{
    "disease_id": "DOID:0112026",
    "recommended_name": {
        "id": "DOID:0112026",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112026",
        "name": "non-syndromic X-linked intellectual disability 99",
        "description": "A non-syndromic X-linked intellectual disability characterized by developmental delay, hypotonia, and variable behavioral abnormalities that has_material_basis_in hemizygous mutation in the USP9X gene on chromosome Xp11.4."
    },
    "synonyms": [
        {
            "id": "DOID:0112026",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112026",
            "name": "MRX99",
            "description": ""
        },
        {
            "id": "DOID:0112026",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112026",
            "name": "X-linked mental retardation 99",
            "description": ""
        },
        {
            "id": "MONDO:0010487",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010487",
            "name": "intellectual disability, X-linked 99",
            "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP9X gene."
        },
        {
            "id": "MONDO:0010487",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010487",
            "name": "USP9X non-syndromic X-linked intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010487",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010487",
            "name": "intellectual developmental disorder, X-linked 99, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010487",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010487",
            "name": "intellectual disability, X-linked 99",
            "description": ""
        },
        {
            "id": "MONDO:0010487",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010487",
            "name": "intellectual disability, X-linked type 99",
            "description": ""
        },
        {
            "id": "MONDO:0010487",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010487",
            "name": "mental retardation, X-linked type 99",
            "description": ""
        },
        {
            "id": "MONDO:0010487",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010487",
            "name": "non-syndromic X-linked intellectual disability caused by mutation in USP9X",
            "description": ""
        },
        {
            "id": "MONDO:0010487",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010487",
            "name": "MRX99",
            "description": ""
        },
        {
            "id": "MONDO:0010487",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010487",
            "name": "mental retardation, X-linked 99",
            "description": ""
        },
        {
            "id": "MIM:300919",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300919",
            "name": "Intellectual developmental disorder, X-linked 99",
            "description": "Intellectual developmental disorder, X-linked 99"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112026"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112026",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112026",
            "categories": []
        },
        {
            "id": "MONDO:0010487",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010487",
            "categories": []
        },
        {
            "id": "MIM:300919",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300919",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AW48-1",
            "uniprot_ac": "A0A8M3AW48",
            "uniprot_id": "A0A8M3AW48_DANRE",
            "refseq_ac": "XP_009303032",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ubiquitinyl hydrolase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase 9X isoform X4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "usp9",
                    "type": "recommended"
                },
                {
                    "name": "usp9",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AW48-1",
            "evidence": [
                {
                    "id": "0112026",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112026"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70398-1",
            "uniprot_ac": "P70398",
            "uniprot_id": "USP9X_MOUSE",
            "refseq_ac": "NP_033507",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin carboxyl-terminal hydrolase 9X",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "Deubiquitinating enzyme FAF-X",
                    "type": "synonym"
                },
                {
                    "name": "Fat facets homolog",
                    "type": "synonym"
                },
                {
                    "name": "Fat facets protein-related, X-linked",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin carboxyl-terminal hydrolase FAM",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin thioesterase FAF-X",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-specific protease 9, X chromosome",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-specific-processing protease FAF-X",
                    "type": "synonym"
                },
                {
                    "name": "deubiquitinating enzyme FAF-X",
                    "type": "synonym"
                },
                {
                    "name": "fat facets homolog",
                    "type": "synonym"
                },
                {
                    "name": "fat facets protein-related, X-linked",
                    "type": "synonym"
                },
                {
                    "name": "fats facets protein related, X",
                    "type": "synonym"
                },
                {
                    "name": "probable ubiquitin carboxyl-terminal hydrolase FAF-X",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase 9X isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase 9X",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase FAM",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin thioesterase FAF-X",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin thiolesterase FAF-X",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-specific protease 9, X chromosome",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-specific-processing protease FAF-X",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Usp9x",
                    "type": "recommended"
                },
                {
                    "name": "5730589N07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dffrx",
                    "type": "synonym"
                },
                {
                    "name": "FAF-X",
                    "type": "synonym"
                },
                {
                    "name": "Fafl",
                    "type": "synonym"
                },
                {
                    "name": "Fam",
                    "type": "synonym"
                },
                {
                    "name": "Usp9x",
                    "type": "synonym"
                }
            ],
            "record_id": "P70398-1",
            "evidence": [
                {
                    "id": "0112026",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112026"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q93008-1",
            "uniprot_ac": "Q93008",
            "uniprot_id": "USP9X_HUMAN",
            "refseq_ac": "NP_001034679",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin carboxyl-terminal hydrolase 9X",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "Deubiquitinating enzyme FAF-X",
                    "type": "synonym"
                },
                {
                    "name": "Drosophila fat facets related, X-linked",
