Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C163754> ?p ?o ?g. }
Showing items 1 to 30 of
30
with 100 items per page.
- NCIT_C163754 IAO_0000115 "An autosomal dominant condition caused by mutation(s) in the CHAMP1 gene, encoding chromosome alignment-maintaining phosphoprotein 1. It is characterized by moderate to severe intellectual disability with poor speech acquisition. Variable dysmorphic features may be present as well." @default.
- NCIT_C163754 NCIT_NHC0 "C163754" @default.
- NCIT_C163754 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C163754 NCIT_P108 "Mental Retardation, Autosomal Dominant 40" @default.
- NCIT_C163754 NCIT_P207 "C4225275" @default.
- NCIT_C163754 NCIT_P322 "Cellosaurus" @default.
- NCIT_C163754 NCIT_R176 NCIT_C16612 @default.
- NCIT_C163754 NCIT_R176 NCIT_C190805 @default.
- NCIT_C163754 NCIT_R176 NCIT_C20917 @default.
- NCIT_C163754 normalizedInformationContent "100" @default.
- NCIT_C163754 referenceCount "1" @default.
- NCIT_C163754 hasExactSynonym "MRD40" @default.
- NCIT_C163754 hasExactSynonym "Mental Retardation, Autosomal Dominant 40" @default.
- NCIT_C163754 inSubset NCIT_C165258 @default.
- NCIT_C163754 inSubset NCIT_C192842 @default.
- NCIT_C163754 type Class @default.
- NCIT_C163754 isDefinedBy ncit.owl @default.
- NCIT_C163754 label "Mental Retardation, Autosomal Dominant 40" @default.
- NCIT_C163754 subClassOf B68149849db0b435ae3df7ece119bc3e7 @default.
- NCIT_C163754 subClassOf B7a2805eda49b66e5317da8d909a1c8d1 @default.
- NCIT_C163754 subClassOf NCIT_C163754 @default.
- NCIT_C163754 subClassOf NCIT_C2991 @default.
- NCIT_C163754 subClassOf NCIT_C4873 @default.
- NCIT_C163754 subClassOf NCIT_C53529 @default.
- NCIT_C163754 subClassOf NCIT_C53543 @default.
- NCIT_C163754 subClassOf NCIT_C53547 @default.
- NCIT_C163754 subClassOf NCIT_C7057 @default.
- NCIT_C163754 subClassOf NCIT_C84392 @default.
- NCIT_C163754 subClassOf NCIT_C89328 @default.
- NCIT_C163754 subClassOf NCIT_C89330 @default.