Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program R/2

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





R/2



Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly.Read more about which diseases are included on the GARD website.

• Retinitis pigmentosa 8, formerly - See Retinitis pigmentosa-deafness syndrome
• Retinitis Pigmentosa 9 - See Retinitis pigmentosa
• Retinitis pigmentosa and congenital deafness - See Usher syndrome, type 1
• Retinitis pigmentosa syndrome - See RHYNS syndrome
• Retinitis pigmentosa, HYpopituitarism, Nephronophthisis, and mild Skeletal dysplasia - See RHYNS syndrome
• 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
• 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, 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 Neri Hermann 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 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 - See Rhizomelic chondrodysplasia punctata
• 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-related developmental and epileptic encephalopathy - See Early infantile epileptic encephalopathy-64
• RHS - See Rapp-Hodgkin syndrome
• 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 Orquizas syndrome
• 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 Colletto Otto 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-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
• 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 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 - SeeSonoda 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 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
• 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
• Rudd-Klimek syndrome - See Sacral defect with anterior meningocele
• 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 Retinal vasculopathy with cerebral leukodystrophy
• RVCL-S - See Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
• Ryukyuan muscular atrophy - See Spinal muscular atrophy Ryukyuan type