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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:hyperthyroxinemia
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Accession:DOID:2855 term browser browse the term
Definition:A thyroid gland disease that is characterized by elevated thyroxine levels in the blood. (DO)
Synonyms:exact_synonym: Hyperthyroxinemias
 primary_id: MESH:D006981
 xref: EFO:0004127;   NCI:C131850
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
hyperthyroxinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin susceptibility ISO RGD PMID:8048949 RGD:1599027 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Dio1 iodothyronine deiodinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3346351 NCBI chr 5:122,074,285...122,090,983
Ensembl chr 5:122,074,279...122,090,970 		JBrowse link
dystransthyretinemic hyperthyroxinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttr transthyretin ISO ClinVar Annotator: match by term: EUTHRYROIDAL HYPERTHYROXINEMIA 2 | ClinVar Annotator: match by term: Hyperthyroxinemia, dystransthyretinemic
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:192115 PMID:1335038 PMID:1351039 PMID:1353008 PMID:1358785 More... NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008 		JBrowse link
Familial Dysalbuminemic Hyperthyroxinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin severity ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EUTHYROID HYPERTHYROXINEMIA 1 | ClinVar Annotator: match by term: Hyperthyroxinemia, dysalbuminemic | ClinVar Annotator: match by term: Hyperthyroxinemia, familial dysalbuminemic		 CTD
OMIM
ClinVar
RGD		 PMID:683332 PMID:1859851 PMID:1946412 PMID:2104980 PMID:2226433 More... RGD:11035290, RGD:11035292 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thyroid hormone resistance, generalized, autosomal dominant		 OMIM
CTD
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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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
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
ISS		 DNA:missense mutation:exon:p.I276L (human)
ClinVar Annotator: match by term: Generalized resistance to thyroid hormone | ClinVar Annotator: match by term: THRB-related condition | ClinVar Annotator: match by term: Thyroid hormone resistance syndrome
OMIM:188570 | OMIM:274300
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:1324420 PMID:1358935 PMID:1400869 PMID:1548332 PMID:1661299 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      endocrine system disease 6775
        thyroid gland disease 569
          hyperthyroxinemia 7
            Familial Dysalbuminemic Hyperthyroxinemia 1
            Hyperthyroxinemia due to Decreased Peripheral Conversion of T4 0
            Thyroid Hormone Plasma Membrane Transport Defect 0
            dystransthyretinemic hyperthyroxinemia 1
            thyroid hormone resistance syndrome + 4
paths to the root