{
    "disease_id": "DOID:0060242",
    "recommended_name": {
        "id": "DOID:0060242",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060242",
        "name": "synpolydactyly",
        "description": "A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOXD13 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0060242",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060242",
            "name": "syndactyly type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008513",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008513",
            "name": "synpolydactyly type 1",
            "description": "Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene."
        },
        {
            "id": "MONDO:0008513",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008513",
            "name": "HOXD13 non-syndromic synpolydactyly",
            "description": ""
        },
        {
            "id": "MONDO:0008513",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008513",
            "name": "SD2, Vordingborg type",
            "description": ""
        },
        {
            "id": "MONDO:0008513",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008513",
            "name": "SD2a",
            "description": ""
        },
        {
            "id": "MONDO:0008513",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008513",
            "name": "SPD, Vordingborg type",
            "description": ""
        },
        {
            "id": "MONDO:0008513",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008513",
            "name": "SPD1",
            "description": ""
        },
        {
            "id": "MONDO:0008513",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008513",
            "name": "non-syndromic synpolydactyly caused by mutation in HOXD13",
            "description": ""
        },
        {
            "id": "MONDO:0008513",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008513",
            "name": "synpolydactyly type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008513",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008513",
            "name": "synpolydactyly, Vordingborg type",
            "description": ""
        },
        {
            "id": "MONDO:0008513",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008513",
            "name": "synpolydactyly 1",
            "description": ""
        },
        {
            "id": "MONDO:0011984",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011984",
            "name": "synpolydactyly type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011984",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011984",
            "name": "SD2, Debeer type",
            "description": ""
        },
        {
            "id": "MONDO:0011984",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011984",
            "name": "SD2b",
            "description": ""
        },
        {
            "id": "MONDO:0011984",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011984",
            "name": "SPD, Debeer type",
            "description": ""
        },
        {
            "id": "MONDO:0011984",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011984",
            "name": "SPD2",
            "description": ""
        },
        {
            "id": "MONDO:0011984",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011984",
            "name": "synpolydactyly type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011984",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011984",
            "name": "synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses",
            "description": ""
        },
        {
            "id": "MONDO:0011984",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011984",
            "name": "synpolydactyly, Debeer type",
            "description": ""
        },
        {
            "id": "MONDO:0011984",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011984",
            "name": "synpolydactyly 2",
            "description": ""
        },
        {
            "id": "MONDO:0012447",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012447",
            "name": "synpolydactyly type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012447",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012447",
            "name": "SD2, Malik type",
            "description": ""
        },
        {
            "id": "MONDO:0012447",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012447",
            "name": "SD2c",
            "description": ""
        },
        {
            "id": "MONDO:0012447",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012447",
            "name": "SPD, Malik type",
            "description": ""
        },
        {
            "id": "MONDO:0012447",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012447",
            "name": "SPD3",
            "description": ""
        },
        {
            "id": "MONDO:0012447",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012447",
            "name": "synpolydactyly, Malik type",
            "description": ""
        },
        {
            "id": "MONDO:0012447",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012447",
            "name": "synpolydactyly 3",
            "description": ""
        },
        {
            "id": "MIM:186000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/186000",
            "name": "Synpolydactyly 1",
            "description": "Synpolydactyly 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060242"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060242",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060242",
            "categories": []
        },
        {
            "id": "MONDO:0008513",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008513",
            "categories": []
        },
        {
            "id": "MONDO:0011984",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011984",
            "categories": []
        },
        {
            "id": "MONDO:0012447",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012447",
            "categories": []
        },
        {
            "id": "MIM:186000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/186000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q90472-1",
            "uniprot_ac": "Q90472",
            "uniprot_id": "HXDDA_DANRE",
            "refseq_ac": "NP_571244",
            "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-D13a",
                    "type": "recommended"
                },
                {
                    "name": "Hox-D13",
                    "type": "synonym"
                },
                {
                    "name": "homeo box D13a",
                    "type": "synonym"
                },
