Medical Subject Headings

Last uploaded: November 5, 2019
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Preferred Name

Spinal Muscular Atrophy, Type IV
Synonyms

Spinal Muscular Atrophy, Adult Form
ID

http://purl.bioontology.org/ontology/MESH/C563948
altLabel

Spinal Muscular Atrophy, Adult Form

Spinal Muscular Atrophy, Proximal, Adult, Autosomal Recessive
cui

C1838230
HM

D009134
Inverse of RB

0
Mapped to

http://purl.bioontology.org/ontology/MESH/D009134
MDA

20121105
MeSH Frequency

2
notation

C563948
prefLabel

Spinal Muscular Atrophy, Type IV
SC

3
Scope Statement

mutation in SMN1
TERMUI

T828881

T803939

T803941
TH

OMIM (2013)
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/600354 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/ICD10CM/G12.1 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/OMIM/271150 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/271150 Online Mendelian Inheritance in Man LOOM