Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C99100> ?p ?o ?g. }
Showing items 1 to 36 of
36
with 100 items per page.
- NCIT_C99100 IAO_0000115 "An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR1 or FGFR2 genes. It is characterized by early closure of the sutures between the skull bones, bulging and wide-set eyes, broad thumbs, big toes, and partial syndactyly in the hands and toes." @default.
- NCIT_C99100 NCIT_A13 NCIT_C19929 @default.
- NCIT_C99100 NCIT_A13 NCIT_C19931 @default.
- NCIT_C99100 NCIT_NHC0 "C99100" @default.
- NCIT_C99100 NCIT_P106 "Congenital Abnormality" @default.
- NCIT_C99100 NCIT_P108 "Type V Acrocephalosyndactyly" @default.
- NCIT_C99100 NCIT_P207 "C0220658" @default.
- NCIT_C99100 NCIT_P322 "Cellosaurus" @default.
- NCIT_C99100 NCIT_P322 "NICHD" @default.
- NCIT_C99100 normalizedInformationContent "100" @default.
- NCIT_C99100 referenceCount "1" @default.
- NCIT_C99100 hasExactSynonym "Acrocephalosyndactyly Type V" @default.
- NCIT_C99100 hasExactSynonym "Noack Syndrome" @default.
- NCIT_C99100 hasExactSynonym "Pfeiffer Syndrome" @default.
- NCIT_C99100 hasExactSynonym "Type V Acrocephalosyndactyly" @default.
- NCIT_C99100 inSubset NCIT_C165258 @default.
- NCIT_C99100 inSubset NCIT_C192842 @default.
- NCIT_C99100 inSubset NCIT_C90259 @default.
- NCIT_C99100 inSubset NCIT_C99147 @default.
- NCIT_C99100 type Class @default.
- NCIT_C99100 isDefinedBy ncit.owl @default.
- NCIT_C99100 label "Type V Acrocephalosyndactyly" @default.
- NCIT_C99100 subClassOf B6b9dbcd0022f7b5bbffef310dd6921a1 @default.
- NCIT_C99100 subClassOf B89563ec774a25ff00a1538bb01f57d7e @default.
- NCIT_C99100 subClassOf NCIT_C28193 @default.
- NCIT_C99100 subClassOf NCIT_C2849 @default.
- NCIT_C99100 subClassOf NCIT_C2991 @default.
- NCIT_C99100 subClassOf NCIT_C34348 @default.
- NCIT_C99100 subClassOf NCIT_C36287 @default.
- NCIT_C99100 subClassOf NCIT_C4873 @default.
- NCIT_C99100 subClassOf NCIT_C53529 @default.
- NCIT_C99100 subClassOf NCIT_C53543 @default.
- NCIT_C99100 subClassOf NCIT_C53547 @default.
- NCIT_C99100 subClassOf NCIT_C7057 @default.
- NCIT_C99100 subClassOf NCIT_C97151 @default.
- NCIT_C99100 subClassOf NCIT_C99100 @default.