{
    "disease_id": "DOID:0111868",
    "recommended_name": {
        "id": "DOID:0111868",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111868",
        "name": "nonphotosensitive trichothiodystrophy 5",
        "description": "A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the RNF113A gene on chromosome Xq24."
    },
    "synonyms": [
        {
            "id": "DOID:0111868",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111868",
            "name": "TTD5",
            "description": ""
        },
        {
            "id": "MONDO:0010495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010495",
            "name": "trichothiodystrophy 5, nonphotosensitive",
            "description": "Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene."
        },
        {
            "id": "MONDO:0010495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010495",
            "name": "RNF113A nonphotosensitive trichothiodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010495",
            "name": "nonphotosensitive trichothiodystrophy caused by mutation in RNF113A",
            "description": ""
        },
        {
            "id": "MONDO:0010495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010495",
            "name": "trichothiodystrophy 5, nonphotosensitive",
            "description": ""
        },
        {
            "id": "MONDO:0010495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010495",
            "name": "TTD5",
            "description": ""
        },
        {
            "id": "MIM:300953",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300953",
            "name": "Trichothiodystrophy 5, non-photosensitive",
            "description": "Trichothiodystrophy 5, non-photosensitive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111868"
    ],
    "unlinked_id_list": []
}