General Information of Disease (ID: DISO9M7N)

Disease Name Inherited aplastic anemia
Synonyms
hypoplastic anemia - familial; hypoplastic anaemia - familial; congenital hypoplastic anemia; congenital hypoplastic anaemia; congenital aplastic anemia; congenital aplastic anaemia; rare constitutional aplastic anemia; rare constitutional aplastic anaemia; hereditary aplastic anemia; hereditary aplastic anaemia; constitutional aplastic anemia; constitutional aplastic anaemia
Definition
An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia.|In DO this is classified as idiopathic; however, ORDO classifies idiopathic as acquired which leads to an inconsistency
Disease Hierarchy
DISYKSRF: Genetic disease
DISJRSC0: Aplastic anemia
DISO9M7N: Inherited aplastic anemia
Disease Identifiers
MONDO ID
MONDO_0001713
UMLS CUI
C5681331
MedGen ID
1826154
Orphanet ID
68383