{
    "disease_id": "DOID:0080217",
    "recommended_name": {
        "id": "DOID:0080217",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080217",
        "name": "lysosomal acid lipase deficiency",
        "description": "A lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that has_material_basis_in homozygous or compound heterozygous mutation in the LIPA gene on chromosome 10q23.31."
    },
    "synonyms": [
        {
            "id": "DOID:0080217",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080217",
            "name": "LAL deficiency",
            "description": ""
        },
        {
            "id": "DOID:0080217",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080217",
            "name": "LAL-D",
            "description": ""
        },
        {
            "id": "MONDO:0019149",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019149",
            "name": "cholesteryl ester storage disease",
            "description": "A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia."
        },
        {
            "id": "MONDO:0019149",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019149",
            "name": "LAL deficiency, partial",
            "description": ""
        },
        {
            "id": "MONDO:0019149",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019149",
            "name": "LIPA deficiency, partial",
            "description": ""
        },
        {
            "id": "MONDO:0019149",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019149",
            "name": "cholesterol ester hydrolase deficiency, partial",
            "description": ""
        },
        {
            "id": "MONDO:0019149",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019149",
            "name": "cholesterol ester storage disease",
            "description": ""
        },
        {
            "id": "MONDO:0019149",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019149",
            "name": "lysosomal acid lipase deficiency, partial",
            "description": ""
        },
        {
            "id": "MONDO:0019149",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019149",
            "name": "CESD",
            "description": ""
        },
        {
            "id": "MIM:278000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/278000",
            "name": "Cholesteryl ester storage disease",
            "description": "Cholesteryl ester storage disease"
        }
    ],
    "children": [
        {
            "id": "DOID:14497",
            "label": "Wolman disease",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:14502",
            "label": "cholesterol ester storage disease",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080217",
        "DOID:14497",
        "DOID:14502"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080217",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080217",
            "categories": []
        },
        {
            "id": "MONDO:0019149",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019149",
            "categories": []
        },
        {
            "id": "MIM:278000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/278000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Z0M5-1",
            "uniprot_ac": "Q9Z0M5",
            "uniprot_id": "LICH_MOUSE",
            "refseq_ac": "NP_001104570",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysosomal acid lipase/cholesteryl ester hydrolase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.13",
                    "type": "synonym"
                },
                {
                    "name": "Acid cholesteryl ester hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Cholesteryl esterase",
                    "type": "synonym"
                },
                {
                    "name": "Diacylglycerol lipase",
                    "type": "synonym"
                },
                {
                    "name": "LAL",
                    "type": "synonym"
                },
                {
                    "name": "Lipase A",
                    "type": "synonym"
                },
                {
                    "name": "Sterol esterase",
                    "type": "synonym"
                },
                {
                    "name": "Triacylglycerol ester hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Triacylglycerol lipase",
                    "type": "synonym"
                },
                {
                    "name": "acid cholesteryl ester hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "cholesteryl esterase",
                    "type": "synonym"
                },
                {
                    "name": "diacylglycerol lipase",
                    "type": "synonym"
                },
                {
                    "name": "lipase A",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal acid lipase 1",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal acid lipase A",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal acid lipase/cholesteryl ester hydrolase precursor",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal acid lipase/cholesteryl ester hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "sterol esterase",
                    "type": "synonym"
                },
                {
                    "name": "triacylglycerol ester hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "triacylglycerol lipase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lipa",
                    "type": "recommended"
                },
                {
                    "name": "Lal",
                    "type": "synonym"
                },
                {
                    "name": "Lip-1",
                    "type": "synonym"
                },
                {
                    "name": "Lip1",
                    "type": "synonym"
                },
                {
                    "name": "Lipa",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z0M5-1",
            "evidence": [
                {
                    "id": "0080217",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080217"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38571-1",
            "uniprot_ac": "P38571",
            "uniprot_id": "LICH_HUMAN",
            "refseq_ac": "NP_000226",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysosomal acid lipase/cholesteryl ester hydrolase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.13",
                    "type": "synonym"
                },
                {
                    "name": "Acid cholesteryl ester hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Cholesteryl esterase",
                    "type": "synonym"
                },
                {
                    "name": "Diacylglycerol lipase",
                    "type": "synonym"
                },
                {
                    "name": "LAL",
                    "type": "synonym"
                },
                {
                    "name": "Lipase A",
                    "type": "synonym"
                },
                {
                    "name": "Sterol esterase",
                    "type": "synonym"
                },
                {
                    "name": "Triacylglycerol ester hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Triacylglycerol lipase",
                    "type": "synonym"
                },
                {
                    "name": "acid cholesteryl ester hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "cholesterol ester hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "cholesteryl esterase",
                    "type": "synonym"
                },
                {
                    "name": "diacylglycerol lipase",
                    "type": "synonym"
                },
                {
                    "name": "lipase A, lysosomal acid, cholesterol esterase",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal acid lipase/cholesteryl ester hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal acid lipase",
                    "type": "synonym"
                },
                {
                    "name": "sterol esterase",
                    "type": "synonym"
                },
                {
                    "name": "triacylglycerol ester hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "triacylglycerol lipase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LIPA",
                    "type": "recommended"
                },
                {
                    "name": "CESD",
                    "type": "synonym"
                },
                {
                    "name": "LAL",
                    "type": "synonym"
                },
                {
                    "name": "LIPA",
                    "type": "synonym"
                }
            ],
            "record_id": "P38571-1",
            "evidence": [
