{
    "disease_id": "DOID:0112340",
    "recommended_name": {
        "id": "DOID:0112340",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112340",
        "name": "craniotubular dysplasia Ikegawa type",
        "description": "A craniodiaphyseal dysplasia characterized by childhood-onset short stature in association with macrocephaly, dolichocephaly, or prominent forehead that has_material_basis_in homozygous or compound heterozygous mutation in TMEM53 on chromosome 1p34.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112340",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112340",
            "name": "CTDI",
            "description": ""
        },
        {
            "id": "MIM:619727",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619727",
            "name": "Craniotubular dysplasia, Ikegawa type",
            "description": "Craniotubular dysplasia, Ikegawa type"
        }
    ]
}