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Metadata
ID DOID:13268
Name porphyria
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
Xrefs

GARD:10353

ICD10CM:E80.20

ICD9CM:277.1

ICD9CM_2006:277.1

MESH:D011164

MTHICD9_2006:277.1

NCI:C97096

SNOMEDCT_US_2018_03_01:29094004

SNOMEDCT_US_2018_03_01:86292002

UMLS_CUI:C0032708

Subsets

NCIthesaurus

Synonyms

disorder of porphyrin and hem metabolism [EXACT]

disorder of porphyrin metabolism [EXACT]

Hematoporphyria [EXACT]

Porphyrinopathy [EXACT]

Parent Relationships

is_a inherited metabolic disorder

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