Pallister-Hall syndrome

Term ID

DOID:9248

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. (3)

References

• GARD:7305
• MESH:D054975
• NCI:C84987
• OMIM:146510
• SNOMEDCT_US_2023_03_01:56677004
• UMLS_CUI:C0265220

Ontology

Human Disease   ( DOID:9248 )