Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References FTP Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner
Aging & Age-Related Disease Cancer Cardiovascular Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Genetic Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

ONTOLOGY REPORT - ANNOTATIONS
Term:hyperprolinemia type 2
go back to main search page
Accession:DOID:0080543 term browser browse the term
Definition:A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: 1 alpha pyrroline-5-carboxylate dehydrogenase deficiency;   1-pyrroline-5-carboxylate dehydrogenase deficiency;   DEFICIENCY OF PYRROLINE-5-CARBOXYLATE REDUCTASE;   HPII;   HYRPRO2;   hyperprolinemia type II;   pyrroline-5-carboxylate dehydrogenase deficiency
 primary_id: MESH:C538385
 alt_id: DOID:9005634;   OMIM:239510;   RDO:0004361
 xref: ORDO:79101
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
 
hyperprolinemia type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 JBrowse link 5 158,090,238 158,115,725 RGD:7240710
RGD:8554872
RGD:11554173
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    Nutritional and Metabolic Diseases 4365
      disease of metabolism 4365
        inherited metabolic disorder 1858
          amino acid metabolic disorder 328
            hyperprolinemia 3
              hyperprolinemia type 2 1
Path 2
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        genetic disease 6997
          monogenic disease 4558
            autosomal genetic disease 3509
              autosomal recessive disease 1978
                hyperprolinemia type 2 1
paths to the root

Contact Us |  About Us |  License CC BY 4.0 |  Legal Disclaimer |  © Medical College of Wisconsin
NHLBI Logo

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