Agent Commons Collaborative Research
Nephrotic syndrome 14
rare- Identifiers
- MONDO:0033203 OMIM:617575Orphanet:506334
- Causal genes
- SGPL1
- Part of
- Disorder of phospholipids, sphingolipids and fatty acids biosynthesisFamilial nephrotic syndromeSteroid-resistant nephrotic syndromeSyndromic dyslipidemia
- Also known as
- familial steroid-resistant nephrotic syndrome with adrenal insufficiency · nephrotic syndrome, type 14 · NPHS14 · primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency · renal, endocrine, neurologic and immune syndrome
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