{
    "disease_id": "DOID:0080586",
    "recommended_name": {
        "id": "DOID:0080586",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080586",
        "name": "Van Maldergem syndrome 2",
        "description": "A Van Malergem syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FAT4 gene on chromosome 4q28."
    },
    "synonyms": [
        {
            "id": "MONDO:0014242",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014242",
            "name": "van Maldergem syndrome 2",
            "description": "Any van Maldergem syndrome in which the cause of the disease is a mutation in the FAT4 gene."
        },
        {
            "id": "MONDO:0014242",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014242",
            "name": "FAT4 van Maldergem syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014242",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014242",
            "name": "Van Maldergem syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014242",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014242",
            "name": "van Maldergem syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0014242",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014242",
            "name": "van Maldergem syndrome caused by mutation in FAT4",
            "description": ""
        },
        {
            "id": "MONDO:0014242",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014242",
            "name": "VMLDS2",
            "description": ""
        },
        {
            "id": "MIM:615546",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615546",
            "name": "Van Maldergem syndrome 2",
            "description": "Van Maldergem syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080586"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080586",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080586",
            "categories": []
        },
        {
            "id": "MONDO:0014242",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014242",
            "categories": []
        },
        {
            "id": "MIM:615546",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615546",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q2PZL6-1",
            "uniprot_ac": "Q2PZL6",
            "uniprot_id": "FAT4_MOUSE",
            "refseq_ac": "NP_899044",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protocadherin Fat 4",
                    "type": "recommended"
                },
                {
                    "name": "FAT tumor suppressor homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "Fat-like cadherin protein FAT-J",
                    "type": "synonym"
                },
                {
                    "name": "fat-like cadherin protein FAT-J",
                    "type": "synonym"
                },
                {
                    "name": "protocadherin Fat 4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protocadherin Fat 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fat4",
                    "type": "recommended"
                },
                {
                    "name": "6030410K14Rik",
                    "type": "synonym"
                },
                {
                    "name": "9430004M15",
                    "type": "synonym"
                },
                {
                    "name": "Fat4",
                    "type": "synonym"
                },
                {
                    "name": "Fatj",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2PZL6-1",
            "evidence": [
                {
                    "id": "0080586",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080586"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6V0I7-1",
            "uniprot_ac": "Q6V0I7",
            "uniprot_id": "FAT4_HUMAN",
            "refseq_ac": "NP_001278214",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protocadherin Fat 4",
                    "type": "recommended"
                },
                {
                    "name": "Cadherin family member 14",
                    "type": "synonym"
                },
                {
                    "name": "FAT tumor suppressor homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "Fat-like cadherin protein FAT-J",
                    "type": "synonym"
                },
                {
                    "name": "cadherin family member 14",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-related family member 11",
                    "type": "synonym"
                },
                {
                    "name": "fat-like cadherin protein FAT-J",
                    "type": "synonym"
                },
                {
                    "name": "hFat4",
                    "type": "synonym"
                },
                {
                    "name": "protocadherin Fat 4 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protocadherin Fat 4",
                    "type": "synonym"
                },
                {
                    "name": "putative protein product of Nbla00548",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FAT4",
                    "type": "recommended"
                },
                {
                    "name": "CDHF14",
                    "type": "synonym"
                },
                {
                    "name": "CDHR11",
                    "type": "synonym"
                },
                {
                    "name": "FAT-J",
                    "type": "synonym"
                },
                {
                    "name": "FAT4",
                    "type": "synonym"
                },
                {
                    "name": "FATJ",
                    "type": "synonym"
                },
                {
                    "name": "HKLLS2",
                    "type": "synonym"
                },
                {
                    "name": "NBLA00548",
                    "type": "synonym"
                },
                {
                    "name": "Nbla00548",
                    "type": "synonym"
                },
                {
                    "name": "VMLDS2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6V0I7-1",
            "evidence": [
                {
                    "id": "615546",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615546"
                },
                {
                    "id": "0080586",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080586"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZEH1-1",
            "uniprot_ac": "D3ZEH1",
            "uniprot_id": "D3ZEH1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protocadherin Fat 4",
                    "type": "recommended"
                },
                {
                    "name": "FAT tumor suppressor homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "Fat-like cadherin protein FAT-J",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fat4",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZEH1-1",
            "evidence": [
                {
                    "id": "0080586",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080586"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P33450-1",
            "uniprot_ac": "P33450",
            "uniprot_id": "FAT_DROME",
            "refseq_ac": "NP_477497",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cadherin-related tumor suppressor",
                    "type": "recommended"
                },
                {
                    "name": "CG3352-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein fat",
                    "type": "synonym"
                },
                {
                    "name": "fat",
                    "type": "synonym"
                },
                {
                    "name": "floppy-discs",
                    "type": "synonym"
                },
                {
                    "name": "ft-PA",
                    "type": "synonym"
                },
                {
                    "name": "giant discs 2",
                    "type": "synonym"
                },
                {
                    "name": "giant-discs-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ft",
                    "type": "recommended"
                },
                {
                    "name": "79/18",
                    "type": "synonym"
                },
                {
                    "name": "CG3352",
                    "type": "synonym"
                },
                {
                    "name": "CT11259",
                    "type": "synonym"
                },
                {
                    "name": "Dm Fat",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3352",
                    "type": "synonym"
                },
                {
                    "name": "FT",
                    "type": "synonym"
                },
                {
                    "name": "Fat",
                    "type": "synonym"
                },
                {
                    "name": "Ft",
                    "type": "synonym"
                },
                {
                    "name": "ft",
                    "type": "synonym"
                },
                {
                    "name": "l(2)24Da",
                    "type": "synonym"
                },
                {
                    "name": "l(2)79/18",
                    "type": "synonym"
                },
                {
                    "name": "l(2)fat",
                    "type": "synonym"
                },
                {
                    "name": "l(2)fd",
                    "type": "synonym"
                },
                {
                    "name": "l(2)ft",
                    "type": "synonym"
                },
                {
                    "name": "l(2)gd-1",
                    "type": "synonym"
                },
                {
                    "name": "l(2)gd-l",
                    "type": "synonym"
                },
                {
                    "name": "l(2)gd2",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k07918",
                    "type": "synonym"
                }
            ],
            "record_id": "P33450-1",
            "evidence": [
                {
                    "id": "0080586",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080586"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080586"
}