{
    "disease_id": "DOID:0081200",
    "recommended_name": {
        "id": "DOID:0081200",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0081200",
        "name": "autosomal recessive intellectual developmental disorder 34",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the CRADD gene on chromosome 12q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0013785",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013785",
            "name": "intellectual disability, autosomal recessive 34",
            "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRADD gene."
        },
        {
            "id": "MONDO:0013785",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013785",
            "name": "CRADD autosomal recessive non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0013785",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013785",
            "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in CRADD",
            "description": ""
        },
        {
            "id": "MONDO:0013785",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013785",
            "name": "intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly",
            "description": ""
        },
        {
            "id": "MONDO:0013785",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013785",
            "name": "intellectual disability, autosomal recessive 34",
            "description": ""
        },
        {
            "id": "MONDO:0013785",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013785",
            "name": "intellectual disability, autosomal recessive type 34",
            "description": ""
        },
        {
            "id": "MONDO:0013785",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013785",
            "name": "mental retardation, autosomal recessive type 34",
            "description": ""
        },
        {
            "id": "MONDO:0013785",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013785",
            "name": "MRT34",
            "description": ""
        },
        {
            "id": "MONDO:0013785",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013785",
            "name": "intellectual disability, autosomal recessive 34, with variant lissencephaly",
            "description": ""
        },
        {
            "id": "MONDO:0013785",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013785",
            "name": "mental retardation, autosomal recessive 34",
            "description": ""
        },
        {
            "id": "MONDO:0013785",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013785",
            "name": "mental retardation, autosomal recessive 34, with variant lissencephaly",
            "description": ""
        },
        {
            "id": "MIM:614499",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614499",
            "name": "Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly",
            "description": "Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081200"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081200",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0081200",
            "categories": []
        },
        {
            "id": "MONDO:0013785",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013785",
            "categories": []
        },
        {
            "id": "MIM:614499",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614499",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O88843-1",
            "uniprot_ac": "O88843",
            "uniprot_id": "CRADD_MOUSE",
            "refseq_ac": "NP_001317067",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Death domain-containing protein CRADD",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Caspase and RIP adapter with death domain",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RIP-associated protein with a death domain",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "caspase and RIP adapter with death domain; RIP-associated protein with a death domain",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "death domain-containing protein CRADD",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cradd",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Cradd",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "RAIDD",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Raidd",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0081200",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081200"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P78560-1",
            "uniprot_ac": "P78560",
            "uniprot_id": "CRADD_HUMAN",
            "refseq_ac": "NP_001307028",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Death domain-containing protein CRADD",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Caspase and RIP adapter with death domain",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RIP-associated protein with a death domain",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "caspase and RIP adaptor with death domain; RIP-associated ICH1/CED3-homologous protein with death domain; death adaptor molecule RAIDD; death domain containing protein CRADD; CRADD/LYZ fusion",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "death domain-containing protein CRADD isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRADD",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CRADD",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "MRT34; RAIDD",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "RAIDD",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0081200",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081200"
                },
                {
                    "id": "614499",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614499"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XJP2-1",
            "uniprot_ac": "Q5XJP2",
            "uniprot_id": "Q5XJP2_DANRE",
            "refseq_ac": "NP_001006066",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "CASP2 and RIPK1 domain-containing adaptor with death domain",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Death domain-containing protein CRADD",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Zgc:101717",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "death domain-containing protein CRADD",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cradd",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "cradd",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101717",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101717",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0081200",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081200"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AGR2-1",
            "uniprot_ac": "A0A8I6AGR2",
            "uniprot_id": "A0A8I6AGR2_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "CASP2 and RIPK1 domain containing adaptor with death domain",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cradd",
                    "resource": "UniProtKB",
                    "type": "recommended"
                }
            ],
            "evidence": [
                {
                    "id": "0081200",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081200"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P37727-1",
            "uniprot_ac": "P37727",
            "uniprot_id": "RAE1_RAT",
            "refseq_ac": "NP_058763",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rab proteins geranylgeranyltransferase component A 1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Choroideremia protein homolog",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "REP-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Rab escort protein 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "rab proteins geranylgeranyltransferase component A 1 isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "rab proteins geranylgeranyltransferase component A 1; REP-1; rab escort protein 1; choroideraemia protein homolog; choroidermia; choroideremia (Rab escort protein 1); choroideremia protein homolog; CHM, Rab escort protein 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chm",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Chm",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Rep1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0081200",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081200"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081200"
}