Terminology Service for NFDI4Health
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Pallister-Hall Syndrome

Go to external page http://purl.obolibrary.org/obo/NCIT_C84987

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. [ ]

Term info

Label

Pallister-Hall Syndrome

Synonyms
  • Ano-cerebro-digital Syndrome
  • Hypothalamic Hamartoblastoma Syndrome
  • Pallister-Hall Syndrome
Subsets

NCIT_C90259, NCIT_C118467

ALT DEFINITION

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.

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C28193

NICHD Hierarchy Term

Pallister-Hall Syndrome

Preferred Name

Pallister-Hall Syndrome

Semantic Type

Disease or Syndrome

UMLS CUI

C0265220

code

C84987