{
    "disease_id": "DOID:0110872",
    "recommended_name": {
        "id": "DOID:0110872",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110872",
        "name": "holoprosencephaly 2",
        "description": "A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21."
    },
    "synonyms": [
        {
            "id": "DOID:0110872",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110872",
            "name": "HPE2",
            "description": ""
        },
        {
            "id": "MONDO:0007999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007999",
            "name": "holoprosencephaly 2",
            "description": "A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene."
        },
        {
            "id": "MONDO:0007999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007999",
            "name": "HPE2",
            "description": ""
        },
        {
            "id": "MONDO:0007999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007999",
            "name": "SIX3 holoprosencephaly",
            "description": ""
        },
        {
            "id": "MONDO:0007999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007999",
            "name": "holoprosencephaly 2",
            "description": ""
        },
        {
            "id": "MONDO:0007999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007999",
            "name": "holoprosencephaly caused by mutation in SIX3",
            "description": ""
        },
        {
            "id": "MONDO:0007999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007999",
            "name": "holoprosencephaly type 2",
            "description": ""
        },
        {
            "id": "MIM:157170",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/157170",
            "name": "Holoprosencephaly 2",
            "description": "Holoprosencephaly 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110872"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110872",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110872",
            "categories": []
        },
        {
            "id": "MONDO:0007999",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007999",
            "categories": []
        },
        {
            "id": "MIM:157170",
            "database": "MIM",
            "url": "https://www.omim.org/entry/157170",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q62233-1",
            "uniprot_ac": "Q62233",
            "uniprot_id": "SIX3_MOUSE",
            "refseq_ac": "NP_035511",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein SIX3",
                    "type": "recommended"
                },
                {
                    "name": "Sine oculis homeobox homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein SIX3",
                    "type": "synonym"
                },
                {
                    "name": "sine oculis homeobox homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "sine oculis-related homeobox 3 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Six3",
                    "type": "recommended"
                },
                {
                    "name": "E130112M24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Six3alpha",
                    "type": "synonym"
                },
                {
                    "name": "Six3a",
                    "type": "synonym"
                },
                {
                    "name": "Six3beta",
                    "type": "synonym"
                },
                {
                    "name": "Six3b",
                    "type": "synonym"
                },
                {
                    "name": "Six3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62233-1",
            "evidence": [
                {
                    "id": "0110872",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110872"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95343-1",
            "uniprot_ac": "O95343",
            "uniprot_id": "SIX3_HUMAN",
            "refseq_ac": "NP_005404",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein SIX3",
                    "type": "recommended"
                },
                {
                    "name": "Sine oculis homeobox homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein SIX3",
                    "type": "synonym"
                },
                {
                    "name": "sine oculis homeobox homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "sine oculis homeobox-like protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SIX3",
                    "type": "recommended"
                },
                {
                    "name": "HPE2",
                    "type": "synonym"
                },
                {
                    "name": "SIX3",
                    "type": "synonym"
                }
            ],
            "record_id": "O95343-1",
            "evidence": [
                {
                    "id": "157170",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/157170"
                },
                {
                    "id": "0110872",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110872"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LYU8-1",
            "uniprot_ac": "A0ABK0LYU8",
            "uniprot_id": "A0ABK0LYU8_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": "SIX homeobox 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Six3",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LYU8-1",
            "evidence": [
                {
                    "id": "0110872",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110872"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q95RW8-1",
            "uniprot_ac": "Q95RW8",
            "uniprot_id": "OPTIX_DROME",
            "refseq_ac": "NP_524695",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Optix",
                    "type": "recommended"
                },
                {
                    "name": "CG18455-PA",
                    "type": "synonym"
                },
                {
                    "name": "D-Six3",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein SIX3",
                    "type": "synonym"
                },
                {
                    "name": "Optix-PA",
                    "type": "synonym"
                },
                {
                    "name": "optix, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "optix",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Optix",
                    "type": "recommended"
                },
                {
                    "name": "CG18455",
                    "type": "synonym"
                },
                {
                    "name": "D-Six3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18455",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18455",
                    "type": "synonym"
                },
                {
                    "name": "Dsix3",
                    "type": "synonym"
                },
                {
                    "name": "OPTIX",
                    "type": "synonym"
                },
                {
                    "name": "Optix",
                    "type": "synonym"
                },
                {
                    "name": "Six3",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0153538.79",
                    "type": "synonym"
                },
                {
                    "name": "optix",
                    "type": "synonym"
                },
                {
                    "name": "opt",
                    "type": "synonym"
                },
                {
                    "name": "opx",
                    "type": "synonym"
                },
                {
                    "name": "six3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q95RW8-1",
            "evidence": [
                {
                    "id": "0110872",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110872"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110872"
}