Human Phenotype Ontology

Last uploaded: August 13, 2024
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Preferred Name

Spinal muscular atrophy
Synonyms

Spinal muscle degeneration

Spinal muscle wasting
Definitions

Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.
ID

http://purl.obolibrary.org/obo/HP_0007269
database_cross_reference

UMLS:C0026847

SNOMEDCT_US:5262007
definition

Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.
has_exact_synonym

Spinal muscle degeneration

Spinal muscle wasting
has_obo_namespace

human_phenotype
id

HP:0007269
label

Spinal muscular atrophy
notation

HP:0007269
prefLabel

Spinal muscular atrophy
treeView

http://purl.obolibrary.org/obo/HP_0003202
subClassOf

http://purl.obolibrary.org/obo/HP_0003202
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Mapping To Ontology Source
http://purl.obolibrary.org/obo/HP_0007269 OBA SAME_URI
http://purl.obolibrary.org/obo/HP_0007269 UPHENO SAME_URI
http://purl.obolibrary.org/obo/HP_0007269 HOOM SAME_URI
http://purl.obolibrary.org/obo/DOID_12377 DOID LOOM
http://purl.obolibrary.org/obo/HP_0007269 OBA LOOM
http://purl.obolibrary.org/obo/MONDO_0001516 MONDO LOOM
http://purl.obolibrary.org/obo/HP_0007269 UPHENO 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://nanbyodata.jp/ontology/NANDO_2200853 NANDO LOOM
rgo:29953 GAMUTS LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12568 NIFDYS LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12568 NIFSTD LOOM
http://nanbyodata.jp/ontology/NANDO_2100231 NANDO 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 DOID 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 DDSS 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.ebi.ac.uk/efo/EFO_0008525 CCONT LOOM
http://www.ebi.ac.uk/efo/EFO_0008525 EFO 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://nanbyodata.jp/ontology/NANDO_1200003 NANDO LOOM
http://www.gamuts.net/entity#spinal_muscular_atrophy GAMUTS REST