{
    "disease_id": "DOID:0081178",
    "recommended_name": {
        "id": "DOID:0081178",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081178",
        "name": "autosomal recessive intellectual developmental disorder 2",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding cereblon (CRBN) on chromosome 3p26."
    },
    "synonyms": [
        {
            "id": "MONDO:0011828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011828",
            "name": "intellectual disability, autosomal recessive 2",
            "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRBN gene."
        },
        {
            "id": "MONDO:0011828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011828",
            "name": "CRBN autosomal recessive non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0011828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011828",
            "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in CRBN",
            "description": ""
        },
        {
            "id": "MONDO:0011828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011828",
            "name": "intellectual disability, autosomal recessive 2",
            "description": ""
        },
        {
            "id": "MONDO:0011828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011828",
            "name": "intellectual disability, autosomal recessive type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011828",
            "name": "mental retardation, autosomal recessive type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011828",
            "name": "MRT2",
            "description": ""
        },
        {
            "id": "MONDO:0011828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011828",
            "name": "mental retardation, autosomal recessive 2",
            "description": ""
        },
        {
            "id": "MONDO:0011828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011828",
            "name": "mental retardation, autosomal recessive 2A",
            "description": ""
        },
        {
            "id": "MIM:607417",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607417",
            "name": "Intellectual developmental disorder, autosomal recessive 2",
            "description": "Intellectual developmental disorder, autosomal recessive 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081178"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081178",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081178",
            "categories": []
        },
        {
            "id": "MONDO:0011828",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011828",
            "categories": []
        },
        {
            "id": "MIM:607417",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607417",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q68EH9-1",
            "uniprot_ac": "Q68EH9",
            "uniprot_id": "CRBN_DANRE",
            "refseq_ac": "NP_001003996",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein cereblon",
                    "type": "recommended"
                },
                {
                    "name": "protein cereblon",
                    "type": "synonym"
                },
                {
                    "name": "zcrbn",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "crbn",
                    "type": "recommended"
                },
                {
                    "name": "crbn",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92404",
                    "type": "synonym"
                }
            ],
            "record_id": "Q68EH9-1",
            "evidence": [
                {
                    "id": "0081178",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081178"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C7D2-1",
            "uniprot_ac": "Q8C7D2",
            "uniprot_id": "CRBN_MOUSE",
            "refseq_ac": "NP_067424",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein cereblon",
                    "type": "recommended"
                },
                {
                    "name": "Protein PiL",
                    "type": "synonym"
                },
                {
                    "name": "novel lethal",
                    "type": "synonym"
                },
                {
                    "name": "protein PiL",
                    "type": "synonym"
                },
                {
                    "name": "protein cereblon isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein cereblon",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Crbn",
                    "type": "recommended"
                },
                {
                    "name": "2610203G15Rik",
                    "type": "synonym"
                },
                {
                    "name": "2900045O07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Crbn",
                    "type": "synonym"
                },
                {
                    "name": "piL",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C7D2-1",
            "evidence": [
                {
                    "id": "0081178",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081178"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96SW2-1",
            "uniprot_ac": "Q96SW2",
            "uniprot_id": "CRBN_HUMAN",
            "refseq_ac": "NP_001166953",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein cereblon",
                    "type": "recommended"
                },
                {
                    "name": "protein cereblon isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein x 0001",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRBN",
                    "type": "recommended"
                },
                {
                    "name": "AD-006",
                    "type": "synonym"
                },
                {
                    "name": "CRBN",
                    "type": "synonym"
                },
                {
                    "name": "MRT2A",
                    "type": "synonym"
                },
                {
                    "name": "MRT2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96SW2-1",
            "evidence": [
                {
                    "id": "607417",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607417"
                },
                {
                    "id": "0081178",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081178"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q56AP7-1",
            "uniprot_ac": "Q56AP7",
            "uniprot_id": "CRBN_RAT",
            "refseq_ac": "NP_001015003",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein cereblon",
                    "type": "recommended"
                },
                {
                    "name": "protein cereblon",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Crbn",
                    "type": "recommended"
                },
                {
                    "name": "Crbn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q56AP7-1",
            "evidence": [
                {
                    "id": "0081178",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081178"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VH36-1",
            "uniprot_ac": "Q9VH36",
            "uniprot_id": "CRBN_DROME",
            "refseq_ac": "NP_649973",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein cereblon",
                    "type": "recommended"
                },
                {
                    "name": "CG3925-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein ohgata",
                    "type": "synonym"
                },
                {
                    "name": "ohgata",
                    "type": "synonym"
                },
                {
                    "name": "ohgt-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ohgt",
                    "type": "recommended"
                },
                {
                    "name": "CG3925",
                    "type": "synonym"
                },
                {
                    "name": "Crbn",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3925",
                    "type": "synonym"
                },
                {
                    "name": "crbn",
                    "type": "synonym"
                },
                {
                    "name": "ohgt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VH36-1",
            "evidence": [
                {
                    "id": "0081178",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081178"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081178"
}