Inherited aplastic anemia

rare

An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia.

Identifiers: MONDO:0001713 Orphanet:397692 Orphanet:68383
Part of: Aplastic anemia Hereditary disease
Also known as: congenital aplastic anaemia · congenital hypoplastic anaemia · constitutional aplastic anaemia · constitutional aplastic anemia · hereditary aplastic anaemia

Subtypes

Disease	ID	Subtypes	Genes
Diamond-Blackfan anemia	MONDO:0015253	22
Fanconi anemia	MONDO:0019391	22
WT limb-blood syndrome	MONDO:0008688
Autosomal dominant aplasia and myelodysplasia	MONDO:0013851		SRP72
Pancytopenia-developmental delay syndrome	MONDO:0014317		ERCC6L2

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