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Käsitteen tiedot

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Cockayne Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Dwarfism > Cockayne Syndrome
Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Dwarfism > Cockayne Syndrome
Endocrine System Diseases > Dwarfism > Cockayne Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > DNA Repair-Deficiency Disorders > Cockayne Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Cockayne Syndrome
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Cockayne Syndrome

Käytettävä termi

Cockayne Syndrome  

Tyyppi

  • Topical Descriptor

Yläkäsite

Assosiatiiviset käsitteet

Ohjaustermit

  • Dwarfism-Retinal Atrophy-Deafness Syndrome
  • Progeria Like Syndrome
  • Progeria-Like Syndrome
  • Progeria-Like Syndromes
  • Progeroid Nanism
  • Syndrome, Progeria-Like

Käyttöhuomautus

  • A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.

Huomautus muutoshistoriasta

  • 1991(1981); use DWARFISM 1981-1990

Muunkieliset termit

URI

http://www.yso.fi/onto/mesh/D003057

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RDF/XML TURTLE JSON-LD Luotu 9.5.1980, viimeksi muokattu 11.4.2022