{
    "disease_id": "DOID:0111160",
    "recommended_name": {
        "id": "DOID:0111160",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111160",
        "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome",
        "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16."
    },
    "synonyms": [
        {
            "id": "DOID:0111160",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111160",
            "name": "CATSHL syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012504",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012504",
            "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome",
            "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth."
        },
        {
            "id": "MONDO:0012504",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012504",
            "name": "CATSHL syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012504",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012504",
            "name": "CATSHLS",
            "description": ""
        },
        {
            "id": "MIM:610474",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610474",
            "name": "Camptodactyly, tall stature, and hearing loss syndrome",
            "description": "Camptodactyly, tall stature, and hearing loss syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111160"
    ],
    "unlinked_id_list": []
}