Disease Name Symbol Acronym
Rabies RBS001 LYSSA
Rabson-Mendenhall Syndrome RBS003
Rad21-Related Cornelia De Lange Syndrome RD2001
Rad51c-Related Familial Susceptibility to Breast-Ovarian Cancer RD5001
Rad51c-Related Fanconi Anemia RD5002
Rad51d-Related Familial Susceptibility to Breast-Ovarian Cancer RD5003
Radial Hemimelia, Bilateral RDL017
Radial Hemimelia, Unilateral RDL018
Radial Ray Deficiency RDL005
Radiation Induced Meningioma RDT006 MNRI
Radiation Proctitis RDT013
Radiation Sensitivity/chromosome Instability Syndrome, Autosomal Dominant RDT007
Radiculopathy RDC002
Radioulnar Synostosis RDL002
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia RDL006
Raf1-Related Leopard Syndrome RF1001
Raf1-Related Noonan Syndrome RF1002
Ragweed Sensitivity RGW001
Raine Syndrome RNS001
Rajab Syndrome RJB001
Rapadilino Syndrome RPD002
Rapid Progression to Aids from Hiv1 Infection RPD004
Rapid-Onset Dystonia-Parkinsonism RPD003 RDP
Rapidly Progressive Glomerulonephritis RPD001 RPGN
Rapp-Hodgkin Syndrome RPP001 RHS
Rapsn-Related Congenital Myasthenic Syndrome RPS001
Rapsn-Related Fetal Akinesia Deformation Sequence RPS002
Ras-Associated Autoimmune Leukoproliferative Disease RSS008 RALD
Rasa1-Related Disorders RS1001
Rasmussen Encephalitis RSM001 RE
Rax-Related Anophthalmia/microphthalmia RXR001
Raynaud Disease RYN001
Rbm20-Related Dilated Cardiomyopathy RBM001
Rbp3-Related Retinitis Pigmentosa RBP001
Rd3-Related Leber Congenital Amaurosis RD3001
Rdh12-Related Leber Congenital Amaurosis RDH001
Rdh12-Related Retinitis Pigmentosa RDH002
Rdh5-Related Fundus Albipunctatus RDH003
Reactive Arthritis RCT015 PIRA
Recessive Dystrophic Epidermolysis Bullosa RCS002
Recessive Dystrophic Epidermolysis Bullosa, Generalized, Other RCS003
Recessive Intellectual Disability - Motor Dysfunction - Multiple Joint Contractures RCS004 IDMDC
Recombination Rate Qtl 1 RCM005
Recql4-Related Disorders RCQ001
Rectal Neoplasm RCT018
Rectal Prolapse RCT011
Rectum Adenocarcinoma RCT020
Recurrent Acute Pancreatitis RCR022
Recurrent Corneal Erosion RCR001
Recurrent Hypersomnia RCR002
Recurrent Infections Associated with Rare Immunoglobulin Isotypes Deficiency RCR021
Recurrent Respiratory Papillomatosis RCR004 RRP
Red Color Blindness RDC001
Red-Green Color Vision Defects RDG002
Reducing Body Myopathy RDC010
Reflex Epilepsy RFL002
Reflex Sympathetic Dystrophy RFL001
Refractive Error RFR003
Refractory Anemia RFR010
Refractory Anemia with Excess Blasts RFR008
Refractory Anemia with Excess Blasts in Transformation RFR007
Refractory Celiac Disease RFR013
Refractory Cytopenia with Multilineage Dysplasia RFR009
Refsum Disease RFS001 ARD
Refsum Disease, Adult, with Increased Pipecolicacidemia RFS005
Regional Odontodysplasia RGN005
Regular Astigmatism RGL001
Relapsing Fever RLP003
Relapsing Polychondritis RLP001
Relapsing-Remitting Multiple Sclerosis RLP002 RRMS
