{
    "disease_id": "DOID:0111261",
    "recommended_name": {
        "id": "DOID:0111261",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111261",
        "name": "fumarase deficiency",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0111261",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111261",
            "name": "FMRD",
            "description": ""
        },
        {
            "id": "DOID:0111261",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111261",
            "name": "fumaric aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0011730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011730",
            "name": "fumaric aciduria",
            "description": "Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment."
        },
        {
            "id": "MONDO:0011730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011730",
            "name": "fumaric aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0011730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011730",
            "name": "fumarate hydratase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011730",
            "name": "fumarase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011730",
            "name": "fumarase deficiency; FMRD",
            "description": ""
        },
        {
            "id": "MONDO:0011730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011730",
            "name": "FMRD",
            "description": ""
        },
        {
            "id": "MIM:606812",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606812",
            "name": "Fumarase deficiency",
            "description": "Fumarase deficiency"
        }
    ]
}