{
    "disease_id": "DOID:0080723",
    "recommended_name": {
        "id": "DOID:0080723",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080723",
        "name": "Kenny-Caffey syndrome type 2",
        "description": "A Kenny-Caffey syndrome that has_material_basis_in heterozygous mutation in the FAM111A gene on chromosome 11q12."
    },
    "synonyms": [
        {
            "id": "MONDO:0007478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007478",
            "name": "autosomal dominant Kenny-Caffey syndrome",
            "description": "An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones."
        },
        {
            "id": "MONDO:0007478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007478",
            "name": "KCS2",
            "description": ""
        },
        {
            "id": "MONDO:0007478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007478",
            "name": "Kenny-Caffey syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0007478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007478",
            "name": "Kenny-Caffey syndrome, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007478",
            "name": "Kenny-Caffey syndrome, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0007478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007478",
            "name": "dwarfism, cortical thickening of tubular bones and transient hypocalcemia",
            "description": ""
        },
        {
            "id": "MIM:127000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/127000",
            "name": "Kenny-Caffey syndrome 2",
            "description": "Kenny-Caffey syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080723"
    ],
    "unlinked_id_list": []
}