Pallister-Hall syndrome

Summary

DOID:9248 - Pallister-Hall syndrome

Disease Ontology 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.

Synonyms: 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., Pallister-Hall syndrome (disorder)

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gli3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007804 - Pallister-Hall syndrome

MONDO:0007804 - Pallister-Hall syndrome

MIM:

MIM:146510 - PALLISTER-HALL SYNDROME; PHS

MIM:146510 - PALLISTER-HALL SYNDROME; PHS

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), physical disorder (is_a), syndrome (is_a)