loading...| Preferred Name |
Actin-Accumulation Myopathy |
| Synonyms |
Nemaline myopathy 3 |
| ID |
http://purl.bioontology.org/ontology/MESH/C579880 |
| altLabel |
Nemaline myopathy 3 Nemaline myopathy caused by mutation in the alpha-actin gene Myopathy, Actin, Congenital, With Cores Actin Filament Aggregate Myopathy Nemaline Myopathy 3, With Intranuclear Rods Congenital Myopathy with Excess of Thin Filaments Actin Myopathy |
| cui |
C2750537 C3711389 C2750536 |
| HM |
D020914 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20131024 |
| MeSH Frequency |
2 |
| MMR |
20171023 |
| notation |
C579880 |
| prefLabel |
Actin-Accumulation Myopathy |
| SC |
3 |
| Scope Statement |
Congenital myopathy caused by mutations in the ACTA1 gene that presents with a variety of clinical and cytological phenotypes. They generally include weakness of the proximal muscles, with involvement of the facial, bulbar, and respiratory muscles. Age of onset and severity also vary; OMIM: 161800 |
| TERMUI |
T745524 T810899 T840819 T840818 T840817 T810898 T840816 T745526 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |