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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:Familial Dysalbuminemic Hyperthyroxinemia
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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

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Familial Dysalbuminemic Hyperthyroxinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin severity ISO ClinVar Annotator: match by term: EUTHYROID HYPERTHYROXINEMIA 1 | ClinVar Annotator: match by term: Hyperthyroxinemia, dysalbuminemic | ClinVar Annotator: match by term: Hyperthyroxinemia, familial dysalbuminemic OMIM
RGD
ClinVar		 PMID:683332 PMID:1859851 PMID:1946412 PMID:2104980 PMID:2226433 More... RGD:11035292 NCBI chrNW_004955447:9,327...21,212 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        genetic disease 15939
          Familial Dysalbuminemic Hyperthyroxinemia 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      endocrine system disease 5498
        thyroid gland disease 489
          hyperthyroxinemia 7
            Familial Dysalbuminemic Hyperthyroxinemia 1
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