{
    "disease_id": "DOID:0061096",
    "recommended_name": {
        "id": "DOID:0061096",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061096",
        "name": "immunodeficiency 133",
        "description": "A primary immunodeficiency disease that is characterized immunodeficiency manifest as combined immunodeficiency (CID) or common variable immunodeficiency (CVID) and features of ectodermal dysplasia, notably dysmorphic conical incisors and sparse hair, and that has_material_basis_in heterozygous mutation in the ITPR3 gene on chromosome 6p21."
    },
    "synonyms": [
        {
            "id": "DOID:0061096",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061096",
            "name": "immunodeficiency 133 with autoimmunity and autoinflammation",
            "description": ""
        },
        {
            "id": "MONDO:0979570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0979570",
            "name": "immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy",
            "description": ""
        },
        {
            "id": "MIM:621254",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/621254",
            "name": "Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy",
            "description": "Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061096"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061096",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061096",
            "categories": []
        },
        {
            "id": "MONDO:0979570",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0979570",
            "categories": []
        },
        {
            "id": "MIM:621254",
            "database": "MIM",
            "url": "https://www.omim.org/entry/621254",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M6Z266-1",
            "uniprot_ac": "A0A8M6Z266",
            "uniprot_id": "A0A8M6Z266_DANRE",
            "refseq_ac": "XP_017212869",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inositol 1,4,5-trisphosphate receptor",
                    "type": "recommended"
                },
                {
                    "name": "inositol 1,4,5-trisphosphate-gated calcium channel ITPR3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "itpr3",
                    "type": "recommended"
                },
                {
                    "name": "itpr3",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-163f12.8",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6Z266-1",
            "evidence": [
                {
                    "id": "0061096",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061096"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70227-1",
            "uniprot_ac": "P70227",
            "uniprot_id": "ITPR3_MOUSE",
            "refseq_ac": "NP_542120",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inositol 1,4,5-trisphosphate-gated calcium channel ITPR3",
                    "type": "recommended"
                },
                {
                    "name": "IP3 receptor isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "IP3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "IP3R-3",
                    "type": "synonym"
                },
                {
                    "name": "Inositol 1,4,5-trisphosphate receptor type 3",
                    "type": "synonym"
                },
                {
                    "name": "InsP3R3",
                    "type": "synonym"
                },
                {
                    "name": "Type 3 InsP3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Type 3 inositol 1,4,5-trisphosphate receptor",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5-trisphosphate receptor type 3",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5-trisphosphate-gated calcium channel ITPR3",
                    "type": "synonym"
                },
                {
                    "name": "insP3R3",
                    "type": "synonym"
                },
                {
                    "name": "type 3 InsP3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "type 3 inositol 1,4,5-trisphosphate receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Itpr3",
                    "type": "recommended"
                },
                {
                    "name": "IP3R 3",
                    "type": "synonym"
                },
                {
                    "name": "IP3R-3",
                    "type": "synonym"
                },
                {
                    "name": "Ip3r3",
                    "type": "synonym"
                },
                {
                    "name": "Itpr-3",
                    "type": "synonym"
                },
                {
                    "name": "Itpr3",
                    "type": "synonym"
                },
                {
                    "name": "tf",
                    "type": "synonym"
                }
            ],
            "record_id": "P70227-1",
            "evidence": [
                {
                    "id": "0061096",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061096"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14573-1",
            "uniprot_ac": "Q14573",
            "uniprot_id": "ITPR3_HUMAN",
            "refseq_ac": "NP_002215",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inositol 1,4,5-trisphosphate-gated calcium channel ITPR3",
                    "type": "recommended"
                },
                {
                    "name": "IP3 receptor isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "IP3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "IP3R-3",
                    "type": "synonym"
                },
                {
                    "name": "InsP3R3",
                    "type": "synonym"
                },
                {
                    "name": "Type 3 InsP3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Type 3 inositol 1,4,5-trisphosphate receptor",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5-triphosphate receptor, type 3",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5-trisphosphate-gated calcium channel ITPR3",
                    "type": "synonym"
                },
                {
                    "name": "insP3R3",
