{
    "disease_id": "DOID:0110967",
    "recommended_name": {
        "id": "DOID:0110967",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110967",
        "name": "brachydactyly type A4",
        "description": "A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus."
    },
    "synonyms": [
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            "id": "DOID:0110967",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110967",
            "name": "BDA4",
            "description": ""
        },
        {
            "id": "DOID:0110967",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110967",
            "name": "Temtamy type brachydactyly",
            "description": ""
        },
        {
            "id": "DOID:0110967",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110967",
            "name": "brachymesophalangy II and V",
            "description": ""
        },
        {
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            "url": "https://monarchinitiative.org/disease/MONDO:0007218",
            "name": "brachydactyly type A4",
            "description": "Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit."
        },
        {
            "id": "MONDO:0007218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007218",
            "name": "BDA4",
            "description": ""
        },
        {
            "id": "MONDO:0007218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007218",
            "name": "Brachymesophalangy II and V",
            "description": ""
        },
        {
            "id": "MONDO:0007218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007218",
            "name": "Temtamy type brachydactyly",
            "description": ""
        },
        {
            "id": "MONDO:0007218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007218",
            "name": "brachydactyly, Temtamy type",
            "description": ""
        },
        {
            "id": "MONDO:0007218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007218",
            "name": "brachymesophalangy II and V",
            "description": ""
        },
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            "id": "MONDO:0007218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007218",
            "name": "brachydactyly Temtamy type",
            "description": ""
        },
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            "id": "MONDO:0007218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007218",
            "name": "brachydactyly, type A4",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110967"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110967",
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            "url": "https://disease-ontology.org/term/DOID:0110967",
            "categories": []
        },
        {
            "id": "MONDO:0007218",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007218",
            "categories": []
        }
    ],
    "proteins": [
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            "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",
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                },
                {
                    "name": "homeobox gene D-13",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Hox-D13a",
                    "type": "synonym"
                }
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                    "name": "hoxd13a",
                    "type": "recommended"
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                    "name": "hoxd-13",
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                },
                {
                    "name": "hoxd13a",
                    "type": "synonym"
                },
                {
                    "name": "hoxd13",
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                },
                {
                    "name": "zgc:110511",
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            ],
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                    "id": "0110967",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110967"
                }
            ]
        },
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            "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]"
                }
            ],
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                {
                    "name": "Homeobox protein Hox-4.8",
                    "type": "synonym"
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                    "name": "homeo box D13",
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                    "name": "homeobox protein Hox-4.8",
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                {
                    "name": "homeobox protein Hox-D13",
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                }
            ],
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                    "name": "Hoxd13",
                    "type": "recommended"
                },
                {
                    "name": "Hox-4.8",
                    "type": "synonym"
                },
                {
                    "name": "Hoxd13",
                    "type": "synonym"
                },
                {
                    "name": "spdh",
                    "type": "synonym"
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            "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]"
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            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Hox-D13",
                    "type": "recommended"
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                {
                    "name": "Hoxd13",
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            "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"
                }
            ],
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                {
                    "name": "HOXD13",
                    "type": "recommended"
                },
                {
                    "name": "BDE",
                    "type": "synonym"
                },
                {
                    "name": "BDSD",
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                },
                {
                    "name": "HOX4I",
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                },
                {
                    "name": "HOXD13",
                    "type": "synonym"
                },
                {
                    "name": "SPD1",
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                },
                {
                    "name": "SPD",
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                }
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            "record_id": "P35453-1",
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                    "id": "0110967",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110967"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110967"
}