{
    "disease_id": "DOID:0110957",
    "recommended_name": {
        "id": "DOID:0110957",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110957",
        "name": "Gaucher's disease type I",
        "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110957",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110957",
            "name": "Acid Beta-Glucosidase Deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110957",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110957",
            "name": "GD I",
            "description": ""
        },
        {
            "id": "DOID:0110957",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110957",
            "name": "Gaucher Disease, Noncerebral Juvenile",
            "description": ""
        },
        {
            "id": "DOID:0110957",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110957",
            "name": "Gba Deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110957",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110957",
            "name": "Glucocerebrosidase Deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110957",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110957",
            "name": "GD1",
            "description": ""
        },
        {
            "id": "MONDO:0009265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009265",
            "name": "Gaucher disease type I",
            "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia."
        },
        {
            "id": "MONDO:0009265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009265",
            "name": "Gaucher disease type I",
            "description": ""
        },
        {
            "id": "MONDO:0009265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009265",
            "name": "Gaucher disease, noncerebral juvenile",
            "description": ""
        },
        {
            "id": "MONDO:0009265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009265",
            "name": "Gaucher's disease type I",
            "description": ""
        },
        {
            "id": "MONDO:0009265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009265",
            "name": "Gba deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009265",
            "name": "acid Beta-glucosidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009265",
            "name": "non-cerebral juvenile Gaucher disease",
            "description": ""
        },
        {
            "id": "MIM:230800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/230800",
            "name": "Gaucher disease 1",
            "description": "Gaucher disease 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110957"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110957",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110957",
            "categories": []
        },
        {
            "id": "MONDO:0009265",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009265",
            "categories": []
        },
        {
            "id": "MIM:230800",
            "database": "MIM",
            "url": "https://www.omim.org/entry/230800",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7EZM1-1",
            "uniprot_ac": "E7EZM1",
            "uniprot_id": "E7EZM1_DANRE",
            "refseq_ac": "XP_073782044",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucosylceramidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.45",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal acid glucosylceramidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gba1",
                    "type": "recommended"
                },
                {
                    "name": "gba1",
                    "type": "synonym"
                }
            ],
            "record_id": "E7EZM1-1",
            "evidence": [
                {
                    "id": "0110957",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110957"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17439-1",
            "uniprot_ac": "P17439",
            "uniprot_id": "GBA1_MOUSE",
            "refseq_ac": "NP_001070879",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysosomal acid glucosylceramidase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "3.2.1.-",
                    "type": "synonym"
                },
                {
                    "name": "3.2.1.45",
                    "type": "synonym"
                },
                {
                    "name": "3.2.1.46",
                    "type": "synonym"
                },
                {
                    "name": "Acid beta-glucosidase",
                    "type": "synonym"
                },
                {
                    "name": "Beta-glucocerebrosidase",
                    "type": "synonym"
                },
                {
                    "name": "Cholesterol glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Cholesteryl-beta-glucosidase",
                    "type": "synonym"
                },
                {
                    "name": "D-glucosyl-N-acylsphingosine glucohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Lysosomal acid GCase",
                    "type": "synonym"
                },
                {
                    "name": "Lysosomal cholesterol glycosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Lysosomal galactosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "Lysosomal glycosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "SGTase",
                    "type": "synonym"
                },
                {
                    "name": "acid beta glucosidase",
                    "type": "synonym"
                },
                {
                    "name": "beta-glucocerebrosidase",
                    "type": "synonym"
                },
                {
                    "name": "cholesterol glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "cholesteryl-beta-glucosidase",
                    "type": "synonym"
                },
                {
                    "name": "glucosidase, beta, acid",
                    "type": "synonym"
                },
                {
                    "name": "glucosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal acid GCase",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal acid glucosylceramidase isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal acid glucosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal cholesterol glycosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal galactosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal glycosylceramidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gba1",
                    "type": "recommended"
                },
                {
                    "name": "GCase",
                    "type": "synonym"
                },
                {
                    "name": "GC",
                    "type": "synonym"
                },
                {
                    "name": "GLUC",
                    "type": "synonym"
                },
                {
                    "name": "Gba1",
                    "type": "synonym"
                },
                {
                    "name": "Gba",
                    "type": "synonym"
                },
                {
                    "name": "betaGC",
                    "type": "synonym"
                }
            ],
            "record_id": "P17439-1",
            "evidence": [
                {
                    "id": "0110957",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110957"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04062-1",
            "uniprot_ac": "P04062",
            "uniprot_id": "GBA1_HUMAN",
            "refseq_ac": "NP_000148",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysosomal acid glucosylceramidase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "3.2.1.-",
                    "type": "synonym"
                },
                {
                    "name": "3.2.1.45",
                    "type": "synonym"
                },
                {
                    "name": "3.2.1.46",
                    "type": "synonym"
                },
                {
                    "name": "Acid beta-glucosidase",
                    "type": "synonym"
                },
                {
                    "name": "Alglucerase",
                    "type": "synonym"
                },
                {
                    "name": "Beta-GC",
                    "type": "synonym"
                },
                {
                    "name": "Beta-glucocerebrosidase",
                    "type": "synonym"
                },
                {
                    "name": "Beta-glucosylceramidase 1",
                    "type": "synonym"
                },
                {
                    "name": "Cholesterol glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Cholesteryl-beta-glucosidase",
                    "type": "synonym"
                },
                {
