Preferred Name

porphyria
Synonyms

porphyria

Definitions

Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS. Represents both genetic and sporadic forms

ID

http://purl.obolibrary.org/obo/MONDO_0037939

comment

Represents both genetic and sporadic forms

altLabel

porphyria

definition

Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS.

Represents both genetic and sporadic forms

has_exact_synonym

porphyria

label

porphyria

prefixIRI

MONDO:0037939

prefLabel

porphyria

textual definition

Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS.

subClassOf

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

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Delete Mapping To Ontology Source
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