Medical Subject Headings

Last uploaded: November 5, 2019

Preferred Name	Spinal Muscular Atrophy, Distal, Congenital Nonprogressive
Synonyms	Spinal Muscular Atrophy, Congenital Benign, with Contractures
ID	http://purl.bioontology.org/ontology/MESH/C563981
altLabel	Spinal Muscular Atrophy, Congenital Benign, with Contractures
cui	C1838492
Has mapping qualifier	http://purl.bioontology.org/ontology/MESH/Q000151
HM	D009134/Q000151
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D009134
MDA	20121105
MeSH Frequency	0
MMR	20131106
notation	C563981
prefLabel	Spinal Muscular Atrophy, Distal, Congenital Nonprogressive
SC	3
Scope Statement	mutation in TRPV4
TERMUI	T803999 T828975
TH	OMIM (2013)
tui	T047

Delete	Subject	Author	Type	Created
No notes to display

Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/600175	Online Mendelian Inheritance in Man	CUI
	http://purl.bioontology.org/ontology/OMIM/605427	Online Mendelian Inheritance in Man	CUI