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- NCIT_C84987 IAO_0000115 "A very rare autosomal dominant inherited disorder caused by mutations in the GLI3 gene. It is characterized by a spectrum of abnormalities which include polydactyly, cutaneous syndactyly, bifid epiglottis, hypothalamic hamartoma, and laryngotracheal cleft." @default.
- NCIT_C84987 NCIT_NHC0 "C84987" @default.
- NCIT_C84987 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C84987 NCIT_P108 "Pallister-Hall Syndrome" @default.
- NCIT_C84987 NCIT_P207 "C0265220" @default.
- NCIT_C84987 NCIT_P322 "NICHD" @default.
- NCIT_C84987 NCIT_P325 "A syndrome caused by dominant negative mutations in the GLI3 gene, encoding the transcriptional activator GLI3. The condition is characterized by a spectrum of clinical features including hypothalamic hamartoma, hypopituitarism, bifid epiglottis, laryngotracheal cleft, polydactyly, and cutaneous syndactyly." @default.
- NCIT_C84987 NCIT_R176 NCIT_C16612 @default.
- NCIT_C84987 NCIT_R176 NCIT_C18452 @default.
- NCIT_C84987 NCIT_R176 NCIT_C18529 @default.
- NCIT_C84987 NCIT_R176 NCIT_C20420 @default.
- NCIT_C84987 NCIT_R176 NCIT_C54362 @default.
- NCIT_C84987 normalizedInformationContent "100" @default.
- NCIT_C84987 referenceCount "1" @default.
- NCIT_C84987 hasExactSynonym "Ano-cerebro-digital Syndrome" @default.
- NCIT_C84987 hasExactSynonym "Hypothalamic Hamartoblastoma Syndrome" @default.
- NCIT_C84987 hasExactSynonym "Pallister-Hall Syndrome" @default.
- NCIT_C84987 inSubset NCIT_C118467 @default.
- NCIT_C84987 inSubset NCIT_C90259 @default.
- NCIT_C84987 type Class @default.
- NCIT_C84987 isDefinedBy ncit.owl @default.
- NCIT_C84987 label "Pallister-Hall Syndrome" @default.
- NCIT_C84987 subClassOf Bbbb6d16727632388351e9d0f1ec0e5ea @default.
- NCIT_C84987 subClassOf Bc7acca5f0cd42e6e364e5727ebd10abb @default.
- NCIT_C84987 subClassOf NCIT_C28193 @default.
- NCIT_C84987 subClassOf NCIT_C2991 @default.
- NCIT_C84987 subClassOf NCIT_C4873 @default.
- NCIT_C84987 subClassOf NCIT_C53529 @default.
- NCIT_C84987 subClassOf NCIT_C53543 @default.
- NCIT_C84987 subClassOf NCIT_C53547 @default.
- NCIT_C84987 subClassOf NCIT_C7057 @default.
- NCIT_C84987 subClassOf NCIT_C84987 @default.