Rare Disease Library

Reflex epilepsy

Refractory anemia with excess blasts in transformation

RAEB-t

Refractory celiac disease

Refractory CD · Refractory sprue

Refractory cytopenia with multilineage dysplasia

Regional odontodysplasia

Ghost teeth

Regional variant of Guillain-Barré syndrome

Regional variant of GBS

Regressive spondylometaphyseal dysplasia

Reis-Bücklers corneal dystrophy

Corneal dystrophy of Bowman layer type 1 · Granular corneal dystrophy type 3

RELA fusion-positive ependymoma

Supratentorial C11ORF95-RELA fused ependymoma

Relapsing epidemic typhus

Relapsing fever

Relapsing isolated optic neuritis

RION · Isolated relapsing optic neuropathy

Relapsing polychondritis

Polychondropathia

REN-related autosomal dominant tubulointerstitial kidney disease

FJHN type 2 · Familial juvenile hyperuricemic nephropathy type 2

Renal agenesis

Renal agenesis, bilateral

Renal agenesis, unilateral

Renal arteriovenous malformation

rAVM · Arteriovenous malformation of the kidney

Renal caliceal diverticuli-deafness syndrome

Renal caliceal diverticuli-hearing loss syndrome

Renal cell carcinoma

Kidney cancer · RCC

Renal ciliopathy

Renal coloboma syndrome

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

Renal disease with cataract

Renal dysplasia

Kidney dysplasia

Renal dysplasia-megalocystis-sirenomelia syndrome

Selig-Benacerraf-Greene syndrome

Renal dysplasia, bilateral

Kidney dysplasia, bilateral

Renal dysplasia, unilateral

Kidney dysplasia, unilateral

Renal hypoplasia

Renal hypoplasia, bilateral

Renal hypoplasia, unilateral

Renal medullary carcinoma

Renal nutcracker syndrome

Left renal vein entrapment syndrome · RNS

Renal or urinary tract malformation

CAKUT · Congenital anomalies of kidney and urinary tract

Renal pseudohypoaldosteronism type 1

Renal PHA1 · Autosomal dominant pseudohypoaldosteronism type 1

Renal tubular dysgenesis

Primitive renal tubule syndrome · Renotubular dysgenesis

Renal tubular dysgenesis due to twin-twin transfusion

Renal tubular dysgenesis of genetic origin

Renal tubulopathy-encephalopathy-liver failure syndrome

Renal-genital-middle ear anomalies

Renal-hepatic-pancreatic dysplasia

Ivemark II syndrome · Renohepaticopancreatic dysplasia

Renin-angiotensin-aldosterone system-blocker-induced angioedema

ACEI-related acquired angioedema · Acquired angioedema with normal C1INH

Renpenning syndrome

X-linked intellectual disability due to PQBP1 mutations · X-linked intellectual disability, Renpenning type

RERE-related neurodevelopmental syndrome

Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha

Resistance to thyroid hormone due to a mutation in TRa · RTHa

Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta

Resistance to thyroid hormone due to a mutation in TRb · Resistance to thyroid hormone beta

Resistance to thyrotropin-releasing hormone syndrome

Central hypothyroidism due to TRH receptor deficiency · TRH resistance syndrome

Respiratory bronchiolitis-interstitial lung disease syndrome

RB-ILD

Respiratory malformation