"Pallister-Hall Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D054975
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| MeSH 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
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| Concept/Terms |
Pallister-Hall Syndrome- Pallister-Hall Syndrome
- Pallister Hall Syndrome
- Syndrome, Pallister-Hall
- Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly
|
Below are MeSH descriptors whose meaning is more general than "Pallister-Hall Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Pallister-Hall Syndrome".
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Below are the most recent publications written about "Pallister-Hall Syndrome" by people in Profiles.