Disease Name Symbol Acronym
Rabies RBS001 LYSSA
Rabson-Mendenhall Syndrome RBS003 RMS
Rad21-Related Cornelia De Lange Syndrome RD2001
Rad51-Related Susceptibility to Breast Cancer RD5004
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 RDL022
Radial Hemimelia, Bilateral RDL017
Radial Hemimelia, Unilateral RDL018
Radial Nerve Lesion RDL001
Radial Neuropathy RDL004
Radiation Cystitis RDT001
Radiation Induced Cancer RDT005
Radiation Proctitis RDT013
Radiation Sensitivity/chromosome Instability Syndrome, Autosomal Dominant RDT007
Radiculopathy RDC002
Radioulnar Synostosis RDL002
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia RDL006 RUSAT1
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 RDL033 RUSAT2
Raf1-Related Leopard Syndrome RF1001
Raf1-Related Noonan Syndrome RF1002
Ragweed Sensitivity RGW001
Raine Syndrome RNS001 RNS
Rajab Syndrome RJB001
Raltegravir Toxicity RLT001
Rapadilino Syndrome RPD002 RAPADILINOS
Rapidly Progressive Glomerulonephritis RPD001 RPGN
Rapp-Hodgkin Syndrome RPP001 OFC8
Rapsn-Related Congenital Myasthenic Syndrome RPS001
Rapsn-Related Fetal Akinesia Deformation Sequence RPS002
Rare Isolated Myopia RRS002
Ras-Associated Autoimmune Leukoproliferative Disorder RSS025 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 RP53
Rdh5-Related Fundus Albipunctatus RDH003
Reactive Arthritis RCT015 PIRA
Reading Disorder RDN001
Recessive Dystrophic Epidermolysis Bullosa RCS002 RDEB
Recessive Dystrophic Epidermolysis Bullosa-Generalized Other RCS008
Recessive Dystrophic Epidermolysis Bullosa, Generalized, Severe, Modifier of RCS011
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome RCS010 IDMDC
Recombinase Activating Gene 1 Deficiency RCM002
Recombination Rate Qtl 1 RCM005
Recql4-Related Disorders RCQ001
Rectal Disease RCT017
Rectal Neoplasm RCT018
Rectal Prolapse RCT011
Rectosigmoid Junction Neoplasm RCT008
Rectum Adenocarcinoma RCT020
Rectum Leiomyosarcoma RCT016
Rectum Sarcoma RCT022
Rectum Squamous Cell Carcinoma RCT023
Recurrent Acute Pancreatitis RCR022
Recurrent Corneal Erosion RCR001
Recurrent Hydatidiform Mole RCR026 FRHM
Recurrent Hypersomnia RCR002
Recurrent Respiratory Papillomatosis RCR004 RRP
Red Color Blindness RDC001
Red-Green Color Blindness RDG001
Red-Green Color Vision Defects RDG002
Reducing Body Myopathy RDC010
Reducing Body Myopathy, X-Linked 1a, Severe, Infantile or Early Childhood Onset RDC011 RBMX1A
Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset RDC012 RBMX1B
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 Hairy Cell Leukemia RFR002
Refractory Hematologic Cancer RFR004
Refsum Disease RFS001 RD
Regional Odontodysplasia RGN005
Regressive Spondylometaphyseal Dysplasia RGR003
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, Unilateral RNL105
Renal Artery Atheroma RNL008
Renal Artery Disease RNL097
Renal Artery Obstruction RNL001
Renal Carcinoma, Familial RNL033
Renal Cell Carcinoma RNL014 RCC
Renal Cell Carcinoma 4 RNL034 RCC4
Renal Cell Carcinoma, Papillary RNL101 RCCP
Renal Clear Cell Carcinoma RNL003 CCRCC
Renal Cysts and Diabetes Syndrome RNL051 RCAD
Renal Dysplasia RNL078
Renal Dysplasia, Cystic RNL094 CYSRD
Renal Failure, Progressive, with Hypertension RNL113
Renal Fibrosis RNL077
Renal Glucosuria RNL024 GLYS
Renal Hypertension RNL015
Renal Hypodysplasia RNL104
Renal Hypodysplasia/aplasia 1 RNL100 RHDA1
Renal Hypodysplasia/aplasia 2 RNL099 RHDA2
Renal Hypoplasia RNL025
Renal Hypoplasia, Bilateral RNL109
Renal Infectious Disease RNL016
Renal Nutcracker Syndrome RNL089 RNS
Renal Oncocytoma RNL017
Renal Osteodystrophy RNL011
Renal Pelvis Adenocarcinoma RNL004
Renal Pelvis Carcinoma RNL018
