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Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


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Diseases Beginning With R

The purpose of the Rare Diseases and Related Terms list is to distribute information; although the list is updated regularly, it should not be used as a reference or guarantee that a condition is rare. The prevalence of a rare disease is usually an estimate and may change over time. A rare (or orphan) disease is generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States.

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.

* R1 - See Ring chromosome 1
* R10 - See Ring chromosome 10
* R11 - See Ring chromosome 11
* R12 - See Ring chromosome 12
* R13 - See Ring chromosome 13
* R15 - See Ring chromosome 15
* R16 - See Ring chromosome 16
* R17 - See Ring chromosome 17
* R18 - See Ring chromosome 18
* R19 - See Ring chromosome 19
* R2 - See Ring chromosome 2
* R20 - See Ring chromosome 20
* R21 - See Ring chromosome 21
* R22 - See Ring chromosome 22
* R3 - See Ring chromosome 3
* R4 - See Ring chromosome 4
* R5 - See Ring chromosome 5
* R6 - See Ring chromosome 6
* R7 - See Ring chromosome 7
* R8 - See Ring chromosome 8
* R9 - See Ring chromosome 9
* Rabbit fever - See Tularemia
* Rabies
* Rabson-Mendenhall syndrome
* Rachischisis - See Spina bifida
* Radial and patellar aplasia - See Rapadilino syndrome
* Radial and patellar hypoplasia - See Rapadilino syndrome
* Radial aplasia, X-linked - See Radius absent anogenital anomalies
* Radial defect Robin sequence
* Radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema - See Schmitt Gillenwater Kelly syndrome
* Radial hypoplasia, triphalangeal thumbs and hypospadias
* Radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema - See Radial hypoplasia, triphalangeal thumbs and hypospadias
* Radial ray agenesis
* Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia - See IVIC syndrome
* Radial ray hypoplasia and choanal atresia - See Radial ray hypoplasia choanal atresia
* Radial ray hypoplasia choanal atresia
* Radial-ulnar hypoplasia with bone marrow failure and/or leukemia - See WT limb blood syndrome
* Radial-ulnar synostosis - See Congenital radio-ulnar synostosis
* Radiation induced angiosarcoma of the breast
* Radiation induced brachial neuritis - See Radiation induced brachial plexopathy
* Radiation induced brachial plexopathy
* Radiation induced cancer
* Radiation induced malignant melanoma of the cervix - See Primary malignant melanoma of the cervix
* Radiation induced meningioma
* Radiation injury to the brachial plexus - See Radiation induced brachial plexopathy
* Radiation related cancer - See Radiation induced cancer
* Radicular dentin dysplasia - See Dentin dysplasia, type 1
* Radio renal syndrome
* Radio-digito-facial dysplasia
* Radio-renal syndrome - See Radio renal syndrome
* Radioulnar synostosis - See Congenital radio-ulnar synostosis
* Radio-ulnar synostosis - See Congenital radio-ulnar synostosis
* Radioulnar synostosis and a typical rhomboid shape of the tibia and fibula - See Nievergelt syndrome
* Radioulnar synostosis retinal pigment abnormalities
* Radio-ulnar synostosis type 1
* Radio-ulnar synostosis type 2
* Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation
* Radius absent anogenital anomalies
* RAE - See Reactive angioendotheliomatosis
* RAF1 gene related Noonan syndrome - See Noonan syndrome 5
* Ragpicker's disease - See Anthrax
* Raine syndrome
* Rambam-Hasharon syndrome - See Congenital disorder of glycosylation type 2C
* Ramer Ladda syndrome
* Ramon Syndrome
* Ramos Arroyo Clark syndrome
* Ramsay Hunt syndrome type 1 (formerly) - See Dyssynergia cerebellaris myoclonica
* Ramsay Hunt syndrome type 2 (formerly) - See Herpes zoster oticus
* Rapadilino syndrome
* Raphe, supraumbilical midline, with cavernous facial hemangiomas - See Supraumbilical midabdominal raphe and facial cavernous hemangiomas
