{
    "disease_id": "DOID:0080722",
    "recommended_name": {
        "id": "DOID:0080722",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080722",
        "name": "Kenny-Caffey syndrome type 1",
        "description": "A Kenny-Caffey syndrome that has_material_basis_in mutation in the gene encoding tubulin-specific chaperone E."
    },
    "synonyms": [
        {
            "id": "MONDO:0009486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009486",
            "name": "autosomal recessive Kenny-Caffey syndrome",
            "description": "An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet."
        },
        {
            "id": "MONDO:0009486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009486",
            "name": "Kenny-Caffey syndrome, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009486",
            "name": "Kcs",
            "description": ""
        },
        {
            "id": "MONDO:0009486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009486",
            "name": "Kenny-Caffey syndrome, type 1; KCS1",
            "description": ""
        },
        {
            "id": "MONDO:0009486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009486",
            "name": "Kenny-Caffey syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009486",
            "name": "Kenny-Caffey syndrome, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009486",
            "name": "KCS1",
            "description": ""
        },
        {
            "id": "MIM:244460",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/244460",
            "name": "Kenny-Caffey syndrome 1",
            "description": "Kenny-Caffey syndrome 1"
        }
    ]
}