654912, "label_eng": ["Parkinsonism due to ATP13A2 deficiency"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_CN180193", "http://purl.obolibrary.org/obo/UMLS_CN203776"], "iri_kw": "http://www.orpha.net/ORDO/Orphanet_314632", "iri_eng": "http://www.orpha.net/ORDO/Orphanet_314632", "category_kw": ["disease"], "id_eng": "Orphanet:314632", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_CN180193", "http://purl.obolibrary.org/obo/UMLS_CN203776"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:CN180193", "UMLS:CN203776"], "label_kw": ["Parkinsonism due to ATP13A2 deficiency"], "synonym": ["CLN12 disease"], "score": 23.960114, "id_std": "Orphanet:314632", "equivalent_curie_std": ["UMLS:CN180193", "UMLS:CN203776"], "id": "Orphanet:314632", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_CN180193", "http://purl.obolibrary.org/obo/UMLS_CN203776"], "iri_std": "http://www.orpha.net/ORDO/Orphanet_314632", "id_kw": "Orphanet:314632", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["UMLS:CN180193", "UMLS:CN203776"], "label": ["Parkinsonism due to ATP13A2 deficiency"], "label_std": ["Parkinsonism due to ATP13A2 deficiency"], "synonym_std": ["CLN12 disease"], "equivalent_curie": ["UMLS:CN180193", "UMLS:CN203776"]}, {"category_eng": ["disease"], "_version_": 1564147993132662787, "label_kw": ["juvenile-onset Parkinson disease"], "score": 23.960114, "id_std": "DOID:0060893", "id": "DOID:0060893", "iri": "http://purl.obolibrary.org/obo/DOID_0060893", "iri_std": "http://purl.obolibrary.org/obo/DOID_0060893", "label_eng": ["juvenile-onset Parkinson disease"], "id_kw": "DOID:0060893", "leaf": false, "iri_kw": "http://purl.obolibrary.org/obo/DOID_0060893", "category": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/DOID_0060893", "category_kw": ["disease"], "label": ["juvenile-onset Parkinson disease"], "label_std": ["juvenile-onset Parkinson disease"], "id_eng": "DOID:0060893", "category_std": ["disease"]}, {"category_eng": ["disease"], "_version_": 1564147993134759936, "label_kw": ["late onset Parkinson disease"], "score": 23.960114, "id_std": "DOID:0060892", "id": "DOID:0060892", "iri": "http://purl.obolibrary.org/obo/DOID_0060892", "iri_std": "http://purl.obolibrary.org/obo/DOID_0060892", "label_eng": ["late onset Parkinson disease"], "id_kw": "DOID:0060892", "leaf": false, "iri_kw": "http://purl.obolibrary.org/obo/DOID_0060892", "category": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/DOID_0060892", "category_kw": ["disease"], "label": ["late onset Parkinson disease"], "label_std": ["late onset Parkinson disease"], "id_eng": "DOID:0060892", "category_std": ["disease"]}], "highlighting": {"OMIM:118301": {"synonym_eng": ["CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND <em class=\"hilite\">PARKINSONISM</em>"], "label_eng": ["Charcot-Marie-Tooth Disease With Ptosis and <em class=\"hilite\">Parkinsonism</em>"]}, "DOID:14330": {"synonym_eng": ["Primary <em class=\"hilite\">Parkinsonism</em>", "Idiopathic <em class=\"hilite\">Parkinson's</em> Disease", "<em class=\"hilite\">Parkinson</em> disease", "<em class=\"hilite\">Parkinson's</em> Disease", "Lewy Body <em class=\"hilite\">Parkinson</em> Disease", "<em class=\"hilite\">Parkinson</em> Disease, Idiopathic", "<em class=\"hilite\">Parkinson's</em> Disease, Idiopathic", "<em class=\"hilite\">Parkinsonism</em>, Primary", "<em class=\"hilite\">Parkinson's</em> Disease, Lewy Body", "Idiopathic <em class=\"hilite\">Parkinson</em> Disease", "Lewy Body <em class=\"hilite\">Parkinson's</em> Disease"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease", "Lewy Body <em class=\"hilite\">Parkinson</em> Disease", "<em class=\"hilite\">Parkinson</em> Disease, Idiopathic", "Idiopathic <em class=\"hilite\">Parkinson</em> Disease"], "label_eng": ["<em class=\"hilite\">Parkinson's</em> disease"]}, "OMIM:600274": {"synonym_eng": ["Frontotemporal Dementia With <em class=\"hilite\">Parkinsonism</em>", "Dementia, Frontotemporal, With <em class=\"hilite\">Parkinsonism</em>", "Disinhibition-Dementia-<em class=\"hilite\">Parkinsonism</em>-Amyotrophy Complex"]}, "OMIM:606693": {"synonym_eng": ["autosomal recessive <em class=\"hilite\">Parkinson</em> disease 9", "<em class=\"hilite\">Parkinson</em> disease 9", "autosomal recessive juvenile onset <em class=\"hilite\">Parkinson</em> disease 9", "<em class=\"hilite\">Parkinson</em> Disease 9, Autosomal Recessive"], "synonym_std": ["autosomal recessive <em class=\"hilite\">Parkinson</em> disease 9", "<em class=\"hilite\">Parkinson</em> disease 9", "autosomal recessive juvenile onset <em class=\"hilite\">Parkinson</em> disease 9", "<em class=\"hilite\">Parkinson</em> Disease 9, Autosomal Recessive"]}, "NCBIGene:117287": {"synonym_eng": ["<em class=\"hilite\">Parkinsonism</em> associated deglycase", "<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> protein 7", "<em class=\"hilite\">parkinson</em> disease protein 7 homolog"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> protein 7", "<em class=\"hilite\">parkinson</em> disease protein 7 homolog"]}, "MESH:D020267": {"definition_std": [" bradykinesia (<em class=\"hilite\">PARKINSON</em> DISEASE, SECONDARY). MPTP toxicity is also used as an animal model for the study of", " <em class=\"hilite\">PARKINSON</em> DISEASE. (Adams et al., Principles of Neurology, 6th ed, p1072; Neurology 1986 Feb;36(2):250-8)"], "synonym_eng": ["<em class=\"hilite\">Parkinsonism</em>, MPTP-Induced", "MPTP-Induced <em class=\"hilite\">Parkinsonism</em>", "MPTP Induced <em class=\"hilite\">Parkinsonism</em>"], "definition_eng": [" dopaminergic neurons. Clinical features include irreversible <em class=\"hilite\">parkinsonian</em> signs including rigidity and", " bradykinesia (<em class=\"hilite\">PARKINSON</em> DISEASE, SECONDARY). MPTP toxicity is also