* Rapidly progressive glomerulonephritis with pulmonary hemorrhage - See Goodpasture syndrome
* Rapid-onset dystonia-parkinsonism - See Dystonia 12
* Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation - See ROHHAD
* Rapp-Hodgkin ectodermal dysplasia syndrome - See Rapp-Hodgkin syndrome
* Rapp-Hodgkin syndrome
* Rare form of Hirschsprung's disease - See Aganglionosis, total intestinal
* RARS - See Sideroblastic anemia pyridoxine-refractory autosomal recessive
* Rasmussen encephalitis
* Rasmussen Johnsen Thomsen syndrome
* Rasmussen syndrome - See Rasmussen Johnsen Thomsen syndrome
* Rat bite fever
* Rathke's pouch tumor - See Craniopharyngioma
* RB - See Retinoblastoma
* RBCD - See Corneal dystrophy of Bowman layer type 1
* RBS - See Roberts syndrome
* RCAD - See Maturity-onset diabetes of the young, type 5
* RCC4 - See Renal cell carcinoma 4
* RCCP - See Papillary renal cell carcinoma
* RCD1 - See Retinal cone dystrophy 1
* RCD2 - See Retinal cone dystrophy 2
* RCD3A - See Retinal cone dystrophy 3A
* RCD3B - See Retinal cone dystrophy 3B
* RCD4 - See Retinal cone dystrophy 4
* RCDP1 - See Rhizomelic chondrodysplasia punctata type 1
* RCDP2 - See Rhizomelic chondrodysplasia punctata type 2
* RCDP3 - See Rhizomelic chondrodysplasia punctata, type 3
* RCL - See Abdominal cystic lymphangioma
* RCRD2 - See Cone-rod dystrophy 2
* RCUD - See Refractory cytopenia with unilineage dysplasia
* RD - See Reticular dysgenesis
* RDC - See Ring dermoid of cornea
* RDD - See Rosai-Dorfman disease
* RDEB, severe generalized - See Severe generalized recessive dystrophic epidermolysis bullosa
* RDEB-sev gen - See Severe generalized recessive dystrophic epidermolysis bullosa
* RDP - See Dystonia 12
* RDPA - See Refsum disease with increased pipecolic acidemia
* RDS - infants - See Respiratory distress syndrome, infant
* RE - See Rasmussen encephalitis
* Reactive angioendotheliomatosis
* Reactive arthritis
* REAR syndrome - See Townes-Brocks syndrome
* Reardon Wilson Cavanagh syndrome
* Reardon-Hall-Slaney syndrome - See Mesomelic dwarfism cleft palate camptodactyly
* Rec8 syndrome - See Recombinant chromosome 8 syndrome
* Recessive acrocephalosyndactyly with normal intelligence - See Summitt syndrome
* Recessive aplasia cutis congenita of the limbs - See Aplasia cutis congenita of limbs recessive
* Recessive developmental delay, small stature, microcephaly and brain calcifications
* Recessive dystrophic epidermolysis bullosa, severe generalized - See Severe generalized recessive dystrophic epidermolysis bullosa
* Recessive microcephaly with spastic quadriplegia - See Microcephaly with spastic quadriplegia
* Recessive pseudoachondroplasia - See Pseudoachondroplastic dysplasia 2
* Recessive spastic paraplegia with retinal degeneration - See Spastic paraplegia 15
* Recklinghausen's disease - See Neurofibromatosis type 1
* Recombinant chromosome 8 syndrome
* Rectal cancer, childhood
* Rectal neoplasm
* Rectosigmoid neoplasm
*   Recurrent episodes of pain, swelling, warmth and stiffness of joints - See Palindromic rheumatism
* Recurrent familial intrahepatic cholestasis 1 - See Benign recurrent intrahepatic cholestasis 1
* Recurrent familial intrahepatic cholestasis 2 - See Benign recurrent intrahepatic cholestasis 2
* Recurrent infection due to specific granule deficiency - See Neutrophil-specific granule deficiency
* Recurrent intrahepatic cholestasis of pregnancy - See Intrahepatic cholestasis of pregnancy
* Recurrent laryngeal papillomatosis (subtype) - See Laryngeal papillomatosis
* Recurrent peripheral facial palsy
* Recurrent polychondritis - See Relapsing polychondritis
* Recurrent polyserositis - See Familial Mediterranean fever
* Recurrent respiratory papillomatosis
* Recurrent Scarring Aphthae - See Sutton disease 2
* Recurrent spontaneous hypothermia with hypoplasia of the corpus callosum - See Shapiro syndrome
