About   Help   FAQ
Disease Ontology Browser
Pallister-Hall syndrome (DOID:9248)
Alliance: disease page
Alt IDs: OMIM:146510, MESH:D054975, NCI:C84987, UMLS_CUI:C0265220
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.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
09/27/2022
MGI 6.21
The Jackson Laboratory