Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C34807> ?p ?o ?g. }
Showing items 1 to 52 of
52
with 100 items per page.
- NCIT_C34807 IAO_0000115 "A genetic syndrome inherited as an autosomal dominant trait. It is caused by mutations in the FBN1 gene. It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens." @default.
- NCIT_C34807 NCIT_A13 NCIT_C75336 @default.
- NCIT_C34807 NCIT_NHC0 "C34807" @default.
- NCIT_C34807 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C34807 NCIT_P108 "Marfan Syndrome" @default.
- NCIT_C34807 NCIT_P207 "C0024796" @default.
- NCIT_C34807 NCIT_P322 "ACC/AHA" @default.
- NCIT_C34807 NCIT_P322 "Cellosaurus" @default.
- NCIT_C34807 NCIT_P322 "NICHD" @default.
- NCIT_C34807 NCIT_P325 "A genetic syndrome inherited as an autosomal dominant trait. It is caused by mutations in the FBN1 gene. It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. Diagnosis is made based on the 2010 Revised Ghent Nosology for Marfan syndrome." @default.
- NCIT_C34807 NCIT_P325 "An autosomal dominant condition caused by mutation(s) in the FBN1 gene, encoding fibrillin-1. This condition is characterized by tall stature, disproportionately long limbs, arachnodactyly, and hyperextensible joints; additional features may include scoliosis, kyphosis, pectus excavatum/carinatum, mitral valve prolapse, aortic dilatation, aortic dissection, and upward subluxation of one or both ocular lens." @default.
- NCIT_C34807 NCIT_P366 "Marfan_s_Syndrome" @default.
- NCIT_C34807 NCIT_R100 NCIT_C12219 @default.
- NCIT_C34807 NCIT_R100 NCIT_C12366 @default.
- NCIT_C34807 NCIT_R100 NCIT_C12801 @default.
- NCIT_C34807 NCIT_R100 NCIT_C12964 @default.
- NCIT_C34807 NCIT_R100 NCIT_C25769 @default.
- NCIT_C34807 NCIT_R100 NCIT_C32221 @default.
- NCIT_C34807 NCIT_R100 NCIT_C34076 @default.
- NCIT_C34807 NCIT_R176 NCIT_C16612 @default.
- NCIT_C34807 NCIT_R176 NCIT_C20744 @default.
- NCIT_C34807 NCIT_R176 NCIT_C26000 @default.
- NCIT_C34807 NCIT_R176 NCIT_C75336 @default.
- NCIT_C34807 normalizedInformationContent "100" @default.
- NCIT_C34807 referenceCount "1" @default.
- NCIT_C34807 hasExactSynonym "Marfan Syndrome" @default.
- NCIT_C34807 hasExactSynonym "Marfan syndrome" @default.
- NCIT_C34807 hasExactSynonym "Marfan's Syndrome" @default.
- NCIT_C34807 inSubset NCIT_C118467 @default.
- NCIT_C34807 inSubset NCIT_C118468 @default.
- NCIT_C34807 inSubset NCIT_C165258 @default.
- NCIT_C34807 inSubset NCIT_C167409 @default.
- NCIT_C34807 inSubset NCIT_C192842 @default.
- NCIT_C34807 inSubset NCIT_C90259 @default.
- NCIT_C34807 inSubset NCIT_C99147 @default.
- NCIT_C34807 type Class @default.
- NCIT_C34807 isDefinedBy ncit.owl @default.
- NCIT_C34807 label "Marfan Syndrome" @default.
- NCIT_C34807 subClassOf B4672bfff92d03355d8359baf6d4e1169 @default.
- NCIT_C34807 subClassOf Bf5035bf9bce7fbf725b29609e6d0114e @default.
- NCIT_C34807 subClassOf NCIT_C26729 @default.
- NCIT_C34807 subClassOf NCIT_C27551 @default.
- NCIT_C34807 subClassOf NCIT_C27574 @default.
- NCIT_C34807 subClassOf NCIT_C28193 @default.
- NCIT_C34807 subClassOf NCIT_C2991 @default.
- NCIT_C34807 subClassOf NCIT_C34807 @default.
- NCIT_C34807 subClassOf NCIT_C4873 @default.
- NCIT_C34807 subClassOf NCIT_C53529 @default.
- NCIT_C34807 subClassOf NCIT_C53543 @default.
- NCIT_C34807 subClassOf NCIT_C53547 @default.
- NCIT_C34807 subClassOf NCIT_C7057 @default.
- NCIT_C34807 subClassOf NCIT_C97075 @default.