National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
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Preferred Name

Spinal Muscular Atrophy
Synonyms

Spinal Muscular Atrophy

Spinal muscular atrophy, unspecified
Definitions

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.
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#C193194

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157711

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

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C193006

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177537

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

Cellosaurus

GDC

NICHD

mCode
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.
FULL_SYN

Spinal Muscular Atrophy

Spinal muscular atrophy, unspecified
Is_Value_For_GDC_Property

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C81239
label

Spinal Muscular Atrophy
Maps_To

Spinal Muscular Atrophy
Preferred_Name

Spinal Muscular Atrophy
prefixIRI

Thesaurus:C85075
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0026847
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C197818

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.obolibrary.org/obo/HP_0007269 HP LOOM
http://www.ebi.ac.uk/efo/EFO_0008525 EFO LOOM
http://purl.obolibrary.org/obo/HP_0007269 OBA LOOM
http://purl.obolibrary.org/obo/DOID_12377 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0001516 MONDO LOOM
http://purl.obolibrary.org/obo/HP_0007269 UPHENO LOOM
http://purl.obolibrary.org/obo/HP_0007269 MAXO LOOM
http://www.semanticweb.org/cjf/ontologies/2022/8/NeuralReprogrammingOntology(NRO)#Spinal_muscular_atrophy NRO LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12568 NIFDYS LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12568 NIFSTD LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0026847 OCHV LOOM
http://purl.obolibrary.org/obo/DOID_12377 CLO LOOM
http://purl.obolibrary.org/obo/DOID_12377 DTO LOOM
http://purl.obolibrary.org/obo/DOID_12377 BAO LOOM
http://purl.obolibrary.org/obo/DOID_12377 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_12377 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_12377 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_12377 FNS-H LOOM
http://www.semanticweb.org/cjf/ontologies/2022/8/NeuralReprogrammingOntology(NRO)#spinal_muscular_atrophy NRO LOOM
http://purl.obolibrary.org/obo/MONDO_0001516 DOVES LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/5262007 SNOMEDCT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00009690 PMAPP-PMO LOOM
http://localhost/plosthes.2017-1#1286 PLOSTHES LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Spinal_Muscular_Atrophy CSEO LOOM
http://www.semanticweb.org/ontologies/2012/0/Ontology1325521724189.owl#Spinal_muscular_atrophy CTO-NDD LOOM
http://purl.bioontology.org/ontology/ICD9CM/335.1 ICD9CM LOOM
http://purl.bioontology.org/ontology/LNC/LA22279-6 LOINC LOOM
http://purl.bioontology.org/ontology/LNC/MTHU062169 LOINC LOOM
http://purl.obolibrary.org/obo/NCIT_C85075 BERO LOOM
http://purl.bioontology.org/ontology/LNC/LP288641-6 LOINC LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Spinal_Muscular_Atrophy PEDTERM LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_12377 NATPRO LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_12568 BIRNLEX LOOM
http://purl.bioontology.org/ontology/RCD/F151. RCD LOOM
http://purl.bioontology.org/ontology/RCTV2/F151.00 RCTV2 LOOM
http://purl.obolibrary.org/obo/ND_0000122 NDDO LOOM
http://purl.obolibrary.org/obo/ND_0000122 NIO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10041582 MEDDRA LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU047788 OMIM LOOM
http://www.gamuts.net/entity#spinal_muscular_atrophy GAMUTS LOOM