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   new 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

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 dyserythropoietic anemia type I
go back to main search page
Accession:DOID:0111396 term browser browse the term
Definition:A congenital dyserythropoietic anemia characterized by autosomal recessive inheritance of macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. (DO)
Synonyms:exact_synonym: CDA I;   CDA type 1;   CDA type I;   Congenital dyserythropoietic anaemia type 1;   congenital dyserythropoietic anaemia type I;   congenital dyserythropoietic anemia type 1
 xref: GARD:2000;   ORDO:98869


show annotations for term's descendants           Sort by:
congenital dyserythropoietic anemia type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdan1 codanin 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type I ClinVar PMID:9536098 PMID:12434312 PMID:12825070 PMID:16098079 PMID:16141353 More... NCBI chr 3:107,675,147...107,689,811
Ensembl chr 3:107,673,645...107,689,773 		JBrowse link
congenital dyserythropoietic anemia type Ia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdan1 codanin 1 ISO DNA:missense mutations, nonsense mutations:cds:multiple
DNA:mutations:multiple
DNA:missense mutations, frameshift mutations, nonsense mutation:cds:multiple
DNA:missense mutation:cds:p.R1042W (human)
ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE Ia		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:12434312 PMID:16098079 PMID:17576681 PMID:18081704 More... RGD:1600473, RGD:40903075, RGD:40903076, RGD:40903077 NCBI chr 3:107,675,147...107,689,811
Ensembl chr 3:107,673,645...107,689,773 		JBrowse link
congenital dyserythropoietic anemia type Ib term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdin1 CDAN1 interacting nuclease 1 ISO ClinVar Annotator: match by term: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib | ClinVar Annotator: match by term: CDA, TYPE Ib OMIM
ClinVar		 PMID:9220189 PMID:16643456 PMID:23716552 PMID:25741868 PMID:28492532 More... NCBI chr 3:102,441,553...102,646,935
Ensembl chr 3:102,441,704...102,646,682 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      congenital hemolytic anemia 347
        congenital dyserythropoietic anemia 24
          congenital dyserythropoietic anemia type I 2
            congenital dyserythropoietic anemia type Ia 1
            congenital dyserythropoietic anemia type Ib 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Hemic and Lymphatic Diseases 3853
        hematopoietic system disease 3344
          anemia 778
            normocytic anemia 416
              hemolytic anemia 416
                congenital hemolytic anemia 347
                  congenital dyserythropoietic anemia 24
                    congenital dyserythropoietic anemia type I 2
                      congenital dyserythropoietic anemia type Ia 1
                      congenital dyserythropoietic anemia type Ib 1
paths to the root