{
    "disease_id": "DOID:0080242",
    "recommended_name": {
        "id": "DOID:0080242",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080242",
        "name": "syndromic X-linked mental retardation Hough type",
        "description": "A syndromic X-linked intellectual disability that is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures and that has_material_basis_in hemizygous or heterozygous mutation in the CNKSR2 gene on chromosome Xp22."
    },
    "synonyms": [
        {
            "id": "MONDO:0030909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030909",
            "name": "intellectual disability, X-linked, syndromic, Houge type",
            "description": ""
        },
        {
            "id": "MONDO:0030909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030909",
            "name": "intellectual developmental disorder, X-linked, syndromic, Houge type",
            "description": ""
        },
        {
            "id": "MONDO:0030909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030909",
            "name": "intellectual disability, X-linked, syndromic, Houge type",
            "description": ""
        },
        {
            "id": "MONDO:0030909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030909",
            "name": "MRXSHG",
            "description": ""
        },
        {
            "id": "MONDO:0030909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030909",
            "name": "mental retardation, X-linked, syndromic, HOUGE type",
            "description": ""
        },
        {
            "id": "MONDO:0030909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030909",
            "name": "mental retardation, X-linked, syndromic, Houge type",
            "description": ""
        },
        {
            "id": "MONDO:0030909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030909",
            "name": "syndromic X-linked mental retardation Hough type",
            "description": ""
        },
        {
            "id": "MIM:301008",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301008",
            "name": "Intellectual developmental disorder, X-linked, syndromic, Houge type",
            "description": "Intellectual developmental disorder, X-linked, syndromic, Houge type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080242"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080242",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080242",
            "categories": []
        },
        {
            "id": "MONDO:0030909",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030909",
            "categories": []
        },
        {
            "id": "MIM:301008",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301008",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AM98-1",
            "uniprot_ac": "A0A8M3AM98",
            "uniprot_id": "A0A8M3AM98_DANRE",
            "refseq_ac": "XP_009293705",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Connector enhancer of kinase suppressor of ras 2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "connector enhancer of kinase suppressor of ras 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cnksr2b",
                    "type": "recommended"
                },
                {
                    "name": "cnksr2b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AM98-1",
            "evidence": [
                {
                    "id": "0080242",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080242"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB32TJ07-1",
            "uniprot_ac": "A0AB32TJ07",
            "uniprot_id": "A0AB32TJ07_DANRE",
            "refseq_ac": "XP_068073311",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Connector enhancer of kinase suppressor of ras 2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "connector enhancer of kinase suppressor of ras 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cnksr2a",
                    "type": "recommended"
                },
                {
                    "name": "cnksr2a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TJ07-1",
            "evidence": [
                {
                    "id": "0080242",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080242"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80YA9-1",
            "uniprot_ac": "Q80YA9",
            "uniprot_id": "CNKR2_MOUSE",
            "refseq_ac": "NP_001297648",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Connector enhancer of kinase suppressor of ras 2",
                    "type": "recommended"
                },
                {
                    "name": "CNK homolog protein 2",
                    "type": "synonym"
                },
                {
                    "name": "CNK2",
                    "type": "synonym"
                },
                {
                    "name": "Connector enhancer of KSR 2",
                    "type": "synonym"
                },
                {
                    "name": "connector enhancer of KSR 2",
                    "type": "synonym"
                },
                {
                    "name": "connector enhancer of KSR2",
                    "type": "synonym"
                },
                {
                    "name": "connector enhancer of kinase suppressor of ras 2 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cnksr2",
                    "type": "recommended"
                },
                {
                    "name": "Cnk2",
                    "type": "synonym"
                },
                {
                    "name": "Cnksr2",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0902",
                    "type": "synonym"
                },
                {
                    "name": "Ksr2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80YA9-1",
            "evidence": [
                {
                    "id": "0080242",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080242"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WXI2-1",
            "uniprot_ac": "Q8WXI2",
            "uniprot_id": "CNKR2_HUMAN",
            "refseq_ac": "NP_001162118",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Connector enhancer of kinase suppressor of ras 2",
                    "type": "recommended"
                },
                {
                    "name": "CNK homolog protein 2",
                    "type": "synonym"
                },
                {
                    "name": "CNK2",
                    "type": "synonym"
                },
                {
                    "name": "Connector enhancer of KSR 2",
                    "type": "synonym"
                },
                {
                    "name": "connector enhancer of KSR2",
                    "type": "synonym"
                },
                {
                    "name": "connector enhancer of kinase suppressor of ras 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated guanylate kinase-interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CNKSR2",
                    "type": "recommended"
                },
                {
                    "name": "CNK2",
                    "type": "synonym"
                },
                {
                    "name": "CNKSR2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0902",
                    "type": "synonym"
                },
                {
                    "name": "KSR2",
                    "type": "synonym"
                },
                {
                    "name": "MAGUIN",
                    "type": "synonym"
                },
                {
                    "name": "MRXSHG",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WXI2-1",
            "evidence": [
                {
                    "id": "301008",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301008"
                },
                {
                    "id": "0080242",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080242"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z1T4-1",
            "uniprot_ac": "Q9Z1T4",
            "uniprot_id": "CNKR2_RAT",
            "refseq_ac": "NP_001106837",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Connector enhancer of kinase suppressor of ras 2",
                    "type": "recommended"
                },
                {
                    "name": "CNK homolog protein 2",
                    "type": "synonym"
                },
                {
                    "name": "CNK2",
                    "type": "synonym"
                },
                {
                    "name": "Connector enhancer of KSR 2",
                    "type": "synonym"
                },
                {
                    "name": "Maguin",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-associated guanylate kinase-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "connector enhancer of KSR 2",
                    "type": "synonym"
                },
                {
                    "name": "connector enhancer of kinase suppressor of ras 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "maguin-1",
                    "type": "synonym"
                },
                {
                    "name": "maguin-2",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated guanylate kinase-interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cnksr2",
                    "type": "recommended"
                },
                {
                    "name": "Cnksr2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z1T4-1",
            "evidence": [
                {
                    "id": "0080242",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080242"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080242"
}