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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Oculocerebrorenal Syndrome
... > Urogenital Diseases > Female Urogenital Diseases and Pregnancy Complications > Female Urogenital Diseases > Urologic Diseases > Kidney Diseases > Renal Tubular Transport, Inborn Errors > Oculocerebrorenal Syndrome
... > Urogenital Diseases > Male Urogenital Diseases > Urologic Diseases > Kidney Diseases > Renal Tubular Transport, Inborn Errors > Oculocerebrorenal Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Renal Tubular Transport, Inborn Errors > Oculocerebrorenal Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Renal Tubular Transport, Inborn Errors > Oculocerebrorenal Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Genetic Diseases, X-Linked > Oculocerebrorenal Syndrome
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Oculocerebrorenal Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Oculocerebrorenal Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Oculocerebrorenal Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Oculocerebrorenal Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Amino Acid Transport Disorders, Inborn > Oculocerebrorenal Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Amino Acid Transport Disorders, Inborn > Oculocerebrorenal Syndrome

Käytettävä termi

Oculocerebrorenal Syndrome  

Tyyppi

  • Topical Descriptor

Yläkäsite

Assosiatiiviset käsitteet

Ohjaustermit

  • Cerebro Oculo Renal Syndrome
  • Cerebro-Oculo-Renal Syndrome
  • Cerebrooculorenal Syndrome
  • Dystrophy, Oculocerebrorenal
  • Lowe Bickel Syndrome
  • Lowe-Bickel Syndrome
  • Lowe Disease
  • Lowe Oculocerebrorenal Syndrome
  • Lowe Syndrome
  • Lowe Terrey MacLachlan Syndrome
  • Lowe-Terrey-MacLachlan Syndrome
  • Oculocerebrorenal Dystrophy
  • Oculocerebrorenal Syndrome of Lowe
  • Renal Oculocerebrodystrophy
  • Renal-Oculocerebrodystrophy

Käyttöhuomautus

  • A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)

Huomautus muutoshistoriasta

  • 1991(1977)

Muunkieliset termit

URI

http://www.yso.fi/onto/mesh/D009800

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RDF/XML TURTLE JSON-LD Luotu 19.5.1976, viimeksi muokattu 25.6.2024