* Recurrent trigger thumb (type) - See Trigger thumb
* Red cell aldolase deficiency - See Glycogen storage disease type 12
* Red cell aplasia, pure hereditary - See Diamond-Blackfan anemia
* Red cell phospholipid defect with hemolysis
* Red skin pigment anomaly of New Guinea
* Red skin pigment, New Guinea type - See Red skin pigment anomaly of New Guinea
* Reductional transverse limb defects
* Reed's syndrome - See Hereditary leiomyomatosis and renal cell cancer
* Reese retinal dysplasia
* Refetoff syndrome - See Generalized resistance to thyroid hormone
* Reflex sympathetic dystrophy syndrome - See Complex regional pain syndrome
* Refractory anemia with ringed sideroblasts - See Sideroblastic anemia pyridoxine-refractory autosomal recessive
* Refractory cytopenia with unilineage dysplasia
* Refractory macrocytic anemia due to 5q deletion - See 5q- syndrome
* Refrigeration palsy - See Bell's palsy
* Refsum disease
* Refsum disease with increased pipecolic acidemia
* Refsum disease, infantile form
* Reginato Shiapachasse syndrome
* Regional choroidal atrophy and alopecia - See Moloney syndrome
* Regressive metaphyseal dysplasia - See Metaphyseal anadysplasia
* Reifenstein syndrome, partial - See Partial androgen insensitivity syndrome
* Reis Bucklers corneal dystrophy - See Corneal dystrophy of Bowman layer type 1
* Reis Bucklers dystrophy - See Corneal dystrophy of Bowman layer type 1
* Reiter syndrome - See Reactive arthritis
* Reiter's syndrome - See Reactive arthritis
* Relapsing polychondritis
* Remnant removal disease - See Hyperlipidemia type 3
* Renal adenocarcinoma - See Papillary renal cell carcinoma
* Renal adenocarcinoma - See Kidney cancer
* Renal adysplasia dominant type
* Renal agenesis - See Urogenital adysplasia, hereditary
* Renal agenesis meningomyelocele mullerian defect
* Renal and anogenital malformations with syndactyly - See Green Sandford Davison syndrome
* Renal and craniofacial anomalies with persistence of mullerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly - See Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly
* Renal caliceal diverticuli deafness
* Renal cancer
* Renal carcinoma, familial
* Renal cell cancer - See Kidney cancer
* Renal cell carcinoma 1 - See Kidney cancer
* Renal cell carcinoma 4
* Renal collecting duct carcinoma - See Collecting duct carcinoma
* Renal coloboma syndrome
* Renal cysts and diabetes syndrome - See Maturity-onset diabetes of the young, type 5
* Renal dysplasia diffuse autosomal recessive
* Renal dysplasia diffuse cystic
* Renal dysplasia limb defects syndrome - See Renal dysplasia-limb defects syndrome
* Renal dysplasia megalocystis sirenomelia
* Renal dysplasia or hydronephrosis, oligohydramnios and subsequent lung hypoplasia due to urethral obstruction - See Urethral obstruction sequence
* Renal dysplasia retinal aplasia - See Senior Loken Syndrome
* Renal dysplasia, megalocystis, and sirenomelia - See Selig Benacerraf Greene syndrome
* Renal dysplasia, mesomelia, and radiohumeral fusion - See Renal dysplasia-limb defects syndrome
* Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
* Renal dysplasia-limb defects syndrome
* Renal failure and sensorineural hearing loss - See Autosomal dominant Alport syndrome
* Renal Fanconi syndrome - See Fanconi renotubular syndrome
* Renal genital middle ear anomalies
* Renal glucosuria - See Renal glycosuria
* Renal glycosuria
* Renal hamartomas nephroblastomatosis and fetal gigantism
* Renal histidinuria - See Histidinuria renal tubular defect
* Renal hypouricemia
*   Renal nutcracker syndrome
* Renal oncocytoma
* Renal pelvis and ureter, transitional cell cancer
* Renal PHA1 - See Autosomal dominant pseudohypoaldosteronism type 1
* Renal pseudohypoaldosteronism type 1 - See Autosomal dominant pseudohypoaldosteronism type 1
* Renal rickets
* Renal tubular acidosis
