Digital medicine Outcomes Value Set (DOVeS) Ontology - inherited porphyria - Classes | NCBO BioPortal

Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

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Preferred Name	inherited porphyria
Synonyms	Porphyrinopathy Hematoporphyria disorder of porphyrin metabolism porphyria disorder of porphyrin and heme metabolism disorder of porphyrin and hem metabolism hereditary porphyria
Definitions	Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both. Editor notes: see notes for porphyria cutanea tarda for a discussion of inherited vs sporadic
ID	http://purl.obolibrary.org/obo/MONDO_0019142
comment	Editor notes: see notes for porphyria cutanea tarda for a discussion of inherited vs sporadic
altLabel	Porphyrinopathy Hematoporphyria disorder of porphyrin metabolism porphyria disorder of porphyrin and heme metabolism disorder of porphyrin and hem metabolism hereditary porphyria
definition	Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both. Editor notes: see notes for porphyria cutanea tarda for a discussion of inherited vs sporadic
has_broad_synonym	disorder of porphyrin metabolism porphyria disorder of porphyrin and heme metabolism
has_exact_synonym	disorder of porphyrin and hem metabolism hereditary porphyria
has_related_synonym	Porphyrinopathy Hematoporphyria
label	inherited porphyria
prefixIRI	MONDO:0019142
prefLabel	inherited porphyria
seeAlso	https://rarediseases.info.nih.gov/diseases/10353/porphyria
textual definition	Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0015951 http://purl.obolibrary.org/obo/MONDO_0017754 http://purl.obolibrary.org/obo/MONDO_0037939

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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/MONDO_0019142	MONDO	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0019142	CCONT	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0019142	EFO	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0019142	MONDO	LOOM
	http://purl.obolibrary.org/obo/MONDO_0019142	CCONT	LOOM
	http://purl.obolibrary.org/obo/MONDO_0019142	EFO	LOOM