Term Name: | Pallister-Hall syndrome |
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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 ) |