{
    "disease_id": "DOID:0070040",
    "recommended_name": {
        "id": "DOID:0070040",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070040",
        "name": "autosomal dominant intellectual developmental disorder 10",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CACNG2 gene on chromosome 22q12.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070040",
            "name": "MRD10",
            "description": ""
        },
        {
            "id": "DOID:0070040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070040",
            "name": "autosomal dominant mental retardation 10",
            "description": ""
        },
        {
            "id": "DOID:0070040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070040",
            "name": "autosomal dominant non-syndromic intellectual disability 10",
            "description": ""
        },
        {
            "id": "MONDO:0013657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013657",
            "name": "intellectual disability, autosomal dominant 10",
            "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene."
        },
        {
            "id": "MONDO:0013657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013657",
            "name": "CACNG2 autosomal dominant non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0013657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013657",
            "name": "MRD10",
            "description": ""
        },
        {
            "id": "MONDO:0013657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013657",
            "name": "autosomal dominant intellectual disability 10",
            "description": ""
        },
        {
            "id": "MONDO:0013657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013657",
            "name": "autosomal dominant non-syndromic intellectual disability caused by mutation in CACNG2",
            "description": ""
        },
        {
            "id": "MONDO:0013657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013657",
            "name": "intellectual disability, autosomal dominant 10",
            "description": ""
        },
        {
            "id": "MONDO:0013657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013657",
            "name": "intellectual disability, autosomal dominant type 10",
            "description": ""
        },
        {
            "id": "MONDO:0013657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013657",
            "name": "mental retardation, autosomal dominant type 10",
            "description": ""
        },
        {
            "id": "MONDO:0013657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013657",
            "name": "mental retardation, autosomal dominant 10",
            "description": ""
        },
        {
            "id": "MIM:614256",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614256",
            "name": "Intellectual developmental disorder, autosomal dominant 10",
            "description": "Intellectual developmental disorder, autosomal dominant 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070040"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070040",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070040",
            "categories": []
        },
        {
            "id": "MONDO:0013657",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013657",
            "categories": []
        },
        {
            "id": "MIM:614256",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614256",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4INZ4-1",
            "uniprot_ac": "A0A0R4INZ4",
            "uniprot_id": "A0A0R4INZ4_DANRE",
            "refseq_ac": "NP_001186659",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium channel, voltage-dependent, gamma subunit 2b",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel, voltage-dependent, gamma subunit 2b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cacng2b",
                    "type": "recommended"
                },
                {
                    "name": "cacng2b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4INZ4-1",
            "evidence": [
                {
                    "id": "0070040",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070040"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88602-1",
            "uniprot_ac": "O88602",
            "uniprot_id": "CCG2_MOUSE",
            "refseq_ac": "NP_031609",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent calcium channel gamma-2 subunit",
                    "type": "recommended"
                },
                {
                    "name": "Neuronal voltage-gated calcium channel gamma-2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "Stargazin",
                    "type": "synonym"
                },
                {
                    "name": "TARP gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane AMPAR regulatory protein gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "neuronal voltage-gated calcium channel gamma-2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane AMPAR regulatory protein gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent calcium channel gamma-2 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cacng2",
                    "type": "recommended"
                },
                {
                    "name": "B230105C07Rik",
                    "type": "synonym"
                },
                {
                    "name": "B930041E13Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cacng2",
                    "type": "synonym"
                },
                {
                    "name": "Stg",
                    "type": "synonym"
                },
                {
                    "name": "stargazer",
                    "type": "synonym"
                },
                {
                    "name": "stargazin",
                    "type": "synonym"
                },
                {
                    "name": "stg",
                    "type": "synonym"
                },
                {
                    "name": "waggler",
                    "type": "synonym"
                },
                {
                    "name": "wag",
                    "type": "synonym"
                }
            ],
            "record_id": "O88602-1",
            "evidence": [
                {
                    "id": "0070040",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070040"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y698-1",
            "uniprot_ac": "Q9Y698",
            "uniprot_id": "CCG2_HUMAN",
            "refseq_ac": "NP_006069",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent calcium channel gamma-2 subunit",
                    "type": "recommended"
                },
                {
                    "name": "Neuronal voltage-gated calcium channel gamma-2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "TARP gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane AMPAR regulatory protein gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "neuronal voltage-gated calcium channel gamma-2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "stargazin",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane AMPAR regulatory protein gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent calcium channel gamma-2 subunit isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CACNG2",
                    "type": "recommended"
                },
                {
                    "name": "CACNG2",
                    "type": "synonym"
                },
                {
                    "name": "MRD10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y698-1",
            "evidence": [
                {
                    "id": "614256",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614256"
                },
                {
                    "id": "0070040",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070040"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q71RJ2-1",
            "uniprot_ac": "Q71RJ2",
            "uniprot_id": "CCG2_RAT",
            "refseq_ac": "NP_445803",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent calcium channel gamma-2 subunit",
                    "type": "recommended"
                },
                {
                    "name": "Neuronal voltage-gated calcium channel gamma-2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "Stargazin",
                    "type": "synonym"
                },
                {
                    "name": "TARP gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane AMPAR regulatory protein gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel, voltage-dependent, gamma subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "neuronal voltage-gated calcium channel gamma-2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "stargazin",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane AMPAR regulatory protein gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent calcium channel gamma-2 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cacng2",
                    "type": "recommended"
                },
                {
                    "name": "Cacng2",
                    "type": "synonym"
                },
                {
                    "name": "Ipr328",
                    "type": "synonym"
                },
                {
                    "name": "Stg",
                    "type": "synonym"
                }
            ],
            "record_id": "Q71RJ2-1",
            "evidence": [
                {
                    "id": "0070040",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070040"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2MGK8-1",
            "uniprot_ac": "Q2MGK8",
            "uniprot_id": "Q2MGK8_DROME",
            "refseq_ac": "NP_001400987",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG46498-PC",
                    "type": "synonym"
                },
                {
                    "name": "Stargazin-like protein",
                    "type": "synonym"
                },
                {
                    "name": "stargazin-like protein",
                    "type": "synonym"
                },
                {
                    "name": "stargazin-like",
                    "type": "synonym"
                },
                {
                    "name": "stg1-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "stg1",
                    "type": "recommended"
                },
                {
                    "name": "CG10985",
                    "type": "synonym"
                },
                {
                    "name": "CG11566",
                    "type": "synonym"
                },
                {
                    "name": "CG11568",
                    "type": "synonym"
                },
                {
                    "name": "CG11569",
                    "type": "synonym"
                },
                {
                    "name": "CG32514-ORFA",
                    "type": "synonym"
                },
                {
                    "name": "CG32514",
                    "type": "synonym"
                },
                {
                    "name": "CG33670",
                    "type": "synonym"
                },
                {
                    "name": "CG46498",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG46498",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG46498",
                    "type": "synonym"
                },
                {
                    "name": "Dro STG1",
                    "type": "synonym"
                },
                {
                    "name": "STG1",
                    "type": "synonym"
                },
                {
                    "name": "Stg1",
                    "type": "synonym"
                },
                {
                    "name": "stg1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2MGK8-1",
            "evidence": [
                {
                    "id": "0070040",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070040"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070040"
}