Renal Pelvis Squamous Cell Carcinoma RNL009
Renal Pelvis Transitional Cell Carcinoma RNL019
Renal Tuberculosis RNL012
Renal Tubular Acidosis RNL007
Renal Tubular Acidosis with Deafness RNL026 DRTA-D
Renal Tubular Acidosis, Distal RNL045 DRTA
Renal Tubular Acidosis, Distal, Ad RNL066 AD-DRTA
Renal Tubular Acidosis, Distal, Ar RNL067 DRTA-HA
Renal Tubular Acidosis, Distal, Autosomal Recessive RNL047 RTADR
Renal Tubular Acidosis, Proximal, with Ocular Abnormalities RNL070 PRTA-OA
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 Tubular Transport Disease RNL021
Renal-Hepatic-Pancreatic Dysplasia RNL059
Renal-Hepatic-Pancreatic Dysplasia 1 RNL092 RHPD1
Renal-Hepatic-Pancreatic Dysplasia 2 RNL095 RHPD2
Renovascular Hypertension RNV001
Renpenning Syndrome RNP001 RENS1
Reproductive Organ Benign Neoplasm RPR001
Reproductive Organ Cancer RPR003
Reproductive System Disease RPR002
Resistance to Bleomycine in the Treatment of Testicular Cancer RSS021
Resistance to Tamoxifene RSS022
Resistance to Thyrotropin-Releasing Hormone Syndrome RSS007
Resistance to Vitamin K Antagonists RSS024
Respiratory Distress Syndrome in Premature Infants RSP019 RDS
Respiratory Failure RSP003
Respiratory Syncytial Virus Infectious Disease RSP002
Respiratory System Benign Neoplasm RSP004
Respiratory System Disease RSP006
Restless Legs Syndrome RST001 RLS
Restless Legs Syndrome 1 RST012 RLS1
Restless Legs Syndrome 2 RST013 RLS2
Restless Legs Syndrome 3 RST014 RLS3
Restless Legs Syndrome 4 RST015 RLS 4
Restless Legs Syndrome 5 RST021 RLS 5
Restless Legs Syndrome 6 RST020 RLS6
Restless Legs Syndrome 7 RST016 RLS7
Restless Legs Syndrome 8 RST019
Restrictive Cardiomyopathy RST002 RCM
Restrictive Dermopathy, Lethal RST011 LTSCS
Ret-Related Hirschsprung Disease RTR014
Ret-Related Pheochromocytoma RTR015
Rete Testis Adenocarcinoma RTT004
Rete Testis Adenoma RTT003
Rete Testis Neoplasm RTT005
Reticular Dysgenesis RTC002 RDYS
Reticular Dystrophy of the Retinal Pigment Epithelium RTC006
Reticular Perineurioma RTC007
Reticulate Acropigmentation of Kitamura RTC008 RAK
Reticuloendotheliosis RTC010
Reticulohistiocytic Granuloma RTC001
Reticulosarcoma RTC005
Reticulum Cell Sarcoma RTC009
Retiform Hemangioendothelioma RTF001
Retina Lymphoma RTN011
Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis RTN145 RAMSVPS
Retinal Arteries, Tortuosity of RTN179 RATOR
Retinal Artery Occlusion RTN014
Retinal Cancer RTN015
Retinal Cone Dystrophy 1 RTN032 RCD1
Retinal Cone Dystrophy 3 RTN084 RCD3A
Retinal Cone Dystrophy 3b RTN035 RCD3B
Retinal Cone Dystrophy 4 RTN036 RCD4
Retinal Degeneration RTN016
Retinal Degeneration Autosomal Recessive Clumped Pigment Type RTN132 RDCP
Retinal Degeneration, Late-Onset, Autosomal Dominant RTN087 LORD
Retinal Detachment RTN017
Retinal Disease RTN018
Retinal Drusen RTN006
Retinal Dystrophy and Iris Coloboma with or Without Cataract RTN188
Retinal Dystrophy and Obesity RTN173 RDOB
Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities RTN170 RDGCA
Retinal Dystrophy with or Without Extraocular Anomalies RTN191 RDEOA
Retinal Dystrophy, Early-Onset, and Pituitary Dysfunction RTN139
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome RTN135 RDCCAS
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome RTN174 RDJCSS
Retinal Hemangioblastoma RTN013
Retinal Ischemia RTN003
Retinal Microaneurysm RTN004
Retinal Perforation RTN002
Retinal Telangiectasia RTN019
Retinal Vascular Disease RTN020
Retinal Vascular Occlusion RTN021
Retinal Vasculitis RTN001
Retinal Vein Occlusion RTN022
Retinitis RTN023
Retinitis Pigmentosa RTN008 RP
Retinitis Pigmentosa 1 RTN172 RP1
Retinitis Pigmentosa 10 RTN150 RP10
Retinitis Pigmentosa 11 RTN041 RP11
