National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
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Preferred Name

Gaucher Disease
Synonyms

Glucosylceramide Beta-Glucosidase Deficiency

Gaucher Disease
Definitions

An inherited lysosomal storage disease caused by deficiency of the enzyme glucocerebrosidase. It results in the accumulation of a fatty substance called glucocerebroside in mononuclear cells in the bone marrow, liver, spleen, brain, and kidneys. Signs and symptoms include hepatomegaly, splenomegaly, neurologic disorders, lymphadenopathy, skeletal disorders, anemia and thrombocytopenia.
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61268
code

C61268
Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147
Contributing_Source

Cellosaurus

NICHD
DEFINITION

An inherited lysosomal storage disease caused by deficiency of the enzyme glucocerebrosidase. It results in the accumulation of a fatty substance called glucocerebroside in mononuclear cells in the bone marrow, liver, spleen, brain, and kidneys. Signs and symptoms include hepatomegaly, splenomegaly, neurologic disorders, lymphadenopathy, skeletal disorders, anemia and thrombocytopenia.
FULL_SYN

Glucosylceramide Beta-Glucosidase Deficiency

Gaucher Disease
label

Gaucher Disease
Legacy Concept Name

Gaucher_Disease
Preferred_Name

Gaucher Disease
prefixIRI

Thesaurus:C61268
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0017205
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61250

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C117254
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http://purl.obolibrary.org/obo/MONDO_0018150 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018150 MONDO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID18218 DERMLEX LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038564 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/MONDO_0018150 DOVES LOOM
http://radlex.org/RID/RID34415 RADLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.435.825.400 RH-MESH LOOM
http://purl.obolibrary.org/obo/DERMO_0000525 DERMO LOOM
http://doe-generated-ontology.com/OntoAD#C0017205 ONTOAD LOOM
http://purl.bioontology.org/ontology/LNC/MTHU036947 LOINC LOOM
http://purl.bioontology.org/ontology/LNC/LA14039-4 LOINC LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0017205 MEDLINEPLUS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D005776 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.398.641.803.441 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#5396 OCHV LOOM
http://identifiers.org/omim/230800 REXO LOOM
http://identifiers.org/omim/230800 GEXO LOOM
http://identifiers.org/omim/230800 RETO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_644 HRDO LOOM
http://purl.obolibrary.org/obo/OMIT_0006974 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.435.825.400 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIM_230800 CCO LOOM
http://purl.bioontology.org/ontology/MESH/D005776 MESH LOOM
http://bmi.utah.edu/ontologies/hfontology/C0017205 HFO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.435.825.400 RH-MESH LOOM
http://www.co-ode.org/ontologies/galen#GaucherDisease GALEN LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Gaucher_Disease ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Gaucher_Disease MEPO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Gaucher_Disease EPISEM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.595.554.825.400 RH-MESH LOOM
http://purl.jp/bio/4/id/200906058846250543 IOBC LOOM
http://www.gamuts.net/entity#Gaucher_disease GAMUTS LOOM
http://purl.bioontology.org/ontology/ICD10CM/E75.22 ICD10CM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.595.554.825.400 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.398.641.803.441 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.435.825.400 RH-MESH LOOM
http://purl.bioontology.org/ontology/LNC/LP113916-3 LOINC LOOM
http://purl.obolibrary.org/obo/NCIT_C61268 BERO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Gaucher_Disease CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.584.687.803.441 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_355 ORDO LOOM