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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110637" } ] }, { "disease_id": "DOID:0110637", "recommended_name": { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "muscular dystrophy-dystroglycanopathy type B6", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12." }, "synonyms": [ { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "MDC1D", "description": "" }, { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "MDDGB6", "description": "" }, { "id": "DOID:0110637", "resource": "Disease Ontology", "url": 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"MDDGB6", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "congenital muscular dystrophy large-related", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "congenital muscular dystrophy type 1D", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "muscular dystrophy, congenital, 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110637" } ] }, { "disease_id": "DOID:0110637", "recommended_name": { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "muscular dystrophy-dystroglycanopathy type B6", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12." }, "synonyms": [ { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "MDC1D", "description": "" }, { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "MDDGB6", "description": "" }, { "id": "DOID:0110637", "resource": "Disease Ontology", "url": 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