Cigarette Smoke Exposure Ontology

Last uploaded: July 10, 2014
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Preferred Name

LEOPARD Syndrome
Synonyms
ID

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

A genetic syndrome caused by mutations in the PTPN11 and RAF1 genes. It is characterized by the following abnormalities: multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities in genitalia, growth retardation, and deafness.
label

LEOPARD Syndrome
prefixIRI

Thesaurus:LEOPARD_Syndrome
prefLabel

LEOPARD Syndrome
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder
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http://www.phoc.org.cn/pmo/class/PMO_00039948 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.240.400.685 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.207.525 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.621.207.525 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D044542 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0175704 OCHV LOOM
rgo:09529 GAMUTS LOOM
http://purl.jp/bio/4/id/200906037830471992 IOBC LOOM
http://purl.obolibrary.org/obo/DOID_14291 CLO LOOM
http://purl.obolibrary.org/obo/DOID_14291 DTO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_1032 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.525 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.280.400.695 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10057210 MEDDRA LOOM
http://purl.obolibrary.org/obo/NCIT_C84820 BERO LOOM
http://purl.obolibrary.org/obo/DERMO_0000678 DERMO LOOM
http://purl.obolibrary.org/obo/OMIT_0023454 OMIT LOOM
http://purl.bioontology.org/ontology/RCTV2/M292200 RCTV2 LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#18181 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.240.400.695 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.621.430.530.550.525 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84820 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.280.484.716.525 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14291 NATPRO LOOM
http://purl.bioontology.org/ontology/MESH/D044542 MESH LOOM