{
    "disease_id": "DOID:0060717",
    "recommended_name": {
        "id": "DOID:0060717",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060717",
        "name": "autosomal recessive congenital ichthyosis 8",
        "description": "An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23."
    },
    "synonyms": [
        {
            "id": "DOID:0060717",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060717",
            "name": "ARCI8",
            "description": ""
        },
        {
            "id": "DOID:0060717",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060717",
            "name": "lamellar ichthyosis 4",
            "description": ""
        },
        {
            "id": "DOID:0060717",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060717",
            "name": "late-onset lamellar ichthyosis",
            "description": ""
        },
        {
            "id": "MONDO:0013495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013495",
            "name": "autosomal recessive congenital ichthyosis 8",
            "description": "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the LIPN gene."
        },
        {
            "id": "MONDO:0013495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013495",
            "name": "ARCI8",
            "description": ""
        },
        {
            "id": "MONDO:0013495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013495",
            "name": "autosomal recessive congenital ichthyosis type 8",
            "description": ""
        },
        {
            "id": "MONDO:0013495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013495",
            "name": "ichthyosis, congenital, autosomal recessive type 8",
            "description": ""
        },
        {
            "id": "MONDO:0013495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013495",
            "name": "ichthyosis, congenital, autosomal recessive 8",
            "description": ""
        },
        {
            "id": "MONDO:0013495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013495",
            "name": "ichthyosis, lamellar, 4",
            "description": ""
        },
        {
            "id": "MIM:613943",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613943",
            "name": "Ichthyosis, congenital, autosomal recessive 8",
            "description": "Ichthyosis, congenital, autosomal recessive 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060717"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060717",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060717",
            "categories": []
        },
        {
            "id": "MONDO:0013495",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013495",
            "categories": []
        },
        {
            "id": "MIM:613943",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613943",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q3U4B4-1",
            "uniprot_ac": "Q3U4B4",
            "uniprot_id": "LIPN_MOUSE",
            "refseq_ac": "NP_081616",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lipase member N",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.13",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.3",
                    "type": "synonym"
                },
                {
                    "name": "Lipase-like abhydrolase domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "lipase member N precursor",
                    "type": "synonym"
                },
                {
                    "name": "lipase member N",
                    "type": "synonym"
                },
                {
                    "name": "lipase-like abhydrolase domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "lipase-like, ab-hydrolase domain containing 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lipn",
                    "type": "recommended"
                },
                {
                    "name": "2210418G03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Lipl4",
                    "type": "synonym"
                },
                {
                    "name": "Lipn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3U4B4-1",
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                    "id": "0060717",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060717"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5VXI9-1",
            "uniprot_ac": "Q5VXI9",
            "uniprot_id": "LIPN_HUMAN",
            "refseq_ac": "NP_001095939",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lipase member N",
                    "type": "recommended"
                },
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                    "name": "3.1.1.13",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.3",
                    "type": "synonym"
                },
                {
                    "name": "Lipase-like abhydrolase domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "lipase member N precursor",
                    "type": "synonym"
                },
                {
                    "name": "lipase-like abhydrolase domain-containing protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LIPN",
                    "type": "recommended"
                },
                {
                    "name": "ARCI8",
                    "type": "synonym"
                },
                {
                    "name": "LI4",
                    "type": "synonym"
                },
                {
                    "name": "LIPL4",
                    "type": "synonym"
                },
                {
                    "name": "LIPN",
                    "type": "synonym"
                },
                {
                    "name": "bA186O14.3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5VXI9-1",
            "evidence": [
                {
                    "id": "613943",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613943"
                },
                {
                    "id": "0060717",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060717"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P34163-1",
            "uniprot_ac": "P34163",
            "uniprot_id": "TGL1_YEAST",
            "refseq_ac": "NP_012782",
            "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": "Sterol esterase TGL1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.13",
                    "type": "synonym"
                },
                {
                    "name": "Triglyceride lipase-cholesterol esterase 1",
                    "type": "synonym"
                },
                {
                    "name": "sterol esterase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TGL1",
                    "type": "recommended"
                },
                {
                    "name": "TGL1",
                    "type": "synonym"
                },
                {
                    "name": "YKL5",
                    "type": "synonym"
                }
            ],
            "record_id": "P34163-1",
            "evidence": [
                {
                    "id": "0060717",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060717"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K430-1",
            "uniprot_ac": "A0A0G2K430",
            "uniprot_id": "A0A0G2K430_RAT",
            "refseq_ac": "NP_001178884",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lipase",
                    "type": "recommended"
                },
                {
                    "name": "lipase member N precursor",
                    "type": "synonym"
                },
                {
                    "name": "lipase member N",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lipn",
                    "type": "recommended"
                },
                {
                    "name": "Lipn",
                    "type": "synonym"
                },
                {
                    "name": "RGD1560354",
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                }
            ],
            "record_id": "A0A0G2K430-1",
