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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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;   Refetoff DeWind DeGroot syndrome;   Refetoff syndrome;   generalized resistance to thyroid hormone;   generalized thyroid hormone resistance;   thyroid hormone resistance;   thyroid hormone responsiveness defect;   thyroid hormone unresponsiveness
 primary_id: MESH:D018382
 alt_id: RDO:0003563
 xref: NCI:C85191
For additional species annotation, visit the Alliance of Genome Resources.

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thyroid hormone resistance syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncoa1 nuclear receptor coactivator 1 ISS OMIM:188570 | OMIM:274300 MouseDO NCBI chr 6:27,232,609...27,507,992
Ensembl chr 6:27,232,611...27,475,664 		JBrowse link
G Thra thyroid hormone receptor alpha ISS OMIM:188570 | OMIM:274300 MouseDO NCBI chr10:83,701,885...83,729,408
Ensembl chr10:83,700,755...83,729,936 		JBrowse link
G Thrb thyroid hormone receptor beta susceptibility ISO DNA:missense mutation:exon:p.I276L (human)
ClinVar Annotator: match by term: Generalized thyroid hormone resistance
ClinVar Annotator: match by term: Thyroid hormone resistance syndrome
ClinVar Annotator: match by term: Thyroid Hormone Resistance
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:1324420 PMID:1400869 PMID:1548332 PMID:8013151 PMID:9349583 More... RGD:1601659 NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916 		JBrowse link
G Trhr thyrotropin releasing hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9141550 NCBI chr 7:75,348,672...75,393,310
Ensembl chr 7:75,348,672...75,393,309 		JBrowse link
Generalized Thyroid Hormone Resistance, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thrb thyroid hormone receptor beta ISO ClinVar Annotator: match by OMIM:188570
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Thyroid hormone resistance, generalized, autosomal dominant		 OMIM
ClinVar		 PMID:1159077 PMID:1314846 PMID:1324420 PMID:1358935 PMID:1400869 More... NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916 		JBrowse link
Generalized Thyroid Hormone Resistance, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thrb thyroid hormone receptor beta ISO ClinVar Annotator: match by term: Thyroid hormone resistance, generalized, autosomal recessive
ClinVar Annotator: match by OMIM:274300		 OMIM
ClinVar		 PMID:1653889 PMID:1682340 PMID:1991834 PMID:4163616 PMID:8013151 More... NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      thyroid hormone resistance syndrome 4
        Generalized Thyroid Hormone Resistance, Autosomal Dominant 1
        Generalized Thyroid Hormone Resistance, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      endocrine system disease 5810
        thyroid gland disease 361
          hypothyroidism 154
            thyroid hormone resistance syndrome 4
              Generalized Thyroid Hormone Resistance, Autosomal Dominant 1
              Generalized Thyroid Hormone Resistance, Autosomal Recessive 1
paths to the root