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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Pallister-Hall Syndrome
Musculoskeletal Diseases > Musculoskeletal Abnormalities > Limb Deformities, Congenital > Polydactyly > Pallister-Hall Syndrome
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Musculoskeletal Abnormalities > Limb Deformities, Congenital > Polydactyly > Pallister-Hall Syndrome
Neoplasms > Hamartoma > Pallister-Hall Syndrome
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Hypothalamic Diseases > Hypothalamic Neoplasms > Pallister-Hall Syndrome
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Neoplasms > Supratentorial Neoplasms > Hypothalamic Neoplasms > Pallister-Hall Syndrome
... > Nervous System Diseases > Nervous System Neoplasms > Central Nervous System Neoplasms > Brain Neoplasms > Supratentorial Neoplasms > Hypothalamic Neoplasms > Pallister-Hall Syndrome
... > Neoplasms > Neoplasms by Site > Nervous System Neoplasms > Central Nervous System Neoplasms > Brain Neoplasms > Supratentorial Neoplasms > Hypothalamic Neoplasms > Pallister-Hall Syndrome

Preferred term

Pallister-Hall Syndrome  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • CAVE Complex
  • CAVE Complices
  • Cerebroacrovisceral Early Lethality Complex
  • Complex, CAVE
  • Complices, CAVE
  • Hall Pallister Syndrome
  • Hall-Pallister Syndrome
  • Hamartoblastoma Syndrome, Hypothalamic
  • Hamartoblastoma Syndromes, Hypothalamic
  • Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly
  • Hypothalamic Hamartoblastoma Syndrome
  • Hypothalamic Hamartoblastoma Syndromes
  • Syndrome, Hall-Pallister
  • Syndrome, Hypothalamic Hamartoblastoma
  • Syndromes, Hypothalamic Hamartoblastoma

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.

History note

  • 2009

In other languages

URI

http://www.yso.fi/onto/mesh/D054975

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