{
    "disease_id": "DOID:0112048",
    "recommended_name": {
        "id": "DOID:0112048",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112048",
        "name": "non-syndromic X-linked intellectual disability 101",
        "description": "A non-syndromic X-linked intellectual disability characterized by global developmental delay that has_material_basis_in hemizygous mutation in the MID2 gene on chromosome Xq22.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112048",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112048",
            "name": "MRX101",
            "description": ""
        },
        {
            "id": "DOID:0112048",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112048",
            "name": "X-linked mental retardation 101",
            "description": ""
        },
        {
            "id": "MONDO:0010489",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010489",
            "name": "intellectual disability, X-linked 101",
            "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the MID2 gene."
        },
        {
            "id": "MONDO:0010489",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010489",
            "name": "MID2 non-syndromic X-linked intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010489",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010489",
            "name": "intellectual developmental disorder, X-linked 101, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010489",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010489",
            "name": "intellectual disability, X-linked 101",
            "description": ""
        },
        {
            "id": "MONDO:0010489",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010489",
            "name": "intellectual disability, X-linked type 101",
            "description": ""
        },
        {
            "id": "MONDO:0010489",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010489",
            "name": "mental retardation, X-linked type 101",
            "description": ""
        },
        {
            "id": "MONDO:0010489",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010489",
            "name": "non-syndromic X-linked intellectual disability caused by mutation in MID2",
            "description": ""
        },
        {
            "id": "MONDO:0010489",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010489",
            "name": "MRX101",
            "description": ""
        },
        {
            "id": "MONDO:0010489",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010489",
            "name": "mental retardation, X-linked 101",
            "description": ""
        },
        {
            "id": "MIM:300928",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300928",
            "name": "Intellectual developmental disorder, X-linked 101",
            "description": "Intellectual developmental disorder, X-linked 101"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112048"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112048",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112048",
            "categories": []
        },
        {
            "id": "MONDO:0010489",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010489",
            "categories": []
        },
        {
            "id": "MIM:300928",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300928",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AHW0-1",
            "uniprot_ac": "A0A8M3AHW0",
            "uniprot_id": "A0A8M3AHW0_DANRE",
            "refseq_ac": "XP_009289348",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable E3 ubiquitin-protein ligase MID2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "probable E3 ubiquitin-protein ligase MID2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mid2",
                    "type": "recommended"
                },
                {
                    "name": "mid2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AHW0-1",
            "evidence": [
                {
                    "id": "0112048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112048"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QUS6-1",
            "uniprot_ac": "Q9QUS6",
            "uniprot_id": "TRIM1_MOUSE",
            "refseq_ac": "NP_035975",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable E3 ubiquitin-protein ligase MID2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "Midline defect 2",
                    "type": "synonym"
                },
                {
                    "name": "Midline-2",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase MID2",
                    "type": "synonym"
                },
                {
                    "name": "Tripartite motif-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "midline defect 2",
                    "type": "synonym"
                },
                {
                    "name": "probable E3 ubiquitin-protein ligase MID2 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "probable E3 ubiquitin-protein ligase MID2",
                    "type": "synonym"
                },
                {
                    "name": "tripartite motif-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mid2",
                    "type": "recommended"
                },
                {
                    "name": "FXY2",
                    "type": "synonym"
                },
                {
                    "name": "Fxy2",
                    "type": "synonym"
                },
                {
                    "name": "Mid2",
                    "type": "synonym"
                },
                {
                    "name": "Trim1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QUS6-1",
            "evidence": [
                {
                    "id": "0112048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112048"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UJV3-1",
            "uniprot_ac": "Q9UJV3",
            "uniprot_id": "TRIM1_HUMAN",
            "refseq_ac": "NP_036348",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable E3 ubiquitin-protein ligase MID2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "Midin-2",
                    "type": "synonym"
                },
                {
                    "name": "Midline defect 2",
                    "type": "synonym"
                },
                {
                    "name": "Midline-2",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 60",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase MID2",
                    "type": "synonym"
                },
                {
                    "name": "Tripartite motif-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "midin 2",
                    "type": "synonym"
                },
                {
                    "name": "midline defect 2",
                    "type": "synonym"
                },
                {
                    "name": "probable E3 ubiquitin-protein ligase MID2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "probable E3 ubiquitin-protein ligase MID2",
                    "type": "synonym"
                },
                {
                    "name": "tripartite motif protein 1",
                    "type": "synonym"
                },
                {
                    "name": "tripartite motif-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MID2",
                    "type": "recommended"
                },
                {
                    "name": "FXY2",
                    "type": "synonym"
                },
                {
                    "name": "MID2",
                    "type": "synonym"
                },
                {
                    "name": "MRX101",
                    "type": "synonym"
                },
                {
                    "name": "RNF60",
                    "type": "synonym"
                },
                {
                    "name": "TRIM1",
                    "type": "synonym"
                },
                {
                    "name": "XLID101",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UJV3-1",
            "evidence": [
                {
                    "id": "300928",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300928"
                },
                {
                    "id": "0112048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112048"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LKT0-1",
            "uniprot_ac": "A0ABK0LKT0",
            "uniprot_id": "A0ABK0LKT0_RAT",
            "refseq_ac": "NP_001421218",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "RING-type E3 ubiquitin transferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "probable E3 ubiquitin-protein ligase MID2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "probable E3 ubiquitin-protein ligase MID2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mid2",
                    "type": "recommended"
                },
                {
                    "name": "Mid2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1565674",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LKT0-1",
            "evidence": [
                {
                    "id": "0112048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112048"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112048"
}