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

AttributesValues
type
subClassOf
label
  • sitosterolemia
described by
id
  • DOID:0090019
database_cross_reference
  • GARD:7653
  • MESH:C537345
  • NCI:C125694
  • OMIM:210250
  • ORDO:2882
  • SNOMEDCT_US_2021_09_01:238104009
  • UMLS_CUI:C0342907
has_exact_synonym
  • phytosterolemia (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • An intestinal disease that is characterized by autosomal recessive inheritance of unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene or in the ABCG5 gene, both of which are located on chromosome 2p21.
is topic of
is annotatedSource of
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