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| Term | Fanconi anemia complementation group S | ID (Ontology) | DOID:0060979 (Human Disease) |
| Definition | A Fanconi anemia characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features that has_material_basis_in compound heterozygous or homozygous mutation in the BRCA1 gene on chromosome 17q21. | ||
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| DO.org | |||
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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 hypoplastic anemia | |__Fanconi anemia_______________| Fanconi anemia complementation group S |
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| Is a |
autosomal recessive disease Fanconi anemia |
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External Crossreferences & Linkouts
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| MIM:617883 | |||