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dystransthyretinemic hyperthyroxinemia - Ontology Report - Rat Genome Database

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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:dystransthyretinemic hyperthyroxinemia
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Accession:DOID:0080219 term browser browse the term
Definition:A hyperthyroxinemia that is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals and that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12. (DO)
Synonyms:exact_synonym: DTTRH;   dysprealbuminemic hyperthyroxinemia;   dystransthyretinemic euthyroidal hyperthyroxinemia;   euthryroidal hyperthyroxinemia 2
 primary_id: MESH:C567719
 alt_id: MIM:145680

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dystransthyretinemic hyperthyroxinemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Ttr transthyretin ISO ClinVar Annotator: match by term: EUTHRYROIDAL HYPERTHYROXINEMIA 2 | ClinVar Annotator: match by term: Hyperthyroxinemia, dystransthyretinemic OMIM
ClinVar		 PMID:192115 PMID:1335038 PMID:1351039 PMID:1353008 PMID:1356051 More... NCBI chrNW_004624770:1,255,401...1,262,019
Ensembl chrNW_004624770:1,251,716...1,262,213 		JBrowse link
G G TTR transthyretin ISO ClinVar Annotator: match by term: EUTHRYROIDAL HYPERTHYROXINEMIA 2 | ClinVar Annotator: match by term: Hyperthyroxinemia, dystransthyretinemic OMIM
ClinVar		 PMID:192115 PMID:1335038 PMID:1351039 PMID:1353008 PMID:1356051 More... NCBI chr18:49,124,302...49,131,495
Ensembl chr18:49,124,121...49,131,399 		JBrowse link
G P TTR transthyretin ISO ClinVar Annotator: match by term: EUTHRYROIDAL HYPERTHYROXINEMIA 2 | ClinVar Annotator: match by term: Hyperthyroxinemia, dystransthyretinemic OMIM
ClinVar		 PMID:192115 PMID:1335038 PMID:1351039 PMID:1353008 PMID:1356051 More... NCBI chr 6:115,496,338...115,503,974
Ensembl chr 6:115,496,326...115,503,977 		JBrowse link
G S Ttr transthyretin ISO ClinVar Annotator: match by term: EUTHRYROIDAL HYPERTHYROXINEMIA 2 | ClinVar Annotator: match by term: Hyperthyroxinemia, dystransthyretinemic OMIM
ClinVar		 PMID:192115 PMID:1335038 PMID:1351039 PMID:1353008 PMID:1356051 More... NCBI chrNW_004936682:1,628,489...1,635,495
Ensembl chrNW_004936682:1,628,341...1,635,566 		JBrowse link
G D TTR transthyretin ISO ClinVar Annotator: match by term: EUTHRYROIDAL HYPERTHYROXINEMIA 2 | ClinVar Annotator: match by term: Hyperthyroxinemia, dystransthyretinemic OMIM
ClinVar		 PMID:192115 PMID:1335038 PMID:1351039 PMID:1353008 PMID:1356051 More... NCBI chr 7:57,940,354...57,947,084
Ensembl chr 7:57,914,381...57,947,058 		JBrowse link
G B TTR transthyretin ISO ClinVar Annotator: match by term: EUTHRYROIDAL HYPERTHYROXINEMIA 2 | ClinVar Annotator: match by term: Hyperthyroxinemia, dystransthyretinemic OMIM
ClinVar		 PMID:192115 PMID:1335038 PMID:1351039 PMID:1353008 PMID:1356051 More... NCBI chr18:24,809,707...24,816,713
Ensembl chr18:28,407,893...28,414,960 		JBrowse link
G C Ttr transthyretin ISO ClinVar Annotator: match by term: EUTHRYROIDAL HYPERTHYROXINEMIA 2 | ClinVar Annotator: match by term: Hyperthyroxinemia, dystransthyretinemic OMIM
ClinVar		 PMID:192115 PMID:1335038 PMID:1351039 PMID:1353008 PMID:1356051 More... NCBI chrNW_004955402:18,921,235...18,927,976
Ensembl chrNW_004955402:18,921,274...18,928,108 		JBrowse link
G R 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:1356051 More... NCBI chr18:12,216,684...12,225,972
Ensembl chr18:11,943,789...11,951,008 		JBrowse link
G M 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:1356051 More... NCBI chr18:20,797,266...20,807,383
Ensembl chr18:20,798,337...20,807,378 		JBrowse link
G H TTR transthyretin IAGP
EXP		 ClinVar Annotator: match by term: Hyperthyroxinemia, dystransthyretinemic
ClinVar Annotator: match by term: EUTHRYROIDAL HYPERTHYROXINEMIA 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:192115 PMID:1335038 PMID:1351039 PMID:1353008 PMID:1356051 More... NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      endocrine system disease 80498
        thyroid gland disease 7910
          hyperthyroxinemia 73
            dystransthyretinemic hyperthyroxinemia 10
Path 2
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        genetic disease 151803
          monogenic disease 118451
            autosomal genetic disease 112806
              autosomal dominant disease 157513
                dystransthyretinemic hyperthyroxinemia 10
paths to the root