Cigarette Smoke Exposure Ontology

Last uploaded: July 10, 2014
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Preferred Name

Focal Dermal Hypoplasia
Synonyms
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Focal_Dermal_Hypoplasia
DEFINITION

A genetic multisystem disorder caused by mutations in the PORCN gene. It is characterized by atrophy and hypoplasia of skin, eye defects, face defects, skeletal abnormalities, and limb malformations.
isDefinedBy

A genetic multisystem disorder caused by mutations in the PORCN gene. It is characterized by atrophy and hypoplasia of skin, eye defects, face defects, skeletal abnormalities, and limb malformations.
label

Focal Dermal Hypoplasia
prefixIRI

Thesaurus:Focal_Dermal_Hypoplasia
prefLabel

Focal Dermal Hypoplasia
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder
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http://purl.obolibrary.org/obo/MONDO_0010592 EFO LOOM
http://purl.obolibrary.org/obo/DOID_2120 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0010592 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_2120 DOID LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.250.424 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/205573006 SNOMEDCT LOOM
http://www.orpha.net/ORDO/Orphanet_2092 ORDO LOOM
http://purl.bioontology.org/ontology/RCTV2/PH33400 RCTV2 LOOM
http://id.nlm.nih.gov/mesh/D005489 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.370.380 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039334 PMAPP-PMO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14668 DERMLEX LOOM
http://purl.obolibrary.org/obo/NCIT_C84715 BERO LOOM
http://purl.obolibrary.org/obo/MONDO_0010592 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.350.424 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84715 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.804.350.424 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.322.186 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D005489 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.831.350.424 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/305600 OMIM LOOM
http://purl.obolibrary.org/obo/DERMO_0000363 DERMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.850.250.424 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_2004 HRDO LOOM
http://purl.bioontology.org/ontology/MESH/D005489 MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2120 NATPRO LOOM
http://purl.jp/bio/4/id/200906064292554740 IOBC LOOM
http://purl.obolibrary.org/obo/OMIT_0006696 OMIT LOOM
http://purl.obolibrary.org/obo/OMIM_305600 CCO LOOM
http://identifiers.org/omim/305600 REXO LOOM
http://identifiers.org/omim/305600 GEXO LOOM
http://identifiers.org/omim/305600 RETO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#5143 OCHV LOOM
http://purl.obolibrary.org/obo/DOID_2120 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2120 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2120 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2120 FNS-H LOOM