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inborn disorder of porphyrin metabolism

Go to external page http://purl.obolibrary.org/obo/MONDO_0017754

An inherited metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process. [ MONDO:patterns/inborn_metabolic ]

Synonyms: inborn disorder of porphyrin and haem metabolism inherited disorder of porphyrin metabolism rare inborn error of porphyrin-containing compound metabolic process inborn error of porphyrin-containing compound metabolic process inborn porphyrin-containing compound metabolic process disorder

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:403832004 (MONDO:equivalentTo)
  • ICD10CM:E80.4 (Orphanet:309813/specific)
  • GARD:21346 (MONDO:GARD)
  • Orphanet:309813 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, rare, ordo_group_of_disorders

comment

Editor note: we follow ORDO and treat this as inborn. However, some form of porphyria (e.g PCT) may be acquired.

exactMatch

http://www.orpha.net/ORDO/Orphanet_309813

http://identifiers.org/snomedct/403832004

has broad synonym

disorder of porphyrin and haem metabolism

id

MONDO:0017754