{
    "disease_id": "DOID:0081179",
    "recommended_name": {
        "id": "DOID:0081179",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081179",
        "name": "autosomal recessive intellectual developmental disorder 3",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CC2D1A gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0012037",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012037",
            "name": "intellectual disability, autosomal recessive 3",
            "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene."
        },
        {
            "id": "MONDO:0012037",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012037",
            "name": "CC2D1A autosomal recessive non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0012037",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012037",
            "name": "MRT3",
            "description": ""
        },
        {
            "id": "MONDO:0012037",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012037",
            "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in CC2D1A",
            "description": ""
        },
        {
            "id": "MONDO:0012037",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012037",
            "name": "intellectual disability, autosomal recessive 3",
            "description": ""
        },
        {
            "id": "MONDO:0012037",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012037",
            "name": "intellectual disability, autosomal recessive type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012037",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012037",
            "name": "mental retardation, autosomal recessive 3",
            "description": ""
        },
        {
            "id": "MONDO:0012037",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012037",
            "name": "mental retardation, autosomal recessive type 3",
            "description": ""
        },
        {
            "id": "MIM:608443",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608443",
            "name": "Intellectual developmental disorder, autosomal recessive 3",
            "description": "Intellectual developmental disorder, autosomal recessive 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081179"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081179",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081179",
            "categories": []
        },
        {
            "id": "MONDO:0012037",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012037",
            "categories": []
        },
        {
            "id": "MIM:608443",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608443",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1Q7L9-1",
            "uniprot_ac": "A0A8M1Q7L9",
            "uniprot_id": "A0A8M1Q7L9_DANRE",
            "refseq_ac": "XP_001341323",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil and C2 domain-containing protein 1B",
                    "type": "recommended"
                },
                {
                    "name": "coiled-coil and C2 domain-containing protein 1A isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cc2d1a",
                    "type": "recommended"
                },
                {
                    "name": "cc2d1a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1Q7L9-1",
            "evidence": [
                {
                    "id": "0081179",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081179"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K1A6-1",
            "uniprot_ac": "Q8K1A6",
            "uniprot_id": "C2D1A_MOUSE",
            "refseq_ac": "NP_666082",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil and C2 domain-containing protein 1A",
                    "type": "recommended"
                },
                {
                    "name": "5-HT1A receptor",
                    "type": "synonym"
                },
                {
                    "name": "FRE under dual repression-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Five prime repressor element under dual repression-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Freud-1",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil and C2 domain-containing protein 1A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil and C2 domain-containing protein 1A",
                    "type": "synonym"
                },
                {
                    "name": "five prime repressor element under dual repression-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "five' repressor element under dual repression binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "putative NFkB activating protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cc2d1a",
                    "type": "recommended"
                },
                {
                    "name": "Cc2d1a",
                    "type": "synonym"
                },
                {
                    "name": "Freud-1",
                    "type": "synonym"
                },
                {
                    "name": "Tape",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K1A6-1",
            "evidence": [
                {
                    "id": "0081179",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081179"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P1N0-1",
            "uniprot_ac": "Q6P1N0",
            "uniprot_id": "C2D1A_HUMAN",
            "refseq_ac": "NP_060191",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil and C2 domain-containing protein 1A",
                    "type": "recommended"
                },
                {
                    "name": "Akt kinase-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "FRE under dual repression-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Five prime repressor element under dual repression-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Freud-1",
                    "type": "synonym"
                },
                {
                    "name": "Putative NF-kappa-B-activating protein 023N",
                    "type": "synonym"
                },
                {
                    "name": "TBK1-associated protein in endolysosomes",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil and C2 domain-containing protein 1A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil and C2 domain-containing protein 1A",
                    "type": "synonym"
                },
                {
                    "name": "five prime repressor element under dual repression-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "five repressor element under dual repression-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) giant discs homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "putative NF-kappa-B-activating protein 023N",
                    "type": "synonym"
                },
                {
                    "name": "putative NFkB activating protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CC2D1A",
                    "type": "recommended"
                },
                {
                    "name": "AKI1",
                    "type": "synonym"
                },
                {
                    "name": "Aki-1",
                    "type": "synonym"
                },
                {
                    "name": "CC2D1A",
                    "type": "synonym"
                },
                {
                    "name": "FREUD-1",
                    "type": "synonym"
                },
                {
                    "name": "Freud-1/Aki1",
                    "type": "synonym"
                },
                {
                    "name": "LGD2",
                    "type": "synonym"
                },
                {
                    "name": "Lgd2",
                    "type": "synonym"
                },
                {
                    "name": "MRT3",
                    "type": "synonym"
                },
                {
                    "name": "TAPE",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P1N0-1",
            "evidence": [
                {
                    "id": "608443",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608443"
                },
                {
                    "id": "0081179",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081179"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q66HA5-1",
            "uniprot_ac": "Q66HA5",
            "uniprot_id": "C2D1A_RAT",
            "refseq_ac": "NP_001013891",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil and C2 domain-containing protein 1A",
                    "type": "recommended"
                },
                {
                    "name": "FRE under dual repression-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Five prime repressor element under dual repression-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Freud-1",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil and C2 domain-containing protein 1A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil and C2 domain-containing protein 1A",
                    "type": "synonym"
                },
                {
                    "name": "five prime repressor element under dual repression-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "five repressor element under dual repression-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "freud-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cc2d1a",
                    "type": "recommended"
                },
                {
                    "name": "Cc2d1a",
                    "type": "synonym"
                },
                {
                    "name": "RGD1306108",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66HA5-1",
            "evidence": [
                {
                    "id": "0081179",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081179"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VKJ9-1",
            "uniprot_ac": "Q9VKJ9",
            "uniprot_id": "C2D1_DROME",
            "refseq_ac": "NP_609488",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil and C2 domain-containing protein 1-like",
                    "type": "recommended"
                },
                {
                    "name": "CG4713-PA",
                    "type": "synonym"
                },
                {
                    "name": "Lethal (2) giant discs 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "l(2)gd1-PA",
                    "type": "synonym"
                },
                {
                    "name": "leathal giant disc",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) SH0495",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) giant discs 1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) giant discs",
                    "type": "synonym"
                },
                {
                    "name": "lethal giant discs",
                    "type": "synonym"
                },
                {
                    "name": "lethal(2) giant discs",
                    "type": "synonym"
                },
                {
                    "name": "lethal(2)giant discs 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "l(2)gd1",
                    "type": "recommended"
                },
                {
                    "name": "CG4713",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4713",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4713",
                    "type": "synonym"
                },
                {
                    "name": "Lgd",
                    "type": "synonym"
                },
                {
                    "name": "SH495",
                    "type": "synonym"
                },
                {
                    "name": "gd",
                    "type": "synonym"
                },
                {
                    "name": "l(2)SH0495",
                    "type": "synonym"
                },
                {
                    "name": "l(2)SH2 0495",
                    "type": "synonym"
                },
                {
                    "name": "l(2)gd1",
                    "type": "synonym"
                },
                {
                    "name": "l(2)gd",
                    "type": "synonym"
                },
                {
                    "name": "l(2)giant disc",
                    "type": "synonym"
                },
                {
                    "name": "l[[2]]gd",
                    "type": "synonym"
                },
                {
                    "name": "lgd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VKJ9-1",
            "evidence": [
                {
                    "id": "0081179",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081179"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081179"
}