Experimental Factor Ontology - Porphyria - Classes | LIRMM AgroPortal

Experimental Factor Ontology

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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. Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both. Represents both genetic and sporadic forms
ID	http://www.orpha.net/ORDO/Orphanet_738
comment	Represents both genetic and sporadic forms
database_cross_reference	MSH:D011164 SCTID:418470004 MedDRA:10061356 ICD10:E80.0 UMLS:C0032708 ICD10:E80.2 MedDRA:10036181 ICD10:E80.1
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. Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.
definition_citation	orphanet
exactMatch	http://identifiers.org/snomedct/418470004
has_exact_synonym	porphyria
id	Orphanet:738
label	Porphyria
notation	Orphanet:738
prefLabel	Porphyria
subClassOf	http://purl.obolibrary.org/obo/MONDO_0037821 http://www.orpha.net/ORDO/Orphanet_183490 http://purl.obolibrary.org/obo/MONDO_0024255 http://www.orpha.net/ORDO/Orphanet_79387 http://www.orpha.net/ORDO/Orphanet_93593 http://www.orpha.net/ORDO/Orphanet_309813 http://purl.obolibrary.org/obo/MONDO_0019304

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	http://taxref.mnhn.fr/lod/taxon/644433/10.0	TAXREF-LD	LOOM
	http://purl.bioontology.org/ontology/NCBITAXON/1162790	National Center for Biotechnology Information (NCBI) Organismal Classification	LOOM

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