Search Ontology:
Human Disease

porphyria

Term ID
DOID:13268
Synonyms
  • disorder of porphyrin and hem metabolism
  • disorder of porphyrin metabolism
  • Hematoporphyria
  • Porphyrinopathy
Definition
An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. http://en.wikipedia.org/wiki/Porphyria#Subtypes
References
  • GARD:10353
  • ICD10CM:E80.20
  • ICD9CM:277.1
  • MESH:D011164
  • NCI:C97096
  • SNOMEDCT_US_2023_03_01:190912004
  • UMLS_CUI:C0032708
Ontology
Human Disease   ( DOID:13268 )
Relationships
is a type of
has subtype
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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