Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
Term ID:
626
Name:
Anemia, Dyserythropoietic, Congenital
Definition:
A familial disorder characterized by ANEMIA with multinuclear ERYTHROBLASTS, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors (ERYTHROID PRECURSOR CELLS). Type II is the most common of the 3 types; it is often referred to as HEMPAS, based on the Hereditary Erythroblast Multinuclearity with Positive Acidified Serum test.
Alternative IDs:
OMIM:105600|OMIM:224100|OMIM:224120|OMIM:613673
ParentIDs:
MESH:D000745
TreeNumbers:
C15.378.071.141.150.095 |C16.320.070.095
Synonyms:
Anemia, Congenital Dyserythropoietic |ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I |ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia |Anemia, Congenital Dyserythropoietic, Type II |ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE III |ANEMIA, CONGENITAL DYSERYTHROPOIE