Pallister-Hall syndrome

Summary
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.
Super Class
autosomal dominant disease syndrome
Disease Ontology
DOID:9248
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2737 GLI3 GLI family zinc finger 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
14634 Gli3 GLI-Kruppel family member GLI3

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024