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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:7937781 PMID:1690892 RGD:1599028, RGD:734959 NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,891,582...17,911,865 		JBrowse link
G Apoa1 apolipoprotein A1 IDA RGD PMID:2123716 RGD:1599161 NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:55,423,825...55,425,729 		JBrowse link
G B2m beta-2 microglobulin susceptibility ISO RGD PMID:16549777 RGD:1599429 NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:129,549,318...129,555,356 		JBrowse link
G Gh1 growth hormone 1 treatment ISO associated with Liver Cirrhosis RGD PMID:11986720 RGD:11352738 NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,727,884...91,729,859 		JBrowse link
G Lipc lipase C, hepatic type IAGP protein:reduced expression:plasma (rat) RGD PMID:10844597 RGD:2308785 NCBI chr 8:80,390,470...80,516,463
Ensembl chr 8:80,390,471...80,516,285 		JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 IDA associated with Liver Cirrhosis, Experimental RGD PMID:16169275 RGD:1643028 NCBI chr10:71,817,794...71,865,211
Ensembl chr10:71,815,614...71,865,238 		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 chr14:17,891,564...17,907,043
Ensembl chr14:17,891,582...17,911,865 		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
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 5:60,593,338...60,618,946
Ensembl chr 5:60,597,648...60,618,790 		JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like syndrome ClinVar PMID:16199547 PMID:20118933 PMID:25728773 PMID:25741868 PMID:28492532 More... NCBI chr 1:104,476,801...104,483,409
Ensembl chr 1:104,478,088...104,483,408 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:32488064 NCBI chr 3:32,825,771...32,878,740
Ensembl chr 3:32,828,412...32,878,740 		JBrowse link
Hypoalbuminemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin IEP protein:increased expression:serum RGD PMID:9453001 RGD:10046046 NCBI chr 4:156,570,163...156,619,870
Ensembl chr 4:156,569,860...156,619,868 		JBrowse link
G Alb albumin treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10337936 PMID:9034259 RGD:11035279 NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,891,582...17,911,865 		JBrowse link
G Gh1 growth hormone 1 treatment ISO associated with Sepsis RGD PMID:10923500 RGD:11352734 NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,727,884...91,729,859 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15044820 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15044820 NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:162,353,848...162,387,411 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      hematopoietic system disease 1590
        blood protein disease 289
          Hypoproteinemia 13
            Hypoalbuminemia + 9
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      Hemic and Lymphatic Diseases 1951
        hematopoietic system disease 1590
          blood protein disease 289
            Hypoproteinemia 13
              Hypoalbuminemia + 9
paths to the root