{
    "disease_id": "DOID:0080105",
    "recommended_name": {
        "id": "DOID:0080105",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080105",
        "name": "microcephaly and chorioretinopathy 1",
        "description": "A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0009624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009624",
            "name": "microcephaly and chorioretinopathy 1",
            "description": "An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy."
        },
        {
            "id": "MONDO:0009624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009624",
            "name": "Pseudotoxoplasmosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009624",
            "name": "TUBGCP6 microcephaly and chorioretinopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009624",
            "name": "autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009624",
            "name": "microcephaly and chorioretinopathy 1",
            "description": ""
        },
        {
            "id": "MONDO:0009624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009624",
            "name": "microcephaly and chorioretinopathy caused by mutation in TUBGCP6",
            "description": ""
        },
        {
            "id": "MONDO:0009624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009624",
            "name": "microcephaly and chorioretinopathy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009624",
            "name": "microcephaly and chorioretinopathy, autosomal recessive, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009624",
            "name": "MCCRP1",
            "description": ""
        },
        {
            "id": "MONDO:0009624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009624",
            "name": "microcephaly and chorioretinopathy, autosomal recessive, 1",
            "description": ""
        },
        {
            "id": "MIM:251270",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/251270",
            "name": "Microcephaly and chorioretinopathy, autosomal recessive, 1",
            "description": "Microcephaly and chorioretinopathy, autosomal recessive, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080105"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080105",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080105",
            "categories": []
        },
        {
            "id": "MONDO:0009624",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009624",
            "categories": []
        },
        {
            "id": "MIM:251270",
            "database": "MIM",
            "url": "https://www.omim.org/entry/251270",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "G5E8P0-1",
            "uniprot_ac": "G5E8P0",
            "uniprot_id": "GCP6_MOUSE",
            "refseq_ac": "NP_001156791",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gamma-tubulin complex component 6",
                    "type": "recommended"
                },
                {
                    "name": "GCP-6",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tubulin complex component 6",
                    "type": "synonym"
                },
                {
                    "name": "tubulin, gamma complex associated protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tubgcp6",
                    "type": "recommended"
                },
                {
                    "name": "D430023H11",
                    "type": "synonym"
                },
                {
                    "name": "GCP-6",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1669",
                    "type": "synonym"
                },
                {
                    "name": "Tubgcp6",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1669",
                    "type": "synonym"
                }
            ],
            "record_id": "G5E8P0-1",
            "evidence": [
                {
                    "id": "0080105",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080105"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96RT7-1",
            "uniprot_ac": "Q96RT7",
            "uniprot_id": "GCP6_HUMAN",
            "refseq_ac": "NP_065194",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gamma-tubulin complex component 6",
                    "type": "recommended"
                },
                {
                    "name": "GCP-6",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tubulin complex component 6",
                    "type": "synonym"
                },
                {
                    "name": "tubulin gamma complex associated protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TUBGCP6",
                    "type": "recommended"
                },
                {
                    "name": "GCP-6",
                    "type": "synonym"
                },
                {
                    "name": "GCP6",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1669",
                    "type": "synonym"
                },
                {
                    "name": "MCCRP1",
                    "type": "synonym"
                },
                {
                    "name": "MCCRP",
                    "type": "synonym"
                },
                {
                    "name": "MCPHCR",
                    "type": "synonym"
                },
                {
                    "name": "TUBGCP6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96RT7-1",
            "evidence": [
                {
                    "id": "251270",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/251270"
                },
                {
                    "id": "0080105",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080105"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A709-1",
            "uniprot_ac": "D4A709",
            "uniprot_id": "D4A709_RAT",
            "refseq_ac": "NP_001102218",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gamma-tubulin complex component 6",
                    "type": "recommended"
                },
                {
                    "name": "gamma-tubulin complex component 6",
                    "type": "synonym"
                },
                {
                    "name": "tubulin, gamma complex associated protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tubgcp6",
                    "type": "recommended"
                },
                {
                    "name": "Tubgcp6",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A709-1",
            "evidence": [
                {
                    "id": "0080105",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080105"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VTS3-1",
            "uniprot_ac": "Q9VTS3",
            "uniprot_id": "Q9VTS3_DROME",
            "refseq_ac": "NP_648537",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5688-PA",
                    "type": "synonym"
                },
                {
                    "name": "DGrip163",
                    "type": "synonym"
                },
                {
                    "name": "Grip163-PA",
                    "type": "synonym"
                },
                {
                    "name": "Grip163",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grip163",
                    "type": "recommended"
                },
                {
                    "name": "CG5688",
                    "type": "synonym"
                },
                {
                    "name": "DGrip163",
                    "type": "synonym"
                },
                {
                    "name": "Dgrip163",
                    "type": "synonym"
                },
                {
                    "name": "Dgrips163",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5688",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5688",
                    "type": "synonym"
                },
                {
                    "name": "GCP6",
                    "type": "synonym"
                },
                {
                    "name": "Grip163",
                    "type": "synonym"
                },
                {
                    "name": "grip163",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VTS3-1",
            "evidence": [
                {
                    "id": "0080105",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080105"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080105"
}