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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:Hypoproteinemia
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Accession:DOID:9002513 term browser browse the term
Definition:A condition in which total serum protein level is below the normal range. Hypoproteinemia can be caused by protein malabsorption in the gastrointestinal tract, EDEMA, or PROTEINURIA.
Synonyms:exact_synonym: Hypoproteinemias
 xref: MESH:D007019


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Hypoproteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO RGD PMID:2123716 RGD:1599161 NCBI chrNW_004936542:2,111,055...2,112,626
Ensembl chrNW_004936542:2,111,052...2,112,854
JBrowse link
G B2m beta-2-microglobulin susceptibility ISO DNA:transversion:exon;913G>C RGD PMID:16549777 RGD:1599429 NCBI chrNW_004936471:7,646,504...7,655,656
Ensembl chrNW_004936471:7,646,373...7,655,778
JBrowse link
G Lipc lipase C, hepatic type ISO protein:reduced expression:plasma (rat) RGD PMID:10844597 RGD:2308785 NCBI chrNW_004936471:19,604,083...19,733,721
Ensembl chrNW_004936471:19,703,236...19,733,686
JBrowse link
G LOC101969021 somatotropin treatment ISO associated with Liver Cirrhosis RGD PMID:11986720 RGD:11352738 NCBI chrNW_004936541:4,524,397...4,528,234 JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO associated with Liver Cirrhosis, Experimental RGD PMID:16169275 RGD:1643028 NCBI chrNW_004936490:3,441,046...3,492,917
Ensembl chrNW_004936490:3,441,055...3,492,917
JBrowse link
ataxia with oculomotor apraxia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin susceptibility ISO ClinVar Annotator: match by term: APTX-related condition | ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)
OMIM
ClinVar
RGD
PMID:11176957 PMID:11294920 PMID:11586299 PMID:11586300 PMID:12196655 More... RGD:1599207 NCBI chrNW_004936524:1,569,610...1,582,103
Ensembl chrNW_004936524:1,570,627...1,576,329
JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Early-onset cerebellar ataxia with hypoalbuminemia ClinVar PMID:16199547 PMID:20118933 PMID:25728773 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936664:3,649,020...3,656,545
Ensembl chrNW_004936664:3,649,833...3,656,035
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:32488064 NCBI chrNW_004936487:18,858,384...18,945,253
Ensembl chrNW_004936487:18,855,744...18,944,158
JBrowse link
Hypoalbuminemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15044820 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G LOC101959212 alpha-2-macroglobulin ISO protein:increased expression:serum RGD PMID:9453001 RGD:10046046 NCBI chrNW_004936870:424,832...468,303
Ensembl chrNW_004936870:424,951...468,167
JBrowse link
G LOC101969021 somatotropin treatment ISO associated with Sepsis RGD PMID:10923500 RGD:11352734 NCBI chrNW_004936541:4,524,397...4,528,234 JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15044820 NCBI chrNW_004936474:908,414...935,765
Ensembl chrNW_004936474:908,485...934,177
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14638
    disease of anatomical entity 14327
      hematopoietic system disease 3463
        blood protein disease 638
          Hypoproteinemia 11
            Hypoalbuminemia + 7
Path 2
Term Annotations click to browse term
  disease 14638
    disease of anatomical entity 14327
      Hemic and Lymphatic Diseases 3901
        hematopoietic system disease 3463
          blood protein disease 638
            Hypoproteinemia 11
              Hypoalbuminemia + 7
paths to the root