{
    "disease_id": "DOID:0112024",
    "recommended_name": {
        "id": "DOID:0112024",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112024",
        "name": "non-syndromic X-linked intellectual disability 58",
        "description": "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and no consistent dysmorphic features that has_material_basis_in hemizygous mutation in the TSPAN7 gene on chromosome Xp11.4."
    },
    "synonyms": [
        {
            "id": "DOID:0112024",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112024",
            "name": "MRX58",
            "description": ""
        },
        {
            "id": "DOID:0112024",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112024",
            "name": "X-linked mental retardation 58",
            "description": ""
        },
        {
            "id": "MONDO:0010266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010266",
            "name": "intellectual disability, X-linked 58",
            "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the TSPAN7 gene."
        },
        {
            "id": "MONDO:0010266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010266",
            "name": "TSPAN7 non-syndromic X-linked intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010266",
            "name": "intellectual developmental disorder, X-linked 58, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010266",
            "name": "intellectual disability, X-linked 58",
            "description": ""
        },
        {
            "id": "MONDO:0010266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010266",
            "name": "intellectual disability, X-linked type 58",
            "description": ""
        },
        {
            "id": "MONDO:0010266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010266",
            "name": "mental retardation, X-linked type 58",
            "description": ""
        },
        {
            "id": "MONDO:0010266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010266",
            "name": "non-syndromic X-linked intellectual disability caused by mutation in TSPAN7",
            "description": ""
        },
        {
            "id": "MONDO:0010266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010266",
            "name": "MRX58",
            "description": ""
        },
        {
            "id": "MONDO:0010266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010266",
            "name": "mental retardation, X-linked 58",
            "description": ""
        },
        {
            "id": "MIM:300210",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300210",
            "name": "Intellectual developmental disorder, X-linked 58",
            "description": "Intellectual developmental disorder, X-linked 58"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112024"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112024",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112024",
            "categories": []
        },
        {
            "id": "MONDO:0010266",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010266",
            "categories": []
        },
        {
            "id": "MIM:300210",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300210",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0VEQ2-1",
            "uniprot_ac": "B0VEQ2",
            "uniprot_id": "B0VEQ2_DANRE",
            "refseq_ac": "NP_001124290",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetraspanin",
                    "type": "recommended"
                },
                {
                    "name": "tetraspanin 7b",
                    "type": "synonym"
                },
                {
                    "name": "tetraspanin-7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tspan7",
                    "type": "recommended"
                },
                {
                    "name": "tm4sf2b",
                    "type": "synonym"
                },
                {
                    "name": "tspan7b",
                    "type": "synonym"
                },
                {
                    "name": "tspan7",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb53h11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92829",
                    "type": "synonym"
                }
            ],
            "record_id": "B0VEQ2-1",
            "evidence": [
                {
                    "id": "0112024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112024"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62283-1",
            "uniprot_ac": "Q62283",
            "uniprot_id": "TSN7_MOUSE",
            "refseq_ac": "NP_062608",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetraspanin-7",
                    "type": "recommended"
                },
                {
                    "name": "Cell surface glycoprotein A15",
                    "type": "synonym"
                },
                {
                    "name": "PE31",
                    "type": "synonym"
                },
                {
                    "name": "TALLA homolog",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane 4 superfamily member 2",
                    "type": "synonym"
                },
                {
                    "name": "Tspan-7",
                    "type": "synonym"
                },
                {
                    "name": "cell surface glycoprotein A15",
                    "type": "synonym"
                },
                {
                    "name": "tetraspanin-7",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane 4 superfamily member 2",
                    "type": "synonym"
                },
                {
                    "name": "tspan-7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tspan7",
                    "type": "recommended"
                },
                {
                    "name": "1200014P11Rik",
                    "type": "synonym"
                },
                {
                    "name": "A15",
                    "type": "synonym"
                },
                {
                    "name": "Cd231",
                    "type": "synonym"
                },
                {
                    "name": "Mxs1",
                    "type": "synonym"
                },
                {
                    "name": "PE31",
                    "type": "synonym"
                },
                {
                    "name": "TALLA",
                    "type": "synonym"
                },
                {
                    "name": "Tm4sf2",
                    "type": "synonym"
                },
                {
                    "name": "Tspan7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62283-1",
            "evidence": [
                {
                    "id": "0112024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112024"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41732-1",
            "uniprot_ac": "P41732",
            "uniprot_id": "TSN7_HUMAN",
            "refseq_ac": "NP_004606",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetraspanin-7",
                    "type": "recommended"
                },
                {
                    "name": "CD231 antigen",
                    "type": "synonym"
                },
                {
                    "name": "Cell surface glycoprotein A15",
