Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C192635> ?p ?o ?g. }
Showing items 1 to 27 of
27
with 100 items per page.
- NCIT_C192635 IAO_0000115 "An autosomal dominant condition caused by mutations(s) in the CTBP1 gene, encoding C-terminal-binding protein 1. It is characterized by hypotonia, ataxia, developmental delay, and tooth enamel defects." @default.
- NCIT_C192635 NCIT_NHC0 "C192635" @default.
- NCIT_C192635 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C192635 NCIT_P108 "Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome" @default.
- NCIT_C192635 NCIT_P322 "Cellosaurus" @default.
- NCIT_C192635 NCIT_R176 NCIT_C16612 @default.
- NCIT_C192635 NCIT_R176 NCIT_C20703 @default.
- NCIT_C192635 NCIT_R176 NCIT_C20710 @default.
- NCIT_C192635 NCIT_R176 NCIT_C21281 @default.
- NCIT_C192635 NCIT_R176 NCIT_C21400 @default.
- NCIT_C192635 NCIT_R176 NCIT_C25939 @default.
- NCIT_C192635 NCIT_R176 NCIT_C54362 @default.
- NCIT_C192635 normalizedInformationContent "100" @default.
- NCIT_C192635 referenceCount "1" @default.
- NCIT_C192635 hasExactSynonym "HADDTS" @default.
- NCIT_C192635 hasExactSynonym "Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome" @default.
- NCIT_C192635 inSubset NCIT_C165258 @default.
- NCIT_C192635 inSubset NCIT_C192842 @default.
- NCIT_C192635 type Class @default.
- NCIT_C192635 isDefinedBy ncit.owl @default.
- NCIT_C192635 label "Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome" @default.
- NCIT_C192635 subClassOf Ba3a734d4b540239029c943afcb532836 @default.
- NCIT_C192635 subClassOf Bb2717ce531e228c77058e6061454e21d @default.
- NCIT_C192635 subClassOf NCIT_C192635 @default.
- NCIT_C192635 subClassOf NCIT_C28193 @default.
- NCIT_C192635 subClassOf NCIT_C2991 @default.
- NCIT_C192635 subClassOf NCIT_C7057 @default.