{
    "disease_id": "DOID:0080230",
    "recommended_name": {
        "id": "DOID:0080230",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080230",
        "name": "autosomal dominant intellectual developmental disorder 54",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2B gene on chromosome 7p13."
    },
    "synonyms": [
        {
            "id": "DOID:0080230",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080230",
            "name": "autosomal dominant mental retardation 54",
            "description": ""
        },
        {
            "id": "MONDO:0030920",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030920",
            "name": "intellectual disability, autosomal dominant 54",
            "description": ""
        },
        {
            "id": "MONDO:0030920",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030920",
            "name": "intellectual disability, autosomal dominant 54",
            "description": ""
        },
        {
            "id": "MONDO:0030920",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030920",
            "name": "MRD54",
            "description": ""
        },
        {
            "id": "MONDO:0030920",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030920",
            "name": "autosomal dominant mental retardation 54",
            "description": ""
        },
        {
            "id": "MONDO:0030920",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030920",
            "name": "mental retardation, autosomal dominant 54",
            "description": ""
        },
        {
            "id": "MIM:617799",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617799",
            "name": "Intellectual developmental disorder, autosomal dominant 54",
            "description": "Intellectual developmental disorder, autosomal dominant 54"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080230"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080230",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080230",
            "categories": []
        },
        {
            "id": "MONDO:0030920",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030920",
            "categories": []
        },
        {
            "id": "MIM:617799",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617799",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9Q3H8-1",
            "uniprot_ac": "A0A8M9Q3H8",
            "uniprot_id": "A0A8M9Q3H8_DANRE",
            "refseq_ac": "XP_021331894",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "calcium/calmodulin-dependent protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.17",
                    "type": "synonym"
                },
                {
                    "name": "calcium/calmodulin-dependent protein kinase (CaM kinase) II beta 1 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "camk2b1",
                    "type": "recommended"
                },
                {
                    "name": "CAMK2Gb",
                    "type": "synonym"
                },
                {
                    "name": "camk2b1",
                    "type": "synonym"
                },
                {
                    "name": "camk2b",
                    "type": "synonym"
                },
                {
                    "name": "fj90d04",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-174n20.2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj90d04",
                    "type": "synonym"
                },
                {
                    "name": "zgc:165373",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9Q3H8-1",
            "evidence": [
                {
                    "id": "0080230",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080230"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28652-1",
            "uniprot_ac": "P28652",
            "uniprot_id": "KCC2B_MOUSE",
            "refseq_ac": "NP_031621",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium/calmodulin-dependent protein kinase type II subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.17",
                    "type": "synonym"
                },
                {
                    "name": "CaM kinase II subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "CaMK II",
                    "type": "synonym"
                },
                {
                    "name": "CaMK-II subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "caM kinase II subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "caMK-II subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "calcium/calmodulin-dependent protein kinase type II subunit beta isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "calcium/calmodulin-dependent protein kinase type II subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Camk2b",
                    "type": "recommended"
                },
                {
                    "name": "CaMKII",
                    "type": "synonym"
                },
                {
                    "name": "Camk2b",
                    "type": "synonym"
                },
                {
                    "name": "Camk2d",
                    "type": "synonym"
                }
            ],
            "record_id": "P28652-1",
            "evidence": [
                {
                    "id": "0080230",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080230"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13554-1",
            "uniprot_ac": "Q13554",
            "uniprot_id": "KCC2B_HUMAN",
            "refseq_ac": "NP_001211",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium/calmodulin-dependent protein kinase type II subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.17",
                    "type": "synonym"
                },
                {
                    "name": "CaM kinase II beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "CaM kinase II subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "CaM-kinase II beta chain",
                    "type": "synonym"
                },
                {
                    "name": "CaMK-II subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "caMK-II subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "calcium/calmodulin-dependent protein kinase type II subunit beta isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "calcium/calmodulin-dependent protein kinase type II subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "proline rich calmodulin-dependent protein kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CAMK2B",
                    "type": "recommended"
                },
                {
                    "name": "CAM2",
                    "type": "synonym"
                },
                {
                    "name": "CAMK2B",
                    "type": "synonym"
                },
                {
                    "name": "CAMK2",
                    "type": "synonym"
                },
                {
                    "name": "CAMKB",
                    "type": "synonym"
                },
                {
                    "name": "CaMKIIbeta",
                    "type": "synonym"
                },
                {
                    "name": "MRD54",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13554-1",
            "evidence": [
                {
                    "id": "617799",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617799"
                },
                {
                    "id": "0080230",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080230"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38623-1",
            "uniprot_ac": "P38623",
            "uniprot_id": "RCK2_YEAST",
            "refseq_ac": "NP_013349",
            "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 RCK2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "CAM kinase-like protein kinase CLK1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine protein kinase RCK2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RCK2",
                    "type": "recommended"
                },
                {
                    "name": "CLK1",
                    "type": "synonym"
                },
                {
                    "name": "CMK3",
                    "type": "synonym"
                },
                {
                    "name": "L9672.6",
                    "type": "synonym"
                },
                {
                    "name": "RCK2",
                    "type": "synonym"
                }
            ],
            "record_id": "P38623-1",
