{
    "disease_id": "DOID:0060718",
    "recommended_name": {
        "id": "DOID:0060718",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060718",
        "name": "autosomal recessive congenital ichthyosis 9",
        "description": "An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26."
    },
    "synonyms": [
        {
            "id": "DOID:0060718",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060718",
            "name": "ARCI9",
            "description": ""
        },
        {
            "id": "MONDO:0014010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014010",
            "name": "autosomal recessive congenital ichthyosis 9",
            "description": "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CERS3 gene."
        },
        {
            "id": "MONDO:0014010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014010",
            "name": "ARCI9",
            "description": ""
        },
        {
            "id": "MONDO:0014010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014010",
            "name": "autosomal recessive congenital ichthyosis 9",
            "description": ""
        },
        {
            "id": "MONDO:0014010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014010",
            "name": "autosomal recessive congenital ichthyosis type 9",
            "description": ""
        },
        {
            "id": "MONDO:0014010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014010",
            "name": "ichthyosis, congenital, autosomal recessive type 9",
            "description": ""
        },
        {
            "id": "MONDO:0014010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014010",
            "name": "ichthyosis, congenital, autosomal recessive 9",
            "description": ""
        },
        {
            "id": "MIM:615023",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615023",
            "name": "Ichthyosis, congenital, autosomal recessive 9",
            "description": "Ichthyosis, congenital, autosomal recessive 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060718"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060718",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060718",
            "categories": []
        },
        {
            "id": "MONDO:0014010",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014010",
            "categories": []
        },
        {
            "id": "MIM:615023",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615023",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2B5Y1-1",
            "uniprot_ac": "A0A8M2B5Y1",
            "uniprot_id": "A0A8M2B5Y1_DANRE",
            "refseq_ac": "XP_005159054",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cers3b",
                    "type": "recommended"
                },
                {
                    "name": "cers3b",
                    "type": "synonym"
                },
                {
                    "name": "cers3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:171494",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B5Y1-1",
            "evidence": [
                {
                    "id": "0060718",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060718"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58G368-1",
            "uniprot_ac": "A0AC58G368",
            "uniprot_id": "A0AC58G368_DANRE",
            "refseq_ac": "XP_073764169",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ceramide synthase 3 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "ceramide synthase 3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cers3a",
                    "type": "recommended"
                },
                {
                    "name": "cers3a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58G368-1",
            "evidence": [
                {
                    "id": "0060718",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060718"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q1A3B0-1",
            "uniprot_ac": "Q1A3B0",
            "uniprot_id": "CERS3_MOUSE",
            "refseq_ac": "NP_001157673",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ceramide synthase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.24",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.297",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.298",
                    "type": "synonym"
                },
                {
                    "name": "CerS3",
                    "type": "synonym"
                },
                {
                    "name": "Dihydroceramide synthase 3",
                    "type": "synonym"
                },
                {
                    "name": "LAG1 homolog, ceramide synthase 3",
                    "type": "synonym"
                },
                {
                    "name": "LAG1 longevity assurance homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "Sphingosine N-acyltransferase CERS3",
                    "type": "synonym"
                },
                {
                    "name": "Ultra-long-chain ceramide synthase CERS3",
                    "type": "synonym"
                },
                {
                    "name": "Very-long-chain ceramide synthase CERS3",
                    "type": "synonym"
                },
                {
                    "name": "ceramide synthase 3",
                    "type": "synonym"
                },
                {
                    "name": "dihydroceramide synthase 3",
                    "type": "synonym"
                },
                {
                    "name": "longevity assurance homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "mCerS3",
                    "type": "synonym"
                },
                {
                    "name": "related to TRH3",
                    "type": "synonym"
                },
                {
                    "name": "sphingosine N-acyltransferase CERS3",
                    "type": "synonym"
                },
                {
                    "name": "ultra-long-chain ceramide synthase CERS3",
                    "type": "synonym"
                },
                {
                    "name": "very-long-chain ceramide synthase CERS3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cers3",
                    "type": "recommended"
                },
                {
                    "name": "4930550L11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cers3",
                    "type": "synonym"
                },
                {
                    "name": "Gm488",
                    "type": "synonym"
                },
                {
                    "name": "Lass3",
                    "type": "synonym"
                },
                {
                    "name": "T3L",
                    "type": "synonym"
                },
                {
                    "name": "mCerS3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1A3B0-1",
            "evidence": [
                {
                    "id": "0060718",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060718"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IU89-1",
            "uniprot_ac": "Q8IU89",
            "uniprot_id": "CERS3_HUMAN",
            "refseq_ac": "NP_001277270",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ceramide synthase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.24",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.297",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.298",
                    "type": "synonym"
                },
                {
                    "name": "CerS3",
                    "type": "synonym"
                },
                {
                    "name": "Dihydroceramide synthase 3",
