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About: chylomicron retention disease     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • chylomicron retention disease
described by
id
  • DOID:0060357
created_by
  • elvira
creation_date
  • 2015-08-20T12:44:44Z
database_cross_reference
  • GARD:9683
  • ICD10CM:E78.3
  • MESH:C535460
  • OMIM:246700
  • ORDO:71
  • SNOMEDCT_US_2021_09_01:702364003
  • UMLS_CUI:C0795956
has_exact_synonym
  • Anderson disease (en)
  • CMRD (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1.
is topic of
is annotatedSource of
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