Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B6a9f1bb94f7a8c135ef977a8f5b826d6> ?p ?o ?g. }
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- B6a9f1bb94f7a8c135ef977a8f5b826d6 hasDbXref "Orphanet:319160" @default.
- B6a9f1bb94f7a8c135ef977a8f5b826d6 type Axiom @default.
- B6a9f1bb94f7a8c135ef977a8f5b826d6 annotatedProperty IAO_0000115 @default.
- B6a9f1bb94f7a8c135ef977a8f5b826d6 annotatedSource MONDO_0013890 @default.
- B6a9f1bb94f7a8c135ef977a8f5b826d6 annotatedTarget "Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients." @default.