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"name": "globoid cell leukodystrophy", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "globoid cell leukoencephalopathy", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "later onset Krabbe disease", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "later-onset Krabbe disease", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "GLD", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "Krabbe leukodystrophy", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "galactosylceramide Beta-galactosidase deficiency", "description": "" }, { "id": "MIM:245200", "resource": "MIM", "url": "https://www.omim.org/entry/245200", "name": "Krabbe disease", "description": "Krabbe disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "10587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10587" } ] }, { "disease_id": "DOID:10587", "recommended_name": { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "Krabbe disease", "description": "" }, "synonyms": [ { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "Diffuse globoid body sclerosis", "description": "" }, { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "GLOBOID CELL LEUKOENCEPHALOPATHY", "description": "" }, { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "Galactosylceramide beta-galactosidase deficiency", "description": "" }, { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "Krabbe's disease", "description": "" }, { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "Krabbe's leukodystrophy", "description": "" }, { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "beta galactocerebrosidase deficiency", "description": "" }, { "id": "DOID:10587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10587", "name": "globoid cell leukodystrophy", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "Krabbe disease", "description": "A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "GALC deficiency", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "GALC enzyme deficiency", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "Krabbe disease", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "Krabbe's disease", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "Krabbe's leukodystrophy", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "Leukodystrophy, Krabbe's", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "beta galactocerebrosidase deficiency", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "diffuse globoid body sclerosis", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "galactocerebrosidase deficiency", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "galactosylceramidase deficiency", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "galactosylceramide lipidosis", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "globoid cell leukodystrophy", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "globoid cell leukoencephalopathy", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "later onset Krabbe disease", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "later-onset Krabbe disease", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "GLD", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "Krabbe leukodystrophy", "description": "" }, { "id": "MONDO:0009499", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009499", "name": "galactosylceramide Beta-galactosidase deficiency", "description": "" }, { "id": "MIM:245200", "resource": "MIM", "url": "https://www.omim.org/entry/245200", "name": "Krabbe disease", "description": "Krabbe disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "10587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10587" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ] } }