{
    "disease_id": "DOID:0081209",
    "recommended_name": {
        "id": "DOID:0081209",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081209",
        "name": "autosomal recessive intellectual developmental disorder 45",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FBXO31 gene on chromosome 16q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0014430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014430",
            "name": "intellectual disability, autosomal recessive 45",
            "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FBXO31 gene."
        },
        {
            "id": "MONDO:0014430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014430",
            "name": "FBXO31 autosomal recessive non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0014430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014430",
            "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in FBXO31",
            "description": ""
        },
        {
            "id": "MONDO:0014430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014430",
            "name": "intellectual disability, autosomal recessive 45",
            "description": ""
        },
        {
            "id": "MONDO:0014430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014430",
            "name": "intellectual disability, autosomal recessive type 45",
            "description": ""
        },
        {
            "id": "MONDO:0014430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014430",
            "name": "mental retardation, autosomal recessive type 45",
            "description": ""
        },
        {
            "id": "MONDO:0014430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014430",
            "name": "MRT45",
            "description": ""
        },
        {
            "id": "MONDO:0014430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014430",
            "name": "mental retardation, autosomal recessive 45",
            "description": ""
        },
        {
            "id": "MIM:615979",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615979",
            "name": "Intellectual developmental disorder, autosomal recessive 45",
            "description": "Intellectual developmental disorder, autosomal recessive 45"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081209"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081209",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081209",
            "categories": []
        },
        {
            "id": "MONDO:0014430",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014430",
            "categories": []
        },
        {
            "id": "MIM:615979",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615979",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58IYD6-1",
            "uniprot_ac": "A0AC58IYD6",
            "uniprot_id": "A0AC58IYD6_DANRE",
            "refseq_ac": "XP_073799244",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box only protein 31 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fbxo31",
                    "type": "recommended"
                },
                {
                    "name": "fbxo31",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58IYD6-1",
            "evidence": [
                {
                    "id": "0081209",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081209"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3TQF0-1",
            "uniprot_ac": "Q3TQF0",
            "uniprot_id": "FBX31_MOUSE",
            "refseq_ac": "NP_598526",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box only protein 31",
                    "type": "recommended"
                },
                {
                    "name": "F-box only protein 14",
                    "type": "synonym"
                },
                {
                    "name": "F-box only protein 31 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "F-box only protein 31",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fbxo31",
                    "type": "recommended"
                },
                {
                    "name": "1110003O08Rik",
                    "type": "synonym"
                },
                {
                    "name": "2310046N15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fbx14",
                    "type": "synonym"
                },
                {
                    "name": "Fbxo14",
                    "type": "synonym"
                },
                {
                    "name": "Fbxo31",
                    "type": "synonym"
                },
                {
                    "name": "MNCb-2609",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3TQF0-1",
            "evidence": [
                {
                    "id": "0081209",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081209"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XUX0-1",
            "uniprot_ac": "Q5XUX0",
            "uniprot_id": "FBX31_HUMAN",
            "refseq_ac": "NP_001269612",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box only protein 31",
                    "type": "recommended"
                },
                {
                    "name": "F-box only protein 31 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "F-box only protein 31",
                    "type": "synonym"
                },
                {
                    "name": "SCF ubiquitin ligase specificity factor",
                    "type": "synonym"
                },
                {
                    "name": "putative breast cancer tumor-suppressor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FBXO31",
                    "type": "recommended"
                },
                {
                    "name": "FBX14",
                    "type": "synonym"
                },
                {
                    "name": "FBX31",
                    "type": "synonym"
                },
                {
                    "name": "FBXO14",
                    "type": "synonym"
                },
                {
                    "name": "FBXO31",
                    "type": "synonym"
                },
                {
                    "name": "Fbx31",
                    "type": "synonym"
                },
                {
                    "name": "MRT45",
                    "type": "synonym"
                },
                {
                    "name": "PP2386",
                    "type": "synonym"
                },
                {
                    "name": "pp2386",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XUX0-1",
            "evidence": [
                {
                    "id": "615979",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615979"
                },
                {
                    "id": "0081209",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081209"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B2RYN2-1",
            "uniprot_ac": "B2RYN2",
            "uniprot_id": "FBX31_RAT",
            "refseq_ac": "NP_001037724",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box only protein 31",
                    "type": "recommended"
                },
                {
                    "name": "F-box only protein 31 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "F-box only protein 31",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fbxo31",
                    "type": "recommended"
                },
                {
                    "name": "Fbxo31",
                    "type": "synonym"
                },
                {
                    "name": "RGD1561069",
                    "type": "synonym"
                }
            ],
            "record_id": "B2RYN2-1",
            "evidence": [
                {
                    "id": "0081209",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081209"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081209"
}