HealthSignal
Rare conditions starting with R
Every condition in the NIH Genetic and Rare Diseases Information Center has its own HealthSignal community page, with condition information, stories, research and Signals sign-up.
163 conditions starting with R
- RAB18 deficiency
- Rabies
- Rabson-Mendenhall syndrome
- Radial aplasia-thrombocytopenia syndrome
- Radial defect robin sequence
- Radial deficiency-tibial hypoplasia syndrome
- Radial hemimelia
- Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
- Radiation-induced meningioma
- Radio-renal syndrome
- Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
- Radioulnar synostosis
- Radioulnar synostosis-developmental delay-hypotonia syndrome
- Radioulnar synostosis-microcephaly-scoliosis syndrome
- Rahman syndrome
- Ramon syndrome
- Ramos-Arroyo syndrome
- Rapadilino syndrome
- Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
- Rat-bite fever
- Ravine syndrome
- Reactive arthritis
- Recessive aplasia cutis congenita of limbs
- Recessive dystrophic epidermolysis bullosa
- Recessive dystrophic epidermolysis bullosa inversa
- Recessive dystrophic epidermolysis bullosa-generalized other
- Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
- Recessive mitochondrial ataxia syndrome
- Recombinant 8 syndrome
- Rectal duplication
- Recurrent infections associated with rare immunoglobulin isotypes deficiency
- Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
- Recurrent Neisseria infections due to factor D deficiency
- Recurrent respiratory papillomatosis
- Reducing body myopathy
- Regressive spondylometaphyseal dysplasia
- Reis-Bucklers' corneal dystrophy
- Relapsing fever
- Relapsing polychondritis
- Renal agenesis
- Renal caliceal diverticuli-deafness syndrome
- Renal carnitine transport defect
- Renal cell carcinoma
- Renal coloboma syndrome
- Renal dysplasia
- Renal dysplasia and retinal aplasia
- Renal hypodysplasia/aplasia 1
- Renal hypomagnesemia 2
- Renal hypomagnesemia 5 with ocular involvement
- Renal hypomagnesemia 6
- Renal hypoplasia
- Renal nutcracker syndrome
- Renal osteodystrophy
- Renal pelvis/ureter urothelial carcinoma
- Renal tubular acidosis
- Renal tubular acidosis, distal, 4, with hemolytic anemia
- Renal tubular dysgenesis
- Renal tubulopathy-encephalopathy-liver failure syndrome
- Renal-genital-middle ear anomalies
- Renal-hepatic-pancreatic dysplasia
- Renpenning syndrome
- Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
- Reticular dysgenesis
- Reticulate acropigmentation of Kitamura
- Reticulohistiocytic granuloma
- Retinal arterial tortuosity
- Retinal capillary malformation
- Retinal cone dystrophy 4
- Retinal cone dystrophy type 1
- Retinal degeneration-nanophthalmos-glaucoma syndrome
- Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
- Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
- Retinal macular dystrophy type 2
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
- Retinitis pigmentosa
- Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
- Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome
- Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
- Retinitis punctata albescens
- Retinoblastoma
- Retinohepatoendocrinologic syndrome
- Retinopathy of prematurity
- Retinoschisis of fovea
- Retinoschisis, autosomal dominant
- Rett syndrome
- Reversible cerebral vasoconstriction syndrome
- Revesz syndrome
- Reye syndrome
- Reynolds syndrome
- RFT1-congenital disorder of glycosylation
- Rh deficiency syndrome
- Rhabdoid tumor
- Rhabdoid tumor predisposition syndrome
- Rhabdomyosarcoma
- Rheumatic fever
- Rheumatoid factor-negative juvenile idiopathic arthritis
- Rheumatoid vasculitis
- Rhizomelic chondrodysplasia punctata
- Rhizomelic chondrodysplasia punctata type 1
- Rhizomelic dysplasia, Patterson-Lowry type
- Rhizomelic syndrome, Urbach type
- RHYNS syndrome
- Riboflavin transporter deficiency
- Richards-Rundle syndrome
- Richieri Costa-da Silva syndrome
- Richieri Costa-Pereira syndrome
- Richter syndrome
- Rickets
- Rickettsialpox
- RIDDLE syndrome
- Rieger anomaly
- Rienhoff syndrome
- Rift valley fever
- Right atrial isomerism
- Rigid spine syndrome
- RIN2 syndrome
- Ring chromosome 1
- Ring chromosome 10
- Ring chromosome 11
- Ring chromosome 12
- Ring chromosome 13
- Ring chromosome 14
- Ring chromosome 15
- Ring chromosome 16
- Ring chromosome 17
- Ring chromosome 18
- Ring chromosome 19
- Ring chromosome 2
- Ring chromosome 20 syndrome
- Ring chromosome 21
- Ring chromosome 22
- Ring chromosome 3
- Ring chromosome 4 syndrome
- Ring chromosome 5
- Ring chromosome 6
- Ring chromosome 7
- Ring chromosome 9
- Ring chromosome Y
- Ring dermoid of cornea
- Rippling muscle disease
- Rippling muscle disease 1
- Rippling muscle disease 2
- Ritscher-Schinzel syndrome
- Roberts-SC phocomelia syndrome
- Robin sequence-oligodactyly syndrome
- Robinow syndrome
- Roch-Leri mesosomatous lipomatosis
- Rocky Mountain spotted fever
- Roifman syndrome
- Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
- Rolandic epilepsy-speech dyspraxia syndrome
- Rolland-Debuqois syndrome
- Rombo syndrome
- Rosette-forming glioneuronal tumor
- Rothmund-Thomson syndrome
- Rotor syndrome
- Roussy-Lévy syndrome
- Rubella
- Rubinstein-Taybi syndrome
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
- Russell-Silver syndrome
- Rutland ciliary disorientation syndrome
- Ruvalcaba syndrome
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