{
    "disease_id": "DOID:0112051",
    "recommended_name": {
        "id": "DOID:0112051",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112051",
        "name": "non-syndromic X-linked intellectual disability 30",
        "description": "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23."
    },
    "synonyms": [
        {
            "id": "DOID:0112051",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112051",
            "name": "MRX30",
            "description": ""
        },
        {
            "id": "DOID:0112051",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112051",
            "name": "MRX47",
            "description": ""
        },
        {
            "id": "DOID:0112051",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112051",
            "name": "X-linked mental retardation 30",
            "description": ""
        },
        {
            "id": "DOID:0112051",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112051",
            "name": "X-linked mental retardation 30/47",
            "description": ""
        },
        {
            "id": "DOID:0112051",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112051",
            "name": "X-linked mental retardation 47",
            "description": ""
        },
        {
            "id": "MONDO:0010361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010361",
            "name": "intellectual disability, X-linked 30",
            "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene."
        },
        {
            "id": "MONDO:0010361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010361",
            "name": "PAK3 non-syndromic X-linked intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010361",
            "name": "intellectual developmental disorder, X-linked 30, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010361",
            "name": "intellectual disability, X-linked 30",
            "description": ""
        },
        {
            "id": "MONDO:0010361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010361",
            "name": "intellectual disability, X-linked type 30",
            "description": ""
        },
        {
            "id": "MONDO:0010361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010361",
            "name": "mental retardation, X-linked type 30",
            "description": ""
        },
        {
            "id": "MONDO:0010361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010361",
            "name": "non-syndromic X-linked intellectual disability caused by mutation in PAK3",
            "description": ""
        },
        {
            "id": "MONDO:0010361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010361",
            "name": "MRX30",
            "description": ""
        },
        {
            "id": "MONDO:0010361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010361",
            "name": "mental retardation, X-linked 30",
            "description": ""
        },
        {
            "id": "MONDO:0010361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010361",
            "name": "mental retardation, X-linked 47",
            "description": ""
        },
        {
            "id": "MIM:300558",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300558",
            "name": "Intellectual developmental disorder, X-linked 30",
            "description": "Intellectual developmental disorder, X-linked 30"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112051"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112051",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112051",
            "categories": []
        },
        {
            "id": "MONDO:0010361",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010361",
            "categories": []
        },
        {
            "id": "MIM:300558",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300558",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61036-1",
            "uniprot_ac": "Q61036",
            "uniprot_id": "PAK3_MOUSE",
            "refseq_ac": "NP_001181977",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase PAK 3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Beta-PAK",
                    "type": "synonym"
                },
                {
                    "name": "CDC42/RAC effector kinase PAK-B",
                    "type": "synonym"
                },
                {
                    "name": "PAK-3",
                    "type": "synonym"
                },
                {
                    "name": "beta-PAK",
                    "type": "synonym"
                },
                {
                    "name": "p21 protein (Cdc42/Rac)-activated kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "p21-activated kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase PAK 3 isoform C",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase PAK 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pak3",
                    "type": "recommended"
                },
                {
                    "name": "PAK-3",
                    "type": "synonym"
                },
                {
                    "name": "Pak-3",
                    "type": "synonym"
                },
                {
                    "name": "Pak3",
                    "type": "synonym"
                },
                {
                    "name": "Pak65alpha",
                    "type": "synonym"
                },
                {
                    "name": "Pak65beta",
                    "type": "synonym"
                },
                {
                    "name": "Pakb",
                    "type": "synonym"
                },
                {
                    "name": "Stk4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61036-1",
            "evidence": [
                {
                    "id": "0112051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112051"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75914-1",
            "uniprot_ac": "O75914",
            "uniprot_id": "PAK3_HUMAN",
            "refseq_ac": "NP_001121638",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase PAK 3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Beta-PAK",
                    "type": "synonym"
                },
                {
                    "name": "Oligophrenin-3",
                    "type": "synonym"
                },
                {
                    "name": "PAK-3",
                    "type": "synonym"
                },
                {
                    "name": "adriamycin resistance-associated",
                    "type": "synonym"
                },
                {
                    "name": "oligophrenin-3",
                    "type": "synonym"
                },
                {
                    "name": "p21 (CDKN1A)-activated kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "p21 protein (Cdc42/Rac)-activated kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "p21-activated kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase PAK 3 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase PAK 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PAK3",
                    "type": "recommended"
                },
                {
                    "name": "ARA",
                    "type": "synonym"
                },
                {
                    "name": "MRX30",
                    "type": "synonym"
                },
                {
                    "name": "MRX47",
                    "type": "synonym"
                },
                {
                    "name": "OPHN3",
                    "type": "synonym"
                },
                {
                    "name": "PAK-3",
                    "type": "synonym"
                },
                {
                    "name": "PAK3beta",
                    "type": "synonym"
                },
                {
                    "name": "PAK3",
                    "type": "synonym"
                },
                {
                    "name": "XLID30",
                    "type": "synonym"
                },
                {
                    "name": "bPAK",
                    "type": "synonym"
                },
                {
                    "name": "beta-PAK",
                    "type": "synonym"
                }
            ],
            "record_id": "O75914-1",
            "evidence": [
                {
                    "id": "300558",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300558"
                },
                {
                    "id": "0112051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112051"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12469-1",
            "uniprot_ac": "Q12469",
            "uniprot_id": "SKM1_YEAST",
            "refseq_ac": "NP_014528",
