JSON

inborn disorder of porphyrin metabolism

^ 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 ]

Term info

database cross reference
  • UMLS:C1275125 (MONDO:equivalentTo)
  • ICD10CM:E80.4 (Orphanet:309813/specific)
  • Orphanet:309813 (MONDO:equivalentTo)
  • SCTID:403832004 (MONDO:equivalentTo)
Subsets

disease_grouping, 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.

definition

An inherited metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process.

exactMatch

http://linkedlifedata.com/resource/umls/id/C1275125, http://identifiers.org/snomedct/403832004, http://purl.obolibrary.org/obo/Orphanet_309813

has broad synonym

disorder of porphyrin and haem metabolism

has exact synonym

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

id

MONDO:0017754