{
    "disease_id": "DOID:0061129",
    "recommended_name": {
        "id": "DOID:0061129",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061129",
        "name": "intellectual developmental disorder with dysmorphic facies and behavioral abnormalities",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in FBXO11 gene on chromosome 2p16."
    },
    "synonyms": [
        {
            "id": "DOID:0061129",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061129",
            "name": "FBXO11-related NDD",
            "description": ""
        },
        {
            "id": "DOID:0061129",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061129",
            "name": "FBXO11-related neurodevelopmental disorder",
            "description": ""
        },
        {
            "id": "DOID:0061129",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061129",
            "name": "IDDFBA",
            "description": ""
        },
        {
            "id": "MONDO:0060760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060760",
            "name": "intellectual developmental disorder with dysmorphic facies and behavioral abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0060760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060760",
            "name": "IDDFBA",
            "description": ""
        },
        {
            "id": "MONDO:0060760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060760",
            "name": "INTELLECTUAL developmental disorder with DYSMORPHIC facies and behavioural abnormalities",
            "description": ""
        },
        {
            "id": "MIM:618089",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618089",
            "name": "Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities",
            "description": "Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061129"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061129",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061129",
            "categories": []
        },
        {
            "id": "MONDO:0060760",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060760",
            "categories": []
        },
        {
            "id": "MIM:618089",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618089",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QEP9-1",
            "uniprot_ac": "A0A8M9QEP9",
            "uniprot_id": "A0A8M9QEP9_DANRE",
            "refseq_ac": "XP_005156289",
            "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 11",
                    "type": "recommended"
                },
                {
                    "name": "F-box only protein 11 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fbxo11a",
                    "type": "recommended"
                },
                {
                    "name": "fbxo11b",
                    "type": "recommended"
                },
                {
                    "name": "fbxo11b",
                    "type": "synonym"
                },
                {
                    "name": "fbxo11",
                    "type": "synonym"
                },
                {
                    "name": "fj83f06",
                    "type": "synonym"
                },
                {
                    "name": "im:6906507",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj83f06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153171",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QEP9-1",
            "evidence": [
                {
                    "id": "0061129",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061129"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TPD1-1",
            "uniprot_ac": "Q7TPD1",
            "uniprot_id": "FBX11_MOUSE",
            "refseq_ac": "NP_001074503",
            "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 11",
                    "type": "recommended"
                },
                {
                    "name": "F-box only protein 11 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "F-box only protein 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fbxo11",
                    "type": "recommended"
                },
                {
                    "name": "Fbxo11",
                    "type": "synonym"
                },
                {
                    "name": "Jf",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TPD1-1",
            "evidence": [
                {
                    "id": "0061129",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061129"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86XK2-1",
            "uniprot_ac": "Q86XK2",
            "uniprot_id": "FBX11_HUMAN",
            "refseq_ac": "NP_001177203",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box only protein 11",
                    "type": "recommended"
                },
                {
                    "name": "F-box only protein 11 isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "F-box only protein 11",
                    "type": "synonym"
                },
                {
                    "name": "Protein arginine N-methyltransferase 9",
                    "type": "synonym"
                },
                {
                    "name": "VIT-1",
                    "type": "synonym"
                },
                {
                    "name": "Vitiligo-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin protein ligase E3 component n-recognin 6",
                    "type": "synonym"
                },
                {
                    "name": "vitiligo-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "vitiligo-associated protein VIT-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FBXO11",
                    "type": "recommended"
                },
                {
                    "name": "FBX11",
                    "type": "synonym"
                },
                {
                    "name": "FBXO11",
                    "type": "synonym"
                },
                {
                    "name": "IDDFBA",
                    "type": "synonym"
                },
                {
                    "name": "PRMT9",
                    "type": "synonym"
                },
                {
                    "name": "UBR6",
                    "type": "synonym"
                },
                {
                    "name": "UG063H01",
                    "type": "synonym"
                },
                {
                    "name": "VIT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86XK2-1",
            "evidence": [
                {
                    "id": "618089",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618089"
                },
                {
                    "id": "0061129",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061129"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TSL3-1",
            "uniprot_ac": "Q7TSL3",
            "uniprot_id": "FBX11_RAT",
            "refseq_ac": "NP_853662",
            "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 11",
                    "type": "recommended"
                },
                {
                    "name": "F-box only protein 11-like",
                    "type": "synonym"
                },
                {
                    "name": "F-box only protein 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fbxo11",
                    "type": "recommended"
                },
                {
                    "name": "Fbxo11",
                    "type": "synonym"
                },
                {
                    "name": "Vit1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TSL3-1",
            "evidence": [
                {
                    "id": "0061129",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061129"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VH60-1",
            "uniprot_ac": "Q9VH60",
            "uniprot_id": "Q9VH60_DROME",
            "refseq_ac": "NP_001262441",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box only protein 11",
                    "type": "recommended"
                },
                {
                    "name": "CG9461-PB",
                    "type": "synonym"
                },
                {
                    "name": "F-box protein 11, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "FBX011 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "FBXO11-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FBXO11",
                    "type": "recommended"
                },
                {
                    "name": "CG9461",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9461",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9461",
                    "type": "synonym"
                },
                {
                    "name": "FBX011",
                    "type": "synonym"
                },
                {
                    "name": "FBXO11",
                    "type": "synonym"
                },
                {
                    "name": "Fbx011",
                    "type": "synonym"
                },
                {
                    "name": "Fbxo11",
                    "type": "synonym"
                },
                {
                    "name": "UBR6",
                    "type": "synonym"
                },
                {
                    "name": "dFBX011",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VH60-1",
            "evidence": [
                {
                    "id": "0061129",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061129"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061129"
}