* Renal tubular acidosis 1 - See Renal tubular acidosis, distal, autosomal dominant
* Renal tubular acidosis progressive nerve deafness - See Renal tubular acidosis with progressive nerve deafness
* Renal tubular acidosis type 1b - See Renal tubular acidosis with progressive nerve deafness
* Renal tubular acidosis with deafness - See Renal tubular acidosis with progressive nerve deafness
* Renal tubular acidosis with progressive nerve deafness
* Renal tubular acidosis with progressive nerve deafness - See Renal tubular acidosis with progressive nerve deafness
* Renal tubular acidosis, autosomal recessive with preserved hearing - See Renal tubular acidosis, distal, autosomal recessive
* Renal tubular acidosis, autosomal recessive, with progressive nerve deafness - See Renal tubular acidosis with progressive nerve deafness
* Renal tubular acidosis, distal
* Renal tubular acidosis, distal, autosomal dominant
* Renal tubular acidosis, distal, autosomal recessive
* Renal tubular acidosis, distal, type 3
* Renal tubular acidosis, distal, type 4
* Renal tubular acidosis, distal, with progressive nerve deafness - See Renal tubular acidosis with progressive nerve deafness
* Renal tubular dysgenesis
* Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies - See Lutz Richner Landolt syndrome
* Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA
* Renal-ear-anal-radial syndrome - See Townes-Brocks syndrome
* Renal-retinal syndrome - See Senior Loken Syndrome
* Renier Gabreels Jasper syndrome
* Renoanogenital syndrome
* Renoprival hypertension
* Renpenning syndrome 1
* RENS1 - See Renpenning syndrome 1
* RE-PED-WC - See Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
* Resistance to LH (luteinizing hormone)
* Resistance to thyroid stimulating hormone - See Familial hyperthyroidism due to mutations in TSH receptor
* Respiratory distress syndrome, adult - See Acute respiratory distress syndrome
* Respiratory distress syndrome, infant
* Respiratory papillomatosis, recurrent - See Recurrent respiratory papillomatosis
* Restless legs syndrome, susceptibility to, 1
* Restless legs syndrome, susceptibility to, 2
* Restless legs syndrome, susceptibility to, 3
* Restless legs syndrome, susceptibility to, 4
* Restless legs syndrome, susceptibility to, 5
* Restless legs syndrome, susceptibility to, 6
* Restrictive dermopathy, lethal - See Tight skin contracture syndrome, lethal
* Retarded growth, hydrocephalus, micrognathia, intestinal malrotation, omphalocele, short lower limbs and foot deformities - See Game Friedman Paradice syndrome
* Retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body - See Sitosterolemia
* Reticular dysgenesis
* Reticular pigment anomaly of flexures - See Dowling-Degos disease
* Reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy - See Naegeli syndrome
* Reticulate acropigmentation of Dohi - See Dyschromatosis symmetrica hereditaria 1
* Reticulate acropigmentation of Kitamura - See Dowling-Degos disease
* Reticulate hyperpigmentation of Iijima - See Linear and whorled nevoid hypermelanosis
* Reticuloendotheliosis
* Reticuloendotheliosis familial with eosinophilia - See Omenn syndrome
* Reticuloendotheliosis, X-linked - See Reticuloendotheliosis
* Retinal blindness, congenital - See Leber congenital amaurosis 1
* Retinal cancer - See Retinoblastoma
* Retinal Coloboma - See Retinochoroidal coloboma
* Retinal cone dystrophy 1
* Retinal cone dystrophy 2
* Retinal cone dystrophy 3A
* Retinal cone dystrophy 3B
* Retinal cone dystrophy 4
* Retinal cone-rod dystrophy 2 - See Cone-rod dystrophy 2
* Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma
* Retinal degeneration, autosomal recessive, prominin-related - See Retinitis Pigmentosa 41
* Retinal degeneration, nanophthalmos, glaucoma - See Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma
* Retinal dysplasia X-linked
