{
    "disease_id": "DOID:0111868", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010495", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010495", 
            "name": "trichothiodystrophy 5, nonphotosensitive"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010495", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010495", 
            "name": "RNF113A nonphotosensitive trichothiodystrophy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010495", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010495", 
            "name": "trichothiodystrophy 5, nonphotosensitive; TTD5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010495", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010495", 
            "name": "nonphotosensitive trichothiodystrophy caused by mutation in RNF113A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010495", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010495", 
            "name": "TTD5"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111868", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111868", 
            "name": "TTD5"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111868", 
        "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 RNF113A on chromosome Xq24.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111868", 
        "name": "nonphotosensitive trichothiodystrophy 5"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111868#disease-associations", 
            "id": "0111868", 
            "database": "Alliance of Genome Resources"
        }
    ]
}