                    "type": "synonym"
                },
                {
                    "name": "Fat facets in mammals",
                    "type": "synonym"
                },
                {
                    "name": "Fat facets protein-related, X-linked",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin thioesterase FAF-X",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-specific protease 9, X chromosome",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-specific-processing protease FAF-X",
                    "type": "synonym"
                },
                {
                    "name": "deubiquitinating enzyme FAF-X",
                    "type": "synonym"
                },
                {
                    "name": "fat facets in mammals",
                    "type": "synonym"
                },
                {
                    "name": "fat facets protein related, X-linked",
                    "type": "synonym"
                },
                {
                    "name": "fat facets-like, X-linked",
                    "type": "synonym"
                },
                {
                    "name": "hFAM",
                    "type": "synonym"
                },
                {
                    "name": "probable ubiquitin carboxyl-terminal hydrolase FAF-X",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase 9X isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase 9X",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin thioesterase FAF-X",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin thiolesterase FAF-X",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-specific processing protease FAF-X",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-specific protease 9, X chromosome",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "USP9X",
                    "type": "recommended"
                },
                {
                    "name": "DFFRX",
                    "type": "synonym"
                },
                {
                    "name": "FAF-X",
                    "type": "synonym"
                },
                {
                    "name": "FAF",
                    "type": "synonym"
                },
                {
                    "name": "FAM",
                    "type": "synonym"
                },
                {
                    "name": "MRX99",
                    "type": "synonym"
                },
                {
                    "name": "MRXS99F",
                    "type": "synonym"
                },
                {
                    "name": "USP9X",
                    "type": "synonym"
                },
                {
                    "name": "USP9",
                    "type": "synonym"
                },
                {
                    "name": "XLID99",
                    "type": "synonym"
                },
                {
                    "name": "hFAM",
                    "type": "synonym"
                }
            ],
            "record_id": "Q93008-1",
            "evidence": [
                {
                    "id": "300919",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300919"
                },
                {
                    "id": "0112026",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112026"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K2C7-1",
            "uniprot_ac": "A0A0G2K2C7",
            "uniprot_id": "A0A0G2K2C7_RAT",
            "refseq_ac": "NP_001421196",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ubiquitinyl hydrolase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "probable ubiquitin carboxyl-terminal hydrolase FAF-X isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "probable ubiquitin carboxyl-terminal hydrolase FAF-X",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin specific peptidase 9, X chromosome",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Usp9x",
                    "type": "recommended"
                },
                {
                    "name": "RGD1560056",
                    "type": "synonym"
                },
                {
                    "name": "Usp9x",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K2C7-1",
            "evidence": [
                {
                    "id": "0112026",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112026"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A1B0GWT2-1",
            "uniprot_ac": "A0A1B0GWT2",
            "uniprot_id": "A0A1B0GWT2_RAT",
            "refseq_ac": "XP_038956586",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ubiquitinyl hydrolase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin specific peptidase 9, Y-linked isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Usp9y",
                    "type": "recommended"
                },
                {
                    "name": "Usp9y",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A1B0GWT2-1",
            "evidence": [
                {
                    "id": "0112026",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112026"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P55824-1",
            "uniprot_ac": "P55824",
            "uniprot_id": "FAF_DROME",
            "refseq_ac": "NP_524612",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitinyl hydrolase FAF",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "CG1945-PA",
                    "type": "synonym"
                },
                {
                    "name": "Deubiquitinating enzyme FAF",
                    "type": "synonym"
                },
                {
                    "name": "Fat facets",
                    "type": "synonym"
                },
                {
                    "name": "Fat-Facets",
                    "type": "synonym"
                },
                {
                    "name": "Protein fat facets",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin thioesterase FAF",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-specific-processing protease FAF",
                    "type": "synonym"
                },
                {
                    "name": "faf-PA",
                    "type": "synonym"
                },
                {
                    "name": "fat facets, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "faf",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA.LD22582",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:LD22582",
                    "type": "synonym"
                },
                {
                    "name": "CG1945",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1945",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1945",
                    "type": "synonym"
                },
                {
                    "name": "FAF",
                    "type": "synonym"
                },
                {
                    "name": "Faf",
                    "type": "synonym"
                },
                {
                    "name": "Fat",
                    "type": "synonym"
                },
                {
                    "name": "P55824",
                    "type": "synonym"
                },
                {
                    "name": "USPX",
                    "type": "synonym"
                },
                {
                    "name": "faf",
                    "type": "synonym"
                }
            ],
            "record_id": "P55824-1",
            "evidence": [
                {
                    "id": "0112026",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112026"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112026"
}