{
    "disease_id": "DOID:0060739",
    "recommended_name": {
        "id": "DOID:0060739",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060739",
        "name": "hand-foot-genital syndrome",
        "description": "A syndrome characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15."
    },
    "synonyms": [
        {
            "id": "DOID:0060739",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060739",
            "name": "HFGS",
            "description": ""
        },
        {
            "id": "DOID:0060739",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060739",
            "name": "hand-foot-uterus syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007698",
            "name": "hand-foot-genital syndrome",
            "description": "Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects."
        },
        {
            "id": "MONDO:0007698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007698",
            "name": "HFGS",
            "description": ""
        },
        {
            "id": "MONDO:0007698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007698",
            "name": "hand-foot-genital syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007698",
            "name": "hand-foot-uterus syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007698",
            "name": "HFG",
            "description": ""
        },
        {
            "id": "MONDO:0007698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007698",
            "name": "HFG syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007698",
            "name": "HFU syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007698",
            "name": "hand foot genital syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007698",
            "name": "hand foot uterus syndrome",
            "description": ""
        },
        {
            "id": "MIM:140000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/140000",
            "name": "Hand-foot-genital syndrome",
            "description": "Hand-foot-genital syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060739"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060739",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060739",
            "categories": []
        },
        {
            "id": "MONDO:0007698",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007698",
            "categories": []
        },
        {
            "id": "MIM:140000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/140000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P79724-2",
            "uniprot_ac": "P79724",
            "uniprot_id": "HXADB_DANRE",
            "refseq_ac": "NP_571269",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Hox-A13b",
                    "type": "recommended"
                },
                {
                    "name": "Hox-A13",
                    "type": "synonym"
                },
                {
                    "name": "homeo box A13b",
                    "type": "synonym"
                },
                {
                    "name": "homeobox gene A-13b",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Hox-A13b",
                    "type": "synonym"
                },
                {
                    "name": "hox-A13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hoxa13b",
                    "type": "recommended"
                },
                {
                    "name": "HOXA13",
                    "type": "synonym"
                },
                {
                    "name": "Hoxa-13",
                    "type": "synonym"
                },
                {
                    "name": "hoxa-13",
                    "type": "synonym"
                },
                {
                    "name": "hoxa13b",
                    "type": "synonym"
                },
                {
                    "name": "hoxa13",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa66g07",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110514",
                    "type": "synonym"
                }
            ],
            "record_id": "P79724-2",
            "evidence": [
                {
                    "id": "0060739",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060739"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6W990-1",
            "uniprot_ac": "Q6W990",
            "uniprot_id": "HXADA_DANRE",
            "refseq_ac": "NP_001078963",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Hox-A13a",
                    "type": "recommended"
                },
                {
                    "name": "homeo box A13a",
                    "type": "synonym"
                },
                {
                    "name": "homeobox gene A-13",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Hox-A13a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hoxa13a",
                    "type": "recommended"
                },
                {
                    "name": "hoxa13a",
                    "type": "synonym"
                },
                {
                    "name": "hoxa13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6W990-1",
            "evidence": [
                {
                    "id": "0060739",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060739"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62424-1",
            "uniprot_ac": "Q62424",
            "uniprot_id": "HXA13_MOUSE",
            "refseq_ac": "NP_032290",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Hox-A13",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein Hox-1.10",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Hox-1.10",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Hox-A13",
                    "type": "synonym"
                },
                {
                    "name": "hypodactyly",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hoxa13",
                    "type": "recommended"
                },
                {
                    "name": "Hd",
                    "type": "synonym"
                },
                {
                    "name": "Hox-1.10",
                    "type": "synonym"
                },
                {
                    "name": "Hoxa13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62424-1",
            "evidence": [
                {
                    "id": "0060739",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060739"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31271-1",
            "uniprot_ac": "P31271",
            "uniprot_id": "HXA13_HUMAN",
            "refseq_ac": "NP_000513",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Hox-A13",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein Hox-1J",
                    "type": "synonym"
                },
                {
                    "name": "homeo box 1J",
                    "type": "synonym"
                },
                {
                    "name": "homeo box A13",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein HOXA13",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Hox-1J",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Hox-A13",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor HOXA13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HOXA13",
                    "type": "recommended"
                },
                {
                    "name": "HOX1J",
                    "type": "synonym"
                },
                {
                    "name": "HOX1",
                    "type": "synonym"
                },
                {
                    "name": "HOXA13",
                    "type": "synonym"
                }
            ],
            "record_id": "P31271-1",
            "evidence": [
                {
                    "id": "140000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/140000"
                },
                {
                    "id": "0060739",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060739"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K6K0-1",
            "uniprot_ac": "A0A0G2K6K0",
            "uniprot_id": "A0A0G2K6K0_RAT",
            "refseq_ac": "NP_001258284",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeo box A13",
                    "type": "synonym"
                },
                {
                    "name": "homeobox A13",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Hox-A13-like",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Hox-A13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hoxa13",
                    "type": "recommended"
                },
                {
                    "name": "Hoxa13",
                    "type": "synonym"
                },
                {
                    "name": "RGD1562483",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K6K0-1",
            "evidence": [
                {
                    "id": "0060739",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060739"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060739"
}