{
    "disease_id": "DOID:0080328",
    "recommended_name": {
        "id": "DOID:0080328",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080328",
        "name": "Culler-Jones syndrome",
        "description": "A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has_material_basis_in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline facial defects and developmental delay can also be seen. The condition shows incomplete penetrance and high variable expressivity."
    },
    "synonyms": [
        {
            "id": "MONDO:0014369",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014369",
            "name": "postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome",
            "description": "Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination."
        },
        {
            "id": "MONDO:0014369",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014369",
            "name": "CJS",
            "description": ""
        },
        {
            "id": "MONDO:0014369",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014369",
            "name": "Culler-Jones syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014369",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014369",
            "name": "Pallister-Hall syndrome 2",
            "description": ""
        },
        {
            "id": "MIM:615849",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615849",
            "name": "Culler-Jones syndrome",
            "description": "Culler-Jones syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080328"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080328",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080328",
            "categories": []
        },
        {
            "id": "MONDO:0014369",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014369",
            "categories": []
        },
        {
            "id": "MIM:615849",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615849",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q0VGT2-1",
            "uniprot_ac": "Q0VGT2",
            "uniprot_id": "GLI2_MOUSE",
            "refseq_ac": "NP_001074594",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription activator GLI2",
                    "type": "recommended"
                },
                {
                    "name": "Tax helper protein",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein GLI2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gli2",
                    "type": "recommended"
                },
                {
                    "name": "Gli2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0VGT2-1",
            "evidence": [
                {
                    "id": "0080328",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080328"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10070-5",
            "uniprot_ac": "P10070",
            "uniprot_id": "GLI2_HUMAN",
            "refseq_ac": "NP_005261",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription activator GLI2",
                    "type": "recommended"
                },
                {
                    "name": "GLI family zinc finger protein 2",
                    "type": "synonym"
                },
                {
                    "name": "GLI-Kruppel family member GLI2",
                    "type": "synonym"
                },
                {
                    "name": "Tax helper protein",
                    "type": "synonym"
                },
                {
                    "name": "glioma-associated oncogene family zinc finger 2",
                    "type": "synonym"
                },
                {
                    "name": "oncogene GLI2",
                    "type": "synonym"
                },
                {
                    "name": "tax helper protein 1",
                    "type": "synonym"
                },
                {
                    "name": "tax helper protein 2",
                    "type": "synonym"
                },
                {
                    "name": "tax-responsive element-2 holding protein",
                    "type": "synonym"
                },
                {
                    "name": "tax-responsive element-25-bp sequence binding protein",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein GLI2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein GLI2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GLI2",
                    "type": "recommended"
                },
                {
                    "name": "CJS",
                    "type": "synonym"
                },
                {
                    "name": "GLI2",
                    "type": "synonym"
                },
                {
                    "name": "HPE9",
                    "type": "synonym"
                },
                {
                    "name": "PHS2",
                    "type": "synonym"
                },
                {
                    "name": "THP1",
                    "type": "synonym"
                },
                {
                    "name": "THP2",
                    "type": "synonym"
                },
                {
                    "name": "THP",
                    "type": "synonym"
                }
            ],
            "record_id": "P10070-5",
            "evidence": [
                {
                    "id": "615849",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615849"
                },
                {
                    "id": "0080328",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080328"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M2B7-1",
            "uniprot_ac": "F1M2B7",
            "uniprot_id": "F1M2B7_RAT",
            "refseq_ac": "NP_001100639",
            "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 2",
                    "type": "synonym"
                },
                {
                    "name": "GLI-Kruppel family member GLI2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein GLI2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gli2",
                    "type": "recommended"
                },
                {
                    "name": "Gli2",
                    "type": "synonym"
                }
            ],
            "record_id": "F1M2B7-1",
            "evidence": [
                {
                    "id": "0080328",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080328"
                }
            ]
        },
        {
            "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": "0080328",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080328"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080328"
}