Rem Sleep Behavior Disorder RMS001
Ren-Related Kidney Disease RNR002
Renal Adenoma RNL013
Renal Agenesis RNL002 BRA
Renal Artery Disease RNL097
Renal Artery Obstruction RNL001
Renal Carcinoma, Chromophobe, Somatic RNL061
Renal Cell Carcinoma RNL014 RCC
Renal Cell Carcinoma 4 RNL034 RCC4
Renal Cell Carcinoma, Clear Cell, Somatic RNL068
Renal Cell Carcinoma, Papillary, 1 RNL065
Renal Cell Carcinoma, Papillary, 1, Familial and Somatic RNL093
Renal Cell Carcinoma, Somatic RNL064
Renal Clear Cell Carcinoma RNL003 CCRCC
Renal Coloboma Syndrome RNL029 RCS
Renal Dysplasia RNL078
Renal Dysplasia, Cystic RNL094
Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia and Skeletal Dysplasia RNL038 MZSDS
Renal Fibrosis RNL077
Renal Glycosuria RNL006
Renal Hamartomas Nephroblastomatosis and Fetal Gigantism RNL041
Renal Hypertension RNL015
Renal Hypodysplasia, Nonsyndromic, 1 RNL062
Renal Hypodysplasia/aplasia 1 RNL100
Renal Hypodysplasia/aplasia 2 RNL099
Renal Hypomagnesemia 4 RNL087
Renal Hypoplasia RNL025
Renal Hypoplasia, Isolated RNL060
Renal Hypouricemia RNL042
Renal Hypouricemia 1 RNL052
Renal Hypouricemia 2 RNL053
Renal Oncocytoma RNL017
Renal Osteodystrophy RNL011
Renal Pelvis Carcinoma RNL018
Renal Tuberculosis RNL012
Renal Tubular Acidosis RNL007
Renal Tubular Acidosis with Progressive Nerve Deafness RNL098
Renal Tubular Acidosis, Distal RNL045
Renal Tubular Acidosis, Distal, Ad RNL066 DRTA
Renal Tubular Acidosis, Distal, Ar RNL067
Renal Tubular Acidosis, Distal, Autosomal Dominant RNL046
Renal Tubular Acidosis, Distal, Autosomal Recessive RNL047 RTADR
Renal Tubular Acidosis, Distal, with Hemolytic Anemia RNL054
Renal Tubular Dysgenesis RNL028 RTD
Renal Tubular Dysgenesis, Ace-Related RNL055
Renal Tubular Dysgenesis, Agt-Related RNL057
Renal Tubular Dysgenesis, Agtr1-Related RNL056
Renal Tubular Dysgenesis, Ren-Related RNL058
Renal-Hepatic-Pancreatic Dysplasia RNL059
Renal-Hepatic-Pancreatic Dysplasia 1 RNL092
Renal-Hepatic-Pancreatic Dysplasia 2 RNL095
Renovascular Hypertension RNV001
Renpenning Syndrome RNP001
Renpenning Syndrome 1 RNP003 MRXS3
Resistance to Thyrotropin-Releasing Hormone Syndrome RSS007
Respiratory Failure RSP003
Restless Legs Syndrome RST001 RLS
Restless Legs Syndrome 7 RST016
Restless Legs Syndrome 8 RST019
Restless Legs Syndrome, Susceptibility to, 1 RST004 RLS1
Restless Legs Syndrome, Susceptibility to, 2 RST005 RLS2
Restless Legs Syndrome, Susceptibility to, 3 RST006 RLS3
Restless Legs Syndrome, Susceptibility to, 4 RST007 RLS 4
Restless Legs Syndrome, Susceptibility to, 5 RST008 RLS 5
Restless Legs Syndrome, Susceptibility to, 6 RST009 RLS6
Restrictive Cardiomyopathy RST002
Ret-Related Hirschsprung Disease RTR014
Ret-Related Pheochromocytoma RTR015
Ret-Related Renal Adysplasia RTR016
Reticular Dysgenesis RTC002 RD
Reticular Perineurioma RTC007
Reticulosarcoma RTC005
Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis RTN145 FRAM
Retinal Artery Occlusion RTN014
Retinal Cavernous Hemangioma RTN127
Retinal Cone Dystrophy 1 RTN032 RCD1
Retinal Cone Dystrophy 3 RTN084
Retinal Cone Dystrophy 3a RTN034
Retinal Cone Dystrophy 3b RTN035
Retinal Cone Dystrophy 4 RTN036 RCD4
Retinal Degeneration RTN016
Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type RTN100
Retinal Degeneration, Late-Onset, Autosomal Dominant RTN087 LORD
Retinal Detachment RTN017
Retinal Disease RTN018
Retinal Disease in Usher Syndrome Type Iia, Modifier of RTN155
Retinal Drusen RTN006
Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Anomalies RTN168
Retinal Dystrophy, Early-Onset, and Pituitary Dysfunction RTN139
Retinal Dystrophy, Early-Onset, Severe RTN079
Retinal Hemangioblastoma RTN013
Retinal Ischemia RTN003
Retinal Nonattachment, Nonsyndromic Congenital RTN105
Retinal Perforation RTN002
Retinal Telangiectasia RTN019
Retinal Vascular Disease RTN020
Retinal Vascular Occlusion RTN021
Retinal Vasculitis RTN001
Retinal Vasculopathy with Cerebral Leukodystrophy RTN138 CRV
Retinal Vein Occlusion RTN022
Retinitis RTN023
Retinitis Pigmentosa RTN008 RP
Retinitis Pigmentosa 10 RTN150
Retinitis Pigmentosa 11 RTN041 RP 11
Retinitis Pigmentosa 12 RTN042 RP 12
Retinitis Pigmentosa 13 RTN043 RP 13
Retinitis Pigmentosa 14 RTN044 RP 14
Retinitis Pigmentosa 15 RTN045 RP 15
Retinitis Pigmentosa 17 RTN046 RP 17
Retinitis Pigmentosa 18 RTN047 RP 18
Retinitis Pigmentosa 19 RTN048 RP 19
Retinitis Pigmentosa 2 RTN162
Retinitis Pigmentosa 20 RTN050 RP 20
Retinitis Pigmentosa 22 RTN051 RP 22
Retinitis Pigmentosa 23 RTN052 RP 23
Retinitis Pigmentosa 24 RTN053 RP 24
Retinitis Pigmentosa 25 RTN054 RP 25
Retinitis Pigmentosa 26 RTN055 RP 26
Retinitis Pigmentosa 27 RTN131
Retinitis Pigmentosa 28 RTN056 RP 28
Retinitis Pigmentosa 29 RTN057 RP 29
Retinitis Pigmentosa 3 RTN058 RP3
Retinitis Pigmentosa 30 RTN059 RP 30
Retinitis Pigmentosa 31 RTN060 RP 31
Retinitis Pigmentosa 32 RTN061 RP 32
Retinitis Pigmentosa 33 RTN062 RP 33
Retinitis Pigmentosa 34 RTN063 RP 34
Retinitis Pigmentosa 35 RTN064 RP 35
Retinitis Pigmentosa 36 RTN065 RP 36
Retinitis Pigmentosa 37 RTN157
Retinitis Pigmentosa 38 RTN142
Retinitis Pigmentosa 39 RTN141
Retinitis Pigmentosa 4 RTN066 RP 4
Retinitis Pigmentosa 4, Autosomal Dominant or Recessive RTN092
Retinitis Pigmentosa 41 RTN067 RP 41
Retinitis Pigmentosa 42 RTN149
Retinitis Pigmentosa 43 RTN133
Retinitis Pigmentosa 44 RTN136
Retinitis Pigmentosa 45 RTN159
Retinitis Pigmentosa 46 RTN130
Retinitis Pigmentosa 47 RTN143
Retinitis Pigmentosa 48 RTN147
Retinitis Pigmentosa 49 RTN129
Retinitis Pigmentosa 51 RTN106
Retinitis Pigmentosa 54 RTN085
Retinitis Pigmentosa 55 RTN090
Retinitis Pigmentosa 56 RTN116
Retinitis Pigmentosa 57 RTN117
Retinitis Pigmentosa 58 RTN114
Retinitis Pigmentosa 6 RTN068 RP 6
