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Disease Pallister-Hall Syndrome

Name Pallister-Hall Syndrome
Synonyms 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 | Pallister Hall Syndrome | PHS | Syndrome, Hall-Pallister | Syndrome, Hypothalamic Hamartoblastoma | Syndrome, Pallister-Hall | Syndromes, Hypothalamic Hamartoblastoma
Definition 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.
Categories Cancer | Congenital abnormality | Musculoskeletal disease | Nervous system disease
MeSH® ID D054975
OMIM® ID 146510
External Links

Top ↑ Ancestors

1. DiseasesNeoplasms Has associated chemicals Has associated genes Has associated exposure references Hamartoma Has associated chemicals Has associated genes Pallister-Hall Syndrome Has associated chemicals Has associated genes
2. DiseasesNeoplasms Has associated chemicals Has associated genes Has associated exposure references Neoplasms by Site Has associated chemicals Has associated genes Has associated exposure references Nervous System Neoplasms Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Neoplasms Has associated chemicals Has associated genes Has associated exposure references Brain Neoplasms Has associated chemicals Has associated genes Has associated exposure references Supratentorial Neoplasms Has associated chemicals Has associated genes Hypothalamic Neoplasms Has associated chemicals Has associated genes Pallister-Hall Syndrome Has associated chemicals Has associated genes
3. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Musculoskeletal Abnormalities Has associated chemicals Has associated genes Has associated exposure references Limb Deformities, Congenital Has associated chemicals Has associated genes Polydactyly Has associated chemicals Has associated genes Pallister-Hall Syndrome Has associated chemicals Has associated genes
4. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Neoplasms Has associated chemicals Has associated genes Has associated exposure references Supratentorial Neoplasms Has associated chemicals Has associated genes Hypothalamic Neoplasms Has associated chemicals Has associated genes Pallister-Hall Syndrome Has associated chemicals Has associated genes
5. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Hypothalamic Diseases Has associated chemicals Has associated genes Hypothalamic Neoplasms Has associated chemicals Has associated genes Pallister-Hall Syndrome Has associated chemicals Has associated genes
6. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Nervous System Neoplasms Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Neoplasms Has associated chemicals Has associated genes Has associated exposure references Brain Neoplasms Has associated chemicals Has associated genes Has associated exposure references Supratentorial Neoplasms Has associated chemicals Has associated genes Hypothalamic Neoplasms Has associated chemicals Has associated genes Pallister-Hall Syndrome Has associated chemicals Has associated genes
7. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Abnormalities, Multiple Has associated chemicals Has associated genes Pallister-Hall Syndrome Has associated chemicals Has associated genes
8. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Musculoskeletal Abnormalities Has associated chemicals Has associated genes Has associated exposure references Limb Deformities, Congenital Has associated chemicals Has associated genes Polydactyly Has associated chemicals Has associated genes Pallister-Hall Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

Pallister-Hall Syndrome Has associated chemicals Has associated genes
  CULLER-JONES SYNDROME Has associated chemicals Has associated genes