                    "name": "D-glucosyl-N-acylsphingosine glucohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Glucosylceramidase beta 1",
                    "type": "synonym"
                },
                {
                    "name": "Imiglucerase",
                    "type": "synonym"
                },
                {
                    "name": "Lysosomal acid GCase",
                    "type": "synonym"
                },
                {
                    "name": "Lysosomal cholesterol glycosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Lysosomal galactosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "Lysosomal glycosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "SGTase",
                    "type": "synonym"
                },
                {
                    "name": "acid beta-glucosidase",
                    "type": "synonym"
                },
                {
                    "name": "alglucerase",
                    "type": "synonym"
                },
                {
                    "name": "beta-GC",
                    "type": "synonym"
                },
                {
                    "name": "beta-glucocerebrosidase",
                    "type": "synonym"
                },
                {
                    "name": "beta-glucosylceramidase 1",
                    "type": "synonym"
                },
                {
                    "name": "cholesterol glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "cholesteryl-beta-glucosidase",
                    "type": "synonym"
                },
                {
                    "name": "glucosidase, beta, acid",
                    "type": "synonym"
                },
                {
                    "name": "glucosylceramidase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "imiglucerase",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal acid GCase",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal acid glucosylceramidase isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal acid glucosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal cholesterol glycosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal galactosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal glucocerebrosidase",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal glycosylceramidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GBA1",
                    "type": "recommended"
                },
                {
                    "name": "GBA1",
                    "type": "synonym"
                },
                {
                    "name": "GBA",
                    "type": "synonym"
                },
                {
                    "name": "GCB",
                    "type": "synonym"
                },
                {
                    "name": "GC",
                    "type": "synonym"
                },
                {
                    "name": "GLUC",
                    "type": "synonym"
                }
            ],
            "record_id": "P04062-1",
            "evidence": [
                {
                    "id": "0009265",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009265"
                },
                {
                    "id": "230800",
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                    "url": "https://www.omim.org/entry/230800"
                },
                {
                    "id": "0110957",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110957"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0R3L8-1",
            "uniprot_ac": "M0R3L8",
            "uniprot_id": "M0R3L8_RAT",
            "refseq_ac": "NP_001121111",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucosylceramidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.45",
                    "type": "synonym"
                },
                {
                    "name": "glucocerebrosidase",
                    "type": "synonym"
                },
                {
                    "name": "glucosidase, beta, acid",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal acid glucosylceramidase precursor",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal acid glucosylceramidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gba1",
                    "type": "recommended"
                },
                {
                    "name": "Gba1",
                    "type": "synonym"
                },
                {
                    "name": "Gba",
                    "type": "synonym"
                }
            ],
            "record_id": "M0R3L8-1",
            "evidence": [
                {
                    "id": "0110957",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110957"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IMY3-1",
            "uniprot_ac": "Q8IMY3",
            "uniprot_id": "Q8IMY3_DROME",
            "refseq_ac": "NP_001097888",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucosylceramidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.45",
                    "type": "synonym"
                },
                {
                    "name": "CG31414-PB",
                    "type": "synonym"
                },
                {
                    "name": "Gba1b-PB",
                    "type": "synonym"
                },
                {
                    "name": "glucocerebrosidase 1b, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "glucosylceramidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gba1b",
                    "type": "recommended"
                },
                {
                    "name": "CG10299",
                    "type": "synonym"
                },
                {
                    "name": "CG31414",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31414",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31414",
                    "type": "synonym"
                },
                {
                    "name": "GBA1b",
                    "type": "synonym"
                },
                {
                    "name": "GBA",
                    "type": "synonym"
                },
                {
                    "name": "Gba1b",
                    "type": "synonym"
                },
                {
                    "name": "dGBA1b",
                    "type": "synonym"
                },
                {
                    "name": "dGba1",
                    "type": "synonym"
                },
                {
                    "name": "gba2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IMY3-1",
            "evidence": [
                {
                    "id": "0110957",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110957"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VCJ4-1",
            "uniprot_ac": "Q9VCJ4",
            "uniprot_id": "Q9VCJ4_DROME",
            "refseq_ac": "NP_651172",
            "glycoprotein": "no",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucosylceramidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.45",
                    "type": "synonym"
                },
                {
                    "name": "CG31148-PA",
                    "type": "synonym"
                },
                {
                    "name": "Gba1a-PA",
                    "type": "synonym"
                },
                {
                    "name": "glucocerebrosidase 1a",
                    "type": "synonym"
                },
                {
                    "name": "glucosylceramidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gba1a",
                    "type": "recommended"
                },
                {
                    "name": "CG10299",
                    "type": "synonym"
                },
                {
                    "name": "CG31148",
                    "type": "synonym"
                },
                {
                    "name": "CT28913",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31148",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31148",
                    "type": "synonym"
                },
                {
                    "name": "GBA1a",
                    "type": "synonym"
                },
                {
                    "name": "GBA",
                    "type": "synonym"
                },
                {
                    "name": "Gba1a",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0140519.234",
                    "type": "synonym"
                },
                {
                    "name": "dGBA1a",
                    "type": "synonym"
                },
                {
                    "name": "dGba1",
                    "type": "synonym"
                },
                {
                    "name": "gba1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VCJ4-1",
            "evidence": [
                {
                    "id": "0110957",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110957"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110957"
}