Additional Disease Briefs

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Use the form below to explore NORD's comprehensive rare disease database. Search for detailed information on rare diseases, including NORD's authoritative Rare Disease Reports and data from other reliable sources.
* = NORD Rare Disease Report

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Rare Disease Database Reports Additional Rare Disease Briefs
nephropathic infantile cystinosis

Also known as: CTNS, cystinosin, defect of, cystinosis, atypical nephropathic, cystinosis, infantile nephropathic, lysosomal cystine transport protein, defect of, nephropathic infantile cystinosis

nephropathy – deafness – hyperparathyroidism syndrome

Also known as: Edwards Patton Dilly syndrome, Edwards-Patton-Dilly syndrome, nephropathy - deafness - hyperparathyroidism, nephropathy, deafness, and hyperparathyroidismEdwards Patton Dilly syndrome, Edwards-Patton-Dilly syndrome, nephropathy - deafness - hyperparathyroidism, nephropathy, deafness, and hyperparathyroidism

nephrotic syndrome 14

Also known as: NPHS14, RENI syndrome, SGPL1 deficiency, steroid-resistant nephrotic syndrome type 14, SPLIS, familial steroid-resistant nephrotic syndrome with adrenal insufficiency, nephrotic syndrome 14, nephrotic syndrome, type 14, primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency, renal, endocrine, neurologic and immune syndrome, sphingosine phosphate lyase insufficiency syndrome

Nestor-Guillermo progeria syndrome

Also known as: BANF1-related neurodevelopmental syndrome, NGPS, Nestor-Guillermo progeria syndrome, PSCOO, progeria syndrome, childhood-onset, with osteolysis

Neu-Laxova syndrome 1

Also known as: 3-Phosphoglycerate dehydrogenase deficiency, neonatal form, 3-phosphoglycerate dehydrogenase deficiency, prenatal form, NLS1, Neu-Laxova syndrome, Neu-Laxova syndrome 1, Neu-Laxova syndrome caused by mutation in PHGDH, Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency, Neu-Laxova syndrome type 1, PHGDH Neu-Laxova syndrome

Neu-Laxova syndrome 2

Also known as: NEU-Laxova syndrome 2, NLS2, Neu-Laxova syndrome 2, Neu-Laxova syndrome caused by mutation in PSAT1, Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency, Neu-Laxova syndrome type 2, PSAT1 Neu-Laxova syndrome, phosphoserine aminotransferase deficiency, prenatal form

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