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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:Alkalosis
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Accession:DOID:9007331 term browser browse the term
Definition:A pathological condition that removes acid or adds base to the body fluids.
Synonyms:exact_synonym: Alkaloses
 primary_id: MESH:D000471;   RDO:0004801
For additional species annotation, visit the Alliance of Genome Resources.



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Alkalosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO CTD Direct Evidence: therapeutic CTD PMID:7182184 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) IEP mRNA,protein:decreased expression:kidney: RGD PMID:10600930 RGD:13208945 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
G Slc4a2 solute carrier family 4 member 2 IEP associated with Hypercalcemia;protein:decreased expression:kidney outer medulla inner stripe RGD PMID:17367404 RGD:9999377 NCBI chr 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965
JBrowse link
HUPRA Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sars2 seryl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: HUPRA SYNDROME | ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME
DNA:missense mutation:CDS:p.D390G (human)
OMIM
ClinVar
RGD
PMID:9536098 PMID:17576681 PMID:21255763 PMID:24034276 PMID:25741868 More... RGD:41410777 NCBI chr 1:84,028,972...84,040,725
Ensembl chr 1:84,028,986...84,040,725
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Nutritional and Metabolic Diseases 6730
      disease of metabolism 6730
        Acid-Base Imbalance 94
          Alkalosis 4
            HUPRA Syndrome 1
            Respiratory Alkalosis 0
paths to the root