porphyria

porphyria

http://purl.obolibrary.org/obo/DOID_13268

An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. [ http://purl.obolibrary.org/obo/ECO_0007638 url:http://en.wikipedia.org/wiki/Porphyria#Subtypes ]

Synonyms: Hematoporphyria disorder of porphyrin metabolism disorder of porphyrin and hem metabolism Porphyrinopathy

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This is just here as a test because I lose it

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database cross reference

ICD9CM:277.1
GARD:10353
UMLS_CUI:C0032708
MESH:D011164
ICD10CM:E80.20
SNOMEDCT_US_2023_03_01:190912004
NCI:C97096

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DO_rare_slim, NCIthesaurus

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disease_ontology

DOID:13268

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Subclass of:

inherited metabolic disorder