{
    "disease_id": "DOID:0061039",
    "recommended_name": {
        "id": "DOID:0061039",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061039",
        "name": "autosomal dominant intellectual developmental disorder 66",
        "description": "An autosomal dominant intellectual developmental disorder characterized by global developmental delay with mildly to moderately impaired intellectual development and mild speech delay that has_material_basis_in heterozygous mutation in the ATP2B1 gene on chromosome 12q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0030891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030891",
            "name": "intellectual developmental disorder, autosomal dominant 66",
            "description": ""
        },
        {
            "id": "MONDO:0030891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030891",
            "name": "MRD66",
            "description": ""
        },
        {
            "id": "MONDO:0030891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030891",
            "name": "intellectual developmental disorder, autosomal dominant 66",
            "description": ""
        },
        {
            "id": "MONDO:0030891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030891",
            "name": "mental retardation, autosomal dominant 66",
            "description": ""
        },
        {
            "id": "MIM:619910",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619910",
            "name": "Intellectual developmental disorder, autosomal dominant 66",
            "description": "Intellectual developmental disorder, autosomal dominant 66"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061039"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061039",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061039",
            "categories": []
        },
        {
            "id": "MONDO:0030891",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030891",
            "categories": []
        },
        {
            "id": "MIM:619910",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619910",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32THH2-1",
            "uniprot_ac": "A0AB32THH2",
            "uniprot_id": "A0AB32THH2_DANRE",
            "refseq_ac": "XP_068073493",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium-transporting ATPase",
                    "type": "recommended"
                },
                {
                    "name": "7.2.2.10",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium-transporting ATPase 4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atp2b1b",
                    "type": "recommended"
                },
                {
                    "name": "atp2b1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32THH2-1",
            "evidence": [
                {
                    "id": "0061039",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061039"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9Q0B2-1",
            "uniprot_ac": "A0A8M9Q0B2",
            "uniprot_id": "A0A8M9Q0B2_DANRE",
            "refseq_ac": "XP_009298531",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium-transporting ATPase",
                    "type": "recommended"
                },
                {
                    "name": "7.2.2.10",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium-transporting ATPase 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atp2b1a",
                    "type": "recommended"
                },
                {
                    "name": "atp2b1a",
                    "type": "synonym"
                },
                {
                    "name": "pmca1a",
                    "type": "synonym"
                },
                {
                    "name": "pmca1",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb801",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-18o7.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fe47b06",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi41d01",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9Q0B2-1",
            "evidence": [
                {
                    "id": "0061039",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061039"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G5E829-1",
            "uniprot_ac": "G5E829",
            "uniprot_id": "AT2B1_MOUSE",
            "refseq_ac": "NP_080758",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Plasma membrane calcium-transporting ATPase 1",
                    "type": "recommended"
                },
                {
                    "name": "7.2.2.10",
                    "type": "synonym"
                },
                {
                    "name": "PMCA1",
                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane calcium ATPase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane calcium pump isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium ATPase",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium pump",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium-transporting ATPase 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium-transporting ATPase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp2b1",
                    "type": "recommended"
                },
                {
                    "name": "2810442I22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Atp2b1",
                    "type": "synonym"
                },
                {
                    "name": "E130111D10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Pmca1",
                    "type": "synonym"
                }
            ],
            "record_id": "G5E829-1",
            "evidence": [
                {
                    "id": "0061039",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061039"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20020-3",
            "uniprot_ac": "P20020",
            "uniprot_id": "AT2B1_HUMAN",
            "refseq_ac": "NP_001001323",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Plasma membrane calcium-transporting ATPase 1",
                    "type": "recommended"
                },
                {
                    "name": "7.2.2.10",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, Ca++ transporting, plasma membrane 1",
                    "type": "synonym"
                },
                {
                    "name": "PMCA1",
                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane calcium ATPase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane calcium pump isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium pump",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium-transporting ATPase 1 isoform 1a",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium-transporting ATPase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP2B1",
                    "type": "recommended"
                },
                {
                    "name": "ATP2B1",
                    "type": "synonym"
                },
                {
                    "name": "MRD66",
                    "type": "synonym"
                },
                {
                    "name": "PMCA1kb",
                    "type": "synonym"
                },
                {
                    "name": "PMCA1",
                    "type": "synonym"
                }
            ],
            "record_id": "P20020-3",
            "evidence": [
                {
                    "id": "619910",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619910"
                },
                {
                    "id": "0061039",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061039"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38929-1",
            "uniprot_ac": "P38929",
            "uniprot_id": "ATC2_YEAST",
            "refseq_ac": "NP_011509",
            "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": "Calcium-transporting ATPase 2",
                    "type": "recommended"
                },
                {
                    "name": "7.2.2.10",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar Ca(2+)-ATPase",
                    "type": "synonym"
                },
                {
                    "name": "calcium-transporting ATPase PMC1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PMC1",
                    "type": "recommended"
                },
                {
                    "name": "PMC1",
                    "type": "synonym"
                }
            ],
            "record_id": "P38929-1",
            "evidence": [
                {
                    "id": "0061039",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061039"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11505-3",
            "uniprot_ac": "P11505",
            "uniprot_id": "AT2B1_RAT",
            "refseq_ac": "NP_445763",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Plasma membrane calcium-transporting ATPase 1",
                    "type": "recommended"
                },
                {
                    "name": "7.2.2.10",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, Ca++ transporting, plasma membrane 1",
                    "type": "synonym"
                },
                {
                    "name": "PMCA1",
                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane calcium ATPase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane calcium pump isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium ATPase",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium pump",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium-transporting ATPase 1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium-transporting ATPase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp2b1",
                    "type": "recommended"
                },
                {
                    "name": "Atp2b1",
                    "type": "synonym"
                },
                {
                    "name": "Pmca1a",
                    "type": "synonym"
                },
                {
                    "name": "Pmca1b",
                    "type": "synonym"
                },
                {
                    "name": "Pmca1c",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0061039",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0061039"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q59DP9-1",
            "uniprot_ac": "Q59DP9",
            "uniprot_id": "Q59DP9_DROME",
            "refseq_ac": "NP_001014689",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium-transporting ATPase",
                    "type": "recommended"
                },
                {
                    "name": "7.2.2.10",
                    "type": "synonym"
                },
                {
                    "name": "CG42314-PM",
                    "type": "synonym"
                },
                {
                    "name": "PMCA-PM",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane Ca2+ ATPase",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane Ca[2+] ATPase",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium ATPase, isoform M",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PMCA",
                    "type": "recommended"
                },
                {
                    "name": "BEST:CK01140",
                    "type": "synonym"
                },
                {
                    "name": "BEST:CK02288",
                    "type": "synonym"
                },
                {
                    "name": "BEST:CK",
                    "type": "synonym"
                },
                {
                    "name": "BP1021",
                    "type": "synonym"
                },
                {
                    "name": "CG2165",
                    "type": "synonym"
                },
                {
                    "name": "CG34036",
                    "type": "synonym"
                },
                {
                    "name": "CG42314",
                    "type": "synonym"
                },
                {
                    "name": "CK02288",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42314",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42314",
                    "type": "synonym"
                },
                {
                    "name": "PMCA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q59DP9-1",
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                {
                    "id": "0061039",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061039"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061039"
}