Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C188994> ?p ?o ?g. }
Showing items 1 to 29 of
29
with 100 items per page.
- NCIT_C188994 IAO_0000115 "An autosomal recessive condition caused by mutation(s) in the FAT4 gene, encoding protocadherin Fat 4. It is characterized by periventricular nodular heterotopia, renal hypoplasia, hand anomalies, and skeletal dysplasia." @default.
- NCIT_C188994 NCIT_NHC0 "C188994" @default.
- NCIT_C188994 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C188994 NCIT_P108 "Van Maldergem Syndrome 2" @default.
- NCIT_C188994 NCIT_P207 "C3809875" @default.
- NCIT_C188994 NCIT_P322 "Cellosaurus" @default.
- NCIT_C188994 NCIT_R176 NCIT_C128254 @default.
- NCIT_C188994 NCIT_R176 NCIT_C16612 @default.
- NCIT_C188994 NCIT_R176 NCIT_C20988 @default.
- NCIT_C188994 NCIT_R176 NCIT_C21295 @default.
- NCIT_C188994 normalizedInformationContent "100" @default.
- NCIT_C188994 referenceCount "1" @default.
- NCIT_C188994 hasExactSynonym "VMLDS2" @default.
- NCIT_C188994 hasExactSynonym "Van Maldergem Syndrome 2" @default.
- NCIT_C188994 inSubset NCIT_C165258 @default.
- NCIT_C188994 inSubset NCIT_C192842 @default.
- NCIT_C188994 type Class @default.
- NCIT_C188994 isDefinedBy ncit.owl @default.
- NCIT_C188994 label "Van Maldergem Syndrome 2" @default.
- NCIT_C188994 subClassOf B9e637797fd78bf9dd3c25a47b0584dfb @default.
- NCIT_C188994 subClassOf Baf47ca8fdcc46870b6ae234b0bce9c3e @default.
- NCIT_C188994 subClassOf NCIT_C188994 @default.
- NCIT_C188994 subClassOf NCIT_C28193 @default.
- NCIT_C188994 subClassOf NCIT_C2991 @default.
- NCIT_C188994 subClassOf NCIT_C4873 @default.
- NCIT_C188994 subClassOf NCIT_C53529 @default.
- NCIT_C188994 subClassOf NCIT_C53543 @default.
- NCIT_C188994 subClassOf NCIT_C53547 @default.
- NCIT_C188994 subClassOf NCIT_C7057 @default.