{
    "disease_id": "DOID:0110880",
    "recommended_name": {
        "id": "DOID:0110880",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110880",
        "name": "holoprosencephaly 4",
        "description": "A holoprosencephaly that has_material_basis_in heterozygous mutation in the TGIF gene on chromosome 18p11."
    },
    "synonyms": [
        {
            "id": "DOID:0110880",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110880",
            "name": "HPE4",
            "description": ""
        },
        {
            "id": "MONDO:0007734",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007734",
            "name": "holoprosencephaly 4",
            "description": "A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis."
        },
        {
            "id": "MONDO:0007734",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007734",
            "name": "HPE4",
            "description": ""
        },
        {
            "id": "MONDO:0007734",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007734",
            "name": "TGIF1 holoprosencephaly",
            "description": ""
        },
        {
            "id": "MONDO:0007734",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007734",
            "name": "holoprosencephaly 4",
            "description": ""
        },
        {
            "id": "MONDO:0007734",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007734",
            "name": "holoprosencephaly caused by mutation in TGIF1",
            "description": ""
        },
        {
            "id": "MONDO:0007734",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007734",
            "name": "holoprosencephaly type 4",
            "description": ""
        },
        {
            "id": "MIM:142946",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/142946",
            "name": "Holoprosencephaly 4",
            "description": "Holoprosencephaly 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110880"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110880",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110880",
            "categories": []
        },
        {
            "id": "MONDO:0007734",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007734",
            "categories": []
        },
        {
            "id": "MIM:142946",
            "database": "MIM",
            "url": "https://www.omim.org/entry/142946",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P70284-1",
            "uniprot_ac": "P70284",
            "uniprot_id": "TGIF1_MOUSE",
            "refseq_ac": "NP_001157546",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein TGIF1",
                    "type": "recommended"
                },
                {
                    "name": "5'-TG-3'-interacting factor 1",
                    "type": "synonym"
                },
                {
                    "name": "TALE family homeobox",
                    "type": "synonym"
                },
                {
                    "name": "TG interacting factor 1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein TGIF1 isoform c",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein TGIF1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tgif1",
                    "type": "recommended"
                },
                {
                    "name": "Tgif1",
                    "type": "synonym"
                },
                {
                    "name": "Tgif",
                    "type": "synonym"
                }
            ],
            "record_id": "P70284-1",
            "evidence": [
                {
                    "id": "0110880",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110880"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15583-1",
            "uniprot_ac": "Q15583",
            "uniprot_id": "TGIF1_HUMAN",
            "refseq_ac": "NP_001265611",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein TGIF1",
                    "type": "recommended"
                },
                {
                    "name": "5'-TG-3'-interacting factor 1",
                    "type": "synonym"
                },
                {
                    "name": "TALE homeobox TG-interacting factor",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein TGIF1 isoform e",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein TGIF1",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor-beta-induced factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TGIF1",
                    "type": "recommended"
                },
                {
                    "name": "HPE4",
                    "type": "synonym"
                },
                {
                    "name": "TGIF1",
                    "type": "synonym"
                },
                {
                    "name": "TGIF",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15583-1",
            "evidence": [
                {
                    "id": "142946",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/142946"
                },
                {
                    "id": "0110880",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110880"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZTL5-1",
            "uniprot_ac": "A0A8I5ZTL5",
            "uniprot_id": "A0A8I5ZTL5_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "TGFB-induced factor homeobox 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tgif1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5ZTL5-1",
            "evidence": [
                {
                    "id": "0110880",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110880"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z913-1",
            "uniprot_ac": "A1Z913",
            "uniprot_id": "A1Z913_DROME",
            "refseq_ac": "NP_788337",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG8821-PB",
                    "type": "synonym"
                },
                {
                    "name": "Vismay, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "achi/vis",
                    "type": "synonym"
                },
                {
                    "name": "vis-PB",
                    "type": "synonym"
                },
                {
                    "name": "vismay, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "vismay",
                    "type": "synonym"
                },
                {
                    "name": "zuker-aly-like a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "vis",
                    "type": "recommended"
                },
                {
                    "name": "CG8821",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8821",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8821",
                    "type": "synonym"
                },
                {
                    "name": "TGIFa",
                    "type": "synonym"
                },
                {
                    "name": "achi/vis",
                    "type": "synonym"
                },
                {
                    "name": "dTGIFa",
                    "type": "synonym"
                },
                {
                    "name": "vis",
                    "type": "synonym"
                },
                {
                    "name": "zaa",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z913-1",
            "evidence": [
                {
                    "id": "0110880",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110880"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z916-1",
            "uniprot_ac": "A1Z916",
            "uniprot_id": "A1Z916_DROME",
            "refseq_ac": "NP_001286352",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Achintya, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Achintya, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "CG8819-PD",
                    "type": "synonym"
                },
                {
                    "name": "achi-PD",
                    "type": "synonym"
                },
                {
                    "name": "achintya, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "achintya",
                    "type": "synonym"
                },
                {
                    "name": "zuker-aly-like a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "achi",
                    "type": "recommended"
                },
                {
                    "name": "Achi",
                    "type": "synonym"
                },
                {
                    "name": "CG8819",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8819",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8819",
                    "type": "synonym"
                },
                {
                    "name": "TGIF",
                    "type": "synonym"
                },
                {
                    "name": "achi/vis",
                    "type": "synonym"
                },
                {
                    "name": "achi",
                    "type": "synonym"
                },
                {
                    "name": "ach",
                    "type": "synonym"
                },
                {
                    "name": "dTGIFa",
                    "type": "synonym"
                },
                {
                    "name": "dTGIFb",
                    "type": "synonym"
                },
                {
                    "name": "dTGIF",
                    "type": "synonym"
                },
                {
                    "name": "vis",
                    "type": "synonym"
                },
                {
                    "name": "zaa",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z916-1",
            "evidence": [
                {
                    "id": "0110880",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110880"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110880"
}