{
    "disease_id": "DOID:0112022",
    "recommended_name": {
        "id": "DOID:0112022",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112022",
        "name": "non-syndromic X-linked intellectual disability 21",
        "description": "A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has_material_basis_in hemizygous mutation in the IL1RAPL1 gene on chromosome Xp21.3-p21.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112022",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112022",
            "name": "MRX21",
            "description": ""
        },
        {
            "id": "DOID:0112022",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112022",
            "name": "MRX34",
            "description": ""
        },
        {
            "id": "DOID:0112022",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112022",
            "name": "X-linked mental retardation 21",
            "description": ""
        },
        {
            "id": "DOID:0112022",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112022",
            "name": "X-linked mental retardation 21/34",
            "description": ""
        },
        {
            "id": "DOID:0112022",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112022",
            "name": "X-linked mental retardation 34",
            "description": ""
        },
        {
            "id": "MONDO:0010256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010256",
            "name": "intellectual disability, X-linked 21",
            "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the IL1RAPL1 gene."
        },
        {
            "id": "MONDO:0010256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010256",
            "name": "IL1RAPL1 non-syndromic X-linked intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010256",
            "name": "intellectual developmental disorder, X-linked 21, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010256",
            "name": "intellectual disability, X-linked 21",
            "description": ""
        },
        {
            "id": "MONDO:0010256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010256",
            "name": "intellectual disability, X-linked type 21",
            "description": ""
        },
        {
            "id": "MONDO:0010256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010256",
            "name": "mental retardation, X-linked type 21",
            "description": ""
        },
        {
            "id": "MONDO:0010256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010256",
            "name": "non-syndromic X-linked intellectual disability caused by mutation in IL1RAPL1",
            "description": ""
        },
        {
            "id": "MONDO:0010256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010256",
            "name": "MRX21",
            "description": ""
        },
        {
            "id": "MONDO:0010256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010256",
            "name": "mental retardation, X-linked 21",
            "description": ""
        },
        {
            "id": "MONDO:0010256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010256",
            "name": "mental retardation, X-linked 34",
            "description": ""
        },
        {
            "id": "MIM:300143",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300143",
            "name": "Intellectual developmental disorder, X-linked 21",
            "description": "Intellectual developmental disorder, X-linked 21"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112022"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112022",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112022",
            "categories": []
        },
        {
            "id": "MONDO:0010256",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010256",
            "categories": []
        },
        {
            "id": "MIM:300143",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300143",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B6ZK77-1",
            "uniprot_ac": "B6ZK77",
            "uniprot_id": "IRL1B_DANRE",
            "refseq_ac": "NP_001136054",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-1 receptor accessory protein-like 1-B",
                    "type": "recommended"
                },
                {
                    "name": "3.2.2.6",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-1 receptor accessory protein-like 1-B precursor",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-1 receptor accessory protein-like 1-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "il1rapl1b",
                    "type": "recommended"
                },
                {
                    "name": "il1rapl1b",
                    "type": "synonym"
                }
            ],
            "record_id": "B6ZK77-1",
            "evidence": [
                {
                    "id": "0112022",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112022"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B6ZK76-1",
            "uniprot_ac": "B6ZK76",
            "uniprot_id": "IRL1A_DANRE",
            "refseq_ac": "NP_001071044",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-1 receptor accessory protein-like 1-A",
                    "type": "recommended"
                },
                {
                    "name": "3.2.2.6",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-1 receptor accessory protein-like 1-A precursor",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-1 receptor accessory protein-like 1-A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "il1rapl1a",
                    "type": "recommended"
                },
                {
                    "name": "fi18g04",
                    "type": "synonym"
                },
                {
                    "name": "il1rapl1a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi18g04",
                    "type": "synonym"
                },
                {
                    "name": "zgc:152866",
                    "type": "synonym"
                }
            ],
            "record_id": "B6ZK76-1",
            "evidence": [
                {
