Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C176941> ?p ?o ?g. }
Showing items 1 to 28 of
28
with 100 items per page.
- NCIT_C176941 IAO_0000115 "An inherited condition caused by autosomal dominant mutation(s) in the SPRED1 gene, encoding sprouty-related, EVH1 domain-containing protein 1. The condition resembles neurofibromatosis type I but is less severe. Affected individuals may present with multiple cafe-au-lait spots, variable dysmorphic features, including hypertelorism or macrocephaly, lipomas, and mild learning disabilities or attention problems." @default.
- NCIT_C176941 NCIT_A13 NCIT_C102821 @default.
- NCIT_C176941 NCIT_NHC0 "C176941" @default.
- NCIT_C176941 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C176941 NCIT_P108 "Legius Syndrome" @default.
- NCIT_C176941 NCIT_P207 "C1969623" @default.
- NCIT_C176941 NCIT_P322 "CCPS" @default.
- NCIT_C176941 NCIT_R176 NCIT_C102821 @default.
- NCIT_C176941 NCIT_R176 NCIT_C16612 @default.
- NCIT_C176941 NCIT_R176 NCIT_C20921 @default.
- NCIT_C176941 normalizedInformationContent "100" @default.
- NCIT_C176941 referenceCount "1" @default.
- NCIT_C176941 hasExactSynonym "LGSS" @default.
- NCIT_C176941 hasExactSynonym "Legius Syndrome" @default.
- NCIT_C176941 hasExactSynonym "Neurofibromatosis Type 1-like Syndrome" @default.
- NCIT_C176941 inSubset NCIT_C177281 @default.
- NCIT_C176941 inSubset NCIT_C177516 @default.
- NCIT_C176941 type Class @default.
- NCIT_C176941 isDefinedBy ncit.owl @default.
- NCIT_C176941 label "Legius Syndrome" @default.
- NCIT_C176941 subClassOf B4b90f57efa65150eb19e037427b75cfc @default.
- NCIT_C176941 subClassOf B628c20a04a4e0cb173f609c06c81cdc8 @default.
- NCIT_C176941 subClassOf NCIT_C176941 @default.
- NCIT_C176941 subClassOf NCIT_C179667 @default.
- NCIT_C176941 subClassOf NCIT_C28193 @default.
- NCIT_C176941 subClassOf NCIT_C2991 @default.
- NCIT_C176941 subClassOf NCIT_C3101 @default.
- NCIT_C176941 subClassOf NCIT_C7057 @default.