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"description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type IIIC", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body variant of Alzheimer disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease with gaze palsy", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", 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"description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian 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"database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", 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