* Retinal pigment epithelial dystrophy central - See North Carolina macular dystrophy
* Retinal pigmentary degeneration, microcephaly, and severe mental retardation - See Retinopathy pigmentary mental retardation
* Retinal telangiectasia associated with hypogammaglobulinemia - See Frenkel Russe syndrome
* Retinal telangiectasia hypogammaglobulinemia
* Retinal telangiectasis - See Coats disease
* Retinal tumor - See Retinoblastoma
* Retinal vasculopathy with cerebral leukodystrophy
* Retinis pigmentosa deafness hypogenitalism
* Retinitis pigmentosa
* Retinitis pigmentosa 1
* Retinitis Pigmentosa 11
* Retinitis pigmentosa 12
* Retinitis Pigmentosa 13
* Retinitis Pigmentosa 14
* Retinitis Pigmentosa 15
* Retinitis Pigmentosa 17
* Retinitis Pigmentosa 18
* Retinitis Pigmentosa 19
* Retinitis pigmentosa 2, x linked
* Retinitis Pigmentosa 20
* Retinitis pigmentosa 21, formerly - See Retinitis pigmentosa-deafness syndrome
* Retinitis Pigmentosa 22
* Retinitis Pigmentosa 23
* Retinitis Pigmentosa 24
* Retinitis Pigmentosa 25
* Retinitis Pigmentosa 26
* Retinitis Pigmentosa 28
* Retinitis pigmentosa 29
* Retinitis pigmentosa 3
* Retinitis Pigmentosa 30
* Retinitis Pigmentosa 31
* Retinitis Pigmentosa 32
* Retinitis Pigmentosa 33
* Retinitis Pigmentosa 34
* Retinitis Pigmentosa 35
* Retinitis Pigmentosa 36
* Retinitis Pigmentosa 4
* Retinitis Pigmentosa 41
* Retinitis Pigmentosa 6
* Retinitis Pigmentosa 7
* Retinitis pigmentosa 8, formerly - See Retinitis pigmentosa-deafness syndrome
* Retinitis Pigmentosa 9
* Retinitis pigmentosa and congenital deafness - See Usher syndrome, type 1
* Retinitis pigmentosa syndrome - See RHYNS syndrome
* Retinitis pigmentosa, ataxia, and short stature - See Schroer Hammer Mauldin syndrome
* Retinitis pigmentosa, deafness, mental retardation, and hypogonadism
* Retinitis pigmentosa, HYpopituitarism, Nephronophthisis, and mild Skeletal dysplasia - See RHYNS syndrome
* Retinitis pigmentosa-deafness syndrome
* Retinoblastoma
* Retinochoroidal coloboma
* Retinocochleocerebral vasculopathy - See Susac syndrome
* Retinohepatoendocrinologic syndrome
* Retinol Deficiency - See Keratomalacia
* Retinopathey anemia central nervous system anomalies - See Retinopathy anemia CNS anomalies
* Retinopathy anemia CNS anomalies
* Retinopathy aplastic anemia neurological abnormalities
* Retinopathy of prematurity
* Retinopathy pigmentary mental retardation
* Retinopathy, arteriosclerotic
* Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena - See Retinal vasculopathy with cerebral leukodystrophy
* Retinoschisis autosomal dominant
* Retinoschisis juvenile X chromosome-linked - See Juvenile retinoschisis
* Retinoschisis of Fovea
* Retinoschisis with early hemeralopia - See Goldmann-Favre syndrome
* Retinoschisis X-linked - See Juvenile retinoschisis
* Retractile mesenteritis - See Sclerosing mesenteritis
* Retrolental fibroplasia - See Retinopathy of prematurity
* Retrolenticular syndrome - See Central post-stroke pain
* Retroperitoneal cystic lymphangioma - See Abdominal cystic lymphangioma
* Retroperitoneal fibrosis
* Retroperitoneal fibrosis, familial - See Multifocal fibrosclerosis
* Retroperitoneal liposarcoma
* Rett like syndrome - See Atypical Rett syndrome
* Rett syndrome
* Reversible Berylliosis - See Berylliosis
* Reversible cortical blindness - See Anton's syndrome
* Revesz syndrome
* Reye syndrome
* Reye's Syndrome - See Reye syndrome
* Reynolds Neri Hermann syndrome
* Reynolds syndrome
* RFS - See Fanconi renotubular syndrome
* RF-ve CP - See Negative rheumatoid factor polyarthritis
* RGS - See Axenfeld-Rieger syndrome type 1
* Rhabditida Infections
* Rhabdoid sarcoma - See Rhabdoid tumor
* Rhabdoid tumor
* Rhabdomyomatous mesenchymal hamartoma
* Rhabdomyosarcoma alveolar
* Rhabdomyosarcoma embryonal
* Rheumatic Fever
* Rheumatoid arthritis, splenomegaly and neutropenia - See Felty's syndrome
* Rheumatoid factor negative erosive chronic polyarthritis - See Negative rheumatoid factor polyarthritis