                    "type": "synonym"
                },
                {
                    "name": "type 3 InsP3 receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ITPR3",
                    "type": "recommended"
                },
                {
                    "name": "CMT1J",
                    "type": "synonym"
                },
                {
                    "name": "IMD132",
                    "type": "synonym"
                },
                {
                    "name": "IMD133",
                    "type": "synonym"
                },
                {
                    "name": "IP3R-3",
                    "type": "synonym"
                },
                {
                    "name": "IP3R3",
                    "type": "synonym"
                },
                {
                    "name": "IP3R",
                    "type": "synonym"
                },
                {
                    "name": "ITPR3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14573-1",
            "evidence": [
                {
                    "id": "621254",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621254"
                },
                {
                    "id": "0061096",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061096"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63269-1",
            "uniprot_ac": "Q63269",
            "uniprot_id": "ITPR3_RAT",
            "refseq_ac": "NP_037270",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inositol 1,4,5-trisphosphate-gated calcium channel ITPR3",
                    "type": "recommended"
                },
                {
                    "name": "IP3 receptor isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "IP3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "IP3R 3",
                    "type": "synonym"
                },
                {
                    "name": "IP3R-3",
                    "type": "synonym"
                },
                {
                    "name": "Inositol 1,4,5-trisphosphate receptor type 3",
                    "type": "synonym"
                },
                {
                    "name": "InsP3R3",
                    "type": "synonym"
                },
                {
                    "name": "Type 3 InsP3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Type 3 inositol 1,4,5-trisphosphate receptor",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5-triphosphate receptor 3",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5-triphosphate receptor, type 3",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5-trisphosphate-gated calcium channel ITPR3",
                    "type": "synonym"
                },
                {
                    "name": "insP3R3",
                    "type": "synonym"
                },
                {
                    "name": "type 3 InsP3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "type 3 inositol 1,4,5-trisphosphate receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Itpr3",
                    "type": "recommended"
                },
                {
                    "name": "IP3R-3",
                    "type": "synonym"
                },
                {
                    "name": "IP3R3X",
                    "type": "synonym"
                },
                {
                    "name": "IP3R3",
                    "type": "synonym"
                },
                {
                    "name": "Itpr3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63269-1",
            "evidence": [
                {
                    "id": "0061096",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061096"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29993-1",
            "uniprot_ac": "P29993",
            "uniprot_id": "ITPR_DROME",
            "refseq_ac": "NP_001287180",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inositol 1,4,5-trisphosphate receptor",
                    "type": "recommended"
                },
                {
                    "name": "1, 4, 5-inositol trisphosphate receptor",
                    "type": "synonym"
                },
                {
                    "name": "CG1063-PC",
                    "type": "synonym"
                },
                {
                    "name": "IP3R",
                    "type": "synonym"
                },
                {
                    "name": "IP[[3]] receptor",
                    "type": "synonym"
                },
                {
                    "name": "Inositol(1,4,5)-triphosphate receptor 42B",
                    "type": "synonym"
                },
                {
                    "name": "Ins(1,4,5)P[[3]] receptor",
                    "type": "synonym"
                },
                {
                    "name": "InsP3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "InsP3R",
                    "type": "synonym"
                },
                {
                    "name": "InsP[[3]] receptor",
                    "type": "synonym"
                },
                {
                    "name": "Itpr-PC",
                    "type": "synonym"
                },
                {
                    "name": "dm_IP3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5,-tris-phosphate receptor",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5,-trisphosphate receptor, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5-triphosphate receptor",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5-trisphosphate (InsP3) receptor",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5-trisphosphate receptor",
                    "type": "synonym"
                },
                {
                    "name": "inositol triphosphate receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "inositol trisphosphate receptor",
                    "type": "synonym"
                },
                {
                    "name": "inositol-1,3,5,-trisphosphate receptor",
                    "type": "synonym"
                },
                {
                    "name": "inositol-1,4,5-trisphosphate receptor",
                    "type": "synonym"
                },
                {
