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DO Term : congenital dyserythropoietic anemia type Ib [DOID:0111397] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in the C15ORF41 gene on chromosome 15q14.
  • synonyms:
  • OMIM:615631,
  • 615631,
  • CDA, type Ib,
  • SNOMEDCT_US_2023_03_01:59548005,
  • MESH:D000742,
  • UMLS_CUI:C0271933,
  • CDAN1B
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Disease

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Ontology

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