Pediatric Terminology

Last uploaded: January 25, 2013
Preferred Name

Epidermolysis_Bullosa
Synonyms
ID

http://www.owl-ontologies.com/Ontology1358660052.owl#Epidermolysis_Bullosa

ID

C67383

NCI_Definition

An autosomal recessive inherited skin disorder caused by mutations in the genes encoding keratins 5 and 14, collagen VII or laminin 5. It is characterized by skin fragility and the formation of blisters. The blisters may become large and ulcerated, resulting in skin infections and loss of body fluids.

NCI_PT

Epidermolysis Bullosa

NICHD_Definition

_

prefixIRI

Epidermolysis_Bullosa

prefLabel

Epidermolysis_Bullosa

Subset_Association1

NICHD Pediatric Terminology

Subset_Association2

Neonatal Research Network Terminology

SYN

subClassOf

http://www.owl-ontologies.com/Ontology1358660052.owl#Congenital_Connective_Tissue_Disorder

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http://nanbyodata.jp/ontology/NANDO_1200234 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_2100284 NANDO LOOM
http://purl.obolibrary.org/obo/DERMO_0001580 DERMO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10014989 MEDDRA LOOM
rgo:00184 GAMUTS LOOM
http://purl.bioontology.org/ontology/CSP/0726-9169 CRISP LOOM
http://purl.bioontology.org/ontology/RCTV2/PH3y200 RCTV2 LOOM
http://purl.jp/bio/4/id/200906033205979877 IOBC LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000551693 PDQ LOOM
http://purl.bioontology.org/ontology/ICD10/Q81 ICD10 LOOM
http://www.ebi.ac.uk/efo/EFO_1000690 CCONT LOOM
http://www.ebi.ac.uk/efo/EFO_1000690 EFO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C67383 NCIT LOOM
http://id.nlm.nih.gov/mesh/D004820 MDM LOOM
http://purl.bioontology.org/ontology/RCD/XE1MP RCD LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Epidermolysis_Bullosa CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.275 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C67383 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.865.410 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/61003004 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MESH/D004820 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D004820 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#4548 OCHV LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0014527 OCHV LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036741 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/DOID_2730 CLO LOOM
http://purl.obolibrary.org/obo/DOID_2730 DOID LOOM
http://purl.obolibrary.org/obo/DOID_2730 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2730 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2730 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_2730 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2730 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_2730 FNS-H LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q81 ICD10CM LOOM
http://nanbyodata.jp/ontology/NANDO_2201000 NANDO LOOM
http://purl.obolibrary.org/obo/OMIT_0006057 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.831.493 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.850.275 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2730 NATPRO LOOM
http://purl.obolibrary.org/obo/MONDO_0006541 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0006541 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0006541 KTAO LOOM
http://purl.jp/bio/4/id/200906054519434317 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.804.493 RH-MESH LOOM