{
    "disease_id": "DOID:0060985",
    "recommended_name": {
        "id": "DOID:0060985",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060985",
        "name": "preaxial polydactyly type IV",
        "description": "A polydactyly that has_material_basis_in heterozygous mutation in the GLI3 gene on chromosome 7p14."
    },
    "synonyms": [
        {
            "id": "DOID:0060985",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060985",
            "name": "crossed polydactyly type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008272",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008272",
            "name": "polysyndactyly 4",
            "description": "Preaxial polydactyly characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx, occasional syndactyly of various degrees of third-and-fourth fingers, and duplication of part or all of the first or second toes and syndactyly."
        },
        {
            "id": "MONDO:0008272",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008272",
            "name": "PPD4",
            "description": ""
        },
        {
            "id": "MONDO:0008272",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008272",
            "name": "polydactyly, preaxial type 4",
            "description": ""
        },
        {
            "id": "MONDO:0008272",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008272",
            "name": "polydactyly, preaxial, type IV",
            "description": ""
        },
        {
            "id": "MONDO:0008272",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008272",
            "name": "preaxial polydactyly type 4",
            "description": ""
        },
        {
            "id": "MONDO:0008272",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008272",
            "name": "crossed polydactyly type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008272",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008272",
            "name": "polydactyly preaxial 4",
            "description": ""
        },
        {
            "id": "MONDO:0008272",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008272",
            "name": "polysyndactyly uncomplicated",
            "description": ""
        },
        {
            "id": "MONDO:0008272",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008272",
            "name": "preaxial polydactyly 4",
            "description": ""
        },
        {
            "id": "MIM:174700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/174700",
            "name": "Polydactyly, preaxial 4",
            "description": "Polydactyly, preaxial 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060985"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060985",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060985",
            "categories": []
        },
        {
            "id": "MONDO:0008272",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008272",
            "categories": []
        },
        {
            "id": "MIM:174700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/174700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61602-1",
            "uniprot_ac": "Q61602",
            "uniprot_id": "GLI3_MOUSE",
            "refseq_ac": "NP_032156",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription activator GLI3",
                    "type": "recommended"
                },
                {
                    "name": "GLI3 C-terminally truncated form",
                    "type": "synonym"
                },
                {
                    "name": "GLI3 form of 190 kDa",
                    "type": "synonym"
                },
                {
                    "name": "GLI3 form of 83 kDa",
                    "type": "synonym"
                },
                {
                    "name": "GLI3 full length protein",
                    "type": "synonym"
                },
                {
                    "name": "GLI3 full-length protein",
                    "type": "synonym"
                },
                {
                    "name": "GLI3-190",
                    "type": "synonym"
                },
                {
                    "name": "GLI3-83",
                    "type": "synonym"
                },
                {
                    "name": "GLI3FL",
                    "type": "synonym"
                },
                {
                    "name": "anterior digit pattern deformity",
                    "type": "synonym"
                },
                {
                    "name": "brachyphalangy",
                    "type": "synonym"
                },
                {
                    "name": "extra toes",
                    "type": "synonym"
                },
                {
                    "name": "polydactyly Nagoya",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional activator GLI3",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein GLI3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gli3",
                    "type": "recommended"
                },
                {
                    "name": "Bph",
                    "type": "synonym"
                },
                {
                    "name": "GLI3-190",
                    "type": "synonym"
                },
                {
                    "name": "GLI3FL",
                    "type": "synonym"
                },
                {
                    "name": "Gli3",
                    "type": "synonym"
                },
                {
                    "name": "Pdn",
                    "type": "synonym"
                },
                {
                    "name": "Xt",
                    "type": "synonym"
                },
                {
                    "name": "add",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61602-1",
            "evidence": [
                {
                    "id": "0060985",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060985"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10071-1",
            "uniprot_ac": "P10071",
            "uniprot_id": "GLI3_HUMAN",
            "refseq_ac": "NP_000159",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription activator GLI3",
                    "type": "recommended"
                },
                {
                    "name": "GLI-Kruppel family member GLI3",
                    "type": "synonym"
                },
                {
                    "name": "GLI3 C-terminally truncated form",
                    "type": "synonym"
                },
                {
                    "name": "GLI3 form of 190 kDa",
                    "type": "synonym"
                },
                {
                    "name": "GLI3 form of 83 kDa",
                    "type": "synonym"
                },
                {
                    "name": "GLI3 full-length protein",
                    "type": "synonym"
                },
                {
                    "name": "GLI3-190",
                    "type": "synonym"
                },
                {
                    "name": "GLI3-83",
                    "type": "synonym"
                },
                {
                    "name": "GLI3FL",
                    "type": "synonym"
                },
                {
                    "name": "glioma-associated oncogene family zinc finger 3",
                    "type": "synonym"
                },
                {
                    "name": "oncogene GLI3",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional activator GLI3",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein GLI3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GLI3",
                    "type": "recommended"
                },
                {
                    "name": "ACLS",
                    "type": "synonym"
                },
                {
                    "name": "GCPS",
                    "type": "synonym"
                },
                {
                    "name": "GLI3-190",
                    "type": "synonym"
                },
                {
                    "name": "GLI3FL",
                    "type": "synonym"
                },
                {
                    "name": "GLI3",
                    "type": "synonym"
                },
                {
                    "name": "PAP-A",
                    "type": "synonym"
                },
                {
                    "name": "PAPA1",
                    "type": "synonym"
                },
                {
                    "name": "PAPA",
                    "type": "synonym"
                },
                {
                    "name": "PAPB",
                    "type": "synonym"
                },
                {
                    "name": "PHS",
                    "type": "synonym"
                },
                {
                    "name": "PPDIV",
                    "type": "synonym"
                }
            ],
            "record_id": "P10071-1",
            "evidence": [
                {
                    "id": "174700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/174700"
                },
                {
                    "id": "0060985",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060985"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M9H1-1",
            "uniprot_ac": "F1M9H1",
            "uniprot_id": "F1M9H1_RAT",
            "refseq_ac": "NP_536330",
            "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 3",
                    "type": "synonym"
                },
                {
                    "name": "GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome)",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional activator GLI3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gli3",
                    "type": "recommended"
                },
                {
                    "name": "Gli3",
                    "type": "synonym"
                }
            ],
            "record_id": "F1M9H1-1",
            "evidence": [
                {
                    "id": "0060985",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060985"
                }
            ]
        },
        {
            "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": "0060985",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060985"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060985"
}