{ "batchid": 6, "recordid": "P04062-1", "recordtype": "protein", "sections": { "snv": [ { "evidence": [ { "id": "rs1178732315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1178732315" }, { "id": "rs1178732315", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1178732315#frequency_tab" }, { "id": "rs1178732315", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1178732315" } ], "glycoeffect": [], "start_pos": 363, "end_pos": 363, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236381", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L363", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] } ] }, { "evidence": [ { "id": "rs1272814464", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1272814464" }, { "id": "rs1272814464", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1272814464" } ], "glycoeffect": [], "start_pos": 363, "end_pos": 363, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236382", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L363", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs121908305", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908305" }, { "id": "rs121908305", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121908305" }, { "id": "2269438", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/2269438" } ], "glycoeffect": [], "start_pos": 364, "end_pos": 364, "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "R", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "1", "chr_pos": "155236379", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G364", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type IIIC", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type IIIC", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type IIIC", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body variant of Alzheimer disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease with gaze palsy", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body variant of Alzheimer disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease with gaze palsy", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body variant of Alzheimer disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease with gaze palsy", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs80317710", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs80317710" }, { "id": "rs80317710", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs80317710#frequency_tab" }, { "id": "rs80317710", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs80317710" } ], "glycoeffect": [], "start_pos": 365, "end_pos": 365, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236374", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E365", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2230288", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2230288" }, { "id": "rs2230288", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2230288" }, { "id": "rs2230288", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2230288" }, { "id": "rs2230288", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2230288#frequency_tab" }, { "id": "rs2230288", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2230288" }, { "id": "10079102", "database": "PubMed", "url": "" }, { "id": "11903352", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11903352" }, { "id": "15146461", "database": "PubMed", "url": "" }, { "id": "1864608", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1864608" }, { "id": "31827228", "database": "PubMed", "url": "" } ], "glycoeffect": [], "start_pos": 365, "end_pos": 365, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236376", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E365", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ] }, { "evidence": [ { "id": "rs1185464941", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1185464941" }, { "id": "rs1185464941", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1185464941" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 366, "end_pos": 366, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236373", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T366", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [], "start_pos": 367, "end_pos": 367, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "H", "sequence_mut": "R", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "1", "chr_pos": "155236369", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "H367", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs374306700", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374306700" }, { "id": "rs374306700", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374306700" }, { "id": "rs374306700", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374306700#frequency_tab" }, { "id": "rs374306700", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374306700" }, { "id": "rs374306700", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs374306700" } ], "glycoeffect": [], "start_pos": 368, "end_pos": 368, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "1", "chr_pos": "155236367", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R368", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:5166", "DOID:4114", "DOID:2021", "DOID:9460" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type IIIC", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type IIIC", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type IIIC", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type IIIC", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type IIIC", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs1064648", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1064648" }, { "id": "rs1064648", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1064648" }, { "id": "rs1064648", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1064648#frequency_tab" }, { "id": "rs1064648", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1064648" }, { "id": "rs1064648", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1064648" } ], "glycoeffect": [], "start_pos": 368, "end_pos": 368, "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "H", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "1", "chr_pos": "155236366", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R368", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" } ], "glycoeffect": [], "start_pos": 368, "end_pos": 368, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "1", "chr_pos": "155236367", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R368", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs777383151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777383151" }, { "id": "rs777383151", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777383151" }, { "id": "rs777383151", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777383151#frequency_tab" }, { "id": "rs777383151", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777383151" } ], "glycoeffect": [], "start_pos": 36, "end_pos": 36, "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155240637", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W36", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1553217257", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1553217257" }, { "id": "rs1553217257", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1553217257" } ], "glycoeffect": [], "start_pos": 370, "end_pos": 370, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236359", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F370", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1289324472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1289324472" }, { "id": "rs1289324472", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1289324472#frequency_tab" }, { "id": "rs1289324472", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1289324472" } ], "glycoeffect": [], "start_pos": 372, "end_pos": 372, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236354", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N372", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1671748703", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1671748703" }, { "id": "rs1671748703", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1671748703" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 373, "end_pos": 373, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236351", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T373", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [], "start_pos": 373, "end_pos": 373, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "S", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "1", "chr_pos": "155236352", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T373", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 374, "end_pos": 374, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "M", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NTM->NTT).", "chr_id": "1", "chr_pos": "155236348", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "M374", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1356485898", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1356485898" }, { "id": "rs1356485898", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1356485898" } ], "glycoeffect": [], "start_pos": 374, "end_pos": 374, "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236349", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M374", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [], "start_pos": 377, "end_pos": 377, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "P", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "1", "chr_pos": "155236340", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "A377", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs80356765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs80356765" }, { "id": "rs80356765", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs80356765" } ], "glycoeffect": [], "start_pos": 377, "end_pos": 377, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236340", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A377", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756292503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756292503" }, { "id": "rs756292503", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756292503" }, { "id": "rs756292503", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756292503" } ], "glycoeffect": [], "start_pos": 377, "end_pos": 377, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236339", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A377", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 378, "end_pos": 378, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "1", "chr_pos": "155236336", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S378", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3451", "DOID:3149" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1298355455", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1298355455" }, { "id": "rs1298355455", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1298355455" } ], "glycoeffect": [], "start_pos": 379, "end_pos": 379, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236334", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E379", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs1292692622", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1292692622" }, { "id": "rs1292692622", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1292692622" }, { "id": "rs1292692622", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1292692622" } ], "glycoeffect": [], "start_pos": 37, "end_pos": 37, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "1", "chr_pos": "155240636", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A37", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs781306264", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781306264" }, { "id": "rs781306264", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781306264" }, { "id": "rs781306264", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781306264" } ], "glycoeffect": [], "start_pos": 380, "end_pos": 380, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236331", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A380", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781306264", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781306264" }, { "id": "rs781306264", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781306264" }, { "id": "rs781306264", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781306264" } ], "glycoeffect": [], "start_pos": 380, "end_pos": 380, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236331", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A380", "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs121908306", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908306" }, { "id": "rs121908306", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121908306" }, { "id": "2269438", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/2269438" } ], "glycoeffect": [], "start_pos": 381, "end_pos": 381, "sequence_org": "C", "sequence_mut": "G", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236328", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C381", "disease": [ { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [], "start_pos": 382, "end_pos": 382, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "L", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "1", "chr_pos": "155236325", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V382", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1553217243", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1553217243" }, { "id": "rs1553217243", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1553217243" } ], "glycoeffect": [], "start_pos": 383, "end_pos": 383, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236322", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G383", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs868591897", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868591897" }, { "id": "rs868591897", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs868591897#frequency_tab" }, { "id": "rs868591897", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs868591897" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 384, "end_pos": 384, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "1", "chr_pos": "155236318", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S384", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3451", "DOID:3149" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1312985709", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1312985709" }, { "id": "rs1312985709", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1312985709#frequency_tab" }, { "id": "rs1312985709", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1312985709" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 385, "end_pos": 385, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236315", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K385", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751598832", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751598832" }, { "id": "rs751598832", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751598832" }, { "id": "rs751598832", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751598832#frequency_tab" }, { "id": "rs751598832", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751598832" } ], "glycoeffect": [], "start_pos": 386, "end_pos": 386, "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236313", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F386", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1222432898", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1222432898" }, { "id": "rs1222432898", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1222432898" }, { "id": "rs751598832", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751598832" }, { "id": "rs751598832", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751598832" }, { "id": "rs751598832", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751598832#frequency_tab" }, { "id": "rs751598832", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751598832" } ], "glycoeffect": [], "start_pos": 386, "end_pos": 386, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236311", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F386", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765182863", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765182863" }, { "id": "rs765182863", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765182863" }, { "id": "rs765182863", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765182863#frequency_tab" }, { "id": "rs765182863", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765182863" } ], "glycoeffect": [], "start_pos": 387, "end_pos": 387, "sequence_org": "W", "sequence_mut": "G", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236310", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W387", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1161552095", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1161552095" }, { "id": "rs1161552095", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1161552095" } ], "glycoeffect": [], "start_pos": 388, "end_pos": 388, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236307", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E388", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] } ] }, { "evidence": [ { "id": "rs761681845", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761681845" }, { "id": "rs761681845", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761681845" }, { "id": "rs761681845", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761681845#frequency_tab" }, { "id": "rs761681845", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761681845" } ], "glycoeffect": [], "start_pos": 389, "end_pos": 389, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236302", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q389", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2524851054", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2524851054" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 38, "end_pos": 38, "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155240632", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S38", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs398123527", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs398123527" }, { "id": "rs398123527", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs398123527" } ], "glycoeffect": [], "start_pos": 391, "end_pos": 391, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236298", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V391", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type IIIC", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type IIIC", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] } ] }, { "evidence": [ { "id": "rs398123527", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs398123527" } ], "glycoeffect": [], "start_pos": 391, "end_pos": 391, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236298", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V391", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs121908308", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908308" }, { "id": "rs121908308", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121908308#frequency_tab" }, { "id": "rs121908308", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121908308" }, { "id": "9650766", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9650766" } ], "glycoeffect": [], "start_pos": 392, "end_pos": 392, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "G", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "1", "chr_pos": "155236295", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "R392", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3451", "DOID:3149" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs11558184", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs11558184" }, { "id": "rs11558184", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs11558184" }, { "id": "rs11558184", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs11558184#frequency_tab" }, { "id": "rs11558184", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs11558184" }, { "id": "rs11558184", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs11558184" } ], "glycoeffect": [], "start_pos": 392, "end_pos": 392, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "1", "chr_pos": "155236294", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R392", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs121908308", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908308" }, { "id": "rs121908308", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121908308#frequency_tab" }, { "id": "rs121908308", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121908308" }, { "id": "rs121908308", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121908308" } ], "glycoeffect": [], "start_pos": 