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Metadata
ID DOID:9248
Name Pallister-Hall syndrome
Xrefs

GARD:7305

MESH:D054975

NCI:C84987

OMIM:146510

SNOMEDCT_US_2018_03_01:56677004

UMLS_CUI:C0265220

Subsets

NCIthesaurus

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. [EXACT]

Parent Relationships

is_a syndrome

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