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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:thyrotoxicosis
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Accession:DOID:7997 term browser browse the term
Definition:A thyroid gland disease that is characterized by excess thyroid hormone. (DO)
Synonyms:exact_synonym: thyrotoxicoses
 primary_id: MESH:D013971
 xref: ICD10CM:E05.9;   ICD9CM:242;   NCI:C61469
For additional species annotation, visit the Alliance of Genome Resources.



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thyrotoxicosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il10 interleukin 10 IEP protein:increased expression:plasma RGD PMID:19343192 RGD:2311054 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b IEP protein:decreased expression:mitochondrion, brain, kidney, liver RGD PMID:6215275 RGD:2298979 NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18941937 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9062474 NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
JBrowse link
Hyperfunctioning Thyroid Adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tshr thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: Thyroid adenoma, hyperfunctioning ClinVar PMID:7800007 PMID:8413627 PMID:9253356 PMID:9360556 PMID:9398746 NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
JBrowse link
Thyrotoxic Periodic Paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1s calcium voltage-gated channel subunit alpha1 S susceptibility ISO ClinVar Annotator: match by term: Thyrotoxic periodic paralysis
ClinVar Annotator: match by term: Thyrotoxic periodic paralysis, susceptibility to, 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:15001631 PMID:28492532 NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318
JBrowse link
G RT1-A1 RT1 class Ia, locus A1 ISO protein:increased expression:peripheral blood cell (human) RGD PMID:1752149 RGD:8655904 NCBI chr20:4,905,309...4,914,593 JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO protein:increased expression:peripheral blood cell (human) RGD PMID:1752149 RGD:8655904 NCBI chr20:3,314,984...3,318,037 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17427
    disease of anatomical entity 16758
      endocrine system disease 5869
        thyroid gland disease 368
          hyperthyroidism 102
            thyrotoxicosis 7
              Hyperfunctioning Thyroid Adenoma 1
              Thyrotoxic Periodic Paralysis 3
              neonatal thyrotoxicosis 0
              thyroid crisis 0
paths to the root