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- NCIT_C141424 IAO_0000115 "An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures." @default.
- NCIT_C141424 NCIT_NHC0 "C141424" @default.
- NCIT_C141424 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C141424 NCIT_P108 "Mental Retardation, Autosomal Dominant 1" @default.
- NCIT_C141424 NCIT_P207 "C1969562" @default.
- NCIT_C141424 NCIT_P322 "Cellosaurus" @default.
- NCIT_C141424 NCIT_R176 NCIT_C16612 @default.
- NCIT_C141424 NCIT_R176 NCIT_C190669 @default.
- NCIT_C141424 NCIT_R176 NCIT_C21295 @default.
- NCIT_C141424 normalizedInformationContent "100" @default.
- NCIT_C141424 referenceCount "1" @default.
- NCIT_C141424 hasExactSynonym "MRD1" @default.
- NCIT_C141424 hasExactSynonym "Mental Retardation, Autosomal Dominant 1" @default.
- NCIT_C141424 inSubset NCIT_C165258 @default.
- NCIT_C141424 inSubset NCIT_C192842 @default.
- NCIT_C141424 type Class @default.
- NCIT_C141424 isDefinedBy ncit.owl @default.
- NCIT_C141424 label "Mental Retardation, Autosomal Dominant 1" @default.
- NCIT_C141424 subClassOf B8706062298a6e5cd2f7785d2b6b498d5 @default.
- NCIT_C141424 subClassOf Bcb4f55fe17a91ec9205721341a5996e0 @default.
- NCIT_C141424 subClassOf NCIT_C141424 @default.
- NCIT_C141424 subClassOf NCIT_C2991 @default.
- NCIT_C141424 subClassOf NCIT_C4873 @default.
- NCIT_C141424 subClassOf NCIT_C53529 @default.
- NCIT_C141424 subClassOf NCIT_C53543 @default.
- NCIT_C141424 subClassOf NCIT_C53547 @default.
- NCIT_C141424 subClassOf NCIT_C7057 @default.
- NCIT_C141424 subClassOf NCIT_C84392 @default.
- NCIT_C141424 subClassOf NCIT_C89328 @default.
- NCIT_C141424 subClassOf NCIT_C89330 @default.