Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:Pyruvate Dehydrogenase Phosphatase Deficiency
go back to main search page
Accession:DOID:9005740 term browser browse the term
Synonyms:exact_synonym: Lactic acidemia with pyruvate dehydrogenase phosphatase deficiency;   PDHPD
 primary_id: MESH:C536258;   RDO:0001763
 alt_id: OMIM:608782
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Pyruvate Dehydrogenase Phosphatase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdp1 pyruvate dehyrogenase phosphatase catalytic subunit 1 JBrowse link 5 25,577,593 25,584,325 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15469
    Nutritional and Metabolic Diseases 4381
      disease of metabolism 4381
        acquired metabolic disease 2698
          metabolic acidosis 31
            lactic acidosis 23
              Pyruvate Dehydrogenase Phosphatase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 15469
    Nutritional and Metabolic Diseases 4381
      disease of metabolism 4381
        Acid-Base Imbalance 72
          Acidoses 60
            metabolic acidosis 31
              lactic acidosis 23
                Pyruvate Dehydrogenase Phosphatase Deficiency 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.