* Rheumatoid factor-negative polyarthritis - See Negative rheumatoid factor polyarthritis
* Rheumatoid nodulosis
* Rheumatoid vasculitis
* Rhizomelic chondrodysplasia punctata type 1
* Rhizomelic chondrodysplasia punctata type 2
* Rhizomelic chondrodysplasia punctata, type 3
* Rhizomelic dysplasia Patterson Lowry type
* Rhizomelic dysplasia, familial - See Rhizomelic syndrome
* Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
* Rhizomelic pseudopolyarthritis
* Rhizomelic shortness with clavicular defect - See Cleidorhizomelic syndrome
* Rhizomelic syndrome
* RHS - See Rapp-Hodgkin syndrome
* RHYNS syndrome
* RIA - See Radiation induced angiosarcoma of the breast
* Ribbing disease
* Rice-field fever - See Leptospirosis
* Richards-Rundle syndrome
* Richieri Costa Da Silva syndrome
* Richieri Costa Gorlin syndrome - See Oculomaxillofacial dysostosis
* Richieri Costa Guion Almeida syndrome
* Richieri Costa Orquizas syndrome
* Richieri Costa Pereira syndrome
* Richieri-Costa and Pereira form of acrofacial dysostosis - See Richieri Costa Pereira syndrome
* Richieri-Costa Colletto Otto syndrome
* Richieri-Costa Guion Almeida Rodini syndrome - See Blepharofacioskeletal syndrome
* Richieri-Costa Guion-Almeida Cohen syndrome
* Richner Hanhart syndrome - See Tyrosinemia type 2
* Richter syndrome
* Richter transformation - See Richter syndrome
* Ricker syndrome - See Myotonic dystrophy type 2
* Rickets
* RICP - See Intrahepatic cholestasis of pregnancy
* Ridges-off-the-end syndrome - See Nelson syndrome
* RIEG - See Axenfeld-Rieger syndrome type 1
* RIEG1 - See Axenfeld-Rieger syndrome type 1
* RIEG3 - See Axenfeld-Rieger syndrome type 3
* Rieger syndrome - See Axenfeld-Rieger syndrome
* Rieger syndrome type 1 - See Axenfeld-Rieger syndrome type 1
* Rieger syndrome type 2 - See Axenfeld-Rieger syndrome type 2
* Rieger syndrome type 3 - See Axenfeld-Rieger syndrome type 3
* Right atrium familial dilatation
* Right bundle branch block, ST segment elevation, and sudden death syndrome - See Brugada syndrome
* Right ventricle hypoplasia
* Right ventricular hypoplasia - See Right ventricle hypoplasia
* Rigid spine muscular dystrophy-1 - See Rigid spine syndrome
* Rigid spine syndrome
* Riley Day syndrome - See Familial dysautonomia
* Riley-Smith syndrome - See Bannayan-Riley-Ruvalcaba syndrome
* Rimmed vacuole myopathy - See Inclusion body myopathy 2
* Ring 1 - See Ring chromosome 1
* Ring 10 - See Ring chromosome 10
* Ring 11 - See Ring chromosome 11
* Ring 12 - See Ring chromosome 12
* Ring 13 - See Ring chromosome 13
* Ring 14 - See Ring chromosome 14
* Ring 15 - See Ring chromosome 15
* Ring 16 - See Ring chromosome 16
* Ring 17 - See Ring chromosome 17
* Ring 18 - See Ring chromosome 18
* Ring 19 - See Ring chromosome 19
* Ring 2 - See Ring chromosome 2
* Ring 20 - See Ring chromosome 20
* Ring 21 - See Ring chromosome 21
* Ring 22 - See Ring chromosome 22
* Ring 3 - See Ring chromosome 3
* Ring 4 - See Ring chromosome 4
* Ring 5 - See Ring chromosome 5
* Ring 6 - See Ring chromosome 6
* Ring 7 - See Ring chromosome 7
* Ring 8 - See Ring chromosome 8
* Ring 9 - See Ring chromosome 9
* Ring and little finger syndactyly - See Syndactyly type 3
* Ring chromosome 1
* Ring chromosome 10
* Ring chromosome 11
* Ring chromosome 12
* Ring chromosome 13
* Ring chromosome 14
* Ring chromosome 14 syndrome - See Ring chromosome 14
* Ring chromosome 15
* Ring chromosome 16
* Ring chromosome 17
* Ring chromosome 18
* Ring chromosome 19
* Ring chromosome 2
* Ring chromosome 20
* Ring chromosome 20 syndrome - See Ring chromosome 20
* Ring chromosome 21
* Ring chromosome 22
* Ring chromosome 3
* Ring chromosome 4
* Ring chromosome 5
* Ring chromosome 6
* Ring chromosome 7
* Ring chromosome 8
* Ring chromosome 9
* Ring dermoid of cornea
* Ring dermoid syndrome - See Ring dermoid of cornea