used as an animal model for the study", " of <em class=\"hilite\">PARKINSON</em> DISEASE. (Adams et al., Principles of Neurology, 6th ed, p1072; Neurology 1986 Feb;36(2):250-8)"]}, "OMIM:605407": {"synonym_eng": ["Autosomal Recessive Infantile <em class=\"hilite\">Parkinsonism</em>", "<em class=\"hilite\">Parkinsonism</em>, Infantile, Autosomal Recessive", "<em class=\"hilite\">Parkinsonism</em>, infantile, autosomal recessive"]}, "DOID:14332": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease, Post Encephalitic", "Postencephalitic Economo-Type <em class=\"hilite\">Parkinsonism</em>", "<em class=\"hilite\">Parkinson</em> Disease, Post-Encephalitic", "<em class=\"hilite\">Parkinsonisms</em>, Viral Meningoencephalitic", "<em class=\"hilite\">Parkinsonism</em>, Postencephalitic Economo-Type", "Economo-Type <em class=\"hilite\">Parkinsonism</em>, Postencephalitic", "Postencephalitic <em class=\"hilite\">Parkinson</em> Disease", "von Economo Encephalitis Type <em class=\"hilite\">Parkinsonism</em>", "<em class=\"hilite\">Parkinsonism</em>, Viral Meningoencephalitic", "Postencephalitic <em class=\"hilite\">Parkinsonism</em>", "Post-Encephalitic <em class=\"hilite\">Parkinson</em> Disease", "Post Encephalitic <em class=\"hilite\">Parkinson</em> Disease", "Meningoencephalitic <em class=\"hilite\">Parkinsonism</em>, Viral", "Postencephalitic Economo Type <em class=\"hilite\">Parkinsonism</em>", "Postencephalitic <em class=\"hilite\">parkinsonism</em>", "Postencephalitic <em class=\"hilite\">parkinsonism</em> (disorder)", "Postencephalitis <em class=\"hilite\">Parkinsonian</em> Syndrome", "<em class=\"hilite\">Parkinsonism</em>, Postencephalitic", "<em class=\"hilite\">Parkinsonian</em> Syndrome, Postencephalitis", "Viral Meningoencephalitic <em class=\"hilite\">Parkinsonism</em>", "Encephalitis Lethargica Type <em class=\"hilite\">Parkinsonism</em>"], "definition_eng": ["<em class=\"hilite\">Parkinsonism</em> following encephalitis, historically seen as a sequella of encephalitis lethargica", " primary <em class=\"hilite\">PARKINSON</em> DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the"], "definition_std": [" primary <em class=\"hilite\">PARKINSON</em> DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the"], "label_std": ["postencephalitic <em class=\"hilite\">Parkinson</em> disease"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease, Post Encephalitic", "<em class=\"hilite\">Parkinson</em> Disease, Post-Encephalitic", "Postencephalitic <em class=\"hilite\">Parkinson</em> Disease", "Post-Encephalitic <em class=\"hilite\">Parkinson</em> Disease", "Post Encephalitic <em class=\"hilite\">Parkinson</em> Disease"], "label_eng": ["postencephalitic <em class=\"hilite\">Parkinson</em> disease"]}, "NCBIGene:309110": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"]}, "OMIM:168100": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease, Juvenile, of Hunt", "<em class=\"hilite\">Parkinson</em> Disease, Juvenile, Of Hunt"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease, Juvenile, of Hunt", "<em class=\"hilite\">Parkinson</em> Disease, Juvenile, Of Hunt"]}, "NCBIGene:100010357": {"synonym_eng": ["<em class=\"hilite\">parkinson</em> protein 7"], "synonym_std": ["<em class=\"hilite\">parkinson</em> protein 7"]}, "NCBIGene:740015": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"]}, "NCBIGene:100147623": {"synonym_eng": ["LOW QUALITY PROTEIN: <em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"], "synonym_std": ["LOW QUALITY PROTEIN: <em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"]}, "OMIM:607688": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 11, Autosomal Dominant, Susceptibility to"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 11, Autosomal Dominant, Susceptibility to"]}, "NCBIGene:56816": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase"]}, "NCBIGene:780404": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7"]}, "OMIM:610297": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 13, Autosomal Dominant, Susceptibility to"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 13, Autosomal Dominant, Susceptibility to"]}, "OMIM:602404": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease 3, Autosomal Dominant", "<em class=\"hilite\">PARKINSON</em> DISEASE 3, AUTOSOMAL DOMINANT; PARK3", "<em class=\"hilite\">Parkinson</em> Disease 3, Autosomal Dominant Lewy Body"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease 3, Autosomal Dominant", "<em class=\"hilite\">PARKINSON</em> DISEASE 3, AUTOSOMAL DOMINANT; PARK3", "<em class=\"hilite\">Parkinson</em> Disease 3, Autosomal Dominant Lewy Body"]}, "NCBIGene:421577": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"]}, "OMIM:600116": {"label_eng": ["autosomal recessive juvenile <em class=\"hilite\">Parkinson</em> disease 2"], "label_std": ["autosomal recessive juvenile <em class=\"hilite\">Parkinson</em> disease 2"], "synonym_eng": ["<em class=\"hilite\">Parkinsonism</em>, Early-Onset, With Diurnal Fluctuation", "<em class=\"hilite\">PARKINSON</em> DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2", "autosomal recessive juvenile <em class=\"hilite\">Parkinson</em> disease type 2", "<em class=\"hilite\">Parkinson</em> Disease, Juvenile, Autosomal Recessive"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2", "autosomal recessive juvenile <em class=\"hilite\">Parkinson</em> disease type 2", "<em class=\"hilite\">Parkinson</em> Disease, Juvenile, Autosomal Recessive"], "definition_eng": ["A <em class=\"hilite\">Parkinson's</em> disease that has_material_basis_in mutation in the parkin gene (PARK2) on chromosome"]}, "OMIM:606324": {"label_eng": ["autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease 7"], "label_std": ["autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease 