{
    "disease_id": "DOID:0081207",
    "recommended_name": {
        "id": "DOID:0081207",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081207",
        "name": "autosomal recessive intellectual developmental disorder 43",
        "description": "An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features and that has_material_basis_in homozygous mutation in the KIAA1033 gene (WASHC4) on chromosome 12q23. Some patients may have significant motor delays."
    },
    "synonyms": [
        {
            "id": "MONDO:0014354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014354",
            "name": "intellectual disability, autosomal recessive 43",
            "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the WASHC4 gene."
        },
        {
            "id": "MONDO:0014354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014354",
            "name": "WASHC4 autosomal recessive non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0014354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014354",
            "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in WASHC4",
            "description": ""
        },
        {
            "id": "MONDO:0014354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014354",
            "name": "intellectual developmental disorder, autosomal recessive 43",
            "description": ""
        },
        {
            "id": "MONDO:0014354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014354",
            "name": "intellectual disability, autosomal recessive 43",
            "description": ""
        },
        {
            "id": "MONDO:0014354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014354",
            "name": "intellectual disability, autosomal recessive type 43",
            "description": ""
        },
        {
            "id": "MONDO:0014354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014354",
            "name": "mental retardation, autosomal recessive type 43",
            "description": ""
        },
        {
            "id": "MONDO:0014354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014354",
            "name": "MRT43",
            "description": ""
        },
        {
            "id": "MONDO:0014354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014354",
            "name": "mental retardation, autosomal recessive 43",
            "description": ""
        },
        {
            "id": "MIM:615817",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615817",
            "name": "Intellectual developmental disorder, autosomal recessive 43",
            "description": "Intellectual developmental disorder, autosomal recessive 43"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081207"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081207",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081207",
            "categories": []
        },
        {
            "id": "MONDO:0014354",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014354",
            "categories": []
        },
        {
            "id": "MIM:615817",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615817",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F4L4-1",
            "uniprot_ac": "E7F4L4",
            "uniprot_id": "E7F4L4_DANRE",
            "refseq_ac": "XP_694117",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "WASH complex subunit 4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "washc4",
                    "type": "recommended"
                },
                {
                    "name": "washc4",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F4L4-1",
            "evidence": [
                {
                    "id": "0081207",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081207"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UMB9-1",
            "uniprot_ac": "Q3UMB9",
            "uniprot_id": "WASC4_MOUSE",
            "refseq_ac": "NP_001028547",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "WASH complex subunit 4",
                    "type": "recommended"
                },
                {
                    "name": "WASH complex subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "WASH complex subunit 7",
                    "type": "synonym"
                },
                {
                    "name": "WASH complex subunit SWIP",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Washc4",
                    "type": "recommended"
                },
                {
                    "name": "A230046K03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1033",
                    "type": "synonym"
                },
                {
                    "name": "Washc4",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1033",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UMB9-1",
            "evidence": [
                {
                    "id": "0081207",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081207"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62168-1",
            "uniprot_ac": "Q62168",
            "uniprot_id": "K1H2_MOUSE",
            "refseq_ac": "NP_001152846",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type I cuticular Ha2",
                    "type": "recommended"
                },
                {
                    "name": "Hair keratin, type I Ha2",
                    "type": "synonym"
                },
                {
                    "name": "K32",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-32",
                    "type": "synonym"
                },
                {
                    "name": "hair keratin, type I Ha2",
                    "type": "synonym"
                },
                {
                    "name": "keratin complex 1, acidic, gene 2",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type I cuticular Ha2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Krt32",
                    "type": "recommended"
                },
                {
                    "name": "Ha3",
                    "type": "synonym"
                },
                {
                    "name": "Hka2",
                    "type": "synonym"
                },
                {
                    "name": "K32",
                    "type": "synonym"
                },
                {
                    "name": "Krt1-2",
                    "type": "synonym"
                },
                {
                    "name": "Krt32",
                    "type": "synonym"
                },
                {
                    "name": "Krtha2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62168-1",
            "evidence": [
                {
                    "id": "0081207",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081207"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2M389-1",
            "uniprot_ac": "Q2M389",
            "uniprot_id": "WASC4_HUMAN",
            "refseq_ac": "NP_056090",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "WASH complex subunit 4",
                    "type": "recommended"
                },
                {
                    "name": "SWIP",
                    "type": "synonym"
                },
                {
                    "name": "Strumpellin and WASH-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "WASH complex subunit 4 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "WASH complex subunit 7",
                    "type": "synonym"
                },
                {
                    "name": "WASH complex subunit SWIP",
                    "type": "synonym"
                },
                {
                    "name": "strumpellin and WASH-interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WASHC4",
                    "type": "recommended"
                },
                {
                    "name": "KIAA1033",
                    "type": "synonym"
                },
                {
                    "name": "MRT43",
                    "type": "synonym"
                },
                {
                    "name": "SWIP",
                    "type": "synonym"
                },
                {
                    "name": "WASHC4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2M389-1",
            "evidence": [
                {
                    "id": "615817",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615817"
                },
                {
                    "id": "0081207",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081207"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A7I6-1",
            "uniprot_ac": "D4A7I6",
            "uniprot_id": "D4A7I6_RAT",
            "refseq_ac": "NP_001386701",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "WASH complex subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "WASH complex subunit 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Washc4",
                    "type": "recommended"
                },
                {
                    "name": "RGD1309995",
                    "type": "synonym"
                },
                {
                    "name": "Washc4",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A7I6-1",
            "evidence": [
                {
                    "id": "0081207",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081207"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXH9-1",
            "uniprot_ac": "Q9VXH9",
            "uniprot_id": "WASC4_DROME",
            "refseq_ac": "NP_573116",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "WASH complex subunit 4",
                    "type": "recommended"
                },
                {
                    "name": "CG13957-PB",
                    "type": "synonym"
                },
                {
                    "name": "SWIP-PB",
                    "type": "synonym"
                },
                {
                    "name": "Strumpellin and WASH-interacting protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "WASH complex subunit SWIP homolog",
                    "type": "synonym"
                },
                {
                    "name": "strumpellin and WASH-interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SWIP",
                    "type": "recommended"
                },
                {
                    "name": "CG13957",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13957",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1033",
                    "type": "synonym"
                },
                {
                    "name": "SWIP",
                    "type": "synonym"
                },
                {
                    "name": "p116",
                    "type": "synonym"
                },
                {
                    "name": "swip",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VXH9-1",
            "evidence": [
                {
                    "id": "0081207",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081207"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081207"
}