{
    "disease_id": "DOID:0110878",
    "recommended_name": {
        "id": "DOID:0110878",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110878",
        "name": "holoprosencephaly 5",
        "description": "A holoprosencephaly that has_material_basis_in heterozygous mutation in the ZIC2 gene on chromosome 13q32."
    },
    "synonyms": [
        {
            "id": "DOID:0110878",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110878",
            "name": "HPE5",
            "description": ""
        },
        {
            "id": "MONDO:0012322",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012322",
            "name": "holoprosencephaly 5",
            "description": "Holoprosencephaly associated with mutations in the ZIC2 gene."
        },
        {
            "id": "MONDO:0012322",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012322",
            "name": "HPE5",
            "description": ""
        },
        {
            "id": "MONDO:0012322",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012322",
            "name": "ZIC2 holoprosencephaly",
            "description": ""
        },
        {
            "id": "MONDO:0012322",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012322",
            "name": "holoprosencephaly 5",
            "description": ""
        },
        {
            "id": "MONDO:0012322",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012322",
            "name": "holoprosencephaly caused by mutation in ZIC2",
            "description": ""
        },
        {
            "id": "MONDO:0012322",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012322",
            "name": "holoprosencephaly type 5",
            "description": ""
        },
        {
            "id": "MIM:609637",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609637",
            "name": "Holoprosencephaly 5",
            "description": "Holoprosencephaly 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110878"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110878",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110878",
            "categories": []
        },
        {
            "id": "MONDO:0012322",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012322",
            "categories": []
        },
        {
            "id": "MIM:609637",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609637",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q62520-1",
            "uniprot_ac": "Q62520",
            "uniprot_id": "ZIC2_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein ZIC 2",
                    "type": "recommended"
                },
                {
                    "name": "Zinc finger protein of the cerebellum 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zic2",
                    "type": "recommended"
                }
            ],
            "record_id": "Q62520-1",
            "evidence": [
                {
                    "id": "0110878",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110878"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95409-1",
            "uniprot_ac": "O95409",
            "uniprot_id": "ZIC2_HUMAN",
            "refseq_ac": "NP_009060",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein ZIC 2",
                    "type": "recommended"
                },
                {
                    "name": "Zic family member 2 (odd-paired homolog, Drosophila)",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein of the cerebellum 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein ZIC 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ZIC2",
                    "type": "recommended"
                },
                {
                    "name": "HPE5",
                    "type": "synonym"
                },
                {
                    "name": "ZIC2",
                    "type": "synonym"
                }
            ],
            "record_id": "O95409-1",
            "evidence": [
                {
                    "id": "609637",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609637"
                },
                {
                    "id": "0110878",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110878"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0M7V7-1",
            "uniprot_ac": "A0ABK0M7V7",
            "uniprot_id": "A0ABK0M7V7_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zic family member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zic2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0M7V7-1",
            "evidence": [
                {
                    "id": "0110878",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110878"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39768-1",
            "uniprot_ac": "P39768",
            "uniprot_id": "OPA_DROME",
            "refseq_ac": "NP_524228",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pair-rule protein odd-paired",
                    "type": "recommended"
                },
                {
                    "name": "CG1133-PA",
                    "type": "synonym"
                },
                {
                    "name": "GLI-Kr zinc finger pair-rule protein",
                    "type": "synonym"
                },
                {
                    "name": "Odd paired",
                    "type": "synonym"
                },
                {
                    "name": "Odd-paired",
                    "type": "synonym"
                },
                {
                    "name": "odd paired, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "opa-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "opa",
                    "type": "recommended"
                },
                {
                    "name": "CG1133",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1133",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1133",
                    "type": "synonym"
                },
                {
                    "name": "Opa",
                    "type": "synonym"
                },
                {
                    "name": "opa",
                    "type": "synonym"
                }
            ],
            "record_id": "P39768-1",
            "evidence": [
                {
                    "id": "0110878",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110878"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110878"
}