7"], "synonym_eng": ["autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease type 7", "<em class=\"hilite\">PARKINSON</em> DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7"], "synonym_std": ["autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease type 7", "<em class=\"hilite\">PARKINSON</em> DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7"], "definition_eng": ["A <em class=\"hilite\">Parkinson's</em> disease that has_material_basis_in homozygous or compound heterozygous mutation"]}, "NCBIGene:100148360": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"]}, "OMIM:605543": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease 4, Autosomal Dominant Lewy Body", "autosomal dominant <em class=\"hilite\">Parkinson</em> disease type 4", "autosomal dominant Lewy body <em class=\"hilite\">Parkinson</em> disease 4", "<em class=\"hilite\">PARKINSON</em> DISEASE 4, AUTOSOMAL DOMINANT; PARK4"], "definition_eng": ["A late onset <em class=\"hilite\">Parkinson</em> disease that has_material_basis_in heterozygous triplication of the alpha"], "definition_std": ["A late onset <em class=\"hilite\">Parkinson</em> disease that has_material_basis_in heterozygous triplication of the alpha"], "label_std": ["autosomal dominant <em class=\"hilite\">Parkinson</em> disease 4"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease 4, Autosomal Dominant Lewy Body", "autosomal dominant <em class=\"hilite\">Parkinson</em> disease type 4", "autosomal dominant Lewy body <em class=\"hilite\">Parkinson</em> disease 4", "<em class=\"hilite\">PARKINSON</em> DISEASE 4, AUTOSOMAL DOMINANT; PARK4"], "label_eng": ["autosomal dominant <em class=\"hilite\">Parkinson</em> disease 4"]}, "Orphanet:306686": {"synonym_eng": ["CO-induced <em class=\"hilite\">parkinsonism</em>"], "label_eng": ["Carbon monoxide-induced <em class=\"hilite\">parkinsonism</em>"]}, "OMIM:128235": {"synonym_eng": ["Rapid-onset dystonia-<em class=\"hilite\">parkinsonism</em>", "Dystonia-<em class=\"hilite\">Parkinsonism</em>, Rapid-Onset", "Rapid-Onset Dystonia <em class=\"hilite\">Parkinsonism</em>"], "definition_eng": ["Rapid-onset dystonia-<em class=\"hilite\">parkinsonism</em> (RDP) is a very rare movement disorder, characterized by the", " abrupt onset of <em class=\"hilite\">parkinsonism</em> and dystonia, often triggered by physical or psychological stress."]}, "NCBIGene:213350": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"]}, "NCBIGene:479595": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7"]}, "NCBIGene:612316": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"]}, "OMIM:168600": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease, Late-Onset"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE, LATE-ONSET; PD"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE, LATE-ONSET; PD"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease, Late-Onset"]}, "OMIM:125320": {"synonym_eng": ["DEMENTIA/<em class=\"hilite\">PARKINSONISM</em> WITH NON-ALZHEIMER AMYLOID PLAQUES"], "label_eng": ["Dementia/<em class=\"hilite\">Parkinsonism</em> With Non-Alzheimer Amyloid Plaques"]}, "OMIM:605909": {"label_eng": ["autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease 6"], "label_std": ["autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease 6"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6", "autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease type 6", "<em class=\"hilite\">Parkinson</em> Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1", "early-onset <em class=\"hilite\">Parkinson</em> disease 6", "<em class=\"hilite\">Parkinson</em> Disease, Autosomal Recessive Early-Onset, Digenic, Pink1-Dj1", "<em class=\"hilite\">Parkinson</em> Disease 6, Late-Onset, Susceptibility to", "<em class=\"hilite\">Parkinson</em> Disease 6, Early-Onset"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6", "autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease type 6", "<em class=\"hilite\">Parkinson</em> Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1", "early-onset <em class=\"hilite\">Parkinson</em> disease 6", "<em class=\"hilite\">Parkinson</em> Disease, Autosomal Recessive Early-Onset, Digenic, Pink1-Dj1", "<em class=\"hilite\">Parkinson</em> Disease 6, Late-Onset, Susceptibility to", "<em class=\"hilite\">Parkinson</em> Disease 6, Early-Onset"], "definition_eng": ["A <em class=\"hilite\">Parkinson's</em> disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12."]}, "NCBIGene:100057832": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"]}, "OMIM:260300": {"label_eng": ["autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease 15"], "label_std": ["autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease 15"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15", "<em class=\"hilite\">Parkinsonian</em>-Pyramidal Syndrome", "<em class=\"hilite\">Parkinsonian</em>-pyramidal syndrome", "<em class=\"hilite\">Parkinson</em> Disease 15, Autosomal Recessive", "autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease type 15"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15", "<em class=\"hilite\">Parkinson</em> Disease 15, Autosomal Recessive", "autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease type 15"], "definition_eng": ["A <em class=\"hilite\">Parkinson's</em> disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3."]