PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Spinal Muscular Atrophy
Synonyms
Definitions

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

ID

http://www.phoc.org.cn/pmo/class/PMO_00009690

Database_Cross_Reference

MEDLINEPLUS:1694

SNOMEDCT_US:192887006

MTH:NOCODE

ICD9CM:335.1

DXP:U003782

NDFRT:N0000002063

SNOMEDCT_US:192885003

RCD:F1510

MDR:10041583

ICD10AM:G12.9

MEDCIN:312943

RCD:F151.

SNMI:DA-23050

RCD:F151z

ICD9CM:335.10

ICD10CM:G12.9

MDR:10051207

OMIM:MTHU047788

CCPSS:0036990

MSH:D009134

MEDCIN:337496

DO:DOID:12377

NCI:C85075

NCI_NICHD:C85075

ICD10:G12.9

CHV:0000008360

HPO:HP:0007269

DXP:U001220

SNOMEDCT_US:5262007

MDR:10041582

LCH_NW:sh93009486

Definition

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

equivalentClass

http://www.phoc.org.cn/pmo/class/PMO_00038317

label

Spinal Muscular Atrophy

MCID

MC00008497

PMOID

PMO:00009690

prefixIRI

pmo:PMO_00009690

prefLabel

Spinal Muscular Atrophy

Synonym

Spinal muscle degeneration

Spinal muscular atrophy unspec

spinal amyotrophy

atrophy spinal muscular

Atrophy, Spinal Muscular

Amyotrophy, Spinal

atrophy muscular spinal

Unspecified spinal muscular atrophy

muscular atrophy inherited spinal

Muscular Atrophy, Spinal

muscle spinal atrophy

inherited spinal muscular atrophy (diagnosis)

SMA

atrophy muscular sma spinal

Spinal muscle wasting

Spinal muscular atrophy NOS

inherited spinal muscular atrophy

SPINAL MUSCLE ATROPHY

SPINE MUSCLE ATROPHY

Amyotrophies, Spinal

Spinal muscular atrophy (disorder)

Spinal muscular atrophy

Unspecified spinal muscular atrophy (disorder)

Spinal muscular atrophy, unspecified

Spinal muscular atrophy NOS (disorder)

muscular spinal atrophy

SMA - Spinal muscular atrophy

Spinal muscl atrophy NOS

atrophies muscular spinal

spinal muscular atrophy (diagnosis)

Spinal Amyotrophies

Muscular Atrophy, Spinal [Disease/Finding]

Spinal muscular atrophy, NOS

muscular atrophy spinal

Tree Number

T3.11.3.2.9

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00038384

http://www.phoc.org.cn/pmo/class/PMO_00010387

http://www.phoc.org.cn/pmo/class/PMO_00038314

http://www.phoc.org.cn/pmo/class/PMO_00009673

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Mapping To Ontology Source
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 HP 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://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