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About: familial periodic paralysis     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
  • familial periodic paralysis
described by
id
  • DOID:1029
database_cross_reference
  • GARD:6422
  • ICD10CM:G72.3
  • MESH:D010245
  • NCI:C84709
  • SNOMEDCT_US_2021_09_01:193241004
  • UMLS_CUI:C0030443
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • A metal metabolism disorder that is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells.
is subClassOf of
is topic of
is annotatedSource of
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