{
    "disease_id": "DOID:0060603",
    "recommended_name": {
        "id": "DOID:0060603",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060603",
        "name": "isolated anhidrosis with normal sweat glands",
        "description": "An anhidrosis that has_material_basis_in homozygous mutation in the ITPR2 gene on chromosome 12p11."
    },
    "synonyms": [
        {
            "id": "DOID:0060603",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060603",
            "name": "Dann-Epstein-Sohar syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007118",
            "name": "isolated anhidrosis with normal sweat glands",
            "description": "Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene."
        },
        {
            "id": "MONDO:0007118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007118",
            "name": "Dann-Epstein-Sohar syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007118",
            "name": "ITPR2 anhidrosis",
            "description": ""
        },
        {
            "id": "MONDO:0007118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007118",
            "name": "anhidrosis caused by mutation in ITPR2",
            "description": ""
        },
        {
            "id": "MONDO:0007118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007118",
            "name": "ANHD",
            "description": ""
        },
        {
            "id": "MONDO:0007118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007118",
            "name": "anhidrosis, isolated, with normal sweat glands",
            "description": ""
        },
        {
            "id": "MONDO:0007118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007118",
            "name": "isolated generalised anhidrosis with normal sweat glands",
            "description": ""
        },
        {
            "id": "MIM:106190",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/106190",
            "name": "Anhidrosis, isolated, with normal sweat glands",
            "description": "Anhidrosis, isolated, with normal sweat glands"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060603"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060603",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060603",
            "categories": []
        },
        {
            "id": "MONDO:0007118",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007118",
            "categories": []
        },
        {
            "id": "MIM:106190",
            "database": "MIM",
            "url": "https://www.omim.org/entry/106190",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PQQ3-1",
            "uniprot_ac": "A0A8M9PQQ3",
            "uniprot_id": "A0A8M9PQQ3_DANRE",
            "refseq_ac": "XP_021323455",
            "glycoprotein": "yes",
            "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 ITPR2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "itpr2",
                    "type": "recommended"
                },
                {
                    "name": "itpr2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PQQ3-1",
            "evidence": [
                {
                    "id": "0060603",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060603"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z329-1",
            "uniprot_ac": "Q9Z329",
            "uniprot_id": "ITPR2_MOUSE",
            "refseq_ac": "NP_034716",
            "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 ITPR2",
                    "type": "recommended"
                },
                {
                    "name": "IP3 receptor isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "IP3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "IP3R 2",
                    "type": "synonym"
                },
                {
                    "name": "Inositol 1,4,5-trisphosphate receptor type 2",
                    "type": "synonym"
                },
                {
                    "name": "Inositol 1,4,5-trisphosphate type V receptor",
                    "type": "synonym"
                },
                {
                    "name": "InsP3R2",
                    "type": "synonym"
                },
                {
                    "name": "Type 2 InsP3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Type 2 inositol 1,4,5-trisphosphate receptor",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5-triphosphate receptor 5",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5-trisphosphate receptor type 2",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5-trisphosphate type V receptor",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5-trisphosphate-gated calcium channel ITPR2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5-trisphosphate-gated calcium channel ITPR2",
                    "type": "synonym"
                },
                {
                    "name": "inositol trisphosphate receptor type 2",
                    "type": "synonym"
                },
                {
                    "name": "type 2 InsP3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "type 2 inositol 1,4,5-trisphosphate receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Itpr2",
                    "type": "recommended"
                },
                {
                    "name": "InsP3R-2",
                    "type": "synonym"
                },
                {
                    "name": "InsP3R-5",
                    "type": "synonym"
                },
                {
                    "name": "Ip3r2",
                    "type": "synonym"
                },
                {
                    "name": "Itpr2",
                    "type": "synonym"
                },
                {
                    "name": "Itpr5",
                    "type": "synonym"
                },
                {
                    "name": "insP3R2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z329-1",
            "evidence": [
                {
                    "id": "0060603",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060603"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14571-1",
            "uniprot_ac": "Q14571",
            "uniprot_id": "ITPR2_HUMAN",
            "refseq_ac": "NP_002214",
            "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 ITPR2",
                    "type": "recommended"
                },
                {
                    "name": "IP3 receptor isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "IP3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "IP3R 2",
                    "type": "synonym"
                },
                {
                    "name": "Inositol 1,4,5-trisphosphate receptor type 2",
                    "type": "synonym"
                },
                {
                    "name": "InsP3R2",
                    "type": "synonym"
                },
                {
                    "name": "Type 2 InsP3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Type 2 inositol 1,4,5-trisphosphate receptor",
                    "type": "synonym"
                },
                {
                    "name": "cilia and flagella associated protein 48",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5-trisphosphate-gated calcium channel ITPR2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5-trisphosphate-gated calcium channel ITPR2",
                    "type": "synonym"
                },
                {
                    "name": "type 2 InsP3 receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ITPR2",
                    "type": "recommended"
                },
                {
                    "name": "ANHD",
                    "type": "synonym"
                },
                {
                    "name": "CFAP48",
                    "type": "synonym"
                },
                {
                    "name": "INSP3R2",
                    "type": "synonym"
                },
                {
                    "name": "IP3R2",
                    "type": "synonym"
                },
                {
                    "name": "ITPR2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14571-1",
            "evidence": [
                {
                    "id": "106190",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/106190"
                },
                {
                    "id": "0060603",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060603"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29995-1",
            "uniprot_ac": "P29995",
            "uniprot_id": "ITPR2_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "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 ITPR2",
                    "type": "recommended"
                },
                {
                    "name": "IP3 receptor isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "IP3R 2",
                    "type": "synonym"
                },
                {
                    "name": "Inositol 1,4,5-trisphosphate receptor type 2",
                    "type": "synonym"
                },
                {
                    "name": "InsP3R2",
                    "type": "synonym"
                },
                {
                    "name": "Type 2 InsP3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Type 2 inositol 1,4,5-trisphosphate receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Itpr2",
                    "type": "recommended"
                }
            ],
            "record_id": "P29995-1",
            "evidence": [
                {
                    "id": "0060603",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060603"
                }
            ]
        },
        {
            "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": "0060603",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060603"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060603"
}