Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Familial Dysalbuminemic Hyperthyroxinemia
go back to main search page
Accession:DOID:9001986 term browser browse the term
Definition:An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum THYROXINE; (T4) in euthyroid patients with abnormal SERUM ALBUMIN that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and TSH are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the ALB gene on CHROMOSOME 4.
Synonyms:exact_synonym: FDAH;   FDH;   dysalbuminemic hyperthyroxinemia;   euthyroid hyperthyroxinemia 1
 narrow_synonym: dysalbuminemic hypertriiodothyroninemia;   familial dysalbuminemic hypertriiodothyroninemia
 primary_id: MESH:D050010
 alt_id: MESH:C566305;   OMIM:615999
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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: Hyperthyroxinemia, familial dysalbuminemic
ClinVar Annotator: match by term: Hyperthyroxinemia, dysalbuminemic
ClinVar Annotator: match by term: EUTHYROID HYPERTHYROXINEMIA 1
CTD
ClinVar
OMIM
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          Familial Dysalbuminemic Hyperthyroxinemia 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      endocrine system disease 5829
        thyroid gland disease 363
          hyperthyroxinemia 7
            Familial Dysalbuminemic Hyperthyroxinemia 1
paths to the root