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| Term | RENI syndrome | ID (Ontology) | DOID:0080265 (Human Disease) |
| Definition | A familial nephrotic syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the sphingosine-1-phosphate lyase 1 (SGPL1) gene on chromosome 10q21. | ||
| Also Known As | "nephrotic syndrome type 14" | ||
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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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monogenic disease |__familial nephrotic syndrome__ autosomal genetic disease | |__autosomal recessive disease__| nephrotic syndrome | |__familial nephrotic syndrome__| RENI syndrome 2 rec. |
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| Is a |
autosomal recessive disease familial nephrotic syndrome |
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External Crossreferences & Linkouts
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| MIM:617575 | |||