Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C122790> ?p ?o ?g. }
Showing items 1 to 46 of
46
with 100 items per page.
- NCIT_C122790 IAO_0000115 "An autosomal dominant inherited non-dystrophic myotonia caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. It is characterized by muscle stiffness, which is increased by exposure to cold or activity, and usually eases when the patient warms up through physical activity." @default.
- NCIT_C122790 NCIT_NHC0 "C122790" @default.
- NCIT_C122790 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C122790 NCIT_P108 "Paramyotonia Congenita" @default.
- NCIT_C122790 NCIT_P207 "C0221055" @default.
- NCIT_C122790 NCIT_R100 NCIT_C12219 @default.
- NCIT_C122790 NCIT_R100 NCIT_C12754 @default.
- NCIT_C122790 NCIT_R100 NCIT_C12801 @default.
- NCIT_C122790 NCIT_R100 NCIT_C12919 @default.
- NCIT_C122790 NCIT_R100 NCIT_C12964 @default.
- NCIT_C122790 NCIT_R103 NCIT_C12219 @default.
- NCIT_C122790 NCIT_R103 NCIT_C12471 @default.
- NCIT_C122790 NCIT_R103 NCIT_C12801 @default.
- NCIT_C122790 NCIT_R103 NCIT_C12964 @default.
- NCIT_C122790 NCIT_R135 NCIT_C12219 @default.
- NCIT_C122790 NCIT_R135 NCIT_C12366 @default.
- NCIT_C122790 NCIT_R135 NCIT_C25769 @default.
- NCIT_C122790 NCIT_R135 NCIT_C32221 @default.
- NCIT_C122790 NCIT_R135 NCIT_C34076 @default.
- NCIT_C122790 normalizedInformationContent "95.413332725061409" @default.
- NCIT_C122790 referenceCount "2" @default.
- NCIT_C122790 hasExactSynonym "PMC" @default.
- NCIT_C122790 hasExactSynonym "Paramyotonia Congenita of von Eulenburg" @default.
- NCIT_C122790 hasExactSynonym "Paramyotonia Congenita" @default.
- NCIT_C122790 type Class @default.
- NCIT_C122790 isDefinedBy ncit.owl @default.
- NCIT_C122790 label "Paramyotonia Congenita" @default.
- NCIT_C122790 subClassOf NCIT_C101216 @default.
- NCIT_C122790 subClassOf NCIT_C107377 @default.
- NCIT_C122790 subClassOf NCIT_C118317 @default.
- NCIT_C122790 subClassOf NCIT_C122787 @default.
- NCIT_C122790 subClassOf NCIT_C122790 @default.
- NCIT_C122790 subClassOf NCIT_C166355 @default.
- NCIT_C122790 subClassOf NCIT_C26326 @default.
- NCIT_C122790 subClassOf NCIT_C27042 @default.
- NCIT_C122790 subClassOf NCIT_C27551 @default.
- NCIT_C122790 subClassOf NCIT_C27573 @default.
- NCIT_C122790 subClassOf NCIT_C27574 @default.
- NCIT_C122790 subClassOf NCIT_C2991 @default.
- NCIT_C122790 subClassOf NCIT_C4873 @default.
- NCIT_C122790 subClassOf NCIT_C53529 @default.
- NCIT_C122790 subClassOf NCIT_C53531 @default.
- NCIT_C122790 subClassOf NCIT_C53543 @default.
- NCIT_C122790 subClassOf NCIT_C53547 @default.
- NCIT_C122790 subClassOf NCIT_C7057 @default.
- NCIT_C122790 subClassOf NCIT_C84913 @default.