{
    "disease_id": "DOID:0110873",
    "recommended_name": {
        "id": "DOID:0110873",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110873",
        "name": "holoprosencephaly 9",
        "description": "A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14."
    },
    "synonyms": [
        {
            "id": "DOID:0110873",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110873",
            "name": "pituitary anomalies with holoprosencephaly-like features",
            "description": ""
        },
        {
            "id": "DOID:0110873",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110873",
            "name": "HPE9",
            "description": ""
        },
        {
            "id": "DOID:0110873",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110873",
            "name": "holoprosencephaly with microphthalmia and first branchial arch anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0012563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012563",
            "name": "holoprosencephaly 9",
            "description": "Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene."
        },
        {
            "id": "MONDO:0012563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012563",
            "name": "GLI2 holoprosencephaly",
            "description": ""
        },
        {
            "id": "MONDO:0012563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012563",
            "name": "HPE9",
            "description": ""
        },
        {
            "id": "MONDO:0012563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012563",
            "name": "holoprosencephaly 9",
            "description": ""
        },
        {
            "id": "MONDO:0012563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012563",
            "name": "holoprosencephaly caused by mutation in GLI2",
            "description": ""
        },
        {
            "id": "MONDO:0012563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012563",
            "name": "holoprosencephaly type 9",
            "description": ""
        },
        {
            "id": "MONDO:0012563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012563",
            "name": "holoprosencephaly with microphthalmia and first branchial arch anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0012563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012563",
            "name": "pituitary anomalies with holoprosencephaly-like features",
            "description": ""
        },
        {
            "id": "MIM:610829",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610829",
            "name": "Holoprosencephaly 9",
            "description": "Holoprosencephaly 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110873"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110873",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110873",
            "categories": []
        },
        {
            "id": "MONDO:0012563",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012563",
            "categories": []
        },
        {
            "id": "MIM:610829",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610829",
            "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": "0110873",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110873"
                }
            ]
        },
        {
            "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": "610829",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610829"
                },
                {
                    "id": "0110873",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110873"
                }
            ]
        },
        {
            "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": "0110873",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110873"
                }
            ]
        },
        {
            "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": "0110873",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110873"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110873"
}