{
    "disease_id": "DOID:0111261", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011730", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011730", 
            "name": "fumaric aciduria"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011730", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011730", 
            "name": "fumarate hydratase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011730", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011730", 
            "name": "fumarase deficiency; FMRD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011730", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011730", 
            "name": "FMRD"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111261", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111261", 
            "name": "FMRD"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111261", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111261", 
            "name": "fumaric aciduria"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111261", 
        "description": "An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111261", 
        "name": "fumarase deficiency"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111261#disease-associations", 
            "id": "0111261", 
            "database": "Alliance of Genome Resources"
        }
    ]
}
