{
    "disease_id": "DOID:0080585",
    "recommended_name": {
        "id": "DOID:0080585",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080585",
        "name": "Van Maldergem syndrome 1",
        "description": "A Van Maldergem syndrome that has_material_basis_in homozygous mutation in the DCHS1 gene on chromosome 11p15."
    },
    "synonyms": [
        {
            "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_list": [
        "DOID:0080585"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080585",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080585",
            "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": "X1WDW2-1",
            "uniprot_ac": "X1WDW2",
            "uniprot_id": "X1WDW2_DANRE",
            "refseq_ac": "XP_002664697",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protocadherin-16",
                    "type": "recommended"
                },
                {
                    "name": "Protein dachsous homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "protocadherin-16",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dchs1a",
                    "type": "recommended"
                },
                {
                    "name": "dchs1a",
                    "type": "synonym"
                }
            ],
            "record_id": "X1WDW2-1",
            "evidence": [
                {
                    "id": "0080585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080585"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9QL21-1",
            "uniprot_ac": "A0A8M9QL21",
            "uniprot_id": "A0A8M9QL21_DANRE",
            "refseq_ac": "XP_021335025",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protocadherin-16",
                    "type": "recommended"
                },
                {
                    "name": "Protein dachsous homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "protocadherin-16",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dchs1b",
                    "type": "recommended"
                },
                {
                    "name": "dchs1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QL21-1",
            "evidence": [
                {
                    "id": "0080585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080585"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PVD3-1",
            "uniprot_ac": "E9PVD3",
            "uniprot_id": "PCD16_MOUSE",
            "refseq_ac": "NP_001156415",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protocadherin-16",
                    "type": "recommended"
                },
                {
                    "name": "Protein Dchs1",
                    "type": "synonym"
                },
                {
                    "name": "Protein dachsous homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "dachsous 1",
                    "type": "synonym"
                },
                {
                    "name": "protein Dchs1",
                    "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": "3110041P15Rik",
                    "type": "synonym"
                },
                {
                    "name": "C130033F22Rik",
                    "type": "synonym"
                },
                {
                    "name": "CDH25",
                    "type": "synonym"
                },
                {
                    "name": "Dchs1",
                    "type": "synonym"
                },
                {
                    "name": "FIB1",
                    "type": "synonym"
                },
                {
                    "name": "Gm165",
                    "type": "synonym"
                },
                {
                    "name": "PCDH16",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PVD3-1",
            "evidence": [
                {
                    "id": "0080585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080585"
                }
            ]
        },
        {
            "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"
                },
                {
                    "id": "0080585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080585"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4ACX8-1",
            "uniprot_ac": "D4ACX8",
            "uniprot_id": "PCD16_RAT",
            "refseq_ac": "NP_001101014",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protocadherin-16",
                    "type": "recommended"
                },
                {
                    "name": "Protein dachsous homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "dachsous 1",
                    "type": "synonym"
                },
                {
                    "name": "protein dachsous homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "protocadherin 16 dachsous-like",
                    "type": "synonym"
                },
                {
                    "name": "protocadherin-16 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protocadherin-16",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dchs1",
                    "type": "recommended"
                },
                {
                    "name": "Dchs1",
                    "type": "synonym"
                },
                {
                    "name": "Pcdh16",
                    "type": "synonym"
                }
            ],
            "record_id": "D4ACX8-1",
            "evidence": [
                {
                    "id": "0080585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080585"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24292-1",
            "uniprot_ac": "Q24292",
            "uniprot_id": "DS_DROME",
            "refseq_ac": "NP_001285551",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein dachsous",
                    "type": "recommended"
                },
                {
                    "name": "Adherin",
                    "type": "synonym"
                },
                {
                    "name": "CG17941-PB",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-2",
                    "type": "synonym"
                },
                {
                    "name": "dachsous, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "dachsous",
                    "type": "synonym"
                },
                {
                    "name": "daschous",
                    "type": "synonym"
                },
                {
                    "name": "ds-PB",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) 01855",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ds",
                    "type": "recommended"
                },
                {
                    "name": "CG17941",
                    "type": "synonym"
                },
                {
                    "name": "CT39575",
                    "type": "synonym"
                },
                {
                    "name": "DS",
                    "type": "synonym"
                },
                {
                    "name": "Dachsous",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17941",
                    "type": "synonym"
                },
                {
                    "name": "Ds",
                    "type": "synonym"
                },
                {
                    "name": "EP-822",
                    "type": "synonym"
                },
                {
                    "name": "cad2",
                    "type": "synonym"
                },
                {
                    "name": "ds",
                    "type": "synonym"
                },
                {
                    "name": "l(2)01855",
                    "type": "synonym"
                },
                {
                    "name": "l(2)05142",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24292-1",
            "evidence": [
                {
                    "id": "0080585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080585"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080585"
}