congenital dyserythropoietic anemia type 1
MONDO:0020337Mondo
Findings
No curated finding names congenital dyserythropoietic anemia type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.
Definition from the Mondo Disease Ontology (MONDO:0020337), read 2026-09-29. CC BY 4.0.
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
3 names
Resolves to: congenital dyserythropoietic anemia type 1
- Also called
- CDA ICDA type 1CDA type I