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
Accession: DOID:11633
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
xref: NCI:C85191
For additional species annotation, visit the
Alliance of Genome Resources .
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
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
G
Thrb
thyroid hormone receptor beta
susceptibility
ISO
DNA:missense mutation:exon:p.I276L (human) ClinVar Annotator: match by term: Generalized resistance to thyroid hormone | ClinVar Annotator: match by term: Thyroid hormone resistance syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:1324420 PMID:1400869 PMID:1548332 PMID:8013151 PMID:8828460 PMID:9349583 PMID:9804773 PMID:10660344 PMID:20808683 PMID:22947347 PMID:25040256 PMID:25741868 PMID:26273722 PMID:26467025 PMID:28235578 PMID:30430796 PMID:30497070 PMID:15913586 More...
RGD:1601659
NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916
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
G
Thrb
thyroid hormone receptor beta
ISO
ClinVar Annotator: match by term: Thyroid hormone resistance, generalized, autosomal dominant
OMIM ClinVar
PMID:1159077 PMID:1314846 PMID:1324420 PMID:1358935 PMID:1400869 PMID:1400873 PMID:1563081 PMID:1587388 PMID:1619012 PMID:1653889 PMID:1661299 PMID:1677564 PMID:1682340 PMID:1846005 PMID:1973914 PMID:1991834 PMID:2153155 PMID:2510172 PMID:2555064 PMID:2879243 PMID:3571851 PMID:7200565 PMID:7528740 PMID:7593433 PMID:7616549 PMID:7833659 PMID:7838159 PMID:8013151 PMID:8040303 PMID:8175986 PMID:8200958 PMID:8319599 PMID:8381821 PMID:8384535 PMID:8496318 PMID:8514853 PMID:8535442 PMID:8563471 PMID:8664910 PMID:8670802 PMID:8674808 PMID:8786093 PMID:8828460 PMID:8875752 PMID:8889584 PMID:8958790 PMID:9001191 PMID:9086567 PMID:9086569 PMID:9092799 PMID:9100577 PMID:9140079 PMID:9141558 PMID:9315673 PMID:9605924 PMID:9707435 PMID:9804773 PMID:10350052 PMID:10487671 PMID:10852467 PMID:10918302 PMID:11167935 PMID:11518118 PMID:11701667 PMID:11704998 PMID:11734632 PMID:12201835 PMID:12356724 PMID:12554782 PMID:15598685 PMID:15771554 PMID:15802373 PMID:15815068 PMID:16099238 PMID:16804041 PMID:17610520 PMID:18363280 PMID:18844476 PMID:19268523 PMID:19378427 PMID:19439650 PMID:20050372 PMID:20237409 PMID:21340159 PMID:21622532 PMID:21703645 PMID:21760978 PMID:21795843 PMID:21871106 PMID:22319036 PMID:22551329 PMID:22947347 PMID:23457315 PMID:23633200 PMID:23926384 PMID:24174637 PMID:24393243 PMID:24722129 PMID:25040256 PMID:25063548 PMID:25135573 PMID:25502991 PMID:25738994 PMID:25741868 PMID:25867808 PMID:25905418 PMID:26041374 PMID:26273722 PMID:26425626 PMID:26467025 PMID:27168936 PMID:27980311 PMID:28235578 PMID:28257829 PMID:28492532 PMID:28938413 PMID:29262478 PMID:30148208 PMID:30430796 PMID:30497070 PMID:30672388 PMID:30707410 PMID:30976996 PMID:31341516 PMID:32581500 PMID:32635414 PMID:33353459 PMID:33768782 PMID:34382419 More...
NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916
G
Thrb
thyroid hormone receptor beta
ISO
ClinVar Annotator: match by term: Thyroid hormone resistance, generalized, autosomal recessive
OMIM ClinVar
PMID:1653889 PMID:1682340 PMID:1991834 PMID:4163616 PMID:8013151 PMID:22319036 PMID:24393243 PMID:25135573 PMID:26467025 More...
NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916
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