National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
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Preferred Name

Spinal Muscular Atrophy
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85075
code

C85075
Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147
Contributing_Source

NICHD
DEFINITION

An inherited disorder characterized by degeneration of the spinal cord and the cerebellum. Symptoms may appear at any age and include progressive loss of coordination of gait, hands, speech, and eye movements.
Has_NICHD_Parent

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97172
label

Spinal Muscular Atrophy
NICHD_Hierarchy_Term

Spinal Muscular Atrophy
Preferred_Name

Spinal Muscular Atrophy
prefixIRI

C85075
prefLabel

Spinal Muscular Atrophy
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0026847
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101216

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543
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Delete Mapping To Ontology Source
http://purl.bmicc.cn/ontology/ICD11CN/8B61 International Classification of Diseases, 11th Edition, China LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU047788 Online Mendelian Inheritance in Man LOOM
http://purl.obolibrary.org/obo/DOID_12377 Human Disease Ontology 123 LOOM