Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program [R]

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

• Retinitis pigmentosa-deafness syndrome
• Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome - See Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
• Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
• Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome - See Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
• Retinoblastoma
• Retinochoroidal coloboma
• Retinocochleocerebral vasculopathy - See Susac syndrome
• Retinohepatoendocrinologic syndrome
• Retinol Deficiency - See Keratomalacia
• Retinopathy aplastic anemia neurological abnormalities
• Retinopathy of prematurity
• Retinopathy pigmentary mental retardation
• Retinopathy, arteriosclerotic
• Retinopathy, Burgess-Black type - See Autosomal recessive bestrophinopathy
• 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 pain syndrome
• 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
• Rett syndrome variant - See Atypical Rett syndrome
• Reversible Berylliosis - See Beryllium disease
• Reversible cerebral vasoconstriction syndrome
• Reversible cortical blindness - See Anton's syndrome
• Revesz syndrome
• Reye syndrome
• Reye's Syndrome - See Reye syndrome
• Reynolds syndrome
• RFT1-CDG - See RFT1-CDG (CDG-In)
• RFT1-CDG (CDG-In)
• RF-ve CP - See Negative rheumatoid factor polyarthritis
• RGNT - See Rosette-Forming Glioneuronal Tumor
• Rh deficiency syndrome
• Rhabditida Infections
• Rhabdoid sarcoma - See Rhabdoid tumor
• Rhabdoid tumor
• RHABDOID TUMOR PREDISPOSITION SYNDROME 1 - See Rhabdoid tumor
• Rhabdoid tumor predisposition syndrome 2 - See Rhabdoid tumor
• Rhabdomyomatous mesenchymal hamartoma
• Rhabdomyosarcoma alveolar
• Rhabdomyosarcoma embryonal
• Rheumatic chorea - See Sydenham's chorea
• 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
• Rhizomelic chondrodysplasia punctata - See Rhizomelic chondrodysplasia punctata
• Rhizomelic chondrodysplasia punctata type 1
• Rhizomelic chondrodysplasia punctata type 2 - See Rhizomelic chondrodysplasia punctata
• Rhizomelic chondrodysplasia punctata type 3 - See Rhizomelic chondrodysplasia punctata
• Rhizomelic chondrodysplasia punctata, type 3 - See Rhizomelic chondrodysplasia punctata
• 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
• Rh-null syndrome - See Rh deficiency syndrome
• RHOBTB2 missense variants - See Early infantile epileptic encephalopathy-64
• RHOBTB2-related developmental and epileptic encephalopathy - See Early infantile epileptic encephalopathy-64
• RHYNS syndrome
• RIA - See Radiation induced angiosarcoma of the breast
• Rib gap defects with micrognathia - See Cerebro-costo-mandibular syndrome
• Ribbing disease
• Riboflavin transporter deficiency
• Ribonucleic acid polymerase III-related leukodystrophy - See POLR3-Related Leukodystrophy
• Rice-field fever - See Leptospirosis
• Richardson-Kirk syndrome - See Hypoparathyroidism-intellectual disability-dysmorphism syndrome
• Richards-Rundle syndrome
• Richieri Costa Da Silva syndrome
• Richieri Costa Gorlin syndrome - See Oculomaxillofacial dysostosis
• Richieri Costa Pereira syndrome
• Richieri Costa-da Silva syndrome - See Richieri Costa Da Silva syndrome
• Richieri-Costa and Pereira form of acrofacial dysostosis - See Richieri Costa Pereira 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
• RI-CMT - See Autosomal recessive intermediate Charcot-Marie-Tooth disease
• RI-CMT type A - See Autosomal recessive intermediate Charcot-Marie-Tooth disease
• RI-CMT type B - See Autosomal recessive intermediate Charcot-Marie-Tooth disease
• RI-CMTB - See Autosomal recessive intermediate Charcot-Marie-Tooth disease
• RICP - See Intrahepatic cholestasis of pregnancy
• Ridges-off-the-end syndrome - See Nelson syndrome
• Rieger syndrome - See Axenfeld-Rieger syndrome
• Rienhoff syndrome
• 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
• RL syndrome - See Renal dysplasia-limb defects syndrome
• RLS 4 - See Restless legs syndrome
• RLS 5 - See Restless legs syndrome
• RLS1 - See Restless legs syndrome
• RLS2 - See Restless legs syndrome
• RLS3 - See Restless legs syndrome
• RLS6 - See Restless legs syndrome
• 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
• RNAse T2-deficient leukoencephalopathy
• 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
• RNS - See Renal nutcracker syndrome
• 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 syndrome
• Robinow-Silverman-Smith syndrome - See Robinow syndrome
• Robinow-Unger syndrome - See Osteopathia striata cranial sclerosis
• Robinson Miller Bensimon syndrome - See Autosomal dominant deafness-onychodystrophy syndrome
• Robinson-Miller-Bensimon syndrome - See Autosomal dominant deafness-onychodystrophy 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 Congenital vertical talus
• Rocker-bottom foot deformity - See Congenital vertical talus
• 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 - See Nemaline myopathy
• Rod-body myopathy - See Nemaline myopathy
• 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 syndrome - See Mullerian aplasia
• 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 Charcot-Marie-Tooth disease
• Rosenthal factor deficiency - See Factor XI deficiency
• Rosenthal syndrome - See Factor XI deficiency
• Rosenthal-Kloepfer syndrome - See Acromegaloid changes, cutis verticis gyrata and corneal leukoma
• Rosette-Forming Glioneuronal Tumor
• Rossi syndrome - See Arthrogryposis multiplex congenita
• Rothmund-Thomson syndrome
• Rotor syndrome
• Rotor-type hyperbilirubinemia - See Rotor syndrome
• Round face with depressed nasal bridge and small mouth, congenital heart defect, and retarded development - See Sonoda syndrome
• Round-headed sperm syndrome - See Globozoospermia
• 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
• RP 12 - See Retinitis pigmentosa
• RP 13 - See Retinitis pigmentosa
• RP 14 - See Retinitis pigmentosa
• RP 15 - See Retinitis pigmentosa
• RP 17 - See Retinitis pigmentosa
• RP 18 - See Retinitis pigmentosa
• RP 19 - See Retinitis pigmentosa
• RP 2 - See Retinitis pigmentosa
• RP 20 - See Retinitis pigmentosa
• RP 22 - See Retinitis pigmentosa
• RP 23 - See Retinitis pigmentosa
• RP 24 - See Retinitis pigmentosa
• RP 25 - See Retinitis pigmentosa
• RP 26 - See Retinitis pigmentosa
• RP 28 - See Retinitis pigmentosa
• RP 29 - See Retinitis pigmentosa
• RP 30 - See Retinitis pigmentosa
• RP 31 - See Retinitis pigmentosa
• RP 32 - See Retinitis pigmentosa
• RP 33 - See Retinitis pigmentosa
• RP 34 - See Retinitis pigmentosa
• RP 35 - See Retinitis pigmentosa
• RP 36 - See Retinitis pigmentosa
• RP 4 - See Retinitis pigmentosa
• RP 41 - See Retinitis pigmentosa
• RP 6 - See Retinitis pigmentosa
• RP 7 - See Retinitis pigmentosa
• RP 9 - See Retinitis pigmentosa
• RP1 - See Retinitis pigmentosa
• RP21, formerly - See Retinitis pigmentosa-deafness syndrome
• RP3 - See Retinitis pigmentosa
• RP8, formerly - See Retinitis pigmentosa-deafness syndrome
• RRM2B-related mitochondrial DNA depletion syndrome
• RRP - See Recurrent respiratory papillomatosis
• RRS - See Richards-Rundle syndrome
• RS - See Reye syndrome
• RS3PE - See Remitting seronegative symmetrical synovitis with pitting edema
• RSH syndrome - See Smith-Lemli-Opitz syndrome
• 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 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 Autosomal recessive distal renal tubular acidosis
• RTA, gradient type - See Renal tubular acidosis, distal, autosomal dominant
• RTADR - See Autosomal recessive distal renal tubular acidosis
• RTD - See Renal tubular dysgenesis
• RTS - See Rothmund-Thomson syndrome
• 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 - See Familial caudal dysgenesis
• Rudiger syndrome 1 - See EEC syndrome
• Rufous OCA - See Rufous oculocutaneous albinism
• Rufous oculocutaneous albinism
• Rumination disorder
• Rumination syndrome - See Rumination disorder
• RUNX1 FPD/AML - See Familial platelet disorder with associated myeloid malignancy
• Russell diencephalic cachexia - See Diencephalic syndrome
• Russell Silver syndrome - See Russell-Silver syndrome
• Russell syndrome - See Diencephalic syndrome
• Russell Weaver Bull syndrome - See Axial mesodermal dysplasia spectrum
• Russell-Silver syndrome
• Rutherfurd syndrome
• Rutledge lethal multiple congenital anomaly syndrome - See Smith-Lemli-Opitz syndrome
• 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
• RVCL - See Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
• RVCL-S - See Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
• RVCL-S - See Retinal vasculopathy with cerebral leukodystrophy
• Ryukyuan muscular atrophy - See Spinal muscular atrophy Ryukyuan type