Anemia, Dyserythropoietic, Congenital
Disease ID: disease_node_1182
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| Dbxref | GARD:2001, MESH:D000742, MIM:224100, NCI:C175991, ORDO:98873, SNOMEDCT_US_2023_03_01:68870007, UMLS_CUI:C1306589 |
|---|---|
| Subclassof | DOID_0050737, DOID_1338 |
| Data Source | DOID, MESH |
| Synonyms | CDA II, CDA type 2, CDA type II, CDAN2, Congenital dyserythropoietic anaemia type 2, Congenital dyserythropoietic anemia type 2, Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas), SEC23B-CDG, congenital dyserythropoietic anaemia type II |
| Mesh Id | D000742 |
| Mesh Label | Anemia, Dyserythropoietic, Congenital |
| Mesh Subclassof | D000745 |
| Doid Label | congenital dyserythropoietic anemia type II |
| Doid Description | A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in the SEC23B gene on chromosome 20p11.23. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_1182 |
| Doid Id | DOID_0111401 |
| Disease Has Basis In | HP_0001197 |
| Label | Anemia, Dyserythropoietic, Congenital |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)