{
    "disease_id": "DOID:0060719",
    "recommended_name": {
        "id": "DOID:0060719",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060719",
        "name": "autosomal recessive congenital ichthyosis 10",
        "description": "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21."
    },
    "synonyms": [
        {
            "id": "DOID:0060719",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060719",
            "name": "ARCI10",
            "description": ""
        },
        {
            "id": "MONDO:0014011",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014011",
            "name": "autosomal recessive congenital ichthyosis 10",
            "description": "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene."
        },
        {
            "id": "MONDO:0014011",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014011",
            "name": "ARCI10",
            "description": ""
        },
        {
            "id": "MONDO:0014011",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014011",
            "name": "autosomal recessive congenital ichthyosis type 10",
            "description": ""
        },
        {
            "id": "MONDO:0014011",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014011",
            "name": "ichthyosis, congenital, autosomal recessive type 10",
            "description": ""
        },
        {
            "id": "MONDO:0014011",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014011",
            "name": "ichthyosis, congenital, autosomal recessive 10",
            "description": ""
        },
        {
            "id": "MIM:615024",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615024",
            "name": "Ichthyosis, congenital, autosomal recessive 10",
            "description": "Ichthyosis, congenital, autosomal recessive 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060719"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060719",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060719",
            "categories": []
        },
        {
            "id": "MONDO:0014011",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014011",
            "categories": []
        },
        {
            "id": "MIM:615024",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615024",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q3V1D5-1",
            "uniprot_ac": "Q3V1D5",
            "uniprot_id": "PLPL1_MOUSE",
            "refseq_ac": "NP_001030057",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Omega-hydroxyceramide transacylase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.296",
                    "type": "synonym"
                },
                {
                    "name": "Patatin-like phospholipase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "omega-hydroxyceramide transacylase",
                    "type": "synonym"
                },
                {
                    "name": "patatin-like phospholipase domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pnpla1",
                    "type": "recommended"
                },
                {
                    "name": "Pnpla1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3V1D5-1",
            "evidence": [
                {
                    "id": "0060719",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060719"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N8W4-1",
            "uniprot_ac": "Q8N8W4",
            "uniprot_id": "PLPL1_HUMAN",
            "refseq_ac": "NP_001139188",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Omega-hydroxyceramide transacylase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.296",
                    "type": "synonym"
                },
                {
                    "name": "Patatin-like phospholipase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "omega-hydroxyceramide transacylase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "omega-hydroxyceramide transacylase",
                    "type": "synonym"
                },
                {
                    "name": "patatin like phospholipase domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "patatin-like phospholipase domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PNPLA1",
                    "type": "recommended"
                },
                {
                    "name": "ARCI10",
                    "type": "synonym"
                },
                {
                    "name": "PNPLA1",
                    "type": "synonym"
                },
                {
                    "name": "dJ50J22.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N8W4-1",
            "evidence": [
                {
                    "id": "615024",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615024"
                },
                {
                    "id": "0060719",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060719"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A3G9-1",
            "uniprot_ac": "D4A3G9",
            "uniprot_id": "D4A3G9_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Omega-hydroxyceramide transacylase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.296",
                    "type": "synonym"
                },
                {
                    "name": "Patatin-like phospholipase domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pnpla1",
                    "type": "recommended"
                }
            ],
            "record_id": "D4A3G9-1",
            "evidence": [
                {
                    "id": "0060719",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060719"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E1JI03-1",
            "uniprot_ac": "E1JI03",
            "uniprot_id": "E1JI03_DROME",
            "refseq_ac": "NP_001163445",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "triacylglycerol lipase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.3",
                    "type": "synonym"
                },
                {
                    "name": "CG5295-PB",
                    "type": "synonym"
                },
                {
                    "name": "DmATGL",
                    "type": "synonym"
                },
                {
                    "name": "adipocyte triglyceride lipase",
                    "type": "synonym"
                },
                {
                    "name": "adipose triglyceride lipase",
                    "type": "synonym"
                },
                {
                    "name": "bmm-PB",
                    "type": "synonym"
                },
                {
                    "name": "brummer TAG lipase",
                    "type": "synonym"
                },
                {
                    "name": "brummer lipase",
                    "type": "synonym"
                },
                {
                    "name": "brummer, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bmm",
                    "type": "recommended"
                },
                {
                    "name": "ATGL",
                    "type": "synonym"
                },
                {
                    "name": "Atgl",
                    "type": "synonym"
                },
                {
                    "name": "BMM",
                    "type": "synonym"
                },
                {
                    "name": "Bmm",
                    "type": "synonym"
                },
                {
                    "name": "CG5295",
                    "type": "synonym"
                },
                {
                    "name": "DmATGL",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5295",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5295",
                    "type": "synonym"
                },
                {
                    "name": "SCAP",
                    "type": "synonym"
                },
                {
                    "name": "TGL",
                    "type": "synonym"
                },
                {
                    "name": "bmm",
                    "type": "synonym"
                }
            ],
            "record_id": "E1JI03-1",
            "evidence": [
                {
                    "id": "0060719",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060719"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060719"
}