                    "id": "0112022",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112022"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P59823-1",
            "uniprot_ac": "P59823",
            "uniprot_id": "IRPL1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-1 receptor accessory protein-like 1",
                    "type": "recommended"
                },
                {
                    "name": "3.2.2.6",
                    "type": "synonym"
                },
                {
                    "name": "IL-1-RAPL-1",
                    "type": "synonym"
                },
                {
                    "name": "IL-1RAPL-1",
                    "type": "synonym"
                },
                {
                    "name": "IL1RAPL-1",
                    "type": "synonym"
                },
                {
                    "name": "X-linked interleukin-1 receptor accessory protein-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il1rapl1",
                    "type": "recommended"
                }
            ],
            "record_id": "P59823-1",
            "evidence": [
                {
                    "id": "0112022",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112022"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NZN1-1",
            "uniprot_ac": "Q9NZN1",
            "uniprot_id": "IRPL1_HUMAN",
            "refseq_ac": "NP_055086",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-1 receptor accessory protein-like 1",
                    "type": "recommended"
                },
                {
                    "name": "3.2.2.6",
                    "type": "synonym"
                },
                {
                    "name": "IL-1-RAPL-1",
                    "type": "synonym"
                },
                {
                    "name": "IL-1RAPL-1",
                    "type": "synonym"
                },
                {
                    "name": "IL1RAPL-1",
                    "type": "synonym"
                },
                {
                    "name": "Oligophrenin-4",
                    "type": "synonym"
                },
                {
                    "name": "TIGIRR-2",
                    "type": "synonym"
                },
                {
                    "name": "Three immunoglobulin domain-containing IL-1 receptor-related 2",
                    "type": "synonym"
                },
                {
                    "name": "X-linked interleukin-1 receptor accessory protein-like 1",
                    "type": "synonym"
                },
                {
                    "name": "interleukin 1 receptor-8",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-1 receptor accessory protein-like 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "oligophrenin-4",
                    "type": "synonym"
                },
                {
                    "name": "three immunoglobulin domain-containing IL-1 receptor-related 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IL1RAPL1",
                    "type": "recommended"
                },
                {
                    "name": "IL-1-RAPL-1",
                    "type": "synonym"
                },
                {
                    "name": "IL-1RAPL-1",
                    "type": "synonym"
                },
                {
                    "name": "IL1R8",
                    "type": "synonym"
                },
                {
                    "name": "IL1RAPL-1",
                    "type": "synonym"
                },
                {
                    "name": "IL1RAPL1",
                    "type": "synonym"
                },
                {
                    "name": "IL1RAPL",
                    "type": "synonym"
                },
                {
                    "name": "MRX10",
                    "type": "synonym"
                },
                {
                    "name": "MRX21",
                    "type": "synonym"
                },
                {
                    "name": "MRX34",
                    "type": "synonym"
                },
                {
                    "name": "OPHN4",
                    "type": "synonym"
                },
                {
                    "name": "TIGIRR-2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NZN1-1",
            "evidence": [
                {
                    "id": "300143",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300143"
                },
                {
                    "id": "0112022",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112022"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P59824-1",
            "uniprot_ac": "P59824",
            "uniprot_id": "IRPL1_RAT",
            "refseq_ac": "NP_808796",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-1 receptor accessory protein-like 1",
                    "type": "recommended"
                },
                {
                    "name": "3.2.2.6",
                    "type": "synonym"
                },
                {
                    "name": "IL-1-RAPL-1",
                    "type": "synonym"
                },
                {
                    "name": "IL-1RAPL-1",
                    "type": "synonym"
                },
                {
                    "name": "IL1RAPL-1",
                    "type": "synonym"
                },
                {
                    "name": "X-linked interleukin-1 receptor accessory protein-like 1",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-1 receptor accessory protein-like 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il1rapl1",
                    "type": "recommended"
                },
                {
                    "name": "Il1rapl1",
                    "type": "synonym"
                },
                {
                    "name": "Il1rapl",
                    "type": "synonym"
                }
            ],
            "record_id": "P59824-1",
            "evidence": [
                {
                    "id": "0112022",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112022"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112022"
}