Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Hereditary coproporphyria

Synonyms
Definitions

Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.

ID

http://www.orpha.net/ORDO/Orphanet_79273

definition

Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79273

has_age_of_onset

Adolescent

Adult

has_inheritance

Autosomal dominant

hasDbXref

OMIM:121300

MedDRA:10019866

ICD-11:5C58.1Y

MeSH:D046349

ICD-10:E80.2

UMLS:C0162531

label

Hereditary coproporphyria

notation

ORPHA:79273

part_of

http://www.orpha.net/ORDO/Orphanet_95157

prefixIRI

ORDO:Orphanet_79273

prefLabel

Hereditary coproporphyria

present_in

Europe AND has_point_prevalence_range : 1-9 / 1 000 000

treeView

http://www.orpha.net/ORDO/Orphanet_95157

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_79273 EFO SAME_URI
http://www.orpha.net/ORDO/Orphanet_79273 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0007369 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007369 EFO LOOM
http://purl.obolibrary.org/obo/DOID_13269 CLO LOOM
http://purl.obolibrary.org/obo/DOID_13269 DOID LOOM
http://purl.obolibrary.org/obo/DOID_13269 BAO LOOM
http://purl.obolibrary.org/obo/DOID_13269 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_13269 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_13269 FNS-H LOOM
http://purl.obolibrary.org/obo/DERMO_0000564 DERMO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14457 DERMLEX LOOM
http://nanbyodata.jp/ontology/NANDO_1200813 NANDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10019866 MEDDRA LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/7425008 SNOMEDCT LOOM
http://identifiers.org/omim/121300 REXO LOOM
http://identifiers.org/omim/121300 GEXO LOOM
http://identifiers.org/omim/121300 RETO LOOM
http://purl.obolibrary.org/obo/OMIM_121300 CCO LOOM
http://purl.obolibrary.org/obo/MONDO_0007369 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007369 DOVES LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hereditary_Coproporphyria CSEO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_11299 HRDO LOOM
http://purl.bioontology.org/ontology/RCD/Xa01L RCD LOOM
http://nanbyodata.jp/ontology/NANDO_2201264 NANDO LOOM
http://purl.bioontology.org/ontology/SNMI/D6-88320 SNMI LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_13269 NATPRO LOOM
http://purl.obolibrary.org/obo/NCIT_C84759 BERO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84759 NCIT LOOM