National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
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Preferred Name

Nemaline Myopathy 2
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118784
code

C118784
DEFINITION

An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness.
FULL_SYN

NEM2
label

Nemaline Myopathy 2
Preferred_Name

Nemaline Myopathy 2
prefixIRI

C118784
prefLabel

Nemaline Myopathy 2
Semantic_Type

Disease or Syndrome
UMLS_CUI

C1850569
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101216
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C538349 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/OMIM/256030 Online Mendelian Inheritance in Man LOOM
http://purl.obolibrary.org/obo/DOID_0110928 Human Disease Ontology 123 LOOM