{
    "disease_id": "DOID:0060987",
    "recommended_name": {
        "id": "DOID:0060987",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060987",
        "name": "preaxial polydactyly I",
        "description": "A polydactyly characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux that has_material_basis_in homozygous mutation in the GLI1 gene (165220) on chromosome 12q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0008269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008269",
            "name": "polydactyly of a biphalangeal thumb",
            "description": "Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left."
        },
        {
            "id": "MONDO:0008269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008269",
            "name": "PPD1",
            "description": ""
        },
        {
            "id": "MONDO:0008269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008269",
            "name": "polydactyly, preaxial type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008269",
            "name": "preaxial polydactyly type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008269",
            "name": "polydactyly preaxial 1",
            "description": ""
        },
        {
            "id": "MONDO:0008269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008269",
            "name": "preaxial polydactyly 1",
            "description": ""
        },
        {
            "id": "MIM:174400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/174400",
            "name": "Polydactyly, preaxial 1",
            "description": "Polydactyly, preaxial 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060987"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060987",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060987",
            "categories": []
        },
        {
            "id": "MONDO:0008269",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008269",
            "categories": []
        },
        {
            "id": "MIM:174400",
            "database": "MIM",
            "url": "https://www.omim.org/entry/174400",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QAC4-1",
            "uniprot_ac": "F1QAC4",
            "uniprot_id": "F1QAC4_DANRE",
            "refseq_ac": "NP_840081",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "GLI-Kruppel family member 1",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein GLI1",
                    "type": "synonym"
                },
                {
                    "name": "detour",
                    "type": "synonym"
                },
                {
                    "name": "dtr",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein GLI1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gli1",
                    "type": "recommended"
                },
                {
                    "name": "gli1",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QAC4-1",
            "evidence": [
                {
                    "id": "0060987",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060987"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47806-1",
            "uniprot_ac": "P47806",
            "uniprot_id": "GLI1_MOUSE",
            "refseq_ac": "NP_034426",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription activator GLI1",
                    "type": "recommended"
                },
                {
                    "name": "Glioma-associated oncogene homolog",
                    "type": "synonym"
                },
                {
                    "name": "glioma-associated oncogene homolog",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 5",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein GLI1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gli1",
                    "type": "recommended"
                },
                {
                    "name": "Gli1",
                    "type": "synonym"
                },
                {
                    "name": "Gli",
                    "type": "synonym"
                },
                {
                    "name": "Zfp-5",
                    "type": "synonym"
                },
                {
                    "name": "Zfp5",
                    "type": "synonym"
                }
            ],
            "record_id": "P47806-1",
            "evidence": [
                {
                    "id": "0060987",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060987"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08151-1",
            "uniprot_ac": "P08151",
            "uniprot_id": "GLI1_HUMAN",
            "refseq_ac": "NP_001153517",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription activator GLI1",
                    "type": "recommended"
                },
                {
                    "name": "GLI-Kruppel family member GLI1",
                    "type": "synonym"
                },
                {
                    "name": "Glioma-associated oncogene",
                    "type": "synonym"
                },
                {
                    "name": "Oncogene GLI",
                    "type": "synonym"
                },
                {
                    "name": "glioma-associated oncogene 1",
                    "type": "synonym"
                },
                {
                    "name": "glioma-associated oncogene homolog 1 (zinc finger protein)",
                    "type": "synonym"
                },
                {
                    "name": "oncogene GLI",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein GLI1 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GLI1",
                    "type": "recommended"
                },
                {
                    "name": "GLI1",
                    "type": "synonym"
                },
                {
                    "name": "GLI",
                    "type": "synonym"
                },
                {
                    "name": "PAPA8",
                    "type": "synonym"
                },
                {
                    "name": "PPD1",
                    "type": "synonym"
                }
            ],
            "record_id": "P08151-1",
            "evidence": [
                {
                    "id": "174400",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/174400"
                },
                {
