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ONTOLOGY REPORT - ANNOTATIONS


Term:thyroid hormone resistance syndrome
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Accession:DOID:11633 term browser browse the term
Definition: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.
Synonyms:exact_synonym: GRTH;   GTHR;   Generalized Thyroid Hormone Resistance;   Refetoff DeWind DeGroot Syndrome;   Refetoff syndrome;   generalized resistance to thyroid hormone;   thyroid hormone resistance;   thyroid hormone responsiveness defect;   thyroid hormone unresponsiveness
 primary_id: MESH:D018382
 alt_id: RDO:0003563
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thyroid hormone resistance syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncoa1 nuclear receptor coactivator 1 JBrowse link 6 28,677,563 28,931,844 RGD:13592920
G Thrb thyroid hormone receptor beta JBrowse link 15 8,890,578 9,239,815 RGD:1601659
RGD:8554872
RGD:11554173
G Trhr thyrotropin releasing hormone receptor JBrowse link 7 83,113,641 83,153,520 RGD:11554173
Generalized Thyroid Hormone Resistance, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Thrb thyroid hormone receptor beta JBrowse link 15 8,890,578 9,239,815 RGD:7240710
RGD:8554872
Generalized Thyroid Hormone Resistance, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Thrb thyroid hormone receptor beta JBrowse link 15 8,890,578 9,239,815 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      thyroid hormone resistance syndrome 3
        Generalized Thyroid Hormone Resistance, Autosomal Dominant 1
        Generalized Thyroid Hormone Resistance, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      endocrine system disease 4646
        thyroid gland disease 308
          hypothyroidism 136
            thyroid hormone resistance syndrome 3
              Generalized Thyroid Hormone Resistance, Autosomal Dominant 1
              Generalized Thyroid Hormone Resistance, Autosomal Recessive 1
paths to the root