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Pallister-Hall Syndrome MeSH Descriptor Data 2022


MeSH Heading
Pallister-Hall Syndrome
Tree Number(s)
C04.445.622
C04.588.614.250.195.885.500.299
C05.660.585.600.374
C10.228.140.211.885.500.299
C10.228.140.617.477.299
C10.551.240.250.700.500.249
C16.131.077.690
C16.131.621.585.600.374
Unique ID
D054975
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D054975
Scope Note
A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and postaxial POLYDACTYLY; bifid EPIGLOTTIS; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3 protein, a KRUPPEL-LIKE TRANSCRIPTION FACTORS family member.
Entry Term(s)
CAVE Complex
Cerebroacrovisceral Early Lethality Complex
Hall-Pallister Syndrome
Hypothalamic Hamartoblastoma Syndrome
Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly
Public MeSH Note
2009
History Note
2009
Date Established
2009/01/01
Date of Entry
2008/07/08
Revision Date
2013/07/08
Pallister-Hall Syndrome Preferred
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