Rare Disease Library

Primary Fanconi renotubular syndrome

Primary Fanconi renal syndrome · DeToni-Debré-Fanconi syndrome

Acrorenal syndrome

Adult-onset Still disease

AOSD · Wissler-Fanconi syndrome

Dent disease

Dent syndrome · Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis

Enamel-renal syndrome

Amelogenesis imperfecta-nephrocalcinosis syndrome

Faciocardiorenal syndrome

Eastman-Bixler syndrome

Fanconi-Bickel syndrome

GSD due to GLUT2 deficiency · Glycogenosis due to GLUT2 deficiency

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

Primrose syndrome

Primary short bowel syndrome

Primary Sjögren disease

Primary Sjögren syndrome · Primary SjD

Primary tethered cord syndrome

Primary tethered spinal cord syndrome

Radio-renal syndrome

Renal coloboma syndrome

Coloboma of optic nerve with renal disease · Papillo-renal syndrome

Renal nutcracker syndrome

Left renal vein entrapment syndrome · RNS

Renal tubular dysgenesis

Primitive renal tubule syndrome · Renotubular dysgenesis

RNU4-2-related autosomal dominant neurodevelopmental disorder

ReNU syndrome

Saldino-Mainzer syndrome

Conorenal syndrome · Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome