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Preferred Name

Noonan Syndrome 7
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C176935
code

C176935
DEFINITION

Noonan syndrome caused by autosomal dominant mutation(s) in the BRAF gene, encoding serine/threonine-protein kinase B-raf.
FULL_SYN

NS7

Noonan Syndrome 7
label

Noonan Syndrome 7
Preferred_Name

Noonan Syndrome 7
prefixIRI

Thesaurus:C176935
prefLabel

Noonan Syndrome 7
Related_To_Genetic_Biomarker

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18363
Semantic_Type

Disease or Syndrome
UMLS_CUI

C3150970
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34854
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0013379 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/DOID_0060585 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/613706 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM