Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
Jump to:
loading...
Preferred Name

Acute intermittent porphyria
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_11302
ageOfOnset

Adolescence / Young adulthood
id_Medline

neant
id_MeSH

D017118
id_MIM

176000
id_OMS

E80.2
id_Orpha

79276
id_SNOMEDCT

234422006
id_UMLS

C0162565
inheritance

Autosomal dominant
patType

disease
prefixIRI

hrdo:pat_id_11302
prefLabel

Acute intermittent porphyria
prevalence

1-9 / 1 000 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_3890 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0008294 MONDO LOOM
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://www.orpha.net/ORDO/Orphanet_79276 ORDO 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://purl.obolibrary.org/obo/MONDO_0008294 CCONT 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