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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:Ketosis
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Accession:DOID:9006253 term browser browse the term
Definition:A condition characterized by an abnormally elevated concentration of KETONE BODIES in the blood (acetonemia) or urine (acetonuria). It is a sign of DIABETES COMPLICATION, starvation, alcoholism or a mitochondrial metabolic disturbance (e.g., MAPLE SYRUP URINE DISEASE).
Synonyms:exact_synonym: Acetonemia;   Acetonemias;   Acetonuria;   Acetonurias;   Ketoacidemia;   Ketoacidemias;   Ketoacidoses;   Ketoacidosis;   Ketoaciduria;   Ketoacidurias;   Ketonemia;   Ketonemias;   Ketonuria;   Ketonurias;   Metabolic Ketoacidoses;   Metabolic Ketoacidosis;   Metabolic Ketoses;   Metabolic Ketosis
 primary_id: MESH:D007662;   RDO:0005934


show annotations for term's descendants           Sort by:
Ketosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ins1 insulin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:29420703 NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536 		JBrowse link
G Oplah 5-oxoprolinase (ATP-hydrolysing) ISO ClinVar Annotator: match by term: Ketosis ClinVar PMID:25741868 NCBI chr 7:108,011,472...108,051,751
Ensembl chr 7:108,011,475...108,035,297 		JBrowse link
diabetic ketoacidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp2 aquaporin 2 ISO RGD PMID:12021537 RGD:2314345 NCBI chr 7:130,711,433...130,716,468
Ensembl chr 7:130,711,413...130,716,468 		JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:11430560 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Insr insulin receptor ISO RGD PMID:15254588 RGD:1302526 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
G Pax4 paired box 4 ISO ClinVar Annotator: match by term: Diabetes mellitus, ketosis-prone | ClinVar Annotator: match by term: Diabetes mellitus, ketosis-prone, susceptibility to ClinVar
OMIM		 PMID:9536098 PMID:15509590 PMID:17576681 PMID:18414213 PMID:25741868 More... NCBI chr 4:57,058,453...57,065,995
Ensembl chr 4:57,058,462...57,063,408 		JBrowse link
G Serpina7 serpin family A member 7 ISO protein:decreased expression:serum RGD PMID:6768790 RGD:2312332 NCBI chr  X:102,663,242...102,722,319
Ensembl chr  X:102,663,405...102,669,040 		JBrowse link
Monocarboxylate Transporter 1 Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a1 solute carrier family 16 member 1 ISO ClinVar Annotator: match by term: Monocarboxylate transporter 1 deficiency | ClinVar Annotator: match by term: Monocarboxylate transporter 1 deficiency, autosomal dominant | ClinVar Annotator: match by term: Monocarboxylate transporter 1 deficiency, autosomal recessive
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18414213 PMID:25390740 PMID:25741868 PMID:28492532 NCBI chr 2:192,123,755...192,144,617
Ensembl chr 2:192,124,289...192,144,611 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        Acid-Base Imbalance 150
          Acidoses 139
            Ketosis 8
              Monocarboxylate Transporter 1 Deficiency 1
              diabetic ketoacidosis 5
paths to the root