Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Be38d2a17b4467fcc108fc16a97b67f7f> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- Be38d2a17b4467fcc108fc16a97b67f7f hasDbXref "NCIT:C122787" @default.
- Be38d2a17b4467fcc108fc16a97b67f7f type Axiom @default.
- Be38d2a17b4467fcc108fc16a97b67f7f annotatedProperty IAO_0000115 @default.
- Be38d2a17b4467fcc108fc16a97b67f7f annotatedSource MONDO_0016110 @default.
- Be38d2a17b4467fcc108fc16a97b67f7f annotatedTarget "OBSOLETE. A group of rare skeletal muscle ion-channel disorders caused by genetic mutations in the sodium and chloride channel genes. It is characterized by altered membrane excitability resulting in skeletal muscle stiffness. This group of myotonias is distinct from myotonic dystrophy because of the absence of systemic features or progressive weakness." @default.