Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes 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 Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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:congenital nonspherocytic hemolytic anemia 4
go back to main search page
Accession:DOID:0051005 term browser browse the term
Definition:A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHI gene (GPI) on chromosome 19q13. (DO)
Synonyms:exact_synonym: CNSHA4;   DISORDER OF GLYCOLYSIS;   GPI-RELATED CONDITION;   Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency
 narrow_synonym: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, AND NEUROLOGIC DEFICITS, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
 alt_id: DOID:9005912
 xref: MIM:613470;   MONDO:0013275


show annotations for term's descendants           Sort by:
congenital nonspherocytic hemolytic anemia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpi glucose-6-phosphate isomerase ISO ClinVar Annotator: match by term: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 4 | ClinVar Annotator: match by term: GPI-related condition | ClinVar Annotator: match by term: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency OMIM
ClinVar		 PMID:4076245 PMID:7989588 PMID:8499925 PMID:8822952 PMID:8822954 More... NCBI chr 1:95,965,389...95,996,932
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    physical disorder 5206
      congenital hemolytic anemia 365
        congenital nonspherocytic hemolytic anemia 73
          congenital nonspherocytic hemolytic anemia 4 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      Hemic and Lymphatic Diseases 4329
        hematopoietic system disease 3837
          anemia 867
            normocytic anemia 756
              hemolytic anemia 432
                congenital hemolytic anemia 365
                  congenital nonspherocytic hemolytic anemia 73
                    congenital nonspherocytic hemolytic anemia 4 1
paths to the root