                    "type": "synonym"
                },
                {
                    "name": "LAG1 homolog, ceramide synthase 3",
                    "type": "synonym"
                },
                {
                    "name": "LAG1 longevity assurance homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "Sphingosine N-acyltransferase CERS3",
                    "type": "synonym"
                },
                {
                    "name": "Ultra-long-chain ceramide synthase CERS3",
                    "type": "synonym"
                },
                {
                    "name": "Very-long-chain ceramide synthase CERS3",
                    "type": "synonym"
                },
                {
                    "name": "ceramide synthase 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dihydroceramide synthase 3",
                    "type": "synonym"
                },
                {
                    "name": "sphingosine N-acyltransferase CERS3",
                    "type": "synonym"
                },
                {
                    "name": "ultra-long-chain ceramide synthase CERS3",
                    "type": "synonym"
                },
                {
                    "name": "very-long-chain ceramide synthase CERS3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CERS3",
                    "type": "recommended"
                },
                {
                    "name": "ARCI9",
                    "type": "synonym"
                },
                {
                    "name": "CERS3",
                    "type": "synonym"
                },
                {
                    "name": "LASS3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IU89-1",
            "evidence": [
                {
                    "id": "615023",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615023"
                },
                {
                    "id": "0060718",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060718"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28496-1",
            "uniprot_ac": "P28496",
            "uniprot_id": "LAC1_YEAST",
            "refseq_ac": "NP_012917",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ceramide synthase LAC1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.297",
                    "type": "synonym"
                },
                {
                    "name": "Very-long-chain ceramide synthase LAC1",
                    "type": "synonym"
                },
                {
                    "name": "sphingosine N-acyltransferase LAC1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LAC1",
                    "type": "recommended"
                },
                {
                    "name": "DGT1",
                    "type": "synonym"
                },
                {
                    "name": "LAC1",
                    "type": "synonym"
                },
                {
                    "name": "YKL156",
                    "type": "synonym"
                }
            ],
            "record_id": "P28496-1",
            "evidence": [
                {
                    "id": "0060718",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060718"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38703-1",
            "uniprot_ac": "P38703",
            "uniprot_id": "LAG1_YEAST",
            "refseq_ac": "NP_011860",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ceramide synthase LAG1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.297",
                    "type": "synonym"
                },
                {
                    "name": "Longevity assurance factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Longevity assurance gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Longevity assurance protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Very-long-chain ceramide synthase LAG1",
                    "type": "synonym"
                },
                {
                    "name": "sphingosine N-acyltransferase LAG1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LAG1",
                    "type": "recommended"
                },
                {
                    "name": "LAG1",
                    "type": "synonym"
                }
            ],
            "record_id": "P38703-1",
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                {
                    "id": "0060718",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060718"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0M5E6-1",
            "uniprot_ac": "A0ABK0M5E6",
            "uniprot_id": "A0ABK0M5E6_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": "Ceramide synthase 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cers3",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0M5E6-1",
            "evidence": [
                {
                    "id": "0060718",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060718"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W423-1",
            "uniprot_ac": "Q9W423",
            "uniprot_id": "Q9W423_DROME",
            "refseq_ac": "NP_652526",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "2.3.1.24",
                    "type": "synonym"
                },
                {
                    "name": "CG3576-PB",
                    "type": "synonym"
                },
                {
                    "name": "Psc",
                    "type": "synonym"
                },
                {
                    "name": "Schlank, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Schlank, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "longevity assurance gene 1",
                    "type": "synonym"
                },
                {
                    "name": "schlank, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "schlank-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "schlank",
                    "type": "recommended"
                },
                {
                    "name": "CG15898",
                    "type": "synonym"
                },
                {
                    "name": "CG3576",
                    "type": "synonym"
                },
                {
                    "name": "CerS",
                    "type": "synonym"
                },
                {
                    "name": "DLAG1",
                    "type": "synonym"
                },
                {
                    "name": "DLag1",
                    "type": "synonym"
                },
                {
                    "name": "Dlag1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3576",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3576",
                    "type": "synonym"
                },
                {
                    "name": "Iag1",
                    "type": "synonym"
                },
                {
                    "name": "Lag1",
                    "type": "synonym"
                },
                {
                    "name": "Schlank",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0061",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0365",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0489",
                    "type": "synonym"
                },
                {
                    "name": "lag1",
                    "type": "synonym"
                },
                {
                    "name": "lon",
                    "type": "synonym"
                },
                {
                    "name": "schlank",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W423-1",
            "evidence": [
                {
                    "id": "0060718",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060718"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060718"
}