}, "NCBIGene:100552437": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"]}, "MESH:D020734": {"label_eng": ["<em class=\"hilite\">Parkinsonian</em> Disorders"], "definition_std": [" parkinsonism (see <em class=\"hilite\">PARKINSON</em> DISEASE), secondary parkinsonism (see <em class=\"hilite\">PARKINSON</em> DISEASE, SECONDARY) and inherited"], "synonym_eng": ["Juvenile <em class=\"hilite\">Parkinson</em> Disease, Autosomal Recessive", "Autosomal Recesssive Juvenile <em class=\"hilite\">Parkinsonism</em>", "Juvenile <em class=\"hilite\">Parkinson</em> Disease", "<em class=\"hilite\">Parkinson</em> Disease, Familial, Autosomal Recessive", "<em class=\"hilite\">Parkinsonism</em>, Autosomal Recessive", "<em class=\"hilite\">Parkinsonism</em>, Early Onset, with Diurnal Fluctuation", "<em class=\"hilite\">Parkinson</em> Disease, Juvenile", "<em class=\"hilite\">Parkinsonism</em>, Juvenile, Autosomal Recessive", "Experimental <em class=\"hilite\">Parkinsonism</em>, MPTP Induced", "<em class=\"hilite\">Parkinson</em> Disease 2", "Experimental <em class=\"hilite\">Parkinson</em> Diseases", "Chromosome 6 Linked Autosomal Recessive <em class=\"hilite\">Parkinsonism</em>", "<em class=\"hilite\">Parkinsonian</em> Diseases", "Juvenile <em class=\"hilite\">Parkinson</em> Disease, Autosomal Dominant", "Autosomal Dominant <em class=\"hilite\">Parkinsonism</em>", "<em class=\"hilite\">Parkinson</em> Disease, Experimental", "Diseases, Experimental <em class=\"hilite\">Parkinson</em>", "Juvenile <em class=\"hilite\">Parkinsonism</em>, Familial", "<em class=\"hilite\">Parkinsonism</em>, Juvenile, Autosomal Dominant", "<em class=\"hilite\">Parkinson</em> Disease, Autosomal Dominant. Juvenile", "<em class=\"hilite\">Parkinsonian</em> Syndromes", "<em class=\"hilite\">Parkinson</em> Diseases, Experimental", "Autosomal Recessive <em class=\"hilite\">Parkinsonism</em>", "Juvenile <em class=\"hilite\">Parkinsonism</em>, Autosomal Recessive", "<em class=\"hilite\">Parkinson</em> Disease, Juvenile, Autosomal Dominant", "<em class=\"hilite\">Parkinsonism</em>, Early-Onset, With Diurnal Fluctuation", "<em class=\"hilite\">Parkinson</em> Disease 2, Autosomal Recessive Juvenile", "<em class=\"hilite\">Parkinsonisms</em>, Experimental", "<em class=\"hilite\">Parkinson</em> Disease Autosomal Recessive, Early Onset", "<em class=\"hilite\">Parkinsonism</em>, Juvenile", "Autosomal Dominant Juvenile <em class=\"hilite\">Parkinsonism</em>", "Familial Juvenile <em class=\"hilite\">Parkinsonism</em>", "Juvenile <em class=\"hilite\">Parkinsonisms</em>", "Dominant <em class=\"hilite\">Parkinsonism</em>, Autosomal", "<em class=\"hilite\">Parkinson</em> Disease, Juvenile, Autosomal Recessive", "<em class=\"hilite\">Parkinsonism</em>, MPTP-Induced Experimental", "Chromosome 6-Linked Autosomal Recessive <em class=\"hilite\">Parkinsonism</em>", "Juvenile <em class=\"hilite\">Parkinsonism</em>, Autosomal Dominant", "<em class=\"hilite\">Parkinsonism</em>, Familial Juvenile", "MPTP Induced Experimental <em class=\"hilite\">Parkinsonism</em>", "<em class=\"hilite\">Parkinsonism</em>, Autosomal Dominant", "Familial <em class=\"hilite\">Parkinson</em> Disease, Autosomal Recessive", "<em class=\"hilite\">Parkinsonism</em>, Experimental", "Experimental <em class=\"hilite\">Parkinsonism</em>, MPTP-Induced", "Experimental <em class=\"hilite\">Parkinson</em> Disease", "<em class=\"hilite\">Parkinsonian</em> Syndrome", "Recessive <em class=\"hilite\">Parkinsonism</em>, Autosomal", "Juvenile <em class=\"hilite\">Parkinsonism</em>", "Experimental <em class=\"hilite\">Parkinsonism</em>", "Autosomal Dominant Juvenile <em class=\"hilite\">Parkinson</em> Disease", "<em class=\"hilite\">Parkinsonism</em>", "<em class=\"hilite\">Parkinsonisms</em>, Juvenile", "Experimental <em class=\"hilite\">Parkinsonisms</em>", "MPTP-Induced Experimental <em class=\"hilite\">Parkinsonism</em>", "Autosomal Recessive Juvenile <em class=\"hilite\">Parkinson</em> Disease"], "synonym_std": ["Juvenile <em class=\"hilite\">Parkinson</em> Disease, Autosomal Recessive", "Juvenile <em class=\"hilite\">Parkinson</em> Disease", "<em class=\"hilite\">Parkinson</em> Disease, Familial, Autosomal Recessive", "<em class=\"hilite\">Parkinson</em> Disease, Juvenile", "<em class=\"hilite\">Parkinson</em> Disease 2", "Experimental <em class=\"hilite\">Parkinson</em> Diseases", "Juvenile <em class=\"hilite\">Parkinson</em> Disease, Autosomal Dominant", "<em class=\"hilite\">Parkinson</em> Disease, Experimental", "Diseases, Experimental <em class=\"hilite\">Parkinson</em>", "<em class=\"hilite\">Parkinson</em> Disease, Autosomal Dominant. Juvenile", "<em class=\"hilite\">Parkinson</em> Diseases, Experimental", "<em class=\"hilite\">Parkinson</em> Disease, Juvenile, Autosomal Dominant", "<em class=\"hilite\">Parkinson</em> Disease 2, Autosomal Recessive Juvenile", "<em class=\"hilite\">Parkinson</em> Disease Autosomal Recessive, Early Onset", "<em class=\"hilite\">Parkinson</em> Disease, Juvenile, Autosomal Recessive", "Familial <em class=\"hilite\">Parkinson</em> Disease, Autosomal Recessive", "Experimental <em class=\"hilite\">Parkinson</em> Disease", "Autosomal Dominant Juvenile <em class=\"hilite\">Parkinson</em> Disease", "Autosomal Recessive Juvenile <em class=\"hilite\">Parkinson</em> Disease"], "definition_eng": [" RIGIDITY; TREMOR; and postural instability. <em class=\"hilite\">Parkinsonian</em> diseases are generally divided into primary", " <em class=\"hilite\">parkinsonism</em> (see <em class=\"hilite\">PARKINSON</em> DISEASE), secondary <em class=\"hilite\">parkinsonism</em> (see <em class=\"hilite\">PARKINSON</em> DISEASE, SECONDARY) and inherited"]}, "NCBIGene:100073498": {"synonym_eng": ["<em class=\"hilite\">parkinson</em> protein 7"], "synonym_std": ["<em class=\"hilite\">parkinson</em> protein 7"]}, "NCBIGene:511268": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> disease protein 7 homolog"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> disease protein 7 homolog"]}, "NCBIGene:100030192": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"]}, "MESH:C566823": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease, Familial, Type 