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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 RGD PMID:1690892 PMID:7937781 RGD:1599028 RGD:734959 NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418 		JBrowse link
G APOA1 apolipoprotein A1 ISO RGD PMID:2123716 RGD:1599161 NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122 		JBrowse link
G B2M beta-2-microglobulin susceptibility ISO DNA:transversion:exon;913G>C RGD PMID:16549777 RGD:1599429 NCBI chr15:23,668,108...23,674,791
Ensembl chr15:41,836,345...41,842,991 		JBrowse link
G LIPC lipase C, hepatic type ISO protein:reduced expression:plasma (rat) RGD PMID:10844597 RGD:2308785 NCBI chr15:37,363,507...37,537,723
Ensembl chr15:55,814,017...55,847,005 		JBrowse link
G LOC100971425 somatotropin treatment ISO associated with Liver Cirrhosis RGD PMID:11986720 RGD:11352738 NCBI chr17:58,010,848...58,013,421
Ensembl chr17:63,103,332...63,105,067 		JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO associated with Liver Cirrhosis, Experimental RGD PMID:16169275 RGD:1643028 NCBI chr17:53,958,807...54,014,752
Ensembl chr17:58,799,069...58,853,653 		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 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418 		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 chr 9:32,747,409...32,819,270
Ensembl chr 9:33,556,419...33,585,060 		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 chr19:46,874,216...46,880,954
Ensembl chr19:55,790,048...55,796,762 		JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:32488064 NCBI chr 9:103,381,356...103,474,902
Ensembl chr 9:132,016,767...132,109,665 		JBrowse link
Hypoalbuminemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:9034259 PMID:10337936 RGD:11035279 NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15044820 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G LOC100971425 somatotropin treatment ISO associated with Sepsis RGD PMID:10923500 RGD:11352734 NCBI chr17:58,010,848...58,013,421
Ensembl chr17:63,103,332...63,105,067 		JBrowse link
G LOC100979269 alpha-2-macroglobulin ISO protein:increased expression:serum RGD PMID:9453001 RGD:10046046 NCBI chr12:9,154,457...9,202,833
Ensembl chr12:9,385,359...9,433,979 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15044820 NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15834
    disease of anatomical entity 15490
      hematopoietic system disease 3747
        blood protein disease 677
          Hypoproteinemia 12
            Hypoalbuminemia + 8
Path 2
Term Annotations click to browse term
  disease 15834
    disease of anatomical entity 15490
      Hemic and Lymphatic Diseases 4215
        hematopoietic system disease 3747
          blood protein disease 677
            Hypoproteinemia 12
              Hypoalbuminemia + 8
paths to the root