{
    "disease_id": "DOID:0080250",
    "recommended_name": {
        "id": "DOID:0080250",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080250",
        "name": "erythrokeratodermia variabilis et progressiva 4",
        "description": "An erythrokeratodermia variabilis that is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet and that has_material_basis_in compound heterozygous mutation in the KDSR gene on chromosome 18q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0033014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033014",
            "name": "erythrokeratodermia variabilis et progressiva 4",
            "description": ""
        },
        {
            "id": "MONDO:0033014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033014",
            "name": "erythrokeratodermia variabilis et progressiva 4",
            "description": ""
        },
        {
            "id": "MONDO:0033014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033014",
            "name": "EKVP4",
            "description": ""
        },
        {
            "id": "MIM:617526",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617526",
            "name": "Erythrokeratodermia variabilis et progressiva 4",
            "description": "Erythrokeratodermia variabilis et progressiva 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080250"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080250",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080250",
            "categories": []
        },
        {
            "id": "MONDO:0033014",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033014",
            "categories": []
        },
        {
            "id": "MIM:617526",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617526",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AAR9J7U1-1",
            "uniprot_ac": "A0AAR9J7U1",
            "uniprot_id": "A0AAR9J7U1_DANRE",
            "refseq_ac": "NP_957433",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "3-dehydrosphinganine reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.102",
                    "type": "synonym"
                },
                {
                    "name": "3-dehydrosphinganine reductase",
                    "type": "synonym"
                },
                {
                    "name": "follicular lymphoma variant translocation 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kdsr",
                    "type": "recommended"
                },
                {
                    "name": "fvt1",
                    "type": "synonym"
                },
                {
                    "name": "kdsr",
                    "type": "synonym"
                },
                {
                    "name": "unm_muz106",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55947",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AAR9J7U1-1",
            "evidence": [
                {
                    "id": "0080250",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080250"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6GV12-1",
            "uniprot_ac": "Q6GV12",
            "uniprot_id": "KDSR_MOUSE",
            "refseq_ac": "NP_081810",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "3-ketodihydrosphingosine reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.102",
                    "type": "synonym"
                },
                {
                    "name": "3-dehydrosphinganine reductase",
                    "type": "synonym"
                },
                {
                    "name": "3-ketodihydrosphingosine reductase isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "FVT-1",
                    "type": "synonym"
                },
                {
                    "name": "Follicular variant translocation protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "KDS reductase",
                    "type": "synonym"
                },
                {
                    "name": "follicular lymphoma variant translocation 1",
                    "type": "synonym"
                },
                {
                    "name": "follicular variant translocation protein 1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kdsr",
                    "type": "recommended"
                },
                {
                    "name": "6330410P18Rik",
                    "type": "synonym"
                },
                {
                    "name": "9430079B08Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fvt1",
                    "type": "synonym"
                },
                {
                    "name": "Kdsr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6GV12-1",
            "evidence": [
                {
                    "id": "0080250",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080250"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06136-1",
            "uniprot_ac": "Q06136",
            "uniprot_id": "KDSR_HUMAN",
            "refseq_ac": "NP_002026",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "3-ketodihydrosphingosine reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.102",
                    "type": "synonym"
                },
                {
                    "name": "3-dehydrosphinganine reductase",
                    "type": "synonym"
                },
                {
                    "name": "3-ketodihydrosphingosine reductase",
                    "type": "synonym"
                },
                {
                    "name": "FVT-1",
                    "type": "synonym"
                },
                {
                    "name": "Follicular variant translocation protein 1",
                    "type": "synonym"
                },
                {
                    "name": "KDS reductase",
                    "type": "synonym"
                },
                {
                    "name": "Short chain dehydrogenase/reductase family 35C member 1",
                    "type": "synonym"
                },
                {
                    "name": "follicular lymphoma variant translocation 1",
                    "type": "synonym"
                },
                {
                    "name": "follicular variant translocation protein 1",
                    "type": "synonym"
                },
                {
                    "name": "short chain dehydrogenase/reductase family 35C member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KDSR",
                    "type": "recommended"
                },
                {
                    "name": "DHSR",
                    "type": "synonym"
                },
                {
                    "name": "EKVP4",
                    "type": "synonym"
                },
                {
                    "name": "FVT1",
                    "type": "synonym"
                },
                {
                    "name": "KDSR",
                    "type": "synonym"
                },
                {
                    "name": "SDR35C1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06136-1",
            "evidence": [
                {
                    "id": "617526",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617526"
                },
                {
                    "id": "0080250",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080250"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38342-1",
            "uniprot_ac": "P38342",
            "uniprot_id": "KDSR_YEAST",
            "refseq_ac": "NP_009824",
            "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": "3-ketodihydrosphingosine reductase TSC10",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.102",
                    "type": "synonym"
                },
                {
                    "name": "3-dehydrosphinganine reductase",
                    "type": "synonym"
                },
                {
                    "name": "KDS reductase",
                    "type": "synonym"
                },
                {
                    "name": "Temperature-sensitive CSG2 suppressor protein 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TSC10",
                    "type": "recommended"
                },
                {
                    "name": "TSC10",
                    "type": "synonym"
                },
                {
                    "name": "YBR1734",
                    "type": "synonym"
                }
            ],
            "record_id": "P38342-1",
            "evidence": [
                {
                    "id": "0080250",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080250"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AMK1-1",
            "uniprot_ac": "A0A8I6AMK1",
            "uniprot_id": "A0A8I6AMK1_RAT",
            "refseq_ac": "XP_038946804",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "3-ketodihydrosphingosine reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.102",
                    "type": "synonym"
                },
                {
                    "name": "3-dehydrosphinganine reductase",
                    "type": "synonym"
                },
                {
                    "name": "3-ketodihydrosphingosine reductase isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kdsr",
                    "type": "recommended"
                },
                {
                    "name": "Fvt1",
                    "type": "synonym"
                },
                {
                    "name": "Kdsr",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AMK1-1",
            "evidence": [
                {
                    "id": "0080250",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080250"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VBU5-1",
            "uniprot_ac": "Q9VBU5",
            "uniprot_id": "Q9VBU5_DROME",
            "refseq_ac": "NP_651363",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "3-dehydrosphinganine reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.102",
                    "type": "synonym"
                },
                {
                    "name": "3-ketodihydrosphingosine reductase",
                    "type": "synonym"
                },
                {
                    "name": "CG10425-PA",
                    "type": "synonym"
                },
                {
                    "name": "Kdsr-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kdsr",
                    "type": "recommended"
                },
                {
                    "name": "CG10425",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10425",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10425",
                    "type": "synonym"
                },
                {
                    "name": "Kdsr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VBU5-1",
            "evidence": [
                {
                    "id": "0080250",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080250"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080250"
}