1"], "synonym_eng": ["Lewy Body <em class=\"hilite\">Parkinsonism</em>", "<em class=\"hilite\">Parkinson</em> Disease, Autosomal Dominant", "Atypical <em class=\"hilite\">Parkinson</em> Disease"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease, Autosomal Dominant", "Atypical <em class=\"hilite\">Parkinson</em> Disease"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease, Familial, Type 1"]}, "OMIM:314250": {"synonym_eng": ["X-Linked Dystonia-<em class=\"hilite\">Parkinsonism</em> Syndrome", "Torsion Dystonia-<em class=\"hilite\">Parkinsonism</em>, Filipino Type", "X-Linked Torsion Dystonia-<em class=\"hilite\">Parkinsonism</em> Syndrome", "Dystonia-<em class=\"hilite\">Parkinsonism</em>, X-Linked", "X-Linked Dystonia-<em class=\"hilite\">Parkinsonism</em>"], "label_eng": ["X-linked dystonia-<em class=\"hilite\">parkinsonism</em>"], "definition_eng": ["X-linked dystonia-<em class=\"hilite\">parkinsonism</em> (XDP) is a neurodegenerative movement disorder characterized", " by adult-onset <em class=\"hilite\">parkinsonism</em> that is frequently accompanied by focal dystonia, which becomes generalized"]}, "OMIM:616361": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 21"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE 21; PARK21", "<em class=\"hilite\">Parkinson</em> Disease type 21"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE 21; PARK21", "<em class=\"hilite\">Parkinson</em> Disease type 21"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 21"]}, "NCBIGene:746063": {"synonym_eng": ["<em class=\"hilite\">Parkinsonism</em> associated deglycase", "<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> protein 7"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> protein 7"]}, "DOID:13548": {"synonym_eng": ["Symptomatic <em class=\"hilite\">Parkinsonism</em>", "<em class=\"hilite\">Parkinsonism</em>, Atherosclerotic", "secondary <em class=\"hilite\">parkinsonism</em>, unspecified", "secondary <em class=\"hilite\">Parkinsonism</em>", "<em class=\"hilite\">Parkinson</em> Disease, Symptomatic", "<em class=\"hilite\">Parkinson</em> Disease, Secondary Vascular", "Secondary Vascular <em class=\"hilite\">Parkinson</em> Disease", "disorder presenting primarily with <em class=\"hilite\">parkinsonism</em>", "secondary <em class=\"hilite\">parkinsonism</em> (disorder)", "Symptomatic <em class=\"hilite\">Parkinson</em> Disease", "<em class=\"hilite\">Parkinsonism</em>, Symptomatic", "Symptomatic <em class=\"hilite\">parkinsonism</em> (disorder)", "Secondary <em class=\"hilite\">Parkinsonism</em>", "Atherosclerotic <em class=\"hilite\">Parkinsonism</em>", "secondary <em class=\"hilite\">parkinsonism</em> (disorder) [Ambiguous]", "Secondary <em class=\"hilite\">Parkinson</em> Disease", "secondary <em class=\"hilite\">parkinsonism</em>, unspecified (disorder)", "<em class=\"hilite\">Parkinsonism</em>, Secondary"], "definition_eng": ["Conditions which feature clinical manifestations resembling primary <em class=\"hilite\">Parkinson</em> disease that are", " caused by a known or suspected condition. Examples include <em class=\"hilite\">parkinsonism</em> caused by vascular injury, drugs", " features may include bradykinesia, rigidity, <em class=\"hilite\">parkinsonian</em> gait, and masked facies. In general, tremor", " is less prominent in secondary <em class=\"hilite\">parkinsonism</em> than in the primary form. (From Joynt, Clinical Neurology"], "definition_std": ["Conditions which feature clinical manifestations resembling primary <em class=\"hilite\">Parkinson</em> disease that are"], "label_std": ["secondary <em class=\"hilite\">Parkinson</em> disease"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease, Symptomatic", "<em class=\"hilite\">Parkinson</em> Disease, Secondary Vascular", "Secondary Vascular <em class=\"hilite\">Parkinson</em> Disease", "Symptomatic <em class=\"hilite\">Parkinson</em> Disease", "Secondary <em class=\"hilite\">Parkinson</em> Disease"], "label_eng": ["secondary <em class=\"hilite\">Parkinson</em> disease"]}, "HP:0001716": {"label_std": ["Wolff-<em class=\"hilite\">Parkinson</em>-White syndrome"], "label_eng": ["Wolff-<em class=\"hilite\">Parkinson</em>-White syndrome"]}, "DOID:9255": {"synonym_eng": ["Frontotemporal Dementia with <em class=\"hilite\">Parkinsonism</em>-17", "Complices, Disinhibition-Dementia-<em class=\"hilite\">Parkinsonism</em>-Amyotrophy", "Disinhibition-Dementia-<em class=\"hilite\">Parkinsonism</em>-Amytrophy Complex", "Frontotemporal Dementia with <em class=\"hilite\">Parkinsonism</em> 17", "Complices, Disinhibition-Dementia-<em class=\"hilite\">Parkinsonism</em>-Amytrophy", "Complex, Disinhibition-Dementia-<em class=\"hilite\">Parkinsonism</em>-Amytrophy", "Disinhibition-Dementia-<em class=\"hilite\">Parkinsonism</em>-Amyotrophy Complex", "Frontotemporal Dementia with <em class=\"hilite\">Parkinsonism</em>", "Disinhibition-Dementia-<em class=\"hilite\">Parkinsonism</em>-Amytrophy Complices", "Disinhibition-Dementia-<em class=\"hilite\">Parkinsonism</em>-Amyotrophy Complices", "Disinhibition Dementia <em class=\"hilite\">Parkinsonism</em> Amyotrophy Complex", "Dementia, Frontotemporal, with <em class=\"hilite\">Parkinsonism</em>", "Disinhibition Dementia <em class=\"hilite\">Parkinsonism</em> Amytrophy Complex", "Complex, Disinhibition-Dementia-<em class=\"hilite\">Parkinsonism</em>-Amyotrophy"]}, "NCBIGene:733673": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"]}, "OMIM:612953": {"label_eng": ["autosomal recessive <em class=\"hilite\">Parkinson</em> disease 14"], "label_std": ["autosomal recessive <em class=\"hilite\">Parkinson</em> disease 14"], "synonym_eng": ["autosomal recessive <em class=\"hilite\">Parkinson</em> disease type 14", "PLA2G6-related dystonia-<em class=\"hilite\">parkinsonism</em>", "<em