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


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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 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
PMID:683332, PMID:1859851, PMID:1946412, PMID:2104980, PMID:2226433, PMID:2247440, PMID:2304452, PMID:2339130, PMID:2901102, PMID:3338164, PMID:3479777, PMID:3780972, PMID:5926635, PMID:8022807, PMID:8048949, PMID:8064810, PMID:9329347, PMID:9589637, PMID:11743520, PMID:12743361, PMID:15251607, PMID:18029235, PMID:19336879, PMID:22230555, PMID:25741868, PMID:28492532, PMID:29133890, PMID:3129213, PMID:19844712 RGD:11035290, RGD:11035292 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          Familial Dysalbuminemic Hyperthyroxinemia 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      endocrine system disease 4997
        thyroid gland disease 367
          hyperthyroxinemia 7
            Familial Dysalbuminemic Hyperthyroxinemia 1
paths to the root

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