                {
                    "name": "homeobox gene D-13",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Hox-D13a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hoxd13a",
                    "type": "recommended"
                },
                {
                    "name": "hoxd-13",
                    "type": "synonym"
                },
                {
                    "name": "hoxd13a",
                    "type": "synonym"
                },
                {
                    "name": "hoxd13",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110511",
                    "type": "synonym"
                }
            ],
            "record_id": "Q90472-1",
            "evidence": [
                {
                    "id": "0060242",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060242"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70217-1",
            "uniprot_ac": "P70217",
            "uniprot_id": "HXD13_MOUSE",
            "refseq_ac": "NP_032301",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Hox-D13",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein Hox-4.8",
                    "type": "synonym"
                },
                {
                    "name": "homeo box D13",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Hox-4.8",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Hox-D13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hoxd13",
                    "type": "recommended"
                },
                {
                    "name": "Hox-4.8",
                    "type": "synonym"
                },
                {
                    "name": "Hoxd13",
                    "type": "synonym"
                },
                {
                    "name": "spdh",
                    "type": "synonym"
                }
            ],
            "record_id": "P70217-1",
            "evidence": [
                {
                    "id": "0060242",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060242"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35453-1",
            "uniprot_ac": "P35453",
            "uniprot_id": "HXD13_HUMAN",
            "refseq_ac": "NP_000514",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Hox-D13",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein Hox-4I",
                    "type": "synonym"
                },
                {
                    "name": "homeo box 4I",
                    "type": "synonym"
                },
                {
                    "name": "homeo box D13",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Hox-4I",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Hox-D13",
                    "type": "synonym"
                },
                {
                    "name": "synpolydactyly",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HOXD13",
                    "type": "recommended"
                },
                {
                    "name": "BDE",
                    "type": "synonym"
                },
                {
                    "name": "BDSD",
                    "type": "synonym"
                },
                {
                    "name": "HOX4I",
                    "type": "synonym"
                },
                {
                    "name": "HOXD13",
                    "type": "synonym"
                },
                {
                    "name": "SPD1",
                    "type": "synonym"
                },
                {
                    "name": "SPD",
                    "type": "synonym"
                }
            ],
            "record_id": "P35453-1",
            "evidence": [
                {
                    "id": "186000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/186000"
                },
                {
                    "id": "0060242",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060242"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23142-1",
            "uniprot_ac": "P23142",
            "uniprot_id": "FBLN1_HUMAN",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibulin-1",
                    "type": "recommended"
                },
                {
                    "name": "FIBL-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FBLN1",
                    "type": "recommended"
                },
                {
                    "name": "PP213",
                    "type": "synonym"
                }
            ],
            "record_id": "P23142-1",
            "evidence": [
                {
                    "id": "608180",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608180"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NHQ8-1",
            "uniprot_ac": "Q8NHQ8",
            "uniprot_id": "RASF8_HUMAN",
            "refseq_ac": "NP_001158218",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras association domain-containing protein 8",
                    "type": "recommended"
                },
                {
                    "name": "Carcinoma-associated protein HOJ-1",
                    "type": "synonym"
                },
                {
                    "name": "Ras association (RalGDS/AF-6) domain family (N-terminal) member 8",
                    "type": "synonym"
                },
                {
                    "name": "carcinoma-associated protein HOJ-1",
                    "type": "synonym"
                },
                {
                    "name": "ras association domain-containing protein 8 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "ras association domain-containing protein 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RASSF8",
                    "type": "recommended"
                },
                {
                    "name": "C12orf2",
                    "type": "synonym"
                },
                {
                    "name": "HOJ1",
                    "type": "synonym"
                },
                {
                    "name": "RASSF8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NHQ8-1",
            "evidence": [
                {
                    "id": "608180",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608180"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4ACD0-1",
            "uniprot_ac": "D4ACD0",
            "uniprot_id": "D4ACD0_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Hox-D13",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Hoxd13",
                    "type": "recommended"
                }
            ],
            "record_id": "D4ACD0-1",
            "evidence": [
                {
                    "id": "0060242",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060242"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060242"
}