{
    "disease_id": "DOID:0112056",
    "recommended_name": {
        "id": "DOID:0112056",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112056",
        "name": "X-linked intellectual disability-short stature-overweight syndrome",
        "description": "A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in the THOC2 gene on chromosome Xq25."
    },
    "synonyms": [
        {
            "id": "DOID:0112056",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112056",
            "name": "MRX12",
            "description": ""
        },
        {
            "id": "DOID:0112056",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112056",
            "name": "MRX35",
            "description": ""
        },
        {
            "id": "DOID:0112056",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112056",
            "name": "X-linked mental retardation 12",
            "description": ""
        },
        {
            "id": "DOID:0112056",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112056",
            "name": "X-linked mental retardation 35",
            "description": ""
        },
        {
            "id": "DOID:0112056",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112056",
            "name": "Kumar type of X-linked syndromic intellectual developmental disorder",
            "description": ""
        },
        {
            "id": "MONDO:0010496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010496",
            "name": "X-linked intellectual disability-short stature-overweight syndrome",
            "description": "X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted."
        },
        {
            "id": "MONDO:0010496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010496",
            "name": "intellectual developmental disorder, X-linked 12, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010496",
            "name": "intellectual disability, X-linked type 12",
            "description": ""
        },
        {
            "id": "MONDO:0010496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010496",
            "name": "mental retardation, X-linked type 12",
            "description": ""
        },
        {
            "id": "MONDO:0010496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010496",
            "name": "MRX12",
            "description": ""
        },
        {
            "id": "MONDO:0010496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010496",
            "name": "intellectual disability, X-linked 12",
            "description": ""
        },
        {
            "id": "MONDO:0010496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010496",
            "name": "mental retardation, X-linked 12",
            "description": ""
        },
        {
            "id": "MONDO:0010496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010496",
            "name": "mental retardation, X-linked 35",
            "description": ""
        },
        {
            "id": "MIM:300957",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300957",
            "name": "Intellectual developmental disorder, X-linked, syndromic, Kumar type",
            "description": "Intellectual developmental disorder, X-linked, syndromic, Kumar type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112056"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112056",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112056",
            "categories": []
        },
        {
            "id": "MONDO:0010496",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010496",
            "categories": []
        },
        {
            "id": "MIM:300957",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300957",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QXF4-1",
            "uniprot_ac": "F1QXF4",
            "uniprot_id": "F1QXF4_DANRE",
            "refseq_ac": "XP_005157191",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "THO complex subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "THO complex subunit 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "thoc2",
                    "type": "recommended"
                },
                {
                    "name": "THO",
                    "type": "synonym"
                },
                {
                    "name": "Tho2",
                    "type": "synonym"
                },
                {
                    "name": "fb73e08",
                    "type": "synonym"
                },
                {
                    "name": "fd21d11",
                    "type": "synonym"
                },
                {
                    "name": "si:bz1o18.2",
                    "type": "synonym"
                },
                {
                    "name": "thoc2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb73e08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd21d11",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QXF4-1",
            "evidence": [
                {
                    "id": "0112056",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112056"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B1AZI6-1",
            "uniprot_ac": "B1AZI6",
            "uniprot_id": "THOC2_MOUSE",
            "refseq_ac": "NP_001028594",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "THO complex subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "THO complex subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Tho2",
                    "type": "synonym"
                },
                {
                    "name": "transcription/export complex subunit 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Thoc2",
                    "type": "recommended"
                },
                {
                    "name": "6330441O12Rik",
                    "type": "synonym"
                },
                {
                    "name": "D130005M13Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gm1139",
                    "type": "synonym"
                },
                {
                    "name": "Gm1793",
                    "type": "synonym"
                },
                {
                    "name": "Tho2",
                    "type": "synonym"
                },
                {
                    "name": "Thoc2",
                    "type": "synonym"
                }
            ],
            "record_id": "B1AZI6-1",
            "evidence": [
                {
                    "id": "0112056",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112056"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9Q5E2-1",
            "uniprot_ac": "E9Q5E2",
            "uniprot_id": "E9Q5E2_MOUSE",
            "refseq_ac": "NP_001160053",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "THO complex subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "uncharacterized protein LOC100042165",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Thoc2l",
                    "type": "recommended"
                },
                {
                    "name": "1110004B06Rik",
                    "type": "synonym"
                },
                {
                    "name": "AI451450",
                    "type": "synonym"
                },
                {
                    "name": "BC005561",
                    "type": "synonym"
                },
                {
                    "name": "D930016D06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gm3179",
                    "type": "synonym"
