{
    "disease_id": "DOID:0111544",
    "recommended_name": {
        "id": "DOID:0111544",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111544",
        "name": "Guttmacher syndrome",
        "description": "A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111544",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111544",
            "name": "preaxial deficiency-postaxial polydactyly-hypospadias syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111544",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111544",
            "name": "autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias",
            "description": ""
        },
        {
            "id": "MONDO:0008301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008301",
            "name": "Guttmacher syndrome",
            "description": "Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias."
        },
        {
            "id": "MONDO:0008301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008301",
            "name": "Guttmacher syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008301",
            "name": "preaxial deficiency-postaxial polydactyly-hypospadias syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008301",
            "name": "autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias",
            "description": ""
        },
        {
            "id": "MONDO:0008301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008301",
            "name": "preaxial deficiency, postaxial polydactyly and hypospadias",
            "description": ""
        },
        {
            "id": "MIM:176305",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/176305",
            "name": "Guttmacher syndrome",
            "description": "Guttmacher syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111544"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111544",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111544",
            "categories": []
        },
        {
            "id": "MONDO:0008301",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008301",
            "categories": []
        },
        {
            "id": "MIM:176305",
            "database": "MIM",
            "url": "https://www.omim.org/entry/176305",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": "0111544",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111544"
                }
            ]
        },
        {
            "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": "0111544",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111544"
                }
            ]
        },
        {
            "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": "0111544",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111544"
                }
            ]
        },
        {
            "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": "176305",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/176305"
                },
                {
                    "id": "0111544",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111544"
                }
            ]
        },
        {
            "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": "0111544",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111544"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111544"
}