class=\"hilite\">PARKINSON</em> DISEASE 14, AUTOSOMAL RECESSIVE; PARK14", "Dystonia-<em class=\"hilite\">parkinsonism</em>, Paisan-Ruiz type", "Dystonia-<em class=\"hilite\">Parkinsonism</em>, Adult-Onset"], "synonym_std": ["autosomal recessive <em class=\"hilite\">Parkinson</em> disease type 14", "<em class=\"hilite\">PARKINSON</em> DISEASE 14, AUTOSOMAL RECESSIVE; PARK14"], "definition_eng": ["Adult-onset dystonia-<em class=\"hilite\">parkinsonism</em> is a rare neurodegenerative disease usually presenting before the", " age of 30 and which is characterized by dystonia, L-dopa-responsive <em class=\"hilite\">parkinsonism</em>, pyramidal signs and"]}, "NCBIGene:100911365": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1-like"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1-like"]}, "OMIM:606852": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease, Age at Onset of", "<em class=\"hilite\">PARKINSON</em> DISEASE 10; PARK10", "<em class=\"hilite\">Parkinson</em> Disease type 10", "<em class=\"hilite\">Parkinson</em> Disease, Age At Onset Of"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease, Age at Onset of", "<em class=\"hilite\">PARKINSON</em> DISEASE 10; PARK10", "<em class=\"hilite\">Parkinson</em> Disease type 10", "<em class=\"hilite\">Parkinson</em> Disease, Age At Onset Of"]}, "OMIM:614203": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease type 17", "autosomal dominant <em class=\"hilite\">Parkinson</em> disease 17", "<em class=\"hilite\">Parkinson</em> disease type 17", "<em class=\"hilite\">PARKINSON</em> DISEASE 17; PARK17"], "definition_eng": ["A late-onset <em class=\"hilite\">Parkinson</em> disease that has_material_basis_in heterozygous mutation in the VPS35 gene"], "definition_std": ["A late-onset <em class=\"hilite\">Parkinson</em> disease that has_material_basis_in heterozygous mutation in the VPS35 gene"], "label_std": ["<em class=\"hilite\">Parkinson</em> disease 17"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease type 17", "autosomal dominant <em class=\"hilite\">Parkinson</em> disease 17", "<em class=\"hilite\">Parkinson</em> disease type 17", "<em class=\"hilite\">PARKINSON</em> DISEASE 17; PARK17"], "label_eng": ["<em class=\"hilite\">Parkinson</em> disease 17"]}, "MESH:C537176": {"label_std": ["<em class=\"hilite\">Parkinson</em> disease 3"], "synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease type 3"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease type 3"], "label_eng": ["<em class=\"hilite\">Parkinson</em> disease 3"]}, "NCBIGene:5071": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)", "<em class=\"hilite\">parkinson</em> juvenile disease protein 2", "<em class=\"hilite\">parkinson</em> protein 2 E3 ubiquitin protein ligase"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)", "<em class=\"hilite\">parkinson</em> juvenile disease protein 2", "<em class=\"hilite\">parkinson</em> protein 2 E3 ubiquitin protein ligase"]}, "Orphanet:314632": {"label_eng": ["<em class=\"hilite\">Parkinsonism</em> due to ATP13A2 deficiency"]}, "NCBIGene:395277": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> disease protein 7 homolog", "<em class=\"hilite\">Parkinson</em> disease 7"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> disease protein 7 homolog", "<em class=\"hilite\">Parkinson</em> disease 7"]}, "OMIM:613164": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease type 16", "<em class=\"hilite\">PARKINSON</em> DISEASE 16; PARK16"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease type 16", "<em class=\"hilite\">PARKINSON</em> DISEASE 16; PARK16"]}, "DOID:0060893": {"label_std": ["juvenile-onset <em class=\"hilite\">Parkinson</em> disease"], "label_eng": ["juvenile-onset <em class=\"hilite\">Parkinson</em> disease"]}, "OMIM:300557": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease, X-Linked", "<em class=\"hilite\">Parkinson</em> Disease type 12", "<em class=\"hilite\">PARKINSON</em> DISEASE 12; PARK12"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease, X-Linked", "<em class=\"hilite\">Parkinson</em> Disease type 12", "<em class=\"hilite\">PARKINSON</em> DISEASE 12; PARK12"]}, "OMIM:168601": {"label_eng": ["autosomal dominant <em class=\"hilite\">Parkinson</em> disease 1"], "label_std": ["autosomal dominant <em class=\"hilite\">Parkinson</em> disease 1"], "synonym_eng": ["autosomal dominant <em class=\"hilite\">Parkinson</em> disease type 1", "<em class=\"hilite\">Parkinson</em> Disease 1, Autosomal Dominant Lewy Body", "<em class=\"hilite\">PARKINSON</em> DISEASE 1, AUTOSOMAL DOMINANT; PARK1", "Atypical <em class=\"hilite\">Parkinson</em> Disease"], "synonym_std": ["autosomal dominant <em class=\"hilite\">Parkinson</em> disease type 1", "<em class=\"hilite\">Parkinson</em> Disease 1, Autosomal Dominant Lewy Body", "<em class=\"hilite\">PARKINSON</em> DISEASE 1, AUTOSOMAL DOMINANT; PARK1", "Atypical <em class=\"hilite\">Parkinson</em> Disease"], "definition_eng": ["A <em class=\"hilite\">Parkinson's</em> disease that has_material_basis_in mutation in the alpha-synuclein (SNCA) gene"]}, "Orphanet:411602": {"synonym_eng": ["Autosomal dominant late-onset <em class=\"hilite\">Parkinson</em> disease"], "definition_eng": ["Hereditary late-onset <em class=\"hilite\">Parkinson</em> disease (LOPD) is a form of <em class=\"hilite\">Parkinson</em> disease (PD), characterized"], "definition_std": ["Hereditary late-onset <em class=\"hilite\">Parkinson</em> disease (LOPD) is a form of <em class=\"hilite\">Parkinson</em> disease (PD), characterized"], "label_std": ["Hereditary late-onset <em class=\"hilite\">Parkinson</em> disease"], "synonym_std": ["Autosomal dominant late-onset <em class=\"hilite\">Parkinson</em> disease"], "label_eng": ["Hereditary late-onset <em