{
    "disease_id": "DOID:0111703",
    "recommended_name": {
        "id": "DOID:0111703",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111703",
        "name": "familial hypertryptophanemia",
        "description": "An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has_material_basis_in homozygous or compound heterozygous mutation in the TDO2 gene on chromosome 4q32.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111703",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111703",
            "name": "HYPTRP",
            "description": ""
        },
        {
            "id": "MONDO:0010907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010907",
            "name": "familial hypertryptophanemia",
            "description": "Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria."
        },
        {
            "id": "MONDO:0010907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010907",
            "name": "hypertryptophanemia",
            "description": ""
        },
        {
            "id": "MONDO:0010907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010907",
            "name": "familial hypertryptophanemia",
            "description": ""
        },
        {
            "id": "MONDO:0010907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010907",
            "name": "HYPTRP",
            "description": ""
        },
        {
            "id": "MIM:600627",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600627",
            "name": "Hypertryptophanemia",
            "description": "Hypertryptophanemia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111703"
    ],
    "unlinked_id_list": []
}