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Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Hyaline Fibromatosis Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Hyaline Fibromatosis Syndrome

Preferred term

Hyaline Fibromatosis Syndrome  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Fibromatosis Hyalinica Multiplex Juvenilis
  • Fibromatosis Juvenile Hyaline
  • Fibromatosis, Juvenile Hyaline
  • Hyaline Fibromatosis Juvenile
  • Hyaline Fibromatosis, Juvenile
  • Hyalinoses, Juvenile
  • Hyalinoses, Systemic
  • Hyalinoses, Systemic Juvenile
  • Hyalinosis, Juvenile
  • Hyalinosis, Systemic
  • Hyalinosis, Systemic Juvenile
  • Juvenile Hyaline Fibromatoses
  • Juvenile Hyaline Fibromatosis
  • Juvenile Hyalinoses
  • Juvenile Hyalinoses, Systemic
  • Juvenile Hyalinosis
  • Juvenile Hyalinosis, Systemic
  • Murray Syndrome
  • Puretic Syndrome
  • Puretic Syndromes
  • Syndrome, Murray
  • Syndrome, Puretic
  • Syndromes, Puretic
  • Systemic Hyalinoses
  • Systemic Hyalinosis
  • Systemic Juvenile Hyalinoses
  • Systemic Juvenile Hyalinosis

Note

  • do not confuse entry term INFANTILE SYSTEMIC HYALINOSIS with HYALINE MEMBRANE DISEASE

Scope note

  • Autosomal recessive disorder characterized by HYALINE deposition in the skin, bone, gastrointestinal tract, muscles and glands; multiple subcutaneous skin nodules; GINGIVAL HYPERTROPHY; and joint CONTRACTURES. Mutations in the capillary morphogenesis protein-2 are associated with the disorder.

History note

  • 2011

In other languages

URI

http://www.yso.fi/onto/mesh/D057770

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