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                {
                    "id": "0060717",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060717"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PCU5-1",
            "uniprot_ac": "M9PCU5",
            "uniprot_id": "M9PCU5_DROME",
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            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
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                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.3",
                    "type": "synonym"
                },
                {
                    "name": "CG6113-PC",
                    "type": "synonym"
                },
                {
                    "name": "Lip4-PC",
                    "type": "synonym"
                },
                {
                    "name": "Lipase 4, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "lipase 4, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "lipase 4",
                    "type": "synonym"
                },
                {
                    "name": "lipase4",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Lip4",
                    "type": "recommended"
                },
                {
                    "name": "CG6113",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6113",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6113",
                    "type": "synonym"
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                    "type": "synonym"
                },
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                    "type": "synonym"
                },
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                    "name": "lip4",
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                }
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                {
                    "id": "0060717",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060717"
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        {
            "uniprot_canonical_ac": "Q9VKS5-1",
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                {
                    "name": "Drosophila melanogaster",
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                }
            ],
            "protein_names": [
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                    "name": "Partial AB-hydrolase lipase domain-containing protein",
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                    "name": "uncharacterized protein",
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                }
            ],
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                    "name": "CG17099",
                    "type": "recommended"
                },
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                    "name": "CG17087",
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                },
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                    "name": "CG31871",
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                {
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                    "id": "0060717",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060717"
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                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
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            ],
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                    "name": "CG7329-PB",
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                {
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                    "type": "synonym"
                }
            ],
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                {
                    "name": "Dmel\\CG7329",
                    "type": "recommended"
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                {
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                {
                    "name": "Dmel_CG7329",
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                {
                    "name": "ORE-4",
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                {
                    "id": "0060717",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060717"
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        },
        {
            "uniprot_canonical_ac": "O46108-1",
            "uniprot_ac": "O46108",
            "uniprot_id": "LIP3_DROME",
            "refseq_ac": "NP_477331",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "Lipase 3",
                    "type": "recommended"
                },
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                    "name": "3.1.1.-",
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                },
                {
                    "name": "CG8823-PA",
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                },
                {
                    "name": "DmLip3",
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                {
                    "name": "Lip3-PA",
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                },
                {
                    "name": "Lipase-3",
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                {
                    "name": "dLipase-3",
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            ],
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                    "name": "Lip3",
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                    "name": "CG8823",
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                },
                {
                    "name": "Dmel\\CG8823",
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                    "id": "0060717",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060717"
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        {
            "uniprot_canonical_ac": "Q9VKT8-1",
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                }
            ],
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            ],
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                    "name": "Dmel\\CG18301",
                    "type": "recommended"
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                {
                    "name": "Dmel_CG18301",
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                    "id": "0060717",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060717"
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            "uniprot_ac": "Q9VBK6",
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            "glycoprotein": "yes",
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                {
                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "Lipase",
                    "type": "recommended"
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                {
                    "name": "CG31089-PA",
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                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
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            ],
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                    "name": "CG5990",
                    "type": "recommended"
                },
                {
                    "name": "CG31089",
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                },
                {
                    "name": "CG5990",
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                {
                    "name": "Dmel\\CG31089",
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                },
                {
                    "name": "Dmel_CG31089",
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            ],
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                {
                    "id": "0060717",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060717"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060717"
}