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Summary Literature (1)
DOID:9248 - Pallister-Hall syndrome


Disease Ontology Definition:n_a

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 : gli3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007804 - Pallister-hall syndrome

OMIM:
OMIM:146510 - PALLISTER-HALL SYNDROME; PHS

Other Model Organisms: AGR, 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)