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Metadata
ID	DOID:9248
Name	Pallister-Hall syndrome
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. https://pubmed.ncbi.nlm.nih.gov/31011455/, https://pubmed.ncbi.nlm.nih.gov/8914745/, https://research.nhgri.nih.gov/atlas/condition/pallister-hall-syndrome
Xrefs	GARD:7305 MESH:D054975 MIM:146510 NCI:C84987 SNOMEDCT_US_2023_03_01:56677004 UMLS_CUI:C0265220
Subsets	DO_rare_slim NCIthesaurus
Parent Relationships	is_a syndrome is_a autosomal dominant disease