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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:Analbuminemia
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Accession:DOID:9000568 term browser browse the term
Definition:A rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin.
Synonyms:exact_synonym: ANALBA
 narrow_synonym: analbuminemia Baghdad;   analbuminemia Roma;   analbuminemia, American Indian type
 primary_id: OMIM:616000
 xref: NCI:C124851


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Analbuminemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO ClinVar Annotator: match by term: Analbuminemia | ClinVar Annotator: match by term: Analbuminemia Baghdad OMIM
ClinVar
PMID:3353369 PMID:7937781 PMID:8134387 PMID:9266687 PMID:11781148 More... NCBI chrNW_004955447:9,327...21,212 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13822
      hematopoietic system disease 2946
        blood protein disease 537
          Hypoproteinemia 11
            Hypoalbuminemia 7
              Analbuminemia 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13822
      Hemic and Lymphatic Diseases 3391
        hematopoietic system disease 2946
          blood protein disease 537
            Hypoproteinemia 11
              Hypoalbuminemia 7
                Analbuminemia 1
paths to the root