Term Name: Pallister-Hall syndrome
Synonyms:
Definition: A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14.
Ontology: Human Disease [DOID:9248]   ( DOID:9248 )

Relationships
is a type of: autosomal dominant disease syndrome