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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
 primary_id: MESH:C566305;   MESH:D050010
 alt_id: DOID:9002592;   OMIM:615999;   RDO:0007563;   RDO:0011979
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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

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Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          Familial Dysalbuminemic Hyperthyroxinemia 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      endocrine system disease 4646
        thyroid gland disease 308
          hyperthyroxinemia 6
            Familial Dysalbuminemic Hyperthyroxinemia 1
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