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Endocrine System Diseases > Dwarfism > Mulibrey Nanism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Dwarfism > Mulibrey Nanism
Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Dwarfism > Mulibrey Nanism

Preferred term

Mulibrey Nanism  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Mulibrey Nanism Syndrome
  • Muscle Liver Brain Eye Nanism
  • Muscle-Liver-Brain-Eye Nanism
  • Nanism, Mulibrey
  • Nanism, Muscle-Liver-Brain-Eye
  • Nanism Syndrome, Mulibrey
  • Perheentupa Syndrome
  • Syndrome, Mulibrey Nanism
  • Syndrome, Perheentupa

Note

  • mulibrey (stands for MUscle, LIver, BRain, EYes): spell in titles & translations with lowercase m

Scope note

  • Growth failure from birth that is due to mutations in a gene (TRIM37) on chromosome 17q22-q23 which encodes a RING-B-box-coiled-coil protein.

History note

  • 2006; use DWARFISM 1998-2005

In other languages

URI

http://www.yso.fi/onto/mesh/D050336

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