{
    "disease_id": "DOID:0112019",
    "recommended_name": {
        "id": "DOID:0112019",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112019",
        "name": "non-syndromic X-linked intellectual disability 19",
        "description": "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous or heterozygous mutation in the RPS6KA3 gene on chromosome Xp22.12."
    },
    "synonyms": [
        {
            "id": "DOID:0112019",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112019",
            "name": "MRX19",
            "description": ""
        },
        {
            "id": "DOID:0112019",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112019",
            "name": "X-linked mental retardation 19",
            "description": ""
        },
        {
            "id": "MONDO:0010447",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010447",
            "name": "intellectual disability, X-linked 19",
            "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RPS6KA3 gene."
        },
        {
            "id": "MONDO:0010447",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010447",
            "name": "RPS6KA3 non-syndromic X-linked intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010447",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010447",
            "name": "intellectual developmental disorder, X-linked 19, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010447",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010447",
            "name": "intellectual disability, X-linked 19",
            "description": ""
        },
        {
            "id": "MONDO:0010447",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010447",
            "name": "intellectual disability, X-linked type 19",
            "description": ""
        },
        {
            "id": "MONDO:0010447",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010447",
            "name": "mental retardation, X-linked type 19",
            "description": ""
        },
        {
            "id": "MONDO:0010447",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010447",
            "name": "non-syndromic X-linked intellectual disability caused by mutation in RPS6KA3",
            "description": ""
        },
        {
            "id": "MONDO:0010447",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010447",
            "name": "MRX19",
            "description": ""
        },
        {
            "id": "MONDO:0010447",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010447",
            "name": "mental retardation, X-linked 19",
            "description": ""
        },
        {
            "id": "MIM:300844",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300844",
            "name": "Intellectual developmental disorder, X-linked 19",
            "description": "Intellectual developmental disorder, X-linked 19"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112019"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112019",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112019",
            "categories": []
        },
        {
            "id": "MONDO:0010447",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010447",
            "categories": []
        },
        {
            "id": "MIM:300844",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300844",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AP68-1",
            "uniprot_ac": "A0A8M3AP68",
            "uniprot_id": "A0A8M3AP68_DANRE",
            "refseq_ac": "XP_009295647",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribosomal protein S6 kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S6 kinase alpha-3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rps6ka3b",
                    "type": "recommended"
                },
                {
                    "name": "rps6ka3b",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158386",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AP68-1",
            "evidence": [
                {
                    "id": "0112019",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112019"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0R4ID09-1",
            "uniprot_ac": "A0A0R4ID09",
            "uniprot_id": "A0A0R4ID09_DANRE",
            "refseq_ac": "XP_005165175",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribosomal protein S6 kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S6 kinase alpha-1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rps6ka3a",
                    "type": "recommended"
                },
                {
                    "name": "id:ibd1103",
                    "type": "synonym"
                },
                {
                    "name": "rps6ka3a",
                    "type": "synonym"
                },
                {
                    "name": "rps6ka3",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-114c12.12",
                    "type": "synonym"
                },
                {
                    "name": "wu:fk86e02",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56006",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4ID09-1",
            "evidence": [
                {
                    "id": "0112019",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112019"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18654-1",
            "uniprot_ac": "P18654",
            "uniprot_id": "KS6A3_MOUSE",
            "refseq_ac": "NP_683747",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribosomal protein S6 kinase alpha-3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "90 kDa ribosomal protein S6 kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "MAP kinase-activated protein kinase 1b",
                    "type": "synonym"
                },
                {
                    "name": "MAPK-activated protein kinase 1b",
                    "type": "synonym"
                },
                {
                    "name": "MAPKAP kinase 1b",
                    "type": "synonym"
                },
                {
                    "name": "MAPKAPK-1b",
                    "type": "synonym"
                },
                {
                    "name": "RSK-2",
                    "type": "synonym"
                },
                {
                    "name": "Ribosomal S6 kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "S6K-alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "p90-RSK 3",
                    "type": "synonym"
                },
                {
                    "name": "p90RSK3",
                    "type": "synonym"
                },
                {
                    "name": "pp90RSK2",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S6 kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S6 kinase alpha-3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S6 kinase alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S6 kinase polypeptide 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rps6ka3",
                    "type": "recommended"
                },
                {
                    "name": "MAPKAPK-1b",
                    "type": "synonym"
                },
                {
                    "name": "MPK-9",
                    "type": "synonym"
                },
                {
                    "name": "Mapkapk1b",
                    "type": "synonym"
                },
                {
                    "name": "Rps6ka-rs1",
                    "type": "synonym"
                },
                {
                    "name": "Rps6ka3",
                    "type": "synonym"
                },
                {
                    "name": "Rsk2",
                    "type": "synonym"
                },
                {
                    "name": "S6K-alpha3",
                    "type": "synonym"
                },
                {
                    "name": "p90RSK3",
                    "type": "synonym"
                },
                {
                    "name": "pp90RSK2",
                    "type": "synonym"
                }
            ],
            "record_id": "P18654-1",
            "evidence": [
                {
                    "id": "0112019",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112019"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51812-1",
            "uniprot_ac": "P51812",
            "uniprot_id": "KS6A3_HUMAN",
            "refseq_ac": "NP_004577",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribosomal protein S6 kinase alpha-3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "90 kDa ribosomal protein S6 kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "ISPK-1",
                    "type": "synonym"
                },
                {
                    "name": "Insulin-stimulated protein kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "MAP kinase-activated protein kinase 1b",
                    "type": "synonym"
                },
                {
                    "name": "MAPK-activated protein kinase 1b",
                    "type": "synonym"
                },
                {
                    "name": "MAPKAP kinase 1b",
                    "type": "synonym"
                },
                {
                    "name": "MAPKAPK-1b",
                    "type": "synonym"
                },
                {
                    "name": "RSK-2",
                    "type": "synonym"
                },
                {
                    "name": "Ribosomal S6 kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "S6K-alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "insulin-stimulated protein kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "p90-RSK 3",
                    "type": "synonym"
                },
                {
                    "name": "p90RSK3",
                    "type": "synonym"
                },
                {
                    "name": "pp90RSK2",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal S6 kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S6 kinase alpha-3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S6 kinase alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S6 kinase, 90kDa, polypeptide 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS6KA3",
                    "type": "recommended"
                },
                {
                    "name": "CLS",
                    "type": "synonym"
                },
                {
                    "name": "HU-3",
                    "type": "synonym"
                },
                {
                    "name": "ISPK-1",
                    "type": "synonym"
                },
                {
                    "name": "ISPK1",
                    "type": "synonym"
                },
                {
                    "name": "MAPKAPK1B",
                    "type": "synonym"
                },
                {
                    "name": "MRX19",
                    "type": "synonym"
                },
                {
                    "name": "RPS6KA3",
                    "type": "synonym"
                },
                {
                    "name": "RSK2",
                    "type": "synonym"
                },
                {
                    "name": "RSK",
                    "type": "synonym"
                },
                {
                    "name": "S6K-alpha3",
                    "type": "synonym"
                },
                {
                    "name": "XLID19",
                    "type": "synonym"
                },
                {
                    "name": "p90-RSK2",
                    "type": "synonym"
                },
                {
                    "name": "pp90RSK2",
                    "type": "synonym"
                }
            ],
            "record_id": "P51812-1",
            "evidence": [
                {
                    "id": "300844",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300844"
                },
                {
                    "id": "0112019",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112019"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38070-1",
            "uniprot_ac": "P38070",
            "uniprot_id": "YPK3_YEAST",
            "refseq_ac": "NP_009584",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase YPK3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Ribosomal S6 kinase homolog YPK3",
                    "type": "synonym"
                },
                {
                    "name": "S6K homolog YPK3",
                    "type": "synonym"
                },
                {
                    "name": "putative protein kinase YPK3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YPK3",
                    "type": "recommended"
                },
                {
                    "name": "YBR0312",
                    "type": "synonym"
                },
                {
                    "name": "YPK3",
                    "type": "synonym"
                }
            ],
            "record_id": "P38070-1",
            "evidence": [
                {
                    "id": "0112019",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112019"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z8E0-1",
            "uniprot_ac": "D3Z8E0",
            "uniprot_id": "D3Z8E0_RAT",
            "refseq_ac": "NP_001178933",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribosomal protein S6 kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S6 kinase alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S6 kinase polypeptide 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rps6ka3",
                    "type": "recommended"
                },
                {
                    "name": "RGD1563860",
                    "type": "synonym"
                },
                {
                    "name": "Rps6ka3",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z8E0-1",
            "evidence": [
                {
                    "id": "0112019",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112019"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VR61-1",
            "uniprot_ac": "Q9VR61",
            "uniprot_id": "Q9VR61_DROME",
            "refseq_ac": "NP_001259779",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "CG17596-PB",
                    "type": "synonym"
                },
                {
                    "name": "RPS6-protein kinase-II",
                    "type": "synonym"
                },
                {
                    "name": "Ribosomal-S6-kinase",
                    "type": "synonym"
                },
                {
                    "name": "S6 kinase II",
                    "type": "synonym"
                },
                {
                    "name": "S6kII-PB",
                    "type": "synonym"
                },
                {
                    "name": "ignorant",
                    "type": "synonym"
                },
                {
                    "name": "p90 ribosomal S6 kinase",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S6 kinase II, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "S6kII",
                    "type": "recommended"
                },
                {
                    "name": "CG17596",
                    "type": "synonym"
                },
                {
                    "name": "D-RSK",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17596",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17596",
                    "type": "synonym"
                },
                {
                    "name": "RSK",
                    "type": "synonym"
                },
                {
                    "name": "Rsk",
                    "type": "synonym"
                },
                {
                    "name": "S6KII",
                    "type": "synonym"
                },
                {
                    "name": "S6kII",
                    "type": "synonym"
                },
                {
                    "name": "dRSK",
                    "type": "synonym"
                },
                {
                    "name": "dRsk",
                    "type": "synonym"
                },
                {
                    "name": "ign",
                    "type": "synonym"
                },
                {
                    "name": "rsk2",
                    "type": "synonym"
                },
                {
                    "name": "rsk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VR61-1",
            "evidence": [
                {
                    "id": "0112019",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112019"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112019"
}