class=\"hilite\">Parkinson</em> disease"]}, "OMIM:556500": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease, Mitochondrial"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE, MITOCHONDRIAL"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE, MITOCHONDRIAL"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease, Mitochondrial"]}, "OMIM:105500": {"synonym_eng": ["Amyotrophic lateral sclerosis-<em class=\"hilite\">parkinsonism</em>-dementia of Guam syndrome", "Amyotrophic Lateral Sclerosis-<em class=\"hilite\">Parkinsonism</em>/Dementia Complex of Guam", "Amyotrophic Lateral Sclerosis-<em class=\"hilite\">Parkinsonism</em>/Dementia Complex type 1", "AMYOTROPHIC LATERAL SCLEROSIS-<em class=\"hilite\">PARKINSONISM</em>/DEMENTIA COMPLEX 1", "<em class=\"hilite\">Parkinsonism</em>-dementia-ALS complex"], "label_eng": ["Amyotrophic lateral sclerosis-<em class=\"hilite\">parkinsonism</em>-dementia complex"]}, "NCBIGene:101082778": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"]}, "NCBIGene:57320": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> disease protein 7 homolog"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> disease protein 7 homolog"]}, "NCBIGene:100486045": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"]}, "NCBIGene:741350": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"]}, "OMIM:607060": {"label_eng": ["autosomal dominant <em class=\"hilite\">Parkinson</em> disease 8"], "label_std": ["autosomal dominant <em class=\"hilite\">Parkinson</em> disease 8"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE 8, AUTOSOMAL DOMINANT; PARK8", "autosomal dominant <em class=\"hilite\">Parkinson</em> disease type 8"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE 8, AUTOSOMAL DOMINANT; PARK8", "autosomal dominant <em class=\"hilite\">Parkinson</em> disease type 8"], "definition_eng": ["A <em class=\"hilite\">Parkinson's</em> disease that has_material_basis_in heterozygous mutation in the dardarin encoding"]}, "MESH:C566017": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 5"], "synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease type 5"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease type 5"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 5"]}, "OMIM:616710": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 22, Autosomal Dominant; PARK22"], "synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease 22, Autosomal Dominant"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease 22, Autosomal Dominant"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 22, Autosomal Dominant; PARK22"]}, "OMIM:614251": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 18, Autosomal Dominant, Susceptibility to"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK18"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK18"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 18, Autosomal Dominant, Susceptibility to"]}, "NCBIGene:100551640": {"synonym_eng": ["<em class=\"hilite\">parkinson</em> protein 7"], "synonym_std": ["<em class=\"hilite\">parkinson</em> protein 7"]}, "HP:0001300": {"synonym_eng": ["<em class=\"hilite\">Parkinsonian</em> disease"], "label_eng": ["<em class=\"hilite\">Parkinsonism</em>"]}, "OMIM:613135": {"synonym_eng": ["<em class=\"hilite\">PARKINSONISM</em>-DYSTONIA, INFANTILE; PKDYS"], "label_eng": ["Infantile dystonia-<em class=\"hilite\">parkinsonism</em>"], "definition_eng": ["Infantile dystonia-<em class=\"hilite\">parkinsonism</em> (IPD) is an extremely rare inherited neurological syndrome that", " presents in early infancy with hypokinetic <em class=\"hilite\">parkinsonism</em> and dystonia and that can be fatal."]}, "Orphanet:98933": {"synonym_eng": ["MSA, <em class=\"hilite\">parkinsonian</em> type"], "label_eng": ["Multiple system atrophy, <em class=\"hilite\">parkinsonian</em> type"], "definition_eng": ["Multiple system atrophy, <em class=\"hilite\">parkinsonian</em> type (MSA-p) is a form of multiple system atrophy (MSA; see", " this term) with predominant <em class=\"hilite\">parkinsonian</em> features (bradykinesia, rigidity, irregular jerky postural"]}, "OMIM:194200": {"label_std": ["Wolff-<em class=\"hilite\">Parkinson</em>-White syndrome"], "synonym_eng": ["Syndrome, Wolf-<em class=\"hilite\">Parkinson</em>-White", "Wolff <em class=\"hilite\">Parkinson</em> White Syndrome", "WOLFF-<em class=\"hilite\">PARKINSON</em>-WHITE SYNDROME", "Wolff-<em class=\"hilite\">Parkinson</em>-White pattern (finding)", "Syndrome, Wolff-<em class=\"hilite\">Parkinson</em>-White", "Wolf <em class=\"hilite\">Parkinson</em> White Syndrome", "Wolf-<em class=\"hilite\">Parkinson</em>-White Syndrome"], "synonym_std": ["Syndrome, Wolf-<em class=\"hilite\">Parkinson</em>-White", "Wolff <em class=\"hilite\">Parkinson</em> White Syndrome", "WOLFF-<em class=\"hilite\">PARKINSON</em>-WHITE SYNDROME", "Wolff-<em class=\"hilite\">Parkinson</em>-White pattern (finding)", "Syndrome, Wolff-<em class=\"hilite\">Parkinson</em>-White", "Wolf <em class=\"hilite\">Parkinson</em> White Syndrome", "Wolf-<em class=\"hilite\">Parkinson</em>-White Syndrome"], "label_eng": ["Wolff-<em class=\"hilite\">Parkinson</em>-White syndrome"]}, "OMIM:615530": {"synonym_eng": ["early-onset <em class=\"hilite\">Parkinson</em> disease type 20", "<em class=\"hilite\">PARKINSON</em> DISEASE 20, EARLY-ONSET; PARK20"], "definition_eng": ["An early-onset <em class=\"hilite\">Parkinson</em> disease that has_material_basis_in homozygous mutation in the SYNJ1 gene"], "definition_std": ["An early-onset <em class=\"hilite\">Parkinson</em> disease that has_material_basis_in homozygous mutation in the SYNJ1 gene"], "label_std": ["early-onset <em class=\"hilite\">Parkinson</em> disease 20"], "synonym_std": ["early-onset <em class=\"hilite\">Parkinson</em> disease