Preferred Name |
Hereditary Myopathy with Early Respiratory Failure |
Synonyms |
Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant |
ID |
http://purl.bioontology.org/ontology/MESH/C566343 |
altLabel |
Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant Myopathy, Proximal, with Early Respiratory Muscle Involvement Edstrom Myopathy HMERF |
cui |
C1863599 |
HM |
D012131 D030342 D009135 |
Inverse of RB |
0 |
Mapped to |
http://purl.bioontology.org/ontology/MESH/D030342 |
MDA |
20121105 |
MeSH Frequency |
22 |
MMR |
20191030 |
notation |
C566343 |
prefLabel |
Hereditary Myopathy with Early Respiratory Failure |
SC |
3 |
TERMUI |
T808314 T845260 T826602 T826601 T804770 |
TH |
OMIM (2013) GHR (2014) |
tui |
T047 |