{
    "disease_id": "DOID:0110964",
    "recommended_name": {
        "id": "DOID:0110964",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110964",
        "name": "brachydactyly type A1",
        "description": "A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes."
    },
    "synonyms": [
        {
            "id": "DOID:0110964",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110964",
            "name": "BDA1",
            "description": ""
        },
        {
            "id": "DOID:0110964",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110964",
            "name": "Farabee type brachydactyly",
            "description": ""
        },
        {
            "id": "MONDO:0007215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007215",
            "name": "brachydactyly type A1",
            "description": "A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association."
        },
        {
            "id": "MONDO:0007215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007215",
            "name": "BDA1",
            "description": ""
        },
        {
            "id": "MONDO:0007215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007215",
            "name": "brachydactyly, Farabee type",
            "description": ""
        },
        {
            "id": "MONDO:0007215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007215",
            "name": "brachydactyly Farabee type",
            "description": ""
        },
        {
            "id": "MONDO:0007215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007215",
            "name": "brachydactyly, type A1",
            "description": ""
        },
        {
            "id": "MIM:112500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/112500",
            "name": "Brachydactyly A1",
            "description": "Brachydactyly A1"
        }
    ],
    "children": [
        {
            "id": "DOID:0110977",
            "label": "brachydactyly type A1C",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110978",
            "label": "brachydactyly type A1D",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0110978",
        "DOID:0110964",
        "DOID:0110977"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110964",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110964",
            "categories": []
        },
        {
            "id": "MONDO:0007215",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007215",
            "categories": []
        },
        {
            "id": "MIM:112500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/112500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B682-1",
            "uniprot_ac": "A0ACD6B682",
            "uniprot_id": "A0ACD6B682_DANRE",
            "refseq_ac": "XP_073810845",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth/differentiation factor 5 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 5 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gdf5",
                    "type": "recommended"
                },
                {
                    "name": "gdf5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B682-1",
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                    "id": "0110964",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110964"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q98862-1",
            "uniprot_ac": "Q98862",
            "uniprot_id": "IHH_DANRE",
            "refseq_ac": "NP_571163",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Indian hedgehog B protein",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "EHH",
                    "type": "synonym"
                },
                {
                    "name": "Echidna hedgehog protein",
                    "type": "synonym"
                },
                {
                    "name": "IHHB",
                    "type": "synonym"
                },
                {
                    "name": "Indian hedgehog homolog b",
                    "type": "synonym"
                },
                {
                    "name": "echidna hedgehog protein",
                    "type": "synonym"
                },
                {
                    "name": "hh[b]",
                    "type": "synonym"
                },
                {
                    "name": "hhb",
                    "type": "synonym"
                },
                {
                    "name": "indian hedgehog B protein precursor",
                    "type": "synonym"
                },
                {
                    "name": "indian hedgehog B protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ihhb",
                    "type": "recommended"
                },
                {
                    "name": "IHH",
                    "type": "synonym"
                },
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                    "name": "ehh",
                    "type": "synonym"
                },
                {
                    "name": "ihhb",
                    "type": "synonym"
                },
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                    "name": "ihh",
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                },
                {
                    "name": "zgc:113262",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0110964",
                    "database": "AGR",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97812-1",
            "uniprot_ac": "P97812",
            "uniprot_id": "IHH_MOUSE",
            "refseq_ac": "NP_034674",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Indian hedgehog protein",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "HHG-2",
                    "type": "synonym"
                },
                {
                    "name": "IHH",
                    "type": "synonym"
                },
                {
                    "name": "indian hedgehog protein isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "indian hedgehog protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ihh",
                    "type": "recommended"
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                {
                    "name": "HHG-2",
                    "type": "synonym"
                },
                {
                    "name": "Ihh",
                    "type": "synonym"
                }
            ],
            "record_id": "P97812-1",
            "evidence": [
                {
                    "id": "0110964",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110964"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43027-1",
            "uniprot_ac": "P43027",
            "uniprot_id": "GDF5_MOUSE",
            "refseq_ac": "NP_032135",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth/differentiation factor 5",
                    "type": "recommended"
                },
                {
                    "name": "BMP-14",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein 14",
                    "type": "synonym"
                },
                {
                    "name": "GDF-5",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 14",
                    "type": "synonym"
                },
                {
                    "name": "cartilage-derived morphogenetic protein-1",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 5 preproprotein",
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                }
            ],
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                    "name": "Gdf5",
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                },
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                    "name": "BMP-14",
                    "type": "synonym"
                },
                {
                    "name": "Bmp14",
                    "type": "synonym"
                },
                {
                    "name": "Bp",
                    "type": "synonym"
                },
                {
                    "name": "Cdmp-1",
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                },
                {
                    "name": "Gdf-5",
                    "type": "synonym"
                },
                {
                    "name": "Gdf5",
                    "type": "synonym"
                },
                {
                    "name": "bp",
                    "type": "synonym"
                },
                {
                    "name": "brp",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0110964",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110964"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14623-1",
            "uniprot_ac": "Q14623",
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            "refseq_ac": "NP_002172",
            "glycoprotein": "yes",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Indian hedgehog protein",
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                },
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                    "name": "HHG-2",
