About: http://www.idref.fr/040829901/id   Goto Sponge  NotDistinct  Permalink

An Entity of Type : skos:Concept, within Data Space : data.idref.fr associated with source document(s)

AttributesValues
type
seeAlso
sameAs
notation
  • C19.874.410.500
alternative label
  • Hormone Resistance, Thyroid
  • Resistance, Thyroid Hormone
  • Syndrome, Refetoff-DeWind-DeGroot
  • Thyroid Hormone Resistance
  • Generalized Resistance to Thyroid Hormone
  • Generalized Thyroid Hormone Resistance
  • Refetoff DeWind DeGroot Syndrome
  • Refetoff Syndrome
  • Syndrome de Refetoff
  • Syndrome de Refetoff-DeWind-DeGroot
  • Syndrome, Refetoff
  • Thyroid Hormone Resistance Syndrome
  • Refetoff-DeWind-DeGroot Syndrome
preferred label
  • Syndrome de résistance aux hormones thyroïdiennes
is in scheme
note
  • An inherited autosomal recessive trait, characterized by peripheral resistance to THYROID HORMONES and the resulting elevation in serum levels of THYROXINE and TRIIODOTHYRONINE. This syndrome is caused by mutations of gene THRB encoding the THYROID HORMONE RECEPTORS BETA in target cells. HYPOTHYROIDISM in these patients is partly overcome by the increased thyroid hormone levels
is seeAlso of
is primary topic of
is Subject of
Faceted Search & Find service v1.13.91 as of Aug 16 2018


Alternative Linked Data Documents: ODE     Content Formats:       RDF       ODATA       Microdata      About   
This material is Open Knowledge   W3C Semantic Web Technology [RDF Data]
OpenLink Virtuoso version 07.20.3229 as of May 14 2019, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (70 GB total memory)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software