{
    "disease_id": "DOID:0060238",
    "recommended_name": {
        "id": "DOID:0060238",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060238",
        "name": "Van Maldergem syndrome",
        "description": "A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation."
    },
    "synonyms": [
        {
            "id": "DOID:0060238",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060238",
            "name": "cerebro-facio-articular syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011070",
            "name": "van Maldergem syndrome 1",
            "description": "Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene."
        },
        {
            "id": "MONDO:0011070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011070",
            "name": "DCHS1 van Maldergem syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011070",
            "name": "Van Maldergem syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011070",
            "name": "van Maldergem syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0011070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011070",
            "name": "van Maldergem syndrome caused by mutation in DCHS1",
            "description": ""
        },
        {
            "id": "MONDO:0011070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011070",
            "name": "VMLDS1",
            "description": ""
        },
        {
            "id": "MIM:601390",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601390",
            "name": "Van Maldergem syndrome 1",
            "description": "Van Maldergem syndrome 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0080585",
            "label": "Van Maldergem syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080586",
            "label": "Van Maldergem syndrome 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080585",
        "DOID:0080586",
        "DOID:0060238"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060238",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060238",
            "categories": []
        },
        {
            "id": "MONDO:0011070",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011070",
            "categories": []
        },
        {
            "id": "MIM:601390",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601390",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q96JQ0-1",
            "uniprot_ac": "Q96JQ0",
            "uniprot_id": "PCD16_HUMAN",
            "refseq_ac": "NP_003728",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protocadherin-16",
                    "type": "recommended"
                },
                {
                    "name": "Cadherin-19",
                    "type": "synonym"
                },
                {
                    "name": "Cadherin-25",
                    "type": "synonym"
                },
                {
                    "name": "Fibroblast cadherin-1",
                    "type": "synonym"
                },
                {
                    "name": "Protein dachsous homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-19",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-25",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-related family member 6",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast cadherin 1",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast cadherin FIB1",
                    "type": "synonym"
                },
                {
                    "name": "myxomatous mitral valve prolapse 2",
                    "type": "synonym"
                },
                {
                    "name": "protein dachsous homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "protocadherin-16 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protocadherin-16",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DCHS1",
                    "type": "recommended"
                },
                {
                    "name": "CDH19",
                    "type": "synonym"
                },
                {
                    "name": "CDH25",
                    "type": "synonym"
                },
                {
                    "name": "CDHR6",
                    "type": "synonym"
                },
                {
                    "name": "DCHS1",
                    "type": "synonym"
                },
                {
                    "name": "FIB1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1773",
                    "type": "synonym"
                },
                {
                    "name": "MMVP2",
                    "type": "synonym"
                },
                {
                    "name": "MVP2",
                    "type": "synonym"
                },
                {
                    "name": "PCDH16",
                    "type": "synonym"
                },
                {
                    "name": "VMLDS1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96JQ0-1",
            "evidence": [
                {
                    "id": "601390",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601390"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060238"
}