Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023
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Preferred Name

inborn disorder of porphyrin metabolism
Synonyms

inborn porphyrin-containing compound metabolic process disorder

rare inborn error of porphyrin-containing compound metabolic process

inborn disorder of porphyrin and haem metabolism

inherited disorder of porphyrin metabolism

inborn error of porphyrin-containing compound metabolic process

disorder of porphyrin and haem metabolism
Definitions

Editor note: we follow ORDO and treat this as inborn. However, some form of porphyria (e.g PCT) may be acquired. An inherited metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process.
ID

http://purl.obolibrary.org/obo/MONDO_0017754
comment

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

disorder of porphyrin and haem metabolism
has_exact_synonym

inborn porphyrin-containing compound metabolic process disorder

rare inborn error of porphyrin-containing compound metabolic process

inborn disorder of porphyrin and haem metabolism

inherited disorder of porphyrin metabolism

inborn error of porphyrin-containing compound metabolic process
label

inborn disorder of porphyrin metabolism
prefixIRI

MONDO:0017754
prefLabel

inborn disorder of porphyrin metabolism
textual definition

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

http://purl.obolibrary.org/obo/MONDO_0037821

http://purl.obolibrary.org/obo/MONDO_0019052
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