                    "id": "0060987",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060987"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V6X8-1",
            "uniprot_ac": "G3V6X8",
            "uniprot_id": "G3V6X8_RAT",
            "refseq_ac": "NP_001178839",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "GLI family zinc finger 1",
                    "type": "synonym"
                },
                {
                    "name": "GLI-Kruppel family member GLI1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein GLI1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gli1",
                    "type": "recommended"
                },
                {
                    "name": "Gli1",
                    "type": "synonym"
                },
                {
                    "name": "Gli",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V6X8-1",
            "evidence": [
                {
                    "id": "0060987",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060987"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19538-1",
            "uniprot_ac": "P19538",
            "uniprot_id": "CI_DROME",
            "refseq_ac": "NP_524617",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcriptional activator cubitus interruptus",
                    "type": "recommended"
                },
                {
                    "name": "CG2125-PA",
                    "type": "synonym"
                },
                {
                    "name": "Transcriptional activator ci",
                    "type": "synonym"
                },
                {
                    "name": "cell",
                    "type": "synonym"
                },
                {
                    "name": "ci C-terminally truncated form",
                    "type": "synonym"
                },
                {
                    "name": "ci form of 155 kDa",
                    "type": "synonym"
                },
                {
                    "name": "ci form of 75 kDa",
                    "type": "synonym"
                },
                {
                    "name": "ci full-length protein",
                    "type": "synonym"
                },
                {
                    "name": "ci-155",
                    "type": "synonym"
                },
                {
                    "name": "ci-75",
                    "type": "synonym"
                },
                {
                    "name": "ci-PA",
                    "type": "synonym"
                },
                {
                    "name": "ciFL",
                    "type": "synonym"
                },
                {
                    "name": "cubitis interruptus",
                    "type": "synonym"
                },
                {
                    "name": "cubitus interruptus, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "cubitus interruptus",
                    "type": "synonym"
                },
                {
                    "name": "cubitus interuptus",
                    "type": "synonym"
                },
                {
                    "name": "cubitus-interruptus-Dominant",
                    "type": "synonym"
                },
                {
                    "name": "cubitus",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ci",
                    "type": "recommended"
                },
                {
                    "name": "CG2125",
                    "type": "synonym"
                },
                {
                    "name": "CID",
                    "type": "synonym"
                },
                {
                    "name": "CI",
                    "type": "synonym"
                },
                {
                    "name": "Ce",
                    "type": "synonym"
                },
                {
                    "name": "Ci/GLI",
                    "type": "synonym"
                },
                {
                    "name": "Ci/Gli",
                    "type": "synonym"
                },
                {
                    "name": "Ci155",
                    "type": "synonym"
                },
                {
                    "name": "CiD",
                    "type": "synonym"
                },
                {
                    "name": "Ci[D]",
                    "type": "synonym"
                },
                {
                    "name": "Ci",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2125",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2125",
                    "type": "synonym"
                },
                {
                    "name": "GLI",
                    "type": "synonym"
                },
                {
                    "name": "Gli",
                    "type": "synonym"
                },
                {
                    "name": "Siah",
                    "type": "synonym"
                },
                {
                    "name": "ci-D",
                    "type": "synonym"
                },
                {
                    "name": "ci155",
                    "type": "synonym"
                },
                {
                    "name": "ciA",
                    "type": "synonym"
                },
                {
                    "name": "ciD",
                    "type": "synonym"
                },
                {
                    "name": "ciR",
                    "type": "synonym"
                },
                {
                    "name": "ci[D]",
                    "type": "synonym"
                },
                {
                    "name": "ci",
                    "type": "synonym"
                },
                {
                    "name": "d Ci",
                    "type": "synonym"
                },
                {
                    "name": "l(4)102ABc",
                    "type": "synonym"
                },
                {
                    "name": "l(4)13",
                    "type": "synonym"
                },
                {
                    "name": "l(4)17",
                    "type": "synonym"
                }
            ],
            "record_id": "P19538-1",
            "evidence": [
                {
                    "id": "0060987",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060987"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060987"
}