Retinitis Pigmentosa 60 RTN160
Retinitis Pigmentosa 61 RTN144
Retinitis Pigmentosa 62 RTN146
Retinitis Pigmentosa 63 RTN148
Retinitis Pigmentosa 64 RTN151
Retinitis Pigmentosa 65 RTN153
Retinitis Pigmentosa 66 RTN152
Retinitis Pigmentosa 67 RTN140
Retinitis Pigmentosa 68 RTN165
Retinitis Pigmentosa 69 RTN166
Retinitis Pigmentosa 7 RTN069 RP 7
Retinitis Pigmentosa 7, Digenic RTN156
Retinitis Pigmentosa 9 RTN070 RP 9
Retinitis Pigmentosa Autosomal Recessive RTN164
Retinitis Pigmentosa with or Without Situs Inversus RTN158
Retinitis Pigmentosa-12, Autosomal Recessive RTN096
Retinitis Pigmentosa-40 RTN083
Retinitis Pigmentosa-50 RTN088
Retinitis Pigmentosa, Autosomal Recessive, Bothnia Type RTN081
Retinitis Pigmentosa, Concentric RTN089
Retinitis Pigmentosa, Digenic RTN110
Retinitis Pigmentosa, Juvenile RTN091
Retinitis Pigmentosa, Juvenile, Autosomal Recessive RTN095
Retinitis Pigmentosa, X-Linked Recessive, 6 RTN161
Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness RTN104
Retinitis Pigmentosa, Y-Linked RTN102
Retinoblastoma RTN024 RB
Retinol Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome RTN154
Retinopathy of Prematurity RTN012 ROP
Retinoschisis RTN025 XLRS
Retrograde Amnesia RTR001
Retroperitoneal Fibrosis RTR011
Retroperitoneal Leiomyosarcoma RTR007
Retroperitoneal Liposarcoma RTR012
Retroperitoneal Sarcoma RTR010
Rett Syndrome RTT002 RTS
Rett Syndrome, Congenital Variant RTT008
Rett Syndrome, Preserved Speech Variant RTT007
Reunion Island's Larsen Syndrome RNN004
Reversible Cerebral Vasoconstriction Syndrome RVR002 RCVS
Reye Syndrome RYS001 RS
Reynolds Syndrome RYN003
Rgr-Related Retinitis Pigmentosa RGR001
Rh Isoimmunization RHS001
Rh-Mod Syndrome RHM012
Rh-Null Disease, Amorph Type RHN006
Rhabdoid Cancer RHB001
Rhabdoid Meningioma RHB002
Rhabdoid Predisposition Syndrome 1 RHB012
Rhabdoid Tumor RHB017
Rhabdoid Tumor Predisposition Syndrome 1 RHB008
Rhabdoid Tumor Predisposition Syndrome 2 RHB011
Rhabdoid Tumors, Somatic RHB022 ATRT
Rhabdomyolysis, Cerivastatin-Induced RHB010
Rhabdomyosarcoma RHB003
Rhabdomyosarcoma 2, Alveolar RHB009
Rhabdomyosarcoma, Embryonal, 2 RHB021
Rheumatic Disease RHM027
Rheumatic Fever RHM001
Rheumatic Heart Disease RHM028
Rheumatic Myocarditis RHM008
Rheumatoid Arthritis RHM011 RA
Rheumatoid Arthritis, Progression of RHM020
Rheumatoid Nodulosis RHM013
Rheumatoid Vasculitis RHM014
Rhinitis RHN004
Rhinoscleroma RHN002
Rhinotracheitis RHN001
Rhizomelic Chondrodysplasia Punctata RHZ001 RCP
Rhizomelic Chondrodysplasia Punctata Type 1 RHZ002 CDPR
Rhizomelic Chondrodysplasia Punctata Type 2 RHZ003 RCDP2
Rhizomelic Chondrodysplasia Punctata, Type 3 RHZ004 RCDP3
Rhizomelic Pseudopolyarthritis RHZ007
Rho-Related Retinitis Pigmentosa RHR001
Rhombencephalosynapsis RHM015
Riboflavin Deficiency RBF001
Ribose 5-Phosphate Isomerase Deficiency RBS005
