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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 ALB albumin susceptibility ISO
IAGP
RGD PMID:1690892 PMID:7937781 RGD:734959, RGD:1599028 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G APOA1 apolipoprotein A1 ISO RGD PMID:2123716 RGD:1599161 NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G B2M beta-2-microglobulin susceptibility IAGP DNA:transversion:exon;913G>C RGD PMID:16549777 RGD:1599429 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
JBrowse link
G GH1 growth hormone 1 treatment IDA associated with Liver Cirrhosis RGD PMID:11986720 RGD:11352738 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839
JBrowse link
G LIPC lipase C, hepatic type ISO protein:reduced expression:plasma (rat) RGD PMID:10844597 RGD:2308785 NCBI chr15:58,431,991...58,569,844
Ensembl chr15:58,410,569...58,569,844
JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO associated with Liver Cirrhosis, Experimental RGD PMID:16169275 RGD:1643028 NCBI chr17:59,893,121...59,950,574
Ensembl chr17:59,893,046...59,950,574
JBrowse link
Analbuminemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin IAGP ClinVar Annotator: match by term: Analbuminemia
ClinVar Annotator: match by term: Analbuminemia Baghdad
ClinVar
OMIM
PMID:3353369 PMID:7937781 PMID:8134387 PMID:9266687 PMID:11781148 More... NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
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 IAGP
EXP
DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)
ClinVar Annotator: match by term: APTX-related condition | ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:
DNA:missense mutation:cds:p.V320G(human)
ClinVar
CTD
OMIM
RGD
PMID:11176957 PMID:11294920 PMID:11586299 PMID:11586300 PMID:12196655 More... RGD:1599207, RGD:10054301, RGD:10054300 NCBI chr 9:32,972,616...33,025,120
Ensembl chr 9:32,886,601...33,025,130
JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase IAGP ClinVar Annotator: match by term: Early-onset cerebellar ataxia with hypoalbuminemia ClinVar PMID:16199547 PMID:20118933 PMID:25728773 PMID:25741868 PMID:28492532 More... NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351
JBrowse link
G SETX senataxin IAGP ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:32488064 NCBI chr 9:132,261,356...132,356,744
Ensembl chr 9:132,261,356...132,354,986
JBrowse link
Hypoalbuminemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2M alpha-2-macroglobulin ISO protein:increased expression:serum RGD PMID:9453001 RGD:10046046 NCBI chr12:9,067,708...9,116,229
Ensembl chr12:9,067,664...9,116,229
JBrowse link
G ALB albumin treatment IDA
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:10337936 PMID:9034259 RGD:11035279 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G GH1 growth hormone 1 treatment IDA associated with Sepsis RGD PMID:10923500 RGD:11352734 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839
JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15044820 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B EXP CTD Direct Evidence: marker/mechanism CTD PMID:15044820 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 121159
    disease of anatomical entity 111930
      hematopoietic system disease 8779
        blood protein disease 1382
          Hypoproteinemia 12
            Hypoalbuminemia + 8
Path 2
Term Annotations click to browse term
  disease 121159
    disease of anatomical entity 111930
      Hemic and Lymphatic Diseases 9645
        hematopoietic system disease 8779
          blood protein disease 1382
            Hypoproteinemia 12
              Hypoalbuminemia + 8
paths to the root