{
    "disease_id": "DOID:0112013",
    "recommended_name": {
        "id": "DOID:0112013",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112013",
        "name": "autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques",
        "description": "A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112013",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112013",
            "name": "OLMS1",
            "description": ""
        },
        {
            "id": "DOID:0112013",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112013",
            "name": "Olmsted syndrome 1",
            "description": ""
        },
        {
            "id": "DOID:0112013",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112013",
            "name": "autosomal dominant Olmsted syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0100296",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100296",
            "name": "Olmsted syndrome 1",
            "description": "Any Olmsted syndrome in which the cause of the disease is a variation in the TRPV3 gene."
        },
        {
            "id": "MONDO:0100296",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100296",
            "name": "Olmsted syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0100296",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100296",
            "name": "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 1",
            "description": ""
        },
        {
            "id": "MIM:614594",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614594",
            "name": "Olmsted syndrome 1",
            "description": "Olmsted syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112013"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112013",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112013",
            "categories": []
        },
        {
            "id": "MONDO:0100296",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100296",
            "categories": []
        },
        {
            "id": "MIM:614594",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614594",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8K424-1",
            "uniprot_ac": "Q8K424",
            "uniprot_id": "TRPV3_MOUSE",
            "refseq_ac": "NP_659567",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily V member 3",
                    "type": "recommended"
                },
                {
                    "name": "TRP ion channel TRPV3",
                    "type": "synonym"
                },
                {
                    "name": "TrpV3",
                    "type": "synonym"
                },
                {
                    "name": "non-hair",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily V member 3 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trpv3",
                    "type": "recommended"
                },
                {
                    "name": "1110036I10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Nh",
                    "type": "synonym"
                },
                {
                    "name": "Trpv3",
                    "type": "synonym"
                },
                {
                    "name": "VRL3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K424-1",
            "evidence": [
                {
                    "id": "0112013",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112013"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NET8-1",
            "uniprot_ac": "Q8NET8",
            "uniprot_id": "TRPV3_HUMAN",
            "refseq_ac": "NP_659505",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily V member 3",
                    "type": "recommended"
                },
                {
                    "name": "TrpV3",
                    "type": "synonym"
                },
                {
                    "name": "VRL-3",
                    "type": "synonym"
                },
                {
                    "name": "Vanilloid receptor-like 3",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily V member 3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "vanilloid receptor-like 3",
                    "type": "synonym"
                },
                {
                    "name": "vanilloid receptor-related osmotically activated channel protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRPV3",
                    "type": "recommended"
                },
                {
                    "name": "FNEPPK2",
                    "type": "synonym"
                },
                {
                    "name": "OLMS1",
                    "type": "synonym"
                },
                {
                    "name": "OLMS",
                    "type": "synonym"
                },
                {
                    "name": "TRPV3",
                    "type": "synonym"
                },
                {
                    "name": "VRL3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NET8-1",
            "evidence": [
                {
                    "id": "614594",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614594"
                },
                {
                    "id": "0112013",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112013"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12324-1",
            "uniprot_ac": "Q12324",
            "uniprot_id": "YVC1_YEAST",
            "refseq_ac": "NP_014730",
            "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 channel YVC1",
                    "type": "recommended"
                },
                {
                    "name": "TRP homolog",
                    "type": "synonym"
                },
                {
                    "name": "Yeast vacuolar conductance protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Yvc1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YVC1",
                    "type": "recommended"
                },
                {
                    "name": "YOR088W",
                    "type": "synonym"
                },
                {
                    "name": "YOR3151W",
                    "type": "synonym"
                },
                {
                    "name": "YVC1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12324-1",
            "evidence": [
                {
                    "id": "0112013",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112013"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PU00-1",
            "uniprot_ac": "E9PU00",
            "uniprot_id": "E9PU00_RAT",
            "refseq_ac": "NP_001020928",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily V member 3",
                    "type": "recommended"
                },
                {
                    "name": "heat sensitive channel TRPV3",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily V member 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trpv3",
                    "type": "recommended"
                },
                {
                    "name": "Trpv3",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PU00-1",
            "evidence": [
                {
                    "id": "0112013",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112013"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PI57-1",
            "uniprot_ac": "M9PI57",
            "uniprot_id": "M9PI57_DROME",
            "refseq_ac": "NP_001261833",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5842-PB",
                    "type": "synonym"
                },
                {
                    "name": "NANCHUNG",
                    "type": "synonym"
                },
                {
                    "name": "Nanchung, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "nan-PB",
                    "type": "synonym"
                },
                {
                    "name": "nanchung, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential vanilloid",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nan",
                    "type": "recommended"
                },
                {
                    "name": "CG5842",
                    "type": "synonym"
                },
                {
                    "name": "CT18317",
                    "type": "synonym"
                },
                {
                    "name": "DmNan",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5842",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5842",
                    "type": "synonym"
                },
                {
                    "name": "Iav",
                    "type": "synonym"
                },
                {
                    "name": "NAN",
                    "type": "synonym"
                },
                {
                    "name": "Nan",
                    "type": "synonym"
                },
                {
                    "name": "OCR",
                    "type": "synonym"
                },
                {
                    "name": "TRPV",
                    "type": "synonym"
                },
                {
                    "name": "nan",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PI57-1",
            "evidence": [
                {
                    "id": "0112013",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112013"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112013"
}