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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2750" } ] }, { "disease_id": "DOID:2750", "recommended_name": { "id": "DOID:2750", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2750", "name": "glycogen storage disease IV", "description": "A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12." }, "synonyms": [ { "id": "DOID:2750", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2750", "name": "Amylopectinosis", "description": "" }, { "id": "DOID:2750", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2750", "name": "Branching-transferase deficiency glycogenosis", "description": "" }, { "id": "DOID:2750", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2750", "name": "Glycogen storage disease, type IV", "description": "" 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"MONDO:0009292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009292", "name": "GSD type IV", "description": "" }, { "id": "MONDO:0009292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009292", "name": "amylopectinosis", "description": "" }, { "id": "MONDO:0009292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009292", "name": "brancher deficiency glycogenosis", "description": "" }, { "id": "MONDO:0009292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009292", "name": "branching-transferase deficiency glycogenosis", "description": "" }, { "id": "MONDO:0009292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009292", "name": "deficiency of 1,4-alpha-glucan branching enzyme", "description": "" }, { "id": "MONDO:0009292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009292", "name": "glycogen storage disease caused by 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{ "id": "MIM:232500", "resource": "MIM", "url": "https://www.omim.org/entry/232500", "name": "Glycogen storage disease 4", "description": "Glycogen storage disease 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "232500", "database": "MIM", "url": "https://www.omim.org/entry/232500" }, { "id": "2750", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2750" } ] } ] } ] } }