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congenital dyserythropoietic anemia type type 1B
Disease Summary
Associated Targets (1)
Tbio
1
Uniprot Description An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, macrocytic anemia and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis. Ultrastructural features include internuclear chromatin bridges connecting some nearly completely separated erythroblasts and an abnormal appearance (spongy or Swiss-cheese appearance) of the heterochromatin in a high proportion of the erythroblasts.
Mondo Term and Equivalent IDs
MONDO:0014285: congenital dyserythropoietic anemia type type 1B
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111397
OMIM:615631
UMLS:C3810185
MONDO:0014285
High level summary of knowledge for a disease, including descriptions and datasource references.