                    "type": "synonym"
                },
                {
                    "name": "Membrane component chromosome X surface marker 1",
                    "type": "synonym"
                },
                {
                    "name": "T-cell acute lymphoblastic leukemia associated antigen 1",
                    "type": "synonym"
                },
                {
                    "name": "T-cell acute lymphoblastic leukemia-associated antigen 1",
                    "type": "synonym"
                },
                {
                    "name": "TALLA-1",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane 4 superfamily member 2",
                    "type": "synonym"
                },
                {
                    "name": "Tspan-7",
                    "type": "synonym"
                },
                {
                    "name": "cell surface glycoprotein A15",
                    "type": "synonym"
                },
                {
                    "name": "membrane component chromosome X surface marker 1",
                    "type": "synonym"
                },
                {
                    "name": "membrane component, X chromosome, surface marker 1",
                    "type": "synonym"
                },
                {
                    "name": "tetraspanin protein",
                    "type": "synonym"
                },
                {
                    "name": "tetraspanin-7",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane 4 superfamily 2b",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane 4 superfamily member 2",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein A15",
                    "type": "synonym"
                },
                {
                    "name": "tspan-7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TSPAN7",
                    "type": "recommended"
                },
                {
                    "name": "A15",
                    "type": "synonym"
                },
                {
                    "name": "CCG-B7",
                    "type": "synonym"
                },
                {
                    "name": "CD231",
                    "type": "synonym"
                },
                {
                    "name": "DXS1692E",
                    "type": "synonym"
                },
                {
                    "name": "MRX58",
                    "type": "synonym"
                },
                {
                    "name": "MXS1",
                    "type": "synonym"
                },
                {
                    "name": "TALLA-1",
                    "type": "synonym"
                },
                {
                    "name": "TM4SF2b",
                    "type": "synonym"
                },
                {
                    "name": "TM4SF2",
                    "type": "synonym"
                },
                {
                    "name": "TSPAN7",
                    "type": "synonym"
                },
                {
                    "name": "XLID58",
                    "type": "synonym"
                }
            ],
            "record_id": "P41732-1",
            "evidence": [
                {
                    "id": "300210",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300210"
                },
                {
                    "id": "0112024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112024"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B0BNE7-1",
            "uniprot_ac": "B0BNE7",
            "uniprot_id": "B0BNE7_RAT",
            "refseq_ac": "NP_001385666",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetraspanin",
                    "type": "recommended"
                },
                {
                    "name": "Transmembrane 4, superfamily member 2 (cell surface glycoprotein A15)",
                    "type": "synonym"
                },
                {
                    "name": "neuroprotective protein 5",
                    "type": "synonym"
                },
                {
                    "name": "tetraspanin-7",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane 4 superfamily member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tspan7",
                    "type": "recommended"
                },
                {
                    "name": "A15",
                    "type": "synonym"
                },
                {
                    "name": "DXS1692E",
                    "type": "synonym"
                },
                {
                    "name": "MXS1",
                    "type": "synonym"
                },
                {
                    "name": "TALLA-1",
                    "type": "synonym"
                },
                {
                    "name": "Tm4sf2",
                    "type": "synonym"
                },
                {
                    "name": "Tspan7",
                    "type": "synonym"
                }
            ],
            "record_id": "B0BNE7-1",
            "evidence": [
                {
                    "id": "0112024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112024"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0RAB0-1",
            "uniprot_ac": "M0RAB0",
            "uniprot_id": "M0RAB0_RAT",
            "refseq_ac": "XP_038956946",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetraspanin",
                    "type": "recommended"
                },
                {
                    "name": "tetraspanin-7-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LOC102551255",
                    "type": "recommended"
                },
                {
                    "name": "LOC102551255",
                    "type": "synonym"
                }
            ],
            "record_id": "M0RAB0-1",
            "evidence": [
                {
                    "id": "0112024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112024"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VLH0-1",
            "uniprot_ac": "Q9VLH0",
            "uniprot_id": "Q9VLH0_DROME",
            "refseq_ac": "NP_001137809",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetraspanin",
                    "type": "recommended"
                },
                {
                    "name": "CG9496-PC",
                    "type": "synonym"
                },
                {
                    "name": "Tsp29Fb-PC",
                    "type": "synonym"
                },
                {
                    "name": "tetraspanin 29Fb, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tsp29Fb",
                    "type": "recommended"
                },
                {
                    "name": "CG9496",
                    "type": "synonym"
                },
                {
                    "name": "Dm.Tsp29Fb",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9496",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9496",
                    "type": "synonym"
                },
                {
                    "name": "Tsp29Fb",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:ParkEST130",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VLH0-1",
            "evidence": [
                {
                    "id": "0112024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112024"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112024"
}