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                },
                {
                    "name": "IHH",
                    "type": "synonym"
                },
                {
                    "name": "Indian hedgehog homolog",
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                    "name": "indian hedgehog protein preproprotein",
                    "type": "synonym"
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                {
                    "name": "indian hedgehog protein",
                    "type": "synonym"
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            ],
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                    "name": "IHH",
                    "type": "recommended"
                },
                {
                    "name": "BDA1",
                    "type": "synonym"
                },
                {
                    "name": "HHG2",
                    "type": "synonym"
                },
                {
                    "name": "IHH",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14623-1",
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                    "id": "112500",
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                },
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                    "id": "0110964",
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            ]
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            "uniprot_canonical_ac": "M0RAY4-1",
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                    "name": "Rattus norvegicus",
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                }
            ],
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                    "name": "Growth/differentiation factor 5",
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                    "name": "Cdmp1",
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                    "name": "Hedgehog protein",
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                    "id": "0110964",
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        {
            "uniprot_canonical_ac": "Q02936-1",
            "uniprot_ac": "Q02936",
            "uniprot_id": "HH_DROME",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "Protein hedgehog",
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                    "name": "3.1.-.-",
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                    "name": "CG4637-PB",
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                {
                    "name": "PKC",
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                    "name": "atypical",
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                {
                    "name": "bar-on-3",
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                {
                    "name": "hedgehog",
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                {
                    "name": "hedghog",
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                {
                    "name": "hh-PB",
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                {
                    "name": "mirabile",
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                {
                    "name": "moonrat",
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                    "name": "hh",
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                    "name": "CG4637",
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                {
                    "name": "Dmel\\CG4637",
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                    "name": "Dmhh",
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                    "name": "HH",
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                    "name": "Hg",
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                {
                    "name": "Hh",
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                {
                    "name": "Mir",
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                {
                    "name": "Mrt",
                    "type": "synonym"
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                {
                    "name": "anon-WO0134654.19",
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                {
                    "name": "anon-WO0182946.19",
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                    "name": "bar-3",
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                {
                    "name": "bar3",
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                    "name": "bar",
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                    "name": "hg",
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                    "name": "hh",
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                {
                    "name": "l(3)hh",
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                    "name": "l(3)neo56",
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                {
                    "name": "l(3)neo57",
                    "type": "synonym"
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            ],
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                {
                    "id": "0110964",
                    "database": "AGR",
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                }
            ]
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        {
            "uniprot_canonical_ac": "P43026-1",
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                }
            ],
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                    "name": "Growth/differentiation factor 5",
                    "type": "recommended"
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                    "name": "BMP-14",
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                    "name": "Bone morphogenetic protein 14",
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                {
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                    "name": "Cartilage-derived morphogenetic protein 1",
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                    "name": "GDF-5",
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                    "name": "LAP-4",
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                {
                    "name": "LPS-associated protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Lipopolysaccharide-associated protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Radotermin",
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                },
                {
                    "name": "bone morphogenetic protein 14",
                    "type": "synonym"
                },
                {
                    "name": "cartilage-derived morphogenetic protein-1",
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                {
                    "name": "growth/differentiation factor 5 preproprotein",
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                {
                    "name": "lipopolysaccharide-associated protein 4",
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                    "name": "radotermin",
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            ],
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                    "name": "GDF5",
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                },
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                    "name": "BDA1C",
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                {
                    "name": "BMP-14",
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                    "name": "BMP14",
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                    "name": "CDMP1",
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                {
                    "name": "DUPANS",
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                {
                    "name": "GDF5",
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                    "name": "LAP-4",
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                {
                    "name": "LAP4",
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                },
                {
                    "name": "OS5",
                    "type": "synonym"
                },
                {
                    "name": "SYM1B",
                    "type": "synonym"
                },
                {
                    "name": "SYNS2",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0110964",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110964"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110964"
}