* Ringed hair - See Pili annulati
* Ringed hair disease
* Ripperger Aase syndrome - See Facio skeletal genital syndrome Rippberger type
* Rippling muscle disease
* Rippling muscle disease, 1
* Ritscher Schinzel syndrome - See Dandy-Walker like malformation with atrioventricular septal defect
* Ritscher-Schinzel cranio-cerebello-cardiac syndrome - See Dandy-Walker like malformation with atrioventricular septal defect
* River blindness - See Onchocerciasis
* Rivera Perez Salas syndrome - See Thoraco limb dysplasia Rivera type
* RKH syndrome - See Mayer-Rokitansky-Kuster-Hauser syndrome
* RL syndrome - See Renal dysplasia-limb defects syndrome
* RLS 4 - See Restless legs syndrome, susceptibility to, 4
* RLS 5 - See Restless legs syndrome, susceptibility to, 5
* RLS1 - See Restless legs syndrome, susceptibility to, 1
* RLS2 - See Restless legs syndrome, susceptibility to, 2
* RLS3 - See Restless legs syndrome, susceptibility to, 3
* RLS6 - See Restless legs syndrome, susceptibility to, 6
* RMCH1 (formerly) - See Achromatopsia 3
* RMCH2 - See Achromatopsia 2
* RMD - See Rippling muscle disease
* RMD1 - See Rippling muscle disease, 1
* RMH - See Rhabdomyomatous mesenchymal hamartoma
* RMSF - See Rocky mountain spotted fever
* RMSS - See Bannayan-Riley-Ruvalcaba syndrome
* RNASEH2A-related Aicardi-Goutieres syndrome - See Aicardi-Goutieres syndrome type 4
* RNASEH2B-related Aicardi-Goutieres syndrome - See Aicardi-Goutieres syndrome type 2
* RNASEH2C -related Aicardi-Goutieres syndrome - See Aicardi-Goutieres syndrome type 3
* Roberts syndrome
* Roberts syndrome/SC phocomelia - See Roberts syndrome
* Roberts tetraphocomelia syndrome - See Roberts syndrome
* Roberts-SC phocomelia syndrome - See Roberts syndrome
* Robin sequence and oligodactyly
* Robin sequence with cleft mandible and limb anomalies - See Richieri Costa Pereira syndrome
* Robin sequence with facial and digital anomalies - See Chitayat Meunier Hodgkinson syndrome
* Robinow dwarfism - See Robinow syndrome
* Robinow Sorauf syndrome
* Robinow syndrome
* Robinson Miller Bensimon syndrome
* Robles' disease - See Onchocerciasis
* ROCA - See Rufous oculocutaneous albinism
* Rocher-Sheldon syndrome - See Arthrogryposis multiplex congenita
* Roch-Leri mesosomatous lipomatosis
* Roch-Leri syndrome - See Roch-Leri mesosomatous lipomatosis
* Rock fever - See Brucellosis
* Rocker bottom foot - See Vertical talus, congenital
* Rocker-bottom foot deformity - See Vertical talus, congenital
* Rocky mountain spotted fever
* Rod body disease - See Nemaline myopathy
* Rod monochromacy 1 (formerly) - See Achromatopsia 3
* Rod monochromacy 2 - See Achromatopsia 2
* Rod monochromatism 1 (formerly) - See Achromatopsia 3
* Rod monochromatism 2 - See Achromatopsia 2
* Rod myopathy
* Rod myopathy - See Nemaline myopathy
* Rod-body myopathy - See Nemaline myopathy
* Rod-Cone Dystrophy - See Retinitis pigmentosa
* Rodini Richieri Costa syndrome
* Rodrigues blindness
* Rodriguez lethal acrofacial dysostosis syndrome - See Acrofacial dysostosis Rodriguez type
* Rogers syndrome - See Thiamine responsive megaloblastic anemia syndrome
* ROHHAD
* Roifman syndrome
* Rokitansky sequence
* Rokitansky-Aschoff sinuses - See Rokitansky-Aschoff sinuses of the gallbladder
* Rokitansky-Aschoff sinuses of the gallbladder
* Romano-Ward syndrome - See Long QT syndrome 1
* Romberg hemi-facial atrophy - See Progressive hemifacial atrophy
* Rombo syndrome
* Rommen Mueller Sybert syndrome
* Rootless teeth - See Dentin dysplasia, type 1
* ROP - See Retinopathy of prematurity
* Rosai-Dorfman disease
* Rosaï-Dorfman disease - See Rosai-Dorfman disease
* Rose gardener's disease - See Sporotrichosis
* Rosenberg Lohr syndrome - See Ulna metaphyseal dysplasia syndrome
* Rosenberg-Chutorian syndrome - See X-linked Charcot-Marie-Tooth disease type 5
* Rosenthal syndrome - See Plasma thromboplastin antecedent deficiency
