Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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;   MIM:615999


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: EUTHYROID HYPERTHYROXINEMIA 1 | ClinVar Annotator: match by term: Hyperthyroxinemia, dysalbuminemic | ClinVar Annotator: match by term: Hyperthyroxinemia, familial dysalbuminemic		 CTD
OMIM
ClinVar
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 19065
    Developmental Disease 14582
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13621
        genetic disease 13292
          Familial Dysalbuminemic Hyperthyroxinemia 1
Path 2
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      endocrine system disease 6863
        thyroid gland disease 571
          hyperthyroxinemia 7
            Familial Dysalbuminemic Hyperthyroxinemia 1
paths to the root