Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Acute intermittent porphyria
Synonyms
Definitions

A form of acute hepatic porphyria characterized by the occurrence of neurovisceral attacks without cutaneous symptoms.

ID

http://www.orpha.net/ORDO/Orphanet_79276

definition

A form of acute hepatic porphyria characterized by the occurrence of neurovisceral attacks without cutaneous symptoms.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79276

has_age_of_onset

Adolescent

Adult

has_inheritance

Autosomal dominant

hasDbXref

MeSH:D017118

UMLS:C0162565

ICD-11:5C58.1Y

ICD-10:E80.2

OMIM:176000

label

Acute intermittent porphyria

notation

ORPHA:79276

part_of

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

prefixIRI

ORDO:Orphanet_79276

prefLabel

Acute intermittent porphyria

present_in

Finland AND has_annual_incidence_average_value : 0.013 AND has_annual_incidence_range : <1 / 1 000 000

United Kingdom AND has_point_prevalence_average_value : 0.72 AND has_point_prevalence_range : 1-9 / 1 000 000

Europe AND has_point_prevalence_average_value : 0.54 AND has_point_prevalence_range : 1-9 / 1 000 000

Switzerland AND has_annual_incidence_average_value : 0.022 AND has_annual_incidence_range : <1 / 1 000 000

Italy AND has_annual_incidence_average_value : 0.011 AND has_annual_incidence_range : <1 / 1 000 000

Finland AND has_point_prevalence_average_value : 0.59 AND has_point_prevalence_range : 1-9 / 1 000 000

France AND has_annual_incidence_average_value : 0.012 AND has_annual_incidence_range : <1 / 1 000 000

United Kingdom AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : <1 / 1 000 000

Sweden AND has_annual_incidence_average_value : 0.051 AND has_annual_incidence_range : <1 / 1 000 000

Europe AND has_annual_incidence_average_value : 0.013 AND has_annual_incidence_range : <1 / 1 000 000

Spain AND has_point_prevalence_average_value : 0.63 AND has_point_prevalence_range : 1-9 / 1 000 000

Norway AND has_point_prevalence_average_value : 0.63 AND has_point_prevalence_range : 1-9 / 1 000 000

Italy AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000

Spain AND has_annual_incidence_average_value : 0.014 AND has_annual_incidence_range : <1 / 1 000 000

Poland AND has_point_prevalence_average_value : 0.72 AND has_point_prevalence_range : 1-9 / 1 000 000

Norway AND has_annual_incidence_average_value : 0.014 AND has_annual_incidence_range : <1 / 1 000 000

Netherlands AND has_point_prevalence_average_value : 0.81 AND has_point_prevalence_range : 1-9 / 1 000 000

Sweden AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000

Poland AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : <1 / 1 000 000

Netherlands AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000

France AND has_point_prevalence_average_value : 0.55 AND has_point_prevalence_range : 1-9 / 1 000 000

Switzerland AND has_point_prevalence_average_value : 0.99 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

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_79276 CCONT SAME_URI
http://www.orpha.net/ORDO/Orphanet_79276 EFO SAME_URI
http://www.orpha.net/ORDO/Orphanet_79276 EFO SAME_URI
rgo:05628 GAMUTS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84536 NCIT LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14451 DERMLEX LOOM
http://nanbyodata.jp/ontology/NANDO_1200812 NANDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10000818 MEDDRA LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3890 NATPRO LOOM
http://purl.bioontology.org/ontology/RCD/C3712 RCD LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/234422006 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/DOID_3890 CLO LOOM
http://purl.obolibrary.org/obo/DOID_3890 DOID LOOM
http://purl.obolibrary.org/obo/DOID_3890 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3890 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3890 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_3890 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3890 FNS-H LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0162565 OCHV LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Acute_Intermittent_Porphyria CSEO LOOM
http://purl.obolibrary.org/obo/DERMO_0002708 DERMO LOOM
http://www.co-ode.org/ontologies/galen#AcuteIntermittentPorphyria GALEN LOOM
http://purl.bioontology.org/ontology/RCTV2/C371200 RCTV2 LOOM
http://purl.bioontology.org/ontology/SNMI/D6-88310 SNMI LOOM
http://purl.obolibrary.org/obo/NCIT_C84536 BERO LOOM
http://nanbyodata.jp/ontology/NANDO_2201263 NANDO LOOM
http://purl.obolibrary.org/obo/OMIM_176000 CCO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_11302 HRDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008294 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0008294 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008294 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008294 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008294 DOVES LOOM
http://identifiers.org/omim/176000 REXO LOOM
http://identifiers.org/omim/176000 GEXO LOOM
http://identifiers.org/omim/176000 RETO LOOM
http://www.gamuts.net/entity#acute_intermittent_porphyria GAMUTS REST