* Rosenthal-Kloepfer syndrome - See Acromegaloid changes, cutis verticis gyrata and corneal leukoma
* Rossi syndrome - See Arthrogryposis multiplex congenita
* Rothmund Thomson syndrome
* Rotor syndrome
* Round face with depressed nasal bridge and small mouth, congenital heart defect, and retarded development - See Sonoda syndrome
* Roussy Levy hereditary areflexic dystasia - See Roussy Levy syndrome
* Roussy Levy syndrome
* Roussy-Levy disease - See Roussy Levy syndrome
* Rowley-Rosenberg syndrome
* Roy Maroteaux Kremp syndrome
* Rozin Hertz Goodman syndrome
* RP - See Retinitis pigmentosa
* RP 11 - See Retinitis Pigmentosa 11
* RP 12 - See Retinitis pigmentosa 12
* RP 13 - See Retinitis Pigmentosa 13
* RP 14 - See Retinitis Pigmentosa 14
* RP 15 - See Retinitis Pigmentosa 15
* RP 17 - See Retinitis Pigmentosa 17
* RP 18 - See Retinitis Pigmentosa 18
* RP 19 - See Retinitis Pigmentosa 19
* RP 2 - See Retinitis pigmentosa 2, x linked
* RP 20 - See Retinitis Pigmentosa 20
* RP 22 - See Retinitis Pigmentosa 22
* RP 23 - See Retinitis Pigmentosa 23
* RP 24 - See Retinitis Pigmentosa 24
* RP 25 - See Retinitis Pigmentosa 25
* RP 26 - See Retinitis Pigmentosa 26
* RP 28 - See Retinitis Pigmentosa 28
* RP 29 - See Retinitis pigmentosa 29
* RP 30 - See Retinitis Pigmentosa 30
* RP 31 - See Retinitis Pigmentosa 31
* RP 32 - See Retinitis Pigmentosa 32
* RP 33 - See Retinitis Pigmentosa 33
* RP 34 - See Retinitis Pigmentosa 34
* RP 35 - See Retinitis Pigmentosa 35
* RP 36 - See Retinitis Pigmentosa 36
* RP 4 - See Retinitis Pigmentosa 4
* RP 41 - See Retinitis Pigmentosa 41
* RP 6 - See Retinitis Pigmentosa 6
* RP 7 - See Retinitis Pigmentosa 7
* RP 9 - See Retinitis Pigmentosa 9
* RP1 - See Retinitis pigmentosa 1
* RP21, formerly - See Retinitis pigmentosa-deafness syndrome
* RP3 - See Retinitis pigmentosa 3
* RP8, formerly - See Retinitis pigmentosa-deafness syndrome
* RRP - See Recurrent respiratory papillomatosis
* RRS - See Richards-Rundle syndrome
* RS - See Reye syndrome
* RSH syndrome - See Smith-Lemli-Opitz syndrome type 1
* RSMD1 - See Rigid spine syndrome
* RSS - See Rigid spine syndrome
* RS-SCID - See Severe combined immunodeficiency with sensitivity to ionizing radiation
* RSTS - See Rubinstein-Taybi syndrome
* RTA with progressive nerve deafness - See Renal tubular acidosis with progressive nerve deafness
* RTA, bicarbonate-wasting type - See Renal tubular acidosis, distal, type 3
* RTA, classic type - See Renal tubular acidosis, distal, autosomal dominant
* RTA, dislocation type - See Renal tubular acidosis, distal, type 3
* RTA, distal type, autosomal dominant - See Renal tubular acidosis, distal, autosomal dominant
* RTA, distal, autosomal recessive - See Renal tubular acidosis, distal, autosomal recessive
* RTA, gradient type - See Renal tubular acidosis, distal, autosomal dominant
* RTADR - See Renal tubular acidosis, distal, autosomal recessive
* RTD - See Renal tubular dysgenesis
* Rubella
* Rubella congenital - See Congenital rubella
* Rubeola - See Measles
* Rubinstein syndrome - See Rubinstein-Taybi syndrome
* Rubinstein Taybi like syndrome
* Rubinstein-Taybi syndrome
* Rud Syndrome
* Rudd Klimek syndrome
* Rudiger syndrome 1 - See EEC syndrome
* Rufous OCA - See Rufous oculocutaneous albinism
* Rufous oculocutaneous albinism
* Rumination disorder
* Russell Weaver Bull syndrome - See Axial mesodermal dysplasia spectrum
* Russell-Silver syndrome
* Rutherfurd syndrome
* Rutledge Friedman Harrod syndrome - See Smith-Lemli-Opitz syndrome type 2
* Rutledge lethal multiple congenital anomaly syndrome - See Smith-Lemli-Opitz syndrome type 2
* Ruvalcaba Churesigaew Myhre syndrome
* Ruvalcaba -Myhre-Smith syndrome - See Bannayan-Riley-Ruvalcaba syndrome
* Ruvalcaba syndrome
* Ruzicka Goerz Anton syndrome
* RVCL - See Retinal vasculopathy with cerebral leukodystrophy
* Ryukyuan muscular atrophy - See Spinal muscular atrophy Ryukyuan type