{
    "disease_id": "DOID:0080257",
    "recommended_name": {
        "id": "DOID:0080257",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080257",
        "name": "autosomal recessive congenital ichthyosis 13",
        "description": "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous mutation in the SDR9C7 gene on chromosome 12q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0033092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033092",
            "name": "ichthyosis, congenital, autosomal recessive 13",
            "description": ""
        },
        {
            "id": "MONDO:0033092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033092",
            "name": "ichthyosis, congenital, autosomal recessive 13",
            "description": ""
        },
        {
            "id": "MONDO:0033092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033092",
            "name": "ARCI13",
            "description": ""
        },
        {
            "id": "MIM:617574",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617574",
            "name": "Ichthyosis, congenital, autosomal recessive 13",
            "description": "Ichthyosis, congenital, autosomal recessive 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080257"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080257",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080257",
            "categories": []
        },
        {
            "id": "MONDO:0033092",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033092",
            "categories": []
        },
        {
            "id": "MIM:617574",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617574",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8K3P0-1",
            "uniprot_ac": "Q8K3P0",
            "uniprot_id": "DR9C7_MOUSE",
            "refseq_ac": "NP_081577",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Short-chain dehydrogenase/reductase family 9C member 7",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "O-acylceramide dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Orphan short-chain dehydrogenase/reductase",
                    "type": "synonym"
                },
                {
                    "name": "RDH-S",
                    "type": "synonym"
                },
                {
                    "name": "SDR-O",
                    "type": "synonym"
                },
                {
                    "name": "SDR9C7",
                    "type": "synonym"
                },
                {
                    "name": "orphan short chain dehydrogenase/reductase",
                    "type": "synonym"
                },
                {
                    "name": "retinol dehydrogenase 20",
                    "type": "synonym"
                },
                {
                    "name": "short-chain dehydrogenase/reductase family 9C member 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sdr9c7",
                    "type": "recommended"
                },
                {
                    "name": "1810054F20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rdh20",
                    "type": "synonym"
                },
                {
                    "name": "Rdhs",
                    "type": "synonym"
                },
                {
                    "name": "SDR-O",
                    "type": "synonym"
                },
                {
                    "name": "Sdr9c7",
                    "type": "synonym"
                },
                {
                    "name": "Sdro",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K3P0-1",
            "evidence": [
                {
                    "id": "0080257",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080257"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NEX9-1",
            "uniprot_ac": "Q8NEX9",
            "uniprot_id": "DR9C7_HUMAN",
            "refseq_ac": "NP_683695",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Short-chain dehydrogenase/reductase family 9C member 7",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "O-acylceramide dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Orphan short-chain dehydrogenase/reductase",
                    "type": "synonym"
                },
                {
                    "name": "RDH-S",
                    "type": "synonym"
                },
                {
                    "name": "SDR-O",
                    "type": "synonym"
                },
                {
                    "name": "SDR9C7",
                    "type": "synonym"
                },
                {
                    "name": "orphan short-chain dehydrogenase / reductase",
                    "type": "synonym"
                },
                {
                    "name": "orphan short-chain dehydrogenase/reductase",
                    "type": "synonym"
                },
                {
                    "name": "retinol dehydrogenase similar protein",
                    "type": "synonym"
                },
                {
                    "name": "short-chain dehydrogenase/reductase family 9C member 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SDR9C7",
                    "type": "recommended"
                },
                {
                    "name": "ARCI13",
                    "type": "synonym"
                },
                {
                    "name": "RDHS",
                    "type": "synonym"
                },
                {
                    "name": "SDR-O",
                    "type": "synonym"
                },
                {
                    "name": "SDR9C7",
                    "type": "synonym"
                },
                {
                    "name": "SDRO",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NEX9-1",
            "evidence": [
                {
                    "id": "617574",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617574"
                },
                {
                    "id": "0080257",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080257"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40471-1",
            "uniprot_ac": "P40471",
            "uniprot_id": "AYR1_YEAST",
            "refseq_ac": "NP_012142",
            "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": "NADPH-dependent 1-acyldihydroxyacetone phosphate reductase",
                    "type": "recommended"
                },
                {
                    "name": "1-acyl DHAP reductase",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.101",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.3",
                    "type": "synonym"
                },
                {
                    "name": "ADR",
                    "type": "synonym"
                },
                {
                    "name": "Acyl/alkyl DHAP reductase",
                    "type": "synonym"
                },
                {
                    "name": "Acylglycerone-phosphate reductase",
                    "type": "synonym"
                },
                {
                    "name": "TAG lipase",
                    "type": "synonym"
                },
                {
                    "name": "Triacylglycerol lipase AYR1",
                    "type": "synonym"
                },
                {
                    "name": "acylglycerone-phosphate reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AYR1",
                    "type": "recommended"
                },
                {
                    "name": "AYR1",
                    "type": "synonym"
                },
                {
                    "name": "GBG1",
                    "type": "synonym"
                }
            ],
            "record_id": "P40471-1",
            "evidence": [
                {
                    "id": "0080257",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080257"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LHZ4-1",
            "uniprot_ac": "A0ABK0LHZ4",
            "uniprot_id": "A0ABK0LHZ4_RAT",
            "refseq_ac": "XP_006241577",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "4short chain dehydrogenase/reductase family 9C, member 7",
                    "type": "synonym"
                },
                {
                    "name": "short-chain dehydrogenase/reductase family 9C member 7 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sdr9c7",
                    "type": "recommended"
                },
                {
                    "name": "Sdr9c7",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LHZ4-1",
            "evidence": [
                {
                    "id": "0080257",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080257"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080257"
}