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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

NCI:C84987

OMIM:146510

SNOMEDCT_US_2023_03_01:56677004

UMLS_CUI:C0265220

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DO_rare_slim

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is_a syndrome

is_a autosomal dominant disease

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