Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	spinal muscular atrophy
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	GARD:7674 NCI:C85075 SNOMEDCT_US_2022_09_01:5262007 ICD10CM:G12.9 ICD9CM:335.1 MESH:D009134 UMLS_CUI:C0026847
definition	A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.
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#DO_rare_slim http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim http://purl.obolibrary.org/obo/doid#NCIthesaurus
label	spinal muscular atrophy
notation	DOID:12377
prefLabel	spinal muscular atrophy
subClassOf	http://purl.obolibrary.org/obo/DOID_231

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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://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85075	National Cancer Institute Thesaurus	LOOM