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| Term | congenital nonspherocytic hemolytic anemia 7 | ID (Ontology) | DOID:0111681 (Human Disease) |
| Definition | An amino acid metabolic disorder and a congenital nonspherocytic hemolytic anemia that is characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GCLC gene on chromosome 6p12.1. | ||
| Also Known As | "gamma-glutamylcysteine synthetase deficiency" ; "hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency" | ||
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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 recessive disease_________________ congenital hemolytic anemia | |__congenital nonspherocytic hemolytic anemia__| inherited metabolic disorder | |__amino acid metabolic disorder_______________| congenital nonspherocytic hemolytic anemia 7 1 rec. |
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| Is a |
autosomal recessive disease congenital nonspherocytic hemolytic anemia amino acid metabolic disorder |
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External Crossreferences & Linkouts
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MESH:C565557 MIM:230450 ORDO:33574 UMLS_CUI:C1856603 |
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