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disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ] } }