                    "name": "inositol-triphosphate receptor",
                    "type": "synonym"
                },
                {
                    "name": "ip3-receptor",
                    "type": "synonym"
                },
                {
                    "name": "type 1 InsP{3} receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Itpr",
                    "type": "recommended"
                },
                {
                    "name": "CG1063",
                    "type": "synonym"
                },
                {
                    "name": "DIP",
                    "type": "synonym"
                },
                {
                    "name": "DmInsP[[3R]]",
                    "type": "synonym"
                },
                {
                    "name": "DmInsP[[3]]R",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1063",
                    "type": "synonym"
                },
                {
                    "name": "IP3R",
                    "type": "synonym"
                },
                {
                    "name": "IP[[3]] receptor",
                    "type": "synonym"
                },
                {
                    "name": "IP[[3]]R",
                    "type": "synonym"
                },
                {
                    "name": "IP",
                    "type": "synonym"
                },
                {
                    "name": "ITP-r83A",
                    "type": "synonym"
                },
                {
                    "name": "ITPR1",
                    "type": "synonym"
                },
                {
                    "name": "ITPR",
                    "type": "synonym"
                },
                {
                    "name": "Ins3PR",
                    "type": "synonym"
                },
                {
                    "name": "InsP(3)",
                    "type": "synonym"
                },
                {
                    "name": "InsP3R",
                    "type": "synonym"
                },
                {
                    "name": "InsP3",
                    "type": "synonym"
                },
                {
                    "name": "InsP[[3]]R",
                    "type": "synonym"
                },
                {
                    "name": "InsP[[3]]",
                    "type": "synonym"
                },
                {
                    "name": "Insp3R",
                    "type": "synonym"
                },
                {
                    "name": "Ip3R",
                    "type": "synonym"
                },
                {
                    "name": "Ip3r",
                    "type": "synonym"
                },
                {
                    "name": "Itp-R83A",
                    "type": "synonym"
                },
                {
                    "name": "Itp-R83a",
                    "type": "synonym"
                },
                {
                    "name": "Itp-r-83A",
                    "type": "synonym"
                },
                {
                    "name": "Itp-r42B",
                    "type": "synonym"
                },
                {
                    "name": "Itp-r83A",
                    "type": "synonym"
                },
                {
                    "name": "Itp-r[1]",
                    "type": "synonym"
                },
                {
                    "name": "Itp-r",
                    "type": "synonym"
                },
                {
                    "name": "ItpR",
                    "type": "synonym"
                },
                {
                    "name": "Itpr",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO02059370.49",
                    "type": "synonym"
                },
                {
                    "name": "dIP3R",
                    "type": "synonym"
                },
                {
                    "name": "dIP[[3]]R",
                    "type": "synonym"
                },
                {
                    "name": "dip",
                    "type": "synonym"
                },
                {
                    "name": "ip3r",
                    "type": "synonym"
                },
                {
                    "name": "itpr-83",
                    "type": "synonym"
                },
                {
                    "name": "itpr",
                    "type": "synonym"
                },
                {
                    "name": "l(3)05616",
                    "type": "synonym"
                },
                {
                    "name": "l(3)itpr",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j5B4",
                    "type": "synonym"
                }
            ],
            "record_id": "P29993-1",
            "evidence": [
                {
                    "id": "0061096",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061096"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y5R6-1",
            "uniprot_ac": "Q9Y5R6",
            "uniprot_id": "DMRT1_HUMAN",
            "refseq_ac": "NP_068770",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Doublesex- and mab-3-related transcription factor 1",
                    "type": "recommended"
                },
                {
                    "name": "DM domain expressed in testis 1",
                    "type": "synonym"
                },
                {
                    "name": "DM domain expressed in testis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "doublesex- and mab-3-related transcription factor 1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DMRT1",
                    "type": "recommended"
                },
                {
                    "name": "CT154",
                    "type": "synonym"
                },
                {
                    "name": "DMRT1",
                    "type": "synonym"
                },
                {
                    "name": "DMT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y5R6-1",
            "evidence": [
                {
                    "id": "0061096",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061096"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061096"
}