                },
                {
                    "name": "Thoc2l",
                    "type": "synonym"
                }
            ],
            "record_id": "E9Q5E2-1",
            "evidence": [
                {
                    "id": "0112056",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112056"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NI27-1",
            "uniprot_ac": "Q8NI27",
            "uniprot_id": "THOC2_HUMAN",
            "refseq_ac": "NP_001075019",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "THO complex subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "THO complex 2",
                    "type": "synonym"
                },
                {
                    "name": "THO complex subunit 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "Tho2",
                    "type": "synonym"
                },
                {
                    "name": "hTREX120",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "THOC2",
                    "type": "recommended"
                },
                {
                    "name": "AMC7",
                    "type": "synonym"
                },
                {
                    "name": "CXorf3",
                    "type": "synonym"
                },
                {
                    "name": "MRX12",
                    "type": "synonym"
                },
                {
                    "name": "MRX35",
                    "type": "synonym"
                },
                {
                    "name": "THO2",
                    "type": "synonym"
                },
                {
                    "name": "THOC2",
                    "type": "synonym"
                },
                {
                    "name": "XLID12",
                    "type": "synonym"
                },
                {
                    "name": "dJ506G2.1",
                    "type": "synonym"
                },
                {
                    "name": "hTREX120",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NI27-1",
            "evidence": [
                {
                    "id": "300957",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300957"
                },
                {
                    "id": "0112056",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112056"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53552-1",
            "uniprot_ac": "P53552",
            "uniprot_id": "THO2_YEAST",
            "refseq_ac": "NP_014260",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "THO complex subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "Low dye-binding protein 5",
                    "type": "synonym"
                },
                {
                    "name": "THO complex subunit RLR1",
                    "type": "synonym"
                },
                {
                    "name": "Tho2p",
                    "type": "synonym"
                },
                {
                    "name": "Zinc-regulated gene 13 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "THO2",
                    "type": "recommended"
                },
                {
                    "name": "LDB5",
                    "type": "synonym"
                },
                {
                    "name": "N1209",
                    "type": "synonym"
                },
                {
                    "name": "N1835",
                    "type": "synonym"
                },
                {
                    "name": "RLR1",
                    "type": "synonym"
                },
                {
                    "name": "THO2",
                    "type": "synonym"
                },
                {
                    "name": "ZRG13",
                    "type": "synonym"
                }
            ],
            "record_id": "P53552-1",
            "evidence": [
                {
                    "id": "0112056",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112056"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LZ00-1",
            "uniprot_ac": "F1LZ00",
            "uniprot_id": "F1LZ00_RAT",
            "refseq_ac": "NP_001366028",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "THO complex subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "similar to THO complex subunit 2 (Tho2)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Thoc2l",
                    "type": "recommended"
                },
                {
                    "name": "LOC679894",
                    "type": "synonym"
                },
                {
                    "name": "Pkd2",
                    "type": "synonym"
                },
                {
                    "name": "Thoc2l",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LZ00-1",
            "evidence": [
                {
                    "id": "0112056",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112056"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K8V3-1",
            "uniprot_ac": "A0A0G2K8V3",
            "uniprot_id": "A0A0G2K8V3_RAT",
            "refseq_ac": "XP_006257566",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "THO complex subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "THO complex subunit 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Thoc2",
                    "type": "recommended"
                },
                {
                    "name": "RGD1561623",
                    "type": "synonym"
                },
                {
                    "name": "Thoc2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K8V3-1",
            "evidence": [
                {
                    "id": "0112056",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112056"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E2QCS8-1",
            "uniprot_ac": "E2QCS8",
            "uniprot_id": "E2QCS8_DROME",
            "refseq_ac": "NP_608646",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "THO complex subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "CG31671-PB",
                    "type": "synonym"
                },
                {
                    "name": "tho2, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "tho2-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tho2",
                    "type": "recommended"
                },
                {
                    "name": "CG31671",
                    "type": "synonym"
                },
                {
                    "name": "CG4263",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31671",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31671",
                    "type": "synonym"
                },
                {
                    "name": "THO2",
                    "type": "synonym"
                },
                {
                    "name": "Tho2",
                    "type": "synonym"
                },
                {
                    "name": "Thoc2",
                    "type": "synonym"
                },
                {
                    "name": "macadamia",
                    "type": "synonym"
                },
                {
                    "name": "tho2",
                    "type": "synonym"
                }
            ],
            "record_id": "E2QCS8-1",
            "evidence": [
                {
                    "id": "0112056",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112056"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112056"
}