            "evidence": [
                {
                    "id": "0080230",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080230"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08413-1",
            "uniprot_ac": "P08413",
            "uniprot_id": "KCC2B_RAT",
            "refseq_ac": "NP_001035815",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium/calmodulin-dependent protein kinase type II subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.17",
                    "type": "synonym"
                },
                {
                    "name": "Ca++/calmodulin-dependent protein kinase II beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "CaM kinase II subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "CaMK-II subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "caM kinase II subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "caM-kinase II beta chain",
                    "type": "synonym"
                },
                {
                    "name": "caMK-II subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "calcium/calmodulin-dependent protein kinase (CaM kinase) II beta",
                    "type": "synonym"
                },
                {
                    "name": "calcium/calmodulin-dependent protein kinase type II beta chain",
                    "type": "synonym"
                },
                {
                    "name": "calcium/calmodulin-dependent protein kinase type II subunit beta isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "calcium/calmodulin-dependent protein kinase type II subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Camk2b",
                    "type": "recommended"
                },
                {
                    "name": "Camk2b",
                    "type": "synonym"
                },
                {
                    "name": "Camk2g",
                    "type": "synonym"
                },
                {
                    "name": "Ck2b",
                    "type": "synonym"
                }
            ],
            "record_id": "P08413-1",
            "evidence": [
                {
                    "id": "0080230",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080230"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00168-1",
            "uniprot_ac": "Q00168",
            "uniprot_id": "KCC2A_DROME",
            "refseq_ac": "NP_001014696",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium/calmodulin-dependent protein kinase type II alpha chain",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.17",
                    "type": "synonym"
                },
                {
                    "name": "CG18069-PG",
                    "type": "synonym"
                },
                {
                    "name": "Ca2+ calmodulin-dependent kinase II",
                    "type": "synonym"
                },
                {
                    "name": "Ca2+/calmodulin-dependent protein kinase II",
                    "type": "synonym"
                },
                {
                    "name": "CaM kinase II",
                    "type": "synonym"
                },
                {
                    "name": "CaM kinase",
                    "type": "synonym"
                },
                {
                    "name": "CaM-kinase II alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "CaM-kinase-II",
                    "type": "synonym"
                },
                {
                    "name": "CaMKII-PG",
                    "type": "synonym"
                },
                {
                    "name": "Ca[2+]-calmodulin-dependent protein kinase II",
                    "type": "synonym"
                },
                {
                    "name": "Ca[2+]/calmodulin-dependent protein kinase II",
                    "type": "synonym"
                },
                {
                    "name": "Calcium/calmodulin-dependent protein kinase II, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "Calcium/calmodulin-dependent protein kinase ii",
                    "type": "synonym"
                },
                {
                    "name": "calcium/ calmodulin-dependent protein kinase II",
                    "type": "synonym"
                },
                {
                    "name": "calcium/calmodulin-dependent protein kinase type II",
                    "type": "synonym"
                },
                {
                    "name": "calmodulin kinase II",
                    "type": "synonym"
                },
                {
                    "name": "lethal (4) 102EFb",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CaMKII",
                    "type": "recommended"
                },
                {
                    "name": "CAMKIIalpha",
                    "type": "synonym"
                },
                {
                    "name": "CAMKIId",
                    "type": "synonym"
                },
                {
                    "name": "CAMKII",
                    "type": "synonym"
                },
                {
                    "name": "CDPK1",
                    "type": "synonym"
                },
                {
                    "name": "CG18069",
                    "type": "synonym"
                },
                {
                    "name": "Ca2+/calmodulin-dependent protein kinase II",
                    "type": "synonym"
                },
                {
                    "name": "CaM II",
                    "type": "synonym"
                },
                {
                    "name": "CaM KII",
                    "type": "synonym"
                },
                {
                    "name": "CaM kinase",
                    "type": "synonym"
                },
                {
                    "name": "CaMK II",
                    "type": "synonym"
                },
                {
                    "name": "CaMK-II",
                    "type": "synonym"
                },
                {
                    "name": "CaMKII",
                    "type": "synonym"
                },
                {
                    "name": "CaMKii",
                    "type": "synonym"
                },
                {
                    "name": "CaM",
                    "type": "synonym"
                },
                {
                    "name": "Calcium/calmodulin-dependent protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "CamK-II",
                    "type": "synonym"
                },
                {
                    "name": "CamKIIalpha",
                    "type": "synonym"
                },
                {
                    "name": "CamKII",
                    "type": "synonym"
                },
                {
                    "name": "Camkii",
                    "type": "synonym"
                },
                {
                    "name": "Cam",
                    "type": "synonym"
                },
                {
                    "name": "DCK",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18069",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18069",
                    "type": "synonym"
                },
                {
                    "name": "calcium/calmodulin-dependent protein kinase II",
                    "type": "synonym"
                },
                {
                    "name": "camKII",
                    "type": "synonym"
                },
                {
                    "name": "camk II",
                    "type": "synonym"
                },
                {
                    "name": "camkII",
                    "type": "synonym"
                },
                {
                    "name": "camkii",
                    "type": "synonym"
                },
                {
                    "name": "dCAMKII",
                    "type": "synonym"
                },
                {
                    "name": "dCaMKII",
                    "type": "synonym"
                },
                {
                    "name": "l(4)102EFb",
                    "type": "synonym"
                },
                {
                    "name": "l(4)16",
                    "type": "synonym"
                },
                {
                    "name": "l(4)ar",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00168-1",
            "evidence": [
                {
                    "id": "0080230",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080230"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080230"
}