392, "end_pos": 392, "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236295", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R392", "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type IIIC", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type IIIC", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type IIIC", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "rs878853315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs878853315" }, { "id": "rs878853315", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs878853315" } ], "glycoeffect": [], "start_pos": 393, "end_pos": 393, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236292", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L393", "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs760307559", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760307559" }, { "id": "rs760307559", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760307559" }, { "id": "rs760307559", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760307559#frequency_tab" }, { "id": "rs760307559", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760307559" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 395, "end_pos": 395, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236285", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S395", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs760307559", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760307559" }, { "id": "rs760307559", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760307559" }, { "id": "rs760307559", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760307559#frequency_tab" }, { "id": "rs760307559", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760307559" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 395, "end_pos": 395, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "F", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "1", "chr_pos": "155236285", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S395", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:5166", "DOID:4114", "DOID:2021", "DOID:9460" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1168052721", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1168052721" }, { "id": "rs1168052721", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1168052721" } ], "glycoeffect": [], "start_pos": 396, "end_pos": 396, "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236281", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W396", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs866313115", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866313115" }, { "id": "rs866313115", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs866313115" } ], "glycoeffect": [], "start_pos": 397, "end_pos": 397, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236280", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D397", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs121908309", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908309" }, { "id": "rs121908309", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121908309#frequency_tab" }, { "id": "rs121908309", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121908309" }, { "id": "10352942", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/10352942" }, { "id": "rs121908309", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121908309" } ], "glycoeffect": [], "start_pos": 398, "end_pos": 398, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "1", "chr_pos": "155236277", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R398", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3451", "DOID:3149" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type IIIC", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type IIIC", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type IIIC", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type IIIC", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body variant of Alzheimer disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease with gaze palsy", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body variant of Alzheimer disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease with gaze palsy", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body variant of Alzheimer disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease with gaze palsy", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body variant of Alzheimer disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease with gaze palsy", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs74979486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs74979486" }, { "id": "rs74979486", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs74979486#frequency_tab" }, { "id": "rs74979486", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs74979486" } ], "glycoeffect": [], "start_pos": 398, "end_pos": 398, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236276", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R398", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs74979486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs74979486" }, { "id": "rs74979486", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs74979486#frequency_tab" }, { "id": "rs74979486", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs74979486" } ], "glycoeffect": [], "start_pos": 398, "end_pos": 398, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236276", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R398", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] } ] }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" } ], "glycoeffect": [], "start_pos": 399, "end_pos": 399, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "1", "chr_pos": "155236274", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G399", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:1659", "DOID:4203", "DOID:368", "DOID:3541", "DOID:4706" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs200378040", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200378040" }, { "id": "rs200378040", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200378040" }, { "id": "rs200378040", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200378040" }, { "id": "rs200378040", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200378040#frequency_tab" }, { "id": "rs200378040", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200378040" } ], "glycoeffect": [], "start_pos": 39, "end_pos": 39, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155240077", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "G39", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200378040", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200378040" }, { "id": "rs200378040", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200378040" }, { "id": "rs200378040", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200378040" }, { "id": "rs200378040", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200378040#frequency_tab" }, { "id": "rs200378040", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200378040" } ], "glycoeffect": [], "start_pos": 39, "end_pos": 39, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155240077", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "G39", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1672024056", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1672024056" }, { "id": "rs1672024056", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1672024056" } ], "glycoeffect": [], "start_pos": 39, "end_pos": 39, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155240630", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G39", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776015590", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776015590" }, { "id": "rs776015590", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776015590" }, { "id": "rs776015590", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776015590" } ], "glycoeffect": [], "start_pos": 3, "end_pos": 3, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155241105", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F3", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs149487315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149487315" }, { "id": "rs149487315", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149487315" }, { "id": "rs149487315", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149487315" }, { "id": "rs149487315", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149487315#frequency_tab" }, { "id": "rs149487315", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149487315" } ], "glycoeffect": [], "start_pos": 400, "end_pos": 400, "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155236269", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M400", "disease": [ { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "GD I", "description": "" }, { "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": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type IIIC", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type IIIC", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type IIIC", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type IIIC", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type IIIC", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type IIIC", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body variant of Alzheimer disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease with gaze palsy", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body variant of Alzheimer disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease with gaze palsy", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body variant of Alzheimer disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease with gaze palsy", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body variant of Alzheimer disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease with gaze palsy", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body variant of Alzheimer disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease with gaze palsy", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body variant of Alzheimer disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease with gaze palsy", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ] } }