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| Term | congenital dyserythropoietic anemia type IVa | ID (Ontology) | DOID:0111400 (Human Disease) |
| Definition | A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in the KLF1 gene on chromosome 19p13.13. | ||
| Also Known As | "CDA due to KLF1 mutation" ; "CDA IV" ; "CDA type 4" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease___________ congenital hemolytic anemia | |__congenital dyserythropoietic anemia__| congenital dyserythropoietic anemia type IVa 2 rec. |
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| Is a |
autosomal dominant disease congenital dyserythropoietic anemia |
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External Crossreferences & Linkouts
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MIM:613673 NCI:C157148 ORDO:293825 SNOMEDCT_US_2023_03_01:719453009 UMLS_CUI:C3150926 |
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