{
    "disease_id": "DOID:0081266",
    "recommended_name": {
        "id": "DOID:0081266",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081266",
        "name": "complex cortical dysplasia with other brain malformations 15",
        "description": "A cortical dysplasia with other brain malformation that is characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP2 gene on chromosome 10q26."
    },
    "synonyms": [
        {
            "id": "DOID:0081266",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081266",
            "name": "pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures",
            "description": ""
        },
        {
            "id": "DOID:0081266",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081266",
            "name": "PAMDDFS",
            "description": ""
        },
        {
            "id": "DOID:0081266",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081266",
            "name": "CDCBM15",
            "description": ""
        },
        {
            "id": "MONDO:0032893",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032893",
            "name": "pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures",
            "description": ""
        },
        {
            "id": "MONDO:0032893",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032893",
            "name": "PAMDDFS",
            "description": ""
        },
        {
            "id": "MIM:618737",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618737",
            "name": "Cortical dysplasia, complex, with other brain malformations 15",
            "description": "Cortical dysplasia, complex, with other brain malformations 15"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081266"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081266",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081266",
            "categories": []
        },
        {
            "id": "MONDO:0032893",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032893",
            "categories": []
        },
        {
            "id": "MIM:618737",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618737",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q921G8-1",
            "uniprot_ac": "Q921G8",
            "uniprot_id": "GCP2_MOUSE",
            "refseq_ac": "NP_001272936",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gamma-tubulin complex component 2",
                    "type": "recommended"
                },
                {
                    "name": "GCP-2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tubulin complex component 2 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tubulin complex component 2",
                    "type": "synonym"
                },
                {
                    "name": "tubulin, gamma complex associated protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tubgcp2",
                    "type": "recommended"
                },
                {
                    "name": "1700022B05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gcp2",
                    "type": "synonym"
                },
                {
                    "name": "Tubgcp2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q921G8-1",
            "evidence": [
                {
                    "id": "0081266",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081266"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BSJ2-1",
            "uniprot_ac": "Q9BSJ2",
            "uniprot_id": "GCP2_HUMAN",
            "refseq_ac": "NP_001243546",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "GCP-2",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-ring complex protein 103 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Spindle pole body protein Spc97 homolog",
                    "type": "synonym"
                },
                {
                    "name": "gamma-ring complex protein 103 kDa",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tubulin complex component 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tubulin complex component 2",
                    "type": "synonym"
                },
                {
                    "name": "h103p",
                    "type": "synonym"
                },
                {
                    "name": "hGCP2",
                    "type": "synonym"
                },
                {
                    "name": "hGrip103",
                    "type": "synonym"
                },
                {
                    "name": "hSpc97",
                    "type": "synonym"
                },
                {
                    "name": "spindle pole body protein Spc97 homolog",
                    "type": "synonym"
                },
                {
                    "name": "tubulin gamma complex associated protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TUBGCP2",
                    "type": "recommended"
                },
                {
                    "name": "ALP4",
                    "type": "synonym"
                },
                {
                    "name": "GCP-2",
                    "type": "synonym"
                },
                {
                    "name": "GCP2",
                    "type": "synonym"
                },
                {
                    "name": "Grip103",
                    "type": "synonym"
                },
                {
                    "name": "PAMDDFS",
                    "type": "synonym"
                },
                {
                    "name": "SPBC97",
                    "type": "synonym"
                },
                {
                    "name": "SPC97",
                    "type": "synonym"
                },
                {
                    "name": "Spc97p",
                    "type": "synonym"
                },
                {
                    "name": "TUBGCP2",
                    "type": "synonym"
                },
                {
                    "name": "h103p",
                    "type": "synonym"
                },
                {
                    "name": "hGCP2",
                    "type": "synonym"
                },
                {
                    "name": "hSpc97",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BSJ2-1",
            "evidence": [
                {
                    "id": "618737",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618737"
                },
                {
                    "id": "0081266",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081266"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38863-1",
            "uniprot_ac": "P38863",
            "uniprot_id": "SPC97_YEAST",
            "refseq_ac": "NP_012042",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spindle pole body component SPC97",
                    "type": "recommended"
                },
                {
                    "name": "gamma-tubulin-complex subunit SPC97",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPC97",
                    "type": "recommended"
                },
                {
                    "name": "SPC97",
                    "type": "synonym"
                }
            ],
            "record_id": "P38863-1",
            "evidence": [
                {
                    "id": "0081266",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081266"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9XYP7-1",
            "uniprot_ac": "Q9XYP7",
            "uniprot_id": "GCP2_DROME",
            "refseq_ac": "NP_001285444",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gamma-tubulin complex component 2 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG3917-PF",
                    "type": "synonym"
                },
                {
                    "name": "DGrip84",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-ring complex protein 84 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-tubulin ring protein 84, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "Grip84-PF",
                    "type": "synonym"
                },
                {
                    "name": "d84p",
                    "type": "synonym"
                },
                {
                    "name": "dGrip84",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tubulin ring protein 84",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grip84",
                    "type": "recommended"
                },
                {
                    "name": "CG3917",
                    "type": "synonym"
                },
                {
                    "name": "DGrip84",
                    "type": "synonym"
                },
                {
                    "name": "Dgrip84",
                    "type": "synonym"
                },
                {
                    "name": "Dgrips84",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3917",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3917",
                    "type": "synonym"
                },
                {
                    "name": "GCP2",
                    "type": "synonym"
                },
                {
                    "name": "Grip84",
                    "type": "synonym"
                },
                {
                    "name": "grip84",
                    "type": "synonym"
                },
                {
                    "name": "l(1)[[t]]PG36",
                    "type": "synonym"
                },
                {
                    "name": "l(1)[[t]]PG66",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9XYP7-1",
            "evidence": [
                {
                    "id": "0081266",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081266"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VS91-1",
            "uniprot_ac": "Q9VS91",
            "uniprot_id": "Q9VS91_DROME",
            "refseq_ac": "NP_648139",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gamma-tubulin complex component",
                    "type": "recommended"
                },
                {
                    "name": "CG7716-PA",
                    "type": "synonym"
                },
                {
                    "name": "t-Grip84-PA",
                    "type": "synonym"
                },
                {
                    "name": "testis-specific gamma-tubulin ring protein 84",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "t-Grip84",
                    "type": "recommended"
                },
                {
                    "name": "CG7716",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7716",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7716",
                    "type": "synonym"
                },
                {
                    "name": "t-Grip84",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VS91-1",
            "evidence": [
                {
                    "id": "0081266",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081266"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081266"
}