Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C124852> ?p ?o ?g. }
Showing items 1 to 33 of
33
with 100 items per page.
- NCIT_C124852 IAO_0000115 "A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip." @default.
- NCIT_C124852 NCIT_NHC0 "C124852" @default.
- NCIT_C124852 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C124852 NCIT_P108 "Miller-Dieker Syndrome" @default.
- NCIT_C124852 NCIT_P207 "C0265219" @default.
- NCIT_C124852 NCIT_P322 "Cellosaurus" @default.
- NCIT_C124852 NCIT_R174 NCIT_C12219 @default.
- NCIT_C124852 NCIT_R174 NCIT_C13202 @default.
- NCIT_C124852 NCIT_R174 NCIT_C13203 @default.
- NCIT_C124852 NCIT_R174 NCIT_C13212 @default.
- NCIT_C124852 NCIT_R174 NCIT_C13404 @default.
- NCIT_C124852 NCIT_R174 NCIT_C14134 @default.
- NCIT_C124852 NCIT_R174 NCIT_C21599 @default.
- NCIT_C124852 normalizedInformationContent "100" @default.
- NCIT_C124852 referenceCount "1" @default.
- NCIT_C124852 hasExactSynonym "Miller-Dieker Lissencephaly Syndrome" @default.
- NCIT_C124852 hasExactSynonym "Miller-Dieker Syndrome" @default.
- NCIT_C124852 inSubset NCIT_C165258 @default.
- NCIT_C124852 inSubset NCIT_C192842 @default.
- NCIT_C124852 type Class @default.
- NCIT_C124852 isDefinedBy ncit.owl @default.
- NCIT_C124852 label "Miller-Dieker Syndrome" @default.
- NCIT_C124852 subClassOf B15724cc828ced331862e27b147db7f5e @default.
- NCIT_C124852 subClassOf B74343f512d0f7280bee578cb51c550e7 @default.
- NCIT_C124852 subClassOf NCIT_C103921 @default.
- NCIT_C124852 subClassOf NCIT_C124852 @default.
- NCIT_C124852 subClassOf NCIT_C28193 @default.
- NCIT_C124852 subClassOf NCIT_C2991 @default.
- NCIT_C124852 subClassOf NCIT_C4873 @default.
- NCIT_C124852 subClassOf NCIT_C53529 @default.
- NCIT_C124852 subClassOf NCIT_C53543 @default.
- NCIT_C124852 subClassOf NCIT_C53547 @default.
- NCIT_C124852 subClassOf NCIT_C7057 @default.