Matches in Ubergraph for { <http://purl.obolibrary.org/obo/MONDO_0016110> ?p ?o ?g. }
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- MONDO_0016110 IAO_0000115 "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.
- MONDO_0016110 IAO_0000231 OMO_0001000 @default.
- MONDO_0016110 IAO_0000233 "https://github.com/monarch-initiative/mondo/issues/5045" @default.
- MONDO_0016110 normalizedInformationContent "100" @default.
- MONDO_0016110 referenceCount "1" @default.
- MONDO_0016110 hasDbXref "GARD:20363" @default.
- MONDO_0016110 hasDbXref "NCIT:C122787" @default.
- MONDO_0016110 hasDbXref "Orphanet:206656" @default.
- MONDO_0016110 hasDbXref "SCTID:424795008" @default.
- MONDO_0016110 hasDbXref "UMLS:C1828221" @default.
- MONDO_0016110 hasExactSynonym "non dystrophic myotonia" @default.
- MONDO_0016110 hasExactSynonym "non-dystrophic myotonia" @default.
- MONDO_0016110 id "MONDO:0016110" @default.
- MONDO_0016110 inSubset disease_grouping @default.
- MONDO_0016110 inSubset gard_rare @default.
- MONDO_0016110 inSubset ordo_group_of_disorders @default.
- MONDO_0016110 inSubset rare @default.
- MONDO_0016110 type Class @default.
- MONDO_0016110 comment "Reason: grouping class. Term to consider: none" @default.
- MONDO_0016110 isDefinedBy mondo.owl @default.
- MONDO_0016110 label "obsolete non-dystrophic myopathy" @default.
- MONDO_0016110 subClassOf MONDO_0016110 @default.
- MONDO_0016110 subClassOf Thing @default.
- MONDO_0016110 deprecated "true" @default.
- MONDO_0016110 exactMatch NCIT_C122787 @default.
- MONDO_0016110 exactMatch 424795008 @default.
- MONDO_0016110 exactMatch C1828221 @default.
- MONDO_0016110 exactMatch Orphanet_206656 @default.