About: Lysosomal Storage Disease     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Lysosomal Storage Disease
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Lysosomal Storage Disease
UMLS_CUI
  • C0085078
Contributing_Source
  • NICHD
Legacy_Concept_Name
  • Lysosomal_Storage_Disease
FULL_SYN
  • Lysosomal Storage DiseasePTNCI
  • Lysosomal Storage DisorderPTNICHD
  • Disorder of Lysosomal EnzymesSYNICHD
DEFINITION
  • A group of autosomal recessive or X-linked inherited metabolic disorders caused by defects in the function of the lysosomes. Signs and symptoms include hepatomegaly, splenomegaly, nervous system manifestations, skeletal abnormalities, and mental deterioration. Representative examples include Gaucher disease, Niemann-Pick disease, Wolman disease, and Fabry disease.NCI
code
  • C61250
http://linked.open...y/mesh/hasConcept
is rdfs:subClassOf of
is Has_NICHD_Parent of
is sameAs of
Faceted Search & Find service v1.16.121 as of Mar 31 2025


Alternative Linked Data Documents: ODE     Content Formats:   [cxml] [csv]     RDF   [text] [turtle] [ld+json] [rdf+json] [rdf+xml]     ODATA   [atom+xml] [odata+json]     Microdata   [microdata+json] [html]    About   
This material is Open Knowledge   W3C Semantic Web Technology [RDF Data]
OpenLink Virtuoso version 07.20.3240 as of Mar 31 2025, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 46 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software