{
    "disease_id": "DOID:0112038",
    "recommended_name": {
        "id": "DOID:0112038",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112038",
        "name": "non-syndromic X-linked intellectual disability 1",
        "description": "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11.22."
    },
    "synonyms": [
        {
            "id": "DOID:0112038",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112038",
            "name": "MRX1",
            "description": ""
        },
        {
            "id": "DOID:0112038",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112038",
            "name": "MRX18",
            "description": ""
        },
        {
            "id": "DOID:0112038",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112038",
            "name": "MRX78",
            "description": ""
        },
        {
            "id": "DOID:0112038",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112038",
            "name": "X-linked mental retardation 1",
            "description": ""
        },
        {
            "id": "DOID:0112038",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112038",
            "name": "X-linked mental retardation 1/78",
            "description": ""
        },
        {
            "id": "DOID:0112038",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112038",
            "name": "X-linked mental retardation 18",
            "description": ""
        },
        {
            "id": "DOID:0112038",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112038",
            "name": "X-linked mental retardation 78",
            "description": ""
        },
        {
            "id": "MONDO:0010656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010656",
            "name": "intellectual disability, X-linked 1",
            "description": "An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities."
        },
        {
            "id": "MONDO:0010656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010656",
            "name": "IQSEC2-related disorder",
            "description": ""
        },
        {
            "id": "MONDO:0010656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010656",
            "name": "IQSEC2-related syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010656",
            "name": "MRX",
            "description": ""
        },
        {
            "id": "MONDO:0010656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010656",
            "name": "MRX1",
            "description": ""
        },
        {
            "id": "MONDO:0010656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010656",
            "name": "MRX78",
            "description": ""
        },
        {
            "id": "MONDO:0010656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010656",
            "name": "intellectual developmental disorder, X-linked 1, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010656",
            "name": "intellectual disability, X-linked 1",
            "description": ""
        },
        {
            "id": "MONDO:0010656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010656",
            "name": "mental retardation, X-linked 1",
            "description": ""
        },
        {
            "id": "MONDO:0010656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010656",
            "name": "mental retardation, X-linked 18",
            "description": ""
        },
        {
            "id": "MONDO:0010656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010656",
            "name": "mental retardation, X-linked 78",
            "description": ""
        },
        {
            "id": "MONDO:0010656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010656",
            "name": "mental retardation, X-linked type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010656",
            "name": "IQSEC2",
            "description": ""
        },
        {
            "id": "MONDO:0010656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010656",
            "name": "IQSEC2-related epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0010656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010656",
            "name": "IQSEC2-related intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010656",
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            "description": ""
        },
        {
            "id": "MONDO:0010656",
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            "name": "X-linked intellectual disability 1/78",
            "description": ""
        },
        {
            "id": "MONDO:0010656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010656",
            "name": "X-linked intellectual disability 78",
            "description": ""
        },
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            "resource": "MIM",
            "url": "https://www.omim.org/entry/309530",
            "name": "Intellectual developmental disorder, X-linked 1",
            "description": "Intellectual developmental disorder, X-linked 1"
        }
    ],
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    ],
    "unlinked_id_list": [],
    "crossref": [
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            "id": "DOID:0112038",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112038",
            "categories": []
        },
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        },
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            "categories": []
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                }
            ],
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                    "type": "recommended"
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            ],
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                },
                {
                    "name": "etID309855.24",
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                    "id": "0112038",
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                }
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                }
            ],
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                    "name": "IQ motif and Sec7 domain 2",
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                    "name": "brefeldin A resistant Arf-guanine nucleotide exchange factor 1b",
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                {
                    "name": "Paired-like homeobox protein PEPP-1",
                    "type": "synonym"
                },
                {
                    "name": "ovary-, testis- and epididymis-expressed gene protein",
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                },
                {
                    "name": "paired-like homeobox protein PEPP-1",
                    "type": "synonym"
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                {
                    "name": "rhox homeobox family member 1",
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            ],
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                {
                    "name": "RHOXF1",
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                },
                {
                    "name": "OTEX",
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                },
                {
                    "name": "PEPP1",
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                },
                {
                    "name": "RHOXF1",
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            ],
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            "uniprot_canonical_ac": "P0C7M4-1",
            "uniprot_ac": "P0C7M4",
            "uniprot_id": "RHF2B_HUMAN",
            "refseq_ac": "NP_001093155",
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            "species": [
                {
                    "name": "Homo sapiens",
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                    "common_name": "Human",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rhox homeobox family member 2B",
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                {
                    "name": "rhox homeobox family member 2B",
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                }
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            "gene_names": [
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                {
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                {
                    "name": "Homo sapiens",
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                    "reference_species": "Homo sapiens [9606]"
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            ],
            "protein_names": [
                {
                    "name": "Homeobox protein aristaless-like 4",
                    "type": "recommended"
                },
                {
                    "name": "aristaless-like homeobox 4",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein aristaless-like 4",
                    "type": "synonym"
                },
                {
                    "name": "homeodomain transcription factor ALX4",
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                }
            ],
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                },
                {
                    "name": "ALX4",
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                {
                    "name": "CRS5",
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                },
                {
                    "name": "FND2",
                    "type": "synonym"
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                {
                    "name": "KIAA1788",
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            ],
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                    "id": "0112038",
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            ]
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            "uniprot_ac": "Q8N693",
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            "glycoprotein": "yes",
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                    "name": "Homo sapiens",
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                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Homeobox protein ESX1",
                    "type": "recommended"
                },
                {
                    "name": "ESX1-related protein",
                    "type": "synonym"
                },
                {
                    "name": "Extraembryonic, spermatogenesis, homeobox 1",
                    "type": "synonym"
                },
                {
                    "name": "extraembryonic, spermatogenesis, homeobox 1 homolog",
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                },
                {
                    "name": "homeobox protein ESX1",
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                }
            ],
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                {
                    "name": "ESX1",
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                },
                {
                    "name": "ESX1L",
                    "type": "synonym"
                },
                {
                    "name": "ESX1R",
                    "type": "synonym"
                },
                {
                    "name": "ESX1",
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                },
                {
                    "name": "ESXR1",
                    "type": "synonym"
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            ],
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                    "id": "0112038",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0112038"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112038"
}