Search Ontology:
Human Disease
Pallister-Hall syndrome
- Term ID
- DOID:9248
- Synonyms
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- 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
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- GARD:7305
- MESH:D054975
- MIM:146510
- NCI:C84987
- SNOMEDCT_US_2023_03_01:56677004
- UMLS_CUI:C0265220
- Ontology
- Human Disease ( DOID:9248 )
- is a type of
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Genes Involved
Zebrafish Models