type 20", "<em class=\"hilite\">PARKINSON</em> DISEASE 20, EARLY-ONSET; PARK20"], "label_eng": ["early-onset <em class=\"hilite\">Parkinson</em> disease 20"]}, "OMIM:615528": {"label_eng": ["juvenile onset <em class=\"hilite\">Parkinson</em> disease 19A"], "label_std": ["juvenile onset <em class=\"hilite\">Parkinson</em> disease 19A"], "synonym_eng": ["juvenile onset <em class=\"hilite\">Parkinson</em> disease type 19A", "<em class=\"hilite\">PARKINSON</em> DISEASE 19, JUVENILE-ONSET; PARK19"], "synonym_std": ["juvenile onset <em class=\"hilite\">Parkinson</em> disease type 19A", "<em class=\"hilite\">PARKINSON</em> DISEASE 19, JUVENILE-ONSET; PARK19"], "definition_eng": ["A <em class=\"hilite\">Parkinson's</em> disease that has_material_basis_in homozygous mutation in the DNAJC6 gene"]}, "DOID:0060892": {"label_std": ["late onset <em class=\"hilite\">Parkinson</em> disease"], "label_eng": ["late onset <em class=\"hilite\">Parkinson</em> disease"]}, "DOID:0060894": {"synonym_eng": ["Early-onset <em class=\"hilite\">Parkinson</em> disease"], "definition_eng": ["Young-onset <em class=\"hilite\">Parkinson</em> disease (YOPD) is a form of <em class=\"hilite\">Parkinson</em> disease (PD), characterized by an age"], "definition_std": ["Young-onset <em class=\"hilite\">Parkinson</em> disease (YOPD) is a form of <em class=\"hilite\">Parkinson</em> disease (PD), characterized by an age"], "label_std": ["early-onset <em class=\"hilite\">Parkinson</em> disease"], "synonym_std": ["Early-onset <em class=\"hilite\">Parkinson</em> disease"], "label_eng": ["early-onset <em class=\"hilite\">Parkinson</em> disease"]}, "MESH:C564631": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 8"], "synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease type 8"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease type 8"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 8"]}, "NCBIGene:101078161": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1-like"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1-like"]}, "OMIM:300911": {"synonym_eng": ["<em class=\"hilite\">PARKINSONISM</em> WITH SPASTICITY, X-LINKED; XPDS"], "label_eng": ["X-linked <em class=\"hilite\">parkinsonism</em>-spasticity syndrome"]}, "OMIM:168605": {"synonym_eng": ["<em class=\"hilite\">Parkinsonism</em> with alveolar hypoventilation and mental depression", "<em class=\"hilite\">parkinsonism</em> with alveolar hypoventilation and mental depression", "<em class=\"hilite\">Parkinsonism</em> With Alveolar Hypoventilation and Mental Depression", "<em class=\"hilite\">Parkinsonism</em> with Alveolar Hypoventilation and Mental Depression"], "definition_eng": [" early-onset <em class=\"hilite\">parkinsonism</em>, central hypoventilation, weight loss, insomnia and depression."]}, "MESH:C564345": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 11"], "synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease type 11"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease type 11"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 11"]}, "NCBIGene:610760": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"]}, "Orphanet:68402": {"label_eng": ["Rare <em class=\"hilite\">parkinsonian</em> disorder"]}, "OMIM:613643": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 5, Autosomal Dominant, Susceptibility to"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 5, Autosomal Dominant, Susceptibility to"]}, "NCBIGene:423020": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"]}, "NCBIGene:100511802": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"]}, "NCBIGene:720833": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"]}, "NCBIGene:11315": {"synonym_eng": ["<em class=\"hilite\">Parkinsonism</em> associated deglycase", "<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> protein 7"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> protein 7"]}, "NCBIGene:530858": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"]}, "NCBIGene:548568": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> protein 7"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> protein 7"]}, "MESH:C565204": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 13"], "synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease type 13"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease type 13"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 13"]}, "OMIM:260540": {"label_eng": ["Progressive supranuclear palsy-<em class=\"hilite\">parkinsonism</em> syndrome"], "synonym_eng": ["PSP-<em class=\"hilite\">parkinsonism</em>", "<em class=\"hilite\">PARKINSON</em>-DEMENTIA SYNDROME"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em>-DEMENTIA SYNDROME"], "definition_eng": ["PSP-<em class=\"hilite\">parkinsonism</em> (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this"]}, "NCBIGene:449674": {"synonym_eng": ["<em class=\"hilite\">parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> protein 7", "<em class=\"hilite\">parkinson</em> disease protein 7 homolog"], "synonym_std": ["<em class=\"hilite\">parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> protein 7", "<em class=\"hilite\">parkinson</em> disease protein 7 homolog"]}, "MESH:C567844": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease 14, Autosomal Recessive"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease 14, Autosomal Recessive"], "label_eng": ["Dystonia-<em class=\"hilite\">Parkinsonism</em>, Adult-Onset"]}, "NCBIGene:513454": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"]}, "NCBIGene:347862": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"]}, "NCBIGene:100855533": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"]}, "NCBIGene:100083988": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"]}}, "pagination": {}} |