                {
                    "id": "278000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/278000"
                },
                {
                    "id": "0080217",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080217"
                }
            ]
        },
        {
            "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": "0080217",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080217"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64194-1",
            "uniprot_ac": "Q64194",
            "uniprot_id": "LICH_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": "Lysosomal acid lipase/cholesteryl ester hydrolase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.13",
                    "type": "synonym"
                },
                {
                    "name": "Acid cholesteryl ester hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Cholesteryl esterase",
                    "type": "synonym"
                },
                {
                    "name": "Diacylglycerol lipase",
                    "type": "synonym"
                },
                {
                    "name": "LAL",
                    "type": "synonym"
                },
                {
                    "name": "Lipase A",
                    "type": "synonym"
                },
                {
                    "name": "Sterol esterase",
                    "type": "synonym"
                },
                {
                    "name": "Triacylglycerol ester hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Triacylglycerol lipase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lipa",
                    "type": "recommended"
                },
                {
                    "name": "Lal",
                    "type": "synonym"
                },
                {
                    "name": "Lip1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080217",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080217"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VKS9-1",
            "uniprot_ac": "Q9VKS9",
            "uniprot_id": "Q9VKS9_DROME",
            "refseq_ac": "NP_001285807",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Partial AB-hydrolase lipase domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG18284-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Acp",
                    "type": "recommended"
                },
                {
                    "name": "Acp",
                    "type": "synonym"
                },
                {
                    "name": "BEST:GH10507",
                    "type": "synonym"
                },
                {
                    "name": "CG18284",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18284",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18284",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VKS9-1",
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                {
                    "id": "0080217",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080217"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VKT2-1",
            "uniprot_ac": "Q9VKT2",
            "uniprot_id": "Q9VKT2_DROME",
            "refseq_ac": "NP_001260357",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "AB hydrolase-1 domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG7329-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG7329",
                    "type": "recommended"
                },
                {
                    "name": "CG7329",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7329",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7329",
                    "type": "synonym"
                },
                {
                    "name": "ORE-4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VKT2-1",
            "evidence": [
                {
                    "id": "0080217",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080217"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O46108-1",
            "uniprot_ac": "O46108",
            "uniprot_id": "LIP3_DROME",
            "refseq_ac": "NP_477331",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lipase 3",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "CG8823-PA",
                    "type": "synonym"
                },
                {
                    "name": "DmLip3",
                    "type": "synonym"
                },
                {
                    "name": "Lip3-PA",
                    "type": "synonym"
                },
                {
                    "name": "Lipase-3",
                    "type": "synonym"
                },
                {
                    "name": "dLipase-3",
                    "type": "synonym"
                },
                {
                    "name": "lipase 3",
                    "type": "synonym"
                },
                {
                    "name": "lipase3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lip3",
                    "type": "recommended"
                },
                {
                    "name": "CG8823",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8823",
                    "type": "synonym"
                },
                {
                    "name": "Dmlip3",
                    "type": "synonym"
                },
                {
                    "name": "LIP3Dm",
                    "type": "synonym"
                },
                {
                    "name": "LIP3",
                    "type": "synonym"
                },
                {
                    "name": "Lip3",
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                },
                {
                    "name": "dLip3",
                    "type": "synonym"
                },
                {
                    "name": "lip3",
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                }
            ],
            "record_id": "O46108-1",
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                {
                    "id": "0080217",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080217"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VG46-1",
            "uniprot_ac": "Q9VG46",
            "uniprot_id": "Q9VG46_DROME",
            "refseq_ac": "NP_650219",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lipase",
                    "type": "recommended"
                },
                {
                    "name": "CG6753-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG6753",
                    "type": "recommended"
                },
                {
                    "name": "CG6753",
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                },
                {
                    "name": "Dmel\\CG6753",
                    "type": "synonym"
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                {
                    "name": "Dmel_CG6753",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080217",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080217"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V9N3-1",
            "uniprot_ac": "Q9V9N3",
            "uniprot_id": "Q9V9N3_DROME",
            "refseq_ac": "NP_610138",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lipase",
                    "type": "recommended"
                },
                {
                    "name": "CG3635-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG3635",
                    "type": "recommended"
                },
                {
                    "name": "CG3635",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3635",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3635",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V9N3-1",
            "evidence": [
                {
                    "id": "0080217",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080217"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VG48-1",
            "uniprot_ac": "Q9VG48",
            "uniprot_id": "Q9VG48_DROME",
            "refseq_ac": "NP_650217",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lipase",
                    "type": "recommended"
                },
                {
                    "name": "CG11600-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG11600",
                    "type": "recommended"
                },
                {
                    "name": "CG11600",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11600",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11600",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VG48-1",
            "evidence": [
                {
                    "id": "0080217",
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    "glycans": [],
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    "association_flag": "1000",
    "record_id": "doid.0080217"
}