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MeSH 搜索器

Pallister-Hall Syndrome

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.
推出的年份: 2009
副标题
树号: 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
MeSH 单一 ID: D054975
进入的组:
  • Pallister Hall Syndrome
  • Syndrome, Pallister-Hall
  • Cerebroacrovisceral Early Lethality Complex
  • Hypothalamic Hamartoblastoma Syndrome
  • Hamartoblastoma Syndrome, Hypothalamic
  • Hamartoblastoma Syndromes, Hypothalamic
  • Hypothalamic Hamartoblastoma Syndromes
  • Syndrome, Hypothalamic Hamartoblastoma
  • Syndromes, Hypothalamic Hamartoblastoma
  • CAVE Complex
  • CAVE Complices
  • Complex, CAVE
  • Complices, CAVE
  • Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly
  • Hall-Pallister Syndrome
  • Hall Pallister Syndrome
  • Syndrome, Hall-Pallister

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