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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:Thyroxine-Binding Globulin Deficiency
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Accession:DOID:9005007 term browser browse the term
Synonyms:narrow_synonym: THYROXINE-BINDING GLOBULIN DEFICIENCY, COMPLETE;   THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL
 primary_id: MESH:C564049
 alt_id: RDO:0013142
For additional species annotation, visit the Alliance of Genome Resources.


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Thyroxine-Binding Globulin Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpina7 serpin family A member 7 ISO ClinVar Annotator: match by term: Thyroxine-binding globulin deficiency, partial ClinVar PMID:1901689, PMID:2155256, PMID:2495303, PMID:3102557, PMID:25741868, PMID:28492532 NCBI chr  X:110,226,565...110,232,202
Ensembl chr  X:110,226,572...110,232,179
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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
          monogenic disease 5714
            X-linked monogenic disease 923
              Thyroxine-Binding Globulin Deficiency 1
                Inherited Thyroxine-Binding Globulin Deficiency 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.