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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
 primary_id: MESH:D007019


show annotations for term's descendants           Sort by:
Hypoproteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin susceptibility ISO RGD PMID:1690892 PMID:7937781 RGD:734959, RGD:1599028 NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461 		JBrowse link
G Apoa1 apolipoprotein A-I ISO RGD PMID:2123716 RGD:1599161 NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764 		JBrowse link
G B2m beta-2 microglobulin susceptibility ISO RGD PMID:16549777 RGD:1599429 NCBI chr 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564 		JBrowse link
G Gh growth hormone treatment ISO associated with Liver Cirrhosis RGD PMID:11986720 RGD:11352738 NCBI chr11:106,191,087...106,194,529
Ensembl chr11:106,191,097...106,192,691 		JBrowse link
G Lipc lipase, hepatic ISO protein:reduced expression:plasma (rat) RGD PMID:10844597 RGD:2308785 NCBI chr 9:70,705,410...70,859,503
Ensembl chr 9:70,705,410...70,859,508 		JBrowse link
G Rps6kb1 ribosomal protein S6 kinase, polypeptide 1 ISO associated with Liver Cirrhosis, Experimental RGD PMID:16169275 RGD:1643028 NCBI chr11:86,389,695...86,435,711
Ensembl chr11:86,389,697...86,435,631 		JBrowse link
Analbuminemia term browser
Symbol Object Name Qualifiers 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 chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461 		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: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:
DNA:missense mutation:cds:p.V320G(human)
DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)		 OMIM
ClinVar
CTD
RGD		 PMID:11176957 PMID:11294920 PMID:11586299 PMID:11586300 PMID:12196655 More... RGD:10054301, RGD:10054300, RGD:1599207 NCBI chr 4:40,682,078...40,703,206
Ensembl chr 4:40,682,382...40,703,194 		JBrowse link
G Pnkp polynucleotide kinase 3'- phosphatase ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:16199547 PMID:20118933 PMID:24033266 PMID:25728773 PMID:25741868 More... NCBI chr 7:44,505,903...44,514,761
Ensembl chr 7:44,506,563...44,512,416 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:32488064 NCBI chr 2:29,013,600...29,072,483
Ensembl chr 2:29,014,193...29,072,483 		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 chr 6:121,612,920...121,656,197
Ensembl chr 6:121,612,335...121,656,186 		JBrowse link
G Alb albumin treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10337936 PMID:9034259 RGD:11035279 NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461 		JBrowse link
G Gh growth hormone treatment ISO associated with Sepsis RGD PMID:10923500 RGD:11352734 NCBI chr11:106,191,087...106,194,529
Ensembl chr11:106,191,097...106,192,691 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15044820 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Tnfrsf1b tumor necrosis factor receptor superfamily, member 1b ISO CTD Direct Evidence: marker/mechanism CTD PMID:15044820 NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      hematopoietic system disease 3272
        blood protein disease 599
          Hypoproteinemia 12
            Hypoalbuminemia + 8
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      Hemic and Lymphatic Diseases 3775
        hematopoietic system disease 3272
          blood protein disease 599
            Hypoproteinemia 12
              Hypoalbuminemia + 8
paths to the root