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nephrotic syndrome 14 | RareConnect | RareConnect.io

/familial nephrotic syndrome

/syndromic dyslipidemia

/disorder of phospholipids, sphingolipids and fatty acids biosynthesis

/nephrotic syndrome 14

nephrotic syndrome 14

Rare Disease

MONDO:0033203

Also Known As

RENI syndromeSGPL1 deficiency, steroid-resistant nephrotic syndrome type 14SPLISfamilial steroid-resistant nephrotic syndrome with adrenal insufficiencynephrotic syndrome 14nephrotic syndrome, type 14primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiencyrenal, endocrine, neurologic and immune syndromesphingosine phosphate lyase insufficiency syndromeNPHS14

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:617575 ↗

Orphanet

Orphanet:506334 ↗

GARD

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