Cigarette Smoke Exposure Ontology

Last uploaded: July 10, 2014
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Preferred Name

Sjogren-Larsson Syndrome
Synonyms
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Sjogren-Larsson_Syndrome
DEFINITION

A rare autosomal recessive inherited metabolic syndrome caused by mutations in the ALDH3A2 gene. It is characterized by deficiency of fatty aldehyde dehydrogenase. It is manifested with congenital ichthyosis, mental retardation, and leg paralysis.
label

Sjogren-Larsson Syndrome
prefixIRI

Thesaurus:Sjogren-Larsson_Syndrome
prefLabel

Sjogren-Larsson Syndrome
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder
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http://purl.obolibrary.org/obo/DOID_14501 DOID LOOM
http://purl.obolibrary.org/obo/DOID_14501 CLO LOOM
http://purl.obolibrary.org/obo/DOID_14501 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0010031 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0010031 MONDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.614.492.723 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.820 RH-MESH LOOM
http://purl.obolibrary.org/obo/DERMO_0000042 DERMO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85070 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.398.641.723 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.398.641.723 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_14501 CLO LOOM
http://purl.obolibrary.org/obo/DOID_14501 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14501 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14501 FNS-H LOOM
http://purl.obolibrary.org/obo/OMIT_0016675 OMIT LOOM
http://purl.jp/bio/4/id/200906009392297590 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.584.687.723 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C85070 BERO LOOM
http://purl.bioontology.org/ontology/MESH/D016111 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.428.333.723 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/270200 OMIM LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038555 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.804.512.723 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10048676 MEDDRA LOOM
http://purl.obolibrary.org/obo/MONDO_0010031 DOVES LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14501 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.831.512.723 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D016111 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00606 SNMI LOOM
http://id.nlm.nih.gov/mesh/D016111 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.850.820 RH-MESH LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15411 DERMLEX LOOM