loading...| Preferred Name |
nemaline myopathy |
| Synonyms |
nemaline rod myopathy |
| Definitions |
Xref MGI. A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies. |
| ID |
http://purl.obolibrary.org/obo/DOID_3191 |
| comment |
Xref MGI. |
| database_cross_reference |
GARD:12033 ORDO:607 OMIM:PS161800 MESH:D017696 SNOMEDCT_US_2022_09_01:75072002 UMLS_CUI:C0206157 ICD10CM:G71.21 |
| definition |
A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies. |
| has exact synonym |
nemaline rod myopathy rod myopathy rod body disease Nemaline body disease |
| has symptom | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:3191 |
| in_subset | |
| label |
nemaline myopathy |
| notation |
DOID:3191 |
| prefLabel |
nemaline myopathy |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bmicc.cn/ontology/ICD11CN/8C72.00 | International Classification of Diseases, 11th Edition, China | LOOM |