            "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 SKM1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase 75490 D",
                    "type": "synonym"
                },
                {
                    "name": "putative serine/threonine protein kinase SKM1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SKM1",
                    "type": "recommended"
                },
                {
                    "name": "HRA655",
                    "type": "synonym"
                },
                {
                    "name": "SKM1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12469-1",
            "evidence": [
                {
                    "id": "0112051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112051"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48562-1",
            "uniprot_ac": "P48562",
            "uniprot_id": "CLA4_YEAST",
            "refseq_ac": "NP_014101",
            "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": "Serine/threonine-protein kinase CLA4",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine protein kinase CLA4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLA4",
                    "type": "recommended"
                },
                {
                    "name": "CLA4",
                    "type": "synonym"
                },
                {
                    "name": "ERC10",
                    "type": "synonym"
                },
                {
                    "name": "N0450",
                    "type": "synonym"
                }
            ],
            "record_id": "P48562-1",
            "evidence": [
                {
                    "id": "0112051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112051"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03497-1",
            "uniprot_ac": "Q03497",
            "uniprot_id": "STE20_YEAST",
            "refseq_ac": "NP_011856",
            "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": "Serine/threonine-protein kinase STE20",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase kinase kinase kinase STE20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STE20",
                    "type": "recommended"
                },
                {
                    "name": "STE20",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03497-1",
            "evidence": [
                {
                    "id": "0112051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112051"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62829-1",
            "uniprot_ac": "Q62829",
            "uniprot_id": "PAK3_RAT",
            "refseq_ac": "NP_062083",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase PAK 3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Beta-PAK",
                    "type": "synonym"
                },
                {
                    "name": "PAK-3",
                    "type": "synonym"
                },
                {
                    "name": "p21 (CDKN1A)-activated kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "p21 protein (Cdc42/Rac)-activated kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "p21-activated kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "p21/Cdc42/Rac1-activated kinase 3 (yeast Ste20-related)",
                    "type": "synonym"
                },
                {
                    "name": "p65-PAK",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase PAK 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pak3",
                    "type": "recommended"
                },
                {
                    "name": "Pak3",
                    "type": "synonym"
                },
                {
                    "name": "beta-PAK",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62829-1",
            "evidence": [
                {
                    "id": "0112051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112051"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VI13-1",
            "uniprot_ac": "Q9VI13",
            "uniprot_id": "PAK_DROME",
            "refseq_ac": "NP_001262309",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase Pak",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "CG10295-PE",
                    "type": "synonym"
                },
                {
                    "name": "P21-activated kinase",
                    "type": "synonym"
                },
                {
                    "name": "P21-activating kinase",
                    "type": "synonym"
                },
                {
                    "name": "PAK kinase",
                    "type": "synonym"
                },
                {
                    "name": "PAK-kinase",
                    "type": "synonym"
                },
                {
                    "name": "Pak-PE",
                    "type": "synonym"
                },
                {
                    "name": "Pak1 kinase",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) persistent salivary gland 4",
                    "type": "synonym"
                },
                {
                    "name": "p-21 activated kinase",
                    "type": "synonym"
                },
                {
                    "name": "p21 activated kinase",
                    "type": "synonym"
                },
                {
                    "name": "p21- activated kinase",
                    "type": "synonym"
                },
                {
                    "name": "p21-activated kinase, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "p21-activated serine/threonine kinase",
                    "type": "synonym"
                },
                {
                    "name": "p21-associated kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pak",
                    "type": "recommended"
                },
                {
                    "name": "CG10295",
                    "type": "synonym"
                },
                {
                    "name": "D-Pak",
                    "type": "synonym"
                },
                {
                    "name": "DPAK",
                    "type": "synonym"
                },
                {
                    "name": "DPak1",
                    "type": "synonym"
                },
                {
                    "name": "DPak",
                    "type": "synonym"
                },
                {
                    "name": "DmPAK1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10295",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10295",
                    "type": "synonym"
                },
                {
                    "name": "Dpak1",
                    "type": "synonym"
                },
                {
                    "name": "Dpak",
                    "type": "synonym"
                },
                {
                    "name": "PAK-1",
                    "type": "synonym"
                },
                {
                    "name": "PAK1",
                    "type": "synonym"
                },
                {
                    "name": "PAK2",
                    "type": "synonym"
                },
                {
                    "name": "PAK",
                    "type": "synonym"
                },
                {
                    "name": "PaK",
                    "type": "synonym"
                },
                {
                    "name": "Pak1",
                    "type": "synonym"
                },
                {
                    "name": "Pak",
                    "type": "synonym"
                },
                {
                    "name": "dPAK1",
                    "type": "synonym"
                },
                {
                    "name": "dPAK",
                    "type": "synonym"
                },
                {
                    "name": "dPak",
                    "type": "synonym"
                },
                {
                    "name": "dpak1",
                    "type": "synonym"
                },
                {
                    "name": "dpak",
                    "type": "synonym"
                },
                {
                    "name": "l(3)psg4",
                    "type": "synonym"
                },
                {
                    "name": "p65[PAK]",
                    "type": "synonym"
                },
                {
                    "name": "pak1",
                    "type": "synonym"
                },
                {
                    "name": "pak",
                    "type": "synonym"
                },
                {
                    "name": "psg4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VI13-1",
            "evidence": [
                {
                    "id": "0112051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112051"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112051"
}