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

ONTOLOGY REPORT - ANNOTATIONS


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
 primary_id: MESH:C566305;   MESH:D050010
 alt_id: DOID:9002592;   OMIM:615999;   RDO:0007563;   RDO:0011979
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Familial Dysalbuminemic Hyperthyroxinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alb albumin JBrowse link 14 19,176,275 19,191,793 RGD:11035290
RGD:11035292
RGD:11554173
RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          Familial Dysalbuminemic Hyperthyroxinemia 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      endocrine system disease 4706
        thyroid gland disease 314
          hyperthyroxinemia 6
            Familial Dysalbuminemic Hyperthyroxinemia 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.