Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Epidermolysis bullosa simplex
Synonyms

EEB

EBS
ID

http://www.limics.org/hrdo/rdfns#pat_id_641
ageOfDeath

Any age
ageOfOnset

Neonatal/infancy
altLabel

EEB

EBS
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22epidermolysis+bullosa+simplex%22%5BMeSH+Terms%5D+OR+Epidermolysis+Bullosa+Simplex%5BText+Word%5D
id_OMS

Q81.0
id_Orpha

304
inheritance

Autosomal dominant

Autosomal recessive
patType

group of phenomes
prefixIRI

hrdo:pat_id_641
prefLabel

Epidermolysis bullosa simplex
prevalence

1-9 / 100 000
subClassOf

http://www.limics.org/hrdo/rdfns#pat_id_11387
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Delete Mapping To Ontology Source
http://nanbyodata.jp/ontology/NANDO_1200235 NANDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Epidermolysis_Bullosa_Simplex CSEO LOOM
http://purl.bioontology.org/ontology/ICD10/Q81.0 ICD10 LOOM
http://purl.bioontology.org/ontology/RCTV2/PH3y700 RCTV2 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU036723 OMIM LOOM
http://purl.bioontology.org/ontology/MEDDRA/10087382 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.831.493.180 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCD/X78CT RCD LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:2115 IFAR LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.850.275.180 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/67144006 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/NCIT_C84692 BERO LOOM
http://purl.obolibrary.org/obo/OMIT_0016674 OMIT LOOM
http://purl.obolibrary.org/obo/DOID_4644 DOID LOOM
http://purl.obolibrary.org/obo/DOID_4644 BAO LOOM
http://purl.obolibrary.org/obo/DOID_4644 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_4644 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_4644 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_4644 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_4644 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.804.493.180 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.275.180 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_2201341 NANDO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_4644 NATPRO LOOM
http://purl.bioontology.org/ontology/MESH/D016110 MESH LOOM
http://purl.bioontology.org/ontology/SNMI/D6-90940 SNMI LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036743 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D016110 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_304 ORDO LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q81.0 ICD10CM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84692 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.865.410.180 RH-MESH LOOM
http://purl.jp/bio/4/id/200906069139256510 IOBC LOOM
http://purl.obolibrary.org/obo/DERMO_0001582 DERMO LOOM
http://purl.obolibrary.org/obo/MONDO_0017610 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0017610 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0017610 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0017610 DOVES LOOM