loading...| Preferred Name |
Myopathies, Nemaline |
| Synonyms |
Nemaline Myopathy |
| Definitions |
A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453) |
| ID |
http://purl.bioontology.org/ontology/MESH/D017696 |
| altLabel |
Nemaline Myopathy Childhood Onset Nemaline Myopathy Myopathies, Rod Rod Myopathies Nemaline Myopathy, Autosomal Dominant Myopathies, Rod-Body Myopathy, Rod-Body Rod Myopathy Rod Body Myopathy Nemaline Myopathies Myopathy, Nemaline Rod Body Disease Late Onset Nemaline Myopathy Rod-Body Myopathy Nemaline Myopathy, Adult Onset Nemaline Body Disease Nemaline Myopathy, Late Onset Rod-Body Myopathies Myopathy, Rod Autosomal Recessive Nemaline Myopathy Nemaline Rod Disease Nemaline Myopathy, Childhood Onset Myopathy, Rod Body Autosomal Dominant Nemaline Myopathy Adult Onset Nemaline Myopathy Nemaline Myopathy, Autosomal Recessive |
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
| cui |
C0546123 C0751656 C0206157 C0546124 C0751657 C0546125 |
| DC |
1 |
| definition |
A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453) |
| DX |
19940101 |
| HN |
2000(1994) |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of SIB | |
| Machine permutation |
2000; see NEMALINE MYOPATHY 1994-1999 |
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C538349 http://purl.bioontology.org/ontology/MESH/C580202 http://purl.bioontology.org/ontology/MESH/C538351 http://purl.bioontology.org/ontology/MESH/C538398 http://purl.bioontology.org/ontology/MESH/C538348 http://purl.bioontology.org/ontology/MESH/C565198 http://purl.bioontology.org/ontology/MESH/C538397 |
| MDA |
19991108 |
| MMR |
20130708 |
| MN |
C10.668.491.550.290 C05.651.575.290 |
| notation |
D017696 |
| prefLabel |
Myopathies, Nemaline |
| TERMUI |
T842115 T369256 T372778 T052932 T052930 T369264 T842117 T842114 T369255 T373392 T842116 T373393 T369262 T369263 T369261 T365789 T369258 T372779 T369259 T369260 T369257 |
| TH |
NLM (2000) NLM (1994) GHR (2014) |
| tui |
T047 |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/ICD10CM/G71.2 | International Classification of Diseases, Version 10 - Clinical Modification | CUI |