{
    "disease_id": "DOID:0112036",
    "recommended_name": {
        "id": "DOID:0112036",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112036",
        "name": "non-syndromic X-linked intellectual disability 105",
        "description": "A non-syndromic X-linked intellectual disability characterized by borderline to moderate intellectual disability, variable poor or absent speech, and behavioral problems that has_material_basis_in hemizygous mutation in the USP27X gene on chromosome Xp11.23."
    },
    "synonyms": [
        {
            "id": "DOID:0112036",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112036",
            "name": "MRX105",
            "description": ""
        },
        {
            "id": "DOID:0112036",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112036",
            "name": "X-linked mental retardation 105",
            "description": ""
        },
        {
            "id": "MONDO:0010510",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010510",
            "name": "intellectual disability, X-linked 105",
            "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP27X gene."
        },
        {
            "id": "MONDO:0010510",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010510",
            "name": "MRX105",
            "description": ""
        },
        {
            "id": "MONDO:0010510",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010510",
            "name": "USP27X non-syndromic X-linked intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010510",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010510",
            "name": "intellectual developmental disorder, X-linked 105, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010510",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010510",
            "name": "intellectual disability, X-linked 105",
            "description": ""
        },
        {
            "id": "MONDO:0010510",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010510",
            "name": "intellectual disability, X-linked type 105",
            "description": ""
        },
        {
            "id": "MONDO:0010510",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010510",
            "name": "mental retardation, X-linked 105",
            "description": ""
        },
        {
            "id": "MONDO:0010510",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010510",
            "name": "mental retardation, X-linked type 105",
            "description": ""
        },
        {
            "id": "MONDO:0010510",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010510",
            "name": "non-syndromic X-linked intellectual disability caused by mutation in USP27X",
            "description": ""
        },
        {
            "id": "MIM:300984",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300984",
            "name": "Intellectual developmental disorder, X-linked 105",
            "description": "Intellectual developmental disorder, X-linked 105"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112036"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112036",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112036",
            "categories": []
        },
        {
            "id": "MONDO:0010510",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010510",
            "categories": []
        },
        {
            "id": "MIM:300984",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300984",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A6H8I0-1",
            "uniprot_ac": "A6H8I0",
            "uniprot_id": "UBP22_DANRE",
            "refseq_ac": "NP_001428620",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin carboxyl-terminal hydrolase 22",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "Deubiquitinating enzyme 22",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin thioesterase 22",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-specific-processing protease 22",
                    "type": "synonym"
                },
                {
                    "name": "deubiquitinating enzyme 22",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase 22 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase 22",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin thioesterase 22",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin thiolesterase 22",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-specific-processing protease 22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "usp22",
                    "type": "recommended"
                },
                {
                    "name": "usp22",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136342",
                    "type": "synonym"
                }
            ],
            "record_id": "A6H8I0-1",
            "evidence": [
                {
                    "id": "0112036",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112036"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CEG8-1",
            "uniprot_ac": "Q8CEG8",
            "uniprot_id": "UBP27_MOUSE",
            "refseq_ac": "NP_062334",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin carboxyl-terminal hydrolase 27",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "Deubiquitinating enzyme 27",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin thioesterase 27",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-specific-processing protease 27",
                    "type": "synonym"
                },
                {
                    "name": "X-linked ubiquitin carboxyl-terminal hydrolase 27",
                    "type": "synonym"
                },
                {
                    "name": "X-linked ubiquitin thioesterase 27",
                    "type": "synonym"
                },
                {
                    "name": "deubiquitinating enzyme 27",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase 27",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin specific protease 27, X chromosome",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin thiolesterase 27",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-specific-processing protease 27",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Usp27x",
                    "type": "recommended"
                },
                {
                    "name": "Sfc11",
                    "type": "synonym"
                },
                {
                    "name": "Usp27x",
                    "type": "synonym"
                },
                {
                    "name": "Usp27",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CEG8-1",
            "evidence": [
                {
                    "id": "0112036",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112036"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A6NNY8-1",
            "uniprot_ac": "A6NNY8",
            "uniprot_id": "UBP27_HUMAN",
            "refseq_ac": "NP_001138545",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin carboxyl-terminal hydrolase 27",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "Deubiquitinating enzyme 27",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin carboxyl-terminal hydrolase 22-like",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin thioesterase 27",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-specific-processing protease 27",
                    "type": "synonym"
                },
                {
                    "name": "X-linked ubiquitin carboxyl-terminal hydrolase 27",
                    "type": "synonym"
                },
                {
                    "name": "deubiquitinating enzyme 27",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase 27",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin specific protease 27, X chromosome",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin thioesterase 27",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-specific-processing protease 27",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "USP27X",
                    "type": "recommended"
                },
                {
                    "name": "MRX105",
                    "type": "synonym"
                },
                {
                    "name": "USP22L",
                    "type": "synonym"
                },
                {
                    "name": "USP27X",
                    "type": "synonym"
                },
                {
                    "name": "USP27",
                    "type": "synonym"
                },
                {
                    "name": "XLID105",
                    "type": "synonym"
                }
            ],
            "record_id": "A6NNY8-1",
            "evidence": [
                {
                    "id": "300984",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300984"
                },
                {
                    "id": "0112036",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112036"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50102-1",
            "uniprot_ac": "P50102",
            "uniprot_id": "UBP8_YEAST",
            "refseq_ac": "NP_013950",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin carboxyl-terminal hydrolase 8",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "Deubiquitinating enzyme 8",
                    "type": "synonym"
                },
                {
                    "name": "SAGA complex subunit UBP8",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin thioesterase 8",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-specific-processing protease 8",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-specific protease UBP8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UBP8",
                    "type": "recommended"
                },
                {
                    "name": "UBP8",
                    "type": "synonym"
                },
                {
                    "name": "YM9959.05",
                    "type": "synonym"
                }
            ],
            "record_id": "P50102-1",
            "evidence": [
                {
                    "id": "0112036",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112036"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZGB0-1",
            "uniprot_ac": "D3ZGB0",
            "uniprot_id": "D3ZGB0_RAT",
            "refseq_ac": "NP_001388057",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin carboxyl-terminal hydrolase",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase 27",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin specific peptidase 27, X chromosome",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin specific peptidase 27, X-linked, pseudogene 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Usp27x",
                    "type": "recommended"
                },
                {
                    "name": "RGD1564628",
                    "type": "synonym"
                },
                {
                    "name": "Usp27x-ps1",
                    "type": "synonym"
                },
                {
                    "name": "Usp27x",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZGB0-1",
            "evidence": [
                {
                    "id": "0112036",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112036"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VVR1-1",
            "uniprot_ac": "Q9VVR1",
            "uniprot_id": "NOT_DROME",
            "refseq_ac": "NP_001287106",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin carboxyl-terminal hydrolase nonstop",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "CG4166-PC",
                    "type": "synonym"
                },
                {
                    "name": "Deubiquitinating enzyme nonstop",
                    "type": "synonym"
                },
                {
                    "name": "Non-stop",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin thioesterase nonstop",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-specific-processing protease nonstop",
                    "type": "synonym"
                },
                {
                    "name": "non-stop, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "nonstop",
                    "type": "synonym"
                },
                {
                    "name": "not-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "not",
                    "type": "recommended"
                },
                {
                    "name": "CG4166",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4166",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4166",
                    "type": "synonym"
                },
                {
                    "name": "NOT",
                    "type": "synonym"
                },
                {
                    "name": "Non-stop",
                    "type": "synonym"
                },
                {
                    "name": "Nonstop",
                    "type": "synonym"
                },
                {
                    "name": "Not",
                    "type": "synonym"
                },
                {
                    "name": "Q9VVR1",
                    "type": "synonym"
                },
                {
                    "name": "UBP8",
                    "type": "synonym"
                },
                {
                    "name": "USP22",
                    "type": "synonym"
                },
                {
                    "name": "Upb8",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0257455.9",
                    "type": "synonym"
                },
                {
                    "name": "dNonStop",
                    "type": "synonym"
                },
                {
                    "name": "dNonstop",
                    "type": "synonym"
                },
                {
                    "name": "i155",
                    "type": "synonym"
                },
                {
                    "name": "l(3)02069",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j9A6",
                    "type": "synonym"
                },
                {
                    "name": "nonstop",
                    "type": "synonym"
                },
                {
                    "name": "not",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VVR1-1",
            "evidence": [
                {
                    "id": "0112036",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112036"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112036"
}