Richieri Costa Pereira Syndrome RCH006
Richter's Syndrome RCH001
Rickets RCK004
Rickets Due to Defect in Vitamin D 25-Hydroxylation RCK006
Rickets, Vitamin D-Resistant, Type Iia RCK007 HVDRR
Riddle Syndrome RDD003
Rienhoff Syndrome RNH001
Rift Valley Fever RFT001
Right Atrial Isomerism RGH009
Right Bundle Branch Block RGH001
Rigid Spine Syndrome RGD001 RSS
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal RGD002
Riley-Day Syndrome RLY001 FD
Ring Chromosome 1 RNG004 R1
Ring Chromosome 15 RNG010 R15
Ring Chromosome 20 RNG016 R20
Ring Chromosome 21 RNG017 R21
Ring Chromosome 22 RNG018 R22
Ring Chromosome 6 RNG022 R6
Ring Chromosome 7 RNG023 R7
Ring Dermoid of Cornea RNG003 RDC
Rippling Muscle Disease RPP002 RMD
Rippling Muscle Disease, 1 RPP003 RMD1
Rlbp1-Related Fundus Albipunctatus RLB001
Roberts Syndrome RBR001 RBS
Robinow Sorauf Syndrome RBN005
Robinow Syndrome RBN002
Robinow Syndrome, Autosomal Dominant RBN011
Robinow Syndrome, Autosomal Recessive RBN009 RRS
Rocky Mountain Spotted Fever RCK002 RMSF
Roifman Syndrome RFM001
Roifman-Chitayat Syndrome RFM002
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia RLN002
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked RLN001
Rom1-Related Retinitis Pigmentosa RM1001
Root Caries RTC003
Root Resorption RTR008
Ror2-Related Disorders RR2002
Ror2-Related Robinow Syndrome RR2001
Rosacea RSC001
Rosai-Dorfman Disease RSD004 RDD
Rothmund-Thomson Syndrome RTH001 RTS
Rothmund-Thomson Syndrome Type 2 RTH005 RTS2
Rotor Syndrome RTR013
Rp1-Related Retinitis Pigmentosa RP1001
Rp2-Related Retinitis Pigmentosa RP2001
Rp9-Related Retinitis Pigmentosa RP9001
Rpe65-Related Leber Congenital Amaurosis RP6001
Rpe65-Related Retinitis Pigmentosa RP6002
Rpgr-Related Retinitis Pigmentosa RPG004
Rpgrip1-Related Leber Congenital Amaurosis RPG003
Rpgrip1l-Related Joubert Syndrome RPG001
Rpgrip1l-Related Meckel Syndrome RPG002
Rpl11-Related Diamond-Blackfan Anemia RPL001
Rpl26-Related Diamond-Blackfan Anemia RPL004
Rpl35a-Related Diamond-Blackfan Anemia RPL002
Rpl5-Related Diamond-Blackfan Anemia RPL003
Rps10-Related Diamond-Blackfan Anemia RPS003
Rps17-Related Diamond-Blackfan Anemia RPS004
Rps19-Related Diamond-Blackfan Anemia RPS005
Rps24-Related Diamond-Blackfan Anemia RPS006
Rps26-Related Diamond-Blackfan Anemia RPS007
Rps7-Related Diamond-Blackfan Anemia RPS008
Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy RRM001
Rubella RBL001
Rubinstein-Taybi Syndrome RBN001 RTS
Rubinstein-Taybi Syndrome 2 RBN008
Rubinstein-Taybi Syndrome Due to 16p13.3 Microdeletion RBN012
Rufous Oculocutaneous Albinism RFS004 ROCA
Ruvalcaba Syndrome RVL002
Ryr1-Related Congenital Fiber-Type Disproportion RYR004
Ryr1-Related Malignant Hyperthermia Susceptibility RYR001
Ryr1-Related Multiminicore Disease RYR002
Ryr2-Related Catecholaminergic Polymorphic Ventricular Tachycardia RYR003