Preferred Name |
Muscular Dystrophy, Limb-Girdle, Type 2J |
Synonyms |
LGMD2J |
ID |
http://purl.bioontology.org/ontology/MESH/C563854 |
altLabel |
LGMD2J |
cui |
C1837342 |
HM |
D049288 |
Inverse of RB |
0 |
Mapped to | |
MDA |
20121105 |
MeSH Frequency |
2 |
notation |
C563854 |
prefLabel |
Muscular Dystrophy, Limb-Girdle, Type 2J |
SC |
3 |
Scope Statement |
mutation in titin (TTN) |
TERMUI |
T823437 T823438 |
TH |
OMIM (2013) |
tui |
T047 |