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- NCIT_C178129 IAO_0000115 "An inherited condition caused by autosomal dominant mutation(s) in the SHOC2 or PPP1CB genes, encoding leucine-rich repeat protein SHOC-2 and serine/threonine-protein phosphatase PP1-beta catalytic subunit, respectively. The condition is characterized by facial features similar to those seen in Noonan syndrome but may also include short stature, cognitive deficits, relative macrocephaly, small posterior fossa resulting in Chiari I malformation, hypernasal voice, cardiac defects, and ectodermal abnormalities, which typically presents as slow-growing, sparse, and/or unruly hair." @default.
- NCIT_C178129 NCIT_A13 NCIT_C177106 @default.
- NCIT_C178129 NCIT_A13 NCIT_C177158 @default.
- NCIT_C178129 NCIT_NHC0 "C178129" @default.
- NCIT_C178129 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C178129 NCIT_P108 "Noonan Syndrome-Like Disorder with Loose Anagen Hair" @default.
- NCIT_C178129 NCIT_P207 "C3501846" @default.
- NCIT_C178129 NCIT_P322 "CCPS" @default.
- NCIT_C178129 normalizedInformationContent "92.730304365937428" @default.
- NCIT_C178129 referenceCount "3" @default.
- NCIT_C178129 hasExactSynonym "NSLH" @default.
- NCIT_C178129 hasExactSynonym "Noonan Syndrome-Like Disorder with Loose Anagen Hair" @default.
- NCIT_C178129 inSubset NCIT_C177281 @default.
- NCIT_C178129 inSubset NCIT_C177516 @default.
- NCIT_C178129 type Class @default.
- NCIT_C178129 isDefinedBy ncit.owl @default.
- NCIT_C178129 label "Noonan Syndrome-Like Disorder with Loose Anagen Hair" @default.
- NCIT_C178129 subClassOf NCIT_C178129 @default.
- NCIT_C178129 subClassOf NCIT_C179667 @default.
- NCIT_C178129 subClassOf NCIT_C28193 @default.
- NCIT_C178129 subClassOf NCIT_C2991 @default.
- NCIT_C178129 subClassOf NCIT_C3101 @default.
- NCIT_C178129 subClassOf NCIT_C7057 @default.