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loading...| Preferred Name | congenital structural myopathy | |
| Synonyms |
centronuclear myopathy |
|
| Definitions |
A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0002921 |
|
| database_cross_reference |
MEDGEN:156050 NCIT:C84648 MESH:D020914 UMLS:C0752282 NANDO:2200867 NANDO:1200482 DOID:422 |
|
| definition |
A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills. |
|
| has_related_synonym |
centronuclear myopathy |
|
| IAO_0000233 | ||
| id |
MONDO:0002921 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare |
|
| label |
congenital structural myopathy |
|
| notation |
MONDO:0002921 |
|
| preferred label |
congenital structural myopathy |
|
| prefLabel |
congenital structural myopathy |
|
| skos_exactMatch |
http://purl.obolibrary.org/obo/NCIT_C84648 http://linkedlifedata.com/resource/umls/id/C0752282 http://purl.obolibrary.org/obo/DOID_422 |
|
| subClassOf |
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