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Preferred Name

spinal muscular atrophy
Synonyms
Definitions

A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.
ID

http://purl.obolibrary.org/obo/DOID_12377
database_cross_reference

ICD9CM:335.1

MESH:D009134

UMLS_CUI:C0026847

ICD10CM:G12.9

SNOMEDCT_US_2023_03_01:5262007

GARD:7674

NCI:C85075
definition

A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.
equivalentClass

http://uri.neuinfo.org/nif/nifstd/birnlex_12568
has symptom

http://purl.obolibrary.org/obo/SYMP_0000094

http://purl.obolibrary.org/obo/SYMP_0000363
has_obo_namespace

disease_ontology
id

DOID:12377
in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim
label

spinal muscular atrophy
notation

DOID:12377
prefLabel

spinal muscular atrophy
subClassOf

http://uri.neuinfo.org/nif/nifstd/birnlex_12565

http://purl.obolibrary.org/obo/DOID_231
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http://purl.obolibrary.org/obo/DOID_12377 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_12377 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_12377 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_12377 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_12377 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_12377 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_12377 FNS-H SAME_URI
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/HP_0007269 HP 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://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85075 NCIT LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12568 NIFDYS 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 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