National Drug File - Reference Terminology - Gaucher Disease [Disease/Finding] - Classes | NCBO BioPortal

National Drug File - Reference Terminology

Last uploaded: July 6, 2018

Id	http://purl.bioontology.org/ontology/NDFRT/N0000001322 http://purl.bioontology.org/ontology/NDFRT/N0000001322
Preferred Name	Gaucher Disease [Disease/Finding]
Synonyms	Glucosylceramide Beta-Glucosidase Deficiency Gaucher Syndrome Gaucher's Disease Glucocerebrosidosis Kerasin Lipoidosis Kerasin thesaurismosis Glucocerebrosidase Deficiency Glucosyl Cerebroside Lipidosis Lipoid Histiocytosis (Kerasin Type) Glucosylceramide Lipidosis Glucosylceramide Beta-Glucosidase Deficiency Disease Gaucher Splenomegaly Gaucher Disease Cerebroside Lipidosis Syndrome Gauchers Disease Glucosylceramidase Deficiency Acid beta-Glucosidase Deficiency Glucocerebrosidase Deficiency Disease Acid beta-Glucosidase Deficiency Disease Kerasin Histiocytosis See more See less
Type	http://www.w3.org/2002/07/owl#Class

altLabel	Glucosylceramide Beta-Glucosidase Deficiency Gaucher Syndrome Gaucher's Disease Glucocerebrosidosis Kerasin Lipoidosis Kerasin thesaurismosis Glucocerebrosidase Deficiency Glucosyl Cerebroside Lipidosis Lipoid Histiocytosis (Kerasin Type) Glucosylceramide Lipidosis Glucosylceramide Beta-Glucosidase Deficiency Disease Gaucher Splenomegaly Gaucher Disease Cerebroside Lipidosis Syndrome Gauchers Disease Glucosylceramidase Deficiency Acid beta-Glucosidase Deficiency Glucocerebrosidase Deficiency Disease Acid beta-Glucosidase Deficiency Disease Kerasin Histiocytosis See more See less
prefLabel	Gaucher Disease [Disease/Finding]
notation	N0000001322
May be treated by	http://purl.bioontology.org/ontology/NDFRT/N0000156262 http://purl.bioontology.org/ontology/NDFRT/N0000185379 http://purl.bioontology.org/ontology/NDFRT/N0000172058 http://purl.bioontology.org/ontology/NDFRT/N0000164426 http://purl.bioontology.org/ontology/NDFRT/N0000148376 http://purl.bioontology.org/ontology/NDFRT/N0000157290 http://purl.bioontology.org/ontology/NDFRT/N0000147683 http://purl.bioontology.org/ontology/NDFRT/N0000191083 http://purl.bioontology.org/ontology/NDFRT/N0000180930 http://purl.bioontology.org/ontology/NDFRT/N0000147483 http://purl.bioontology.org/ontology/NDFRT/N0000191178 http://purl.bioontology.org/ontology/NDFRT/N0000180860 http://purl.bioontology.org/ontology/NDFRT/N0000185492 http://purl.bioontology.org/ontology/NDFRT/N0000148822 See more See less
MESH DEFINITION	An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
MESH UI	M0009048
subClassOf	http://purl.bioontology.org/ontology/NDFRT/N0000002791
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
MeSH name	Gaucher Disease
NDFRT kind	DISEASE_KIND
type	http://www.w3.org/2002/07/owl#Class
SNOMED CID	190794006 180485001
tui	T047
NUI	N0000001322
cui	C0017205
MESH DUI	D005776

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