{
    "disease_id": "DOID:0080724",
    "recommended_name": {
        "id": "DOID:0080724",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080724",
        "name": "Kenny-Caffey syndrome",
        "description": "A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia."
    },
    "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": "DOID:0080722",
            "label": "Kenny-Caffey syndrome type 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080723",
            "label": "Kenny-Caffey syndrome type 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080722",
        "DOID:0080723",
        "DOID:0080724"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080724",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080724",
            "categories": []
        },
        {
            "id": "MONDO:0007478",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007478",
            "categories": []
        },
        {
            "id": "MIM:127000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/127000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q96PZ2-1",
            "uniprot_ac": "Q96PZ2",
            "uniprot_id": "F111A_HUMAN",
            "refseq_ac": "NP_001135991",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine protease FAM111A",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "family with sequence similarity 111 member A",
                    "type": "synonym"
                },
                {
                    "name": "protein FAM111A",
                    "type": "synonym"
                },
                {
                    "name": "serine protease FAM111A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FAM111A",
                    "type": "recommended"
                },
                {
                    "name": "FAM111A",
                    "type": "synonym"
                },
                {
                    "name": "GCLEB",
                    "type": "synonym"
                },
                {
                    "name": "KCS2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1895",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96PZ2-1",
            "evidence": [
                {
                    "id": "127000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/127000"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080724"
}