Retinitis Pigmentosa 13 RTN043 RP13
Retinitis Pigmentosa 14 RTN044 RP14
Retinitis Pigmentosa 17 RTN046 RP17
Retinitis Pigmentosa 18 RTN047 RP18
Retinitis Pigmentosa 19 RTN048 RP19
Retinitis Pigmentosa 2 RTN162 RP2
Retinitis Pigmentosa 2, X-Linked RTN181 RP 2
Retinitis Pigmentosa 20 RTN050 RP20
Retinitis Pigmentosa 22 RTN051 RP22
Retinitis Pigmentosa 23 RTN052 RP23
Retinitis Pigmentosa 24 RTN053 RP24
Retinitis Pigmentosa 25 RTN054 RP25
Retinitis Pigmentosa 26 RTN055 RP26
Retinitis Pigmentosa 27 RTN131 RP27
Retinitis Pigmentosa 28 RTN056 RP28
Retinitis Pigmentosa 29 RTN057 RP29
Retinitis Pigmentosa 3 RTN058 RP3
Retinitis Pigmentosa 30 RTN059 RP30
Retinitis Pigmentosa 31 RTN060 RP31
Retinitis Pigmentosa 32 RTN061 RP32
Retinitis Pigmentosa 33 RTN062 RP33
Retinitis Pigmentosa 34 RTN063 RP34
Retinitis Pigmentosa 35 RTN064 RP35
Retinitis Pigmentosa 36 RTN065 RP36
Retinitis Pigmentosa 37 RTN157 RP37
Retinitis Pigmentosa 38 RTN142 RP38
Retinitis Pigmentosa 39 RTN141 RP39
Retinitis Pigmentosa 4, Autosomal Dominant or Recessive RTN092 RP4
Retinitis Pigmentosa 41 RTN067 RP41
Retinitis Pigmentosa 42 RTN149 RP42
Retinitis Pigmentosa 43 RTN133 RP43
Retinitis Pigmentosa 44 RTN136 RP44
Retinitis Pigmentosa 45 RTN159 RP45
Retinitis Pigmentosa 46 RTN130 RP46
Retinitis Pigmentosa 47 RTN143 RP47
Retinitis Pigmentosa 48 RTN147 RP48
Retinitis Pigmentosa 49 RTN129 RP49
Retinitis Pigmentosa 51 RTN106 RP51
Retinitis Pigmentosa 54 RTN085 RP54
Retinitis Pigmentosa 55 RTN090 RP55
Retinitis Pigmentosa 56 RTN116 MACLP-IMPG2
Retinitis Pigmentosa 57 RTN117 RP57
Retinitis Pigmentosa 58 RTN114 RP58
Retinitis Pigmentosa 59 RTN171 RP59
Retinitis Pigmentosa 60 RTN160 RP60
Retinitis Pigmentosa 61 RTN144 RP61
Retinitis Pigmentosa 62 RTN146 RP62
Retinitis Pigmentosa 63 RTN148 RP63
Retinitis Pigmentosa 66 RTN152 RP66
Retinitis Pigmentosa 67 RTN140 RP67
Retinitis Pigmentosa 68 RTN165 RP68
Retinitis Pigmentosa 69 RTN166 RP69
Retinitis Pigmentosa 7 and Digenic RTN175 RP7
Retinitis Pigmentosa 70 RTN169 RP70
Retinitis Pigmentosa 71 RTN176 RP71
Retinitis Pigmentosa 72 RTN178 RP72
Retinitis Pigmentosa 73 RTN177 RP73
Retinitis Pigmentosa 74 RTN180 RP74
Retinitis Pigmentosa 75 RTN186 RP75
Retinitis Pigmentosa 76 RTN190 RP76
Retinitis Pigmentosa 77 RTN192 RP77
Retinitis Pigmentosa 9 RTN070 RP9
Retinitis Pigmentosa with or Without Situs Inversus RTN158 RPSI
Retinitis Pigmentosa-12, Autosomal Recessive RTN096 RP12
Retinitis Pigmentosa-40 RTN083 RP40
Retinitis Pigmentosa-50 RTN088 RP50
Retinitis Pigmentosa-Deafness Syndrome RTN187
Retinitis Pigmentosa, Autosomal Recessive, Bothnia Type RTN081
Retinitis Pigmentosa, X-Linked Recessive, 6 RTN161 RP6
Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness RTN104 RPDSI
Retinitis Pigmentosa, Y-Linked RTN102 RPY
Retinoblastoma RTN024 RB
Retinohepatoendocrinologic Syndrome RTN072
Retinoschisis RTN025 XLRS1
Retrograde Amnesia RTR001
Retroperitoneal Fibrosis RTR011
Retroperitoneal Hemangiopericytoma RTR006
Retroperitoneal Leiomyosarcoma RTR007
Retroperitoneal Liposarcoma RTR012
Retroperitoneal Neuroblastoma RTR023
Retroperitoneal Sarcoma RTR010
Retroperitoneum Carcinoma RTR004
Rett Syndrome RTT002 RTT
Rett Syndrome, Congenital Variant RTT008 RTTCV
Reunion Island Larsen Syndrome RNN006 RLS
Revesz Syndrome RVS001 DKCA5
Reye Syndrome RYS001 RS
Reynolds Syndrome RYN003 REYNS
Rgr-Related Retinitis Pigmentosa RGR001
Rh Isoimmunization RHS001
Rh-Mod Syndrome RHM012
Rh-Null Regulator Type Related Hemolytic Anemia RHN011
Rhabdoid Cancer RHB001
Rhabdoid Meningioma RHB002
Rhabdoid Tumor Predisposition Syndrome 2 RHB011 RTPS2
Rhabdoid Tumors, Somatic RHB022 RTPS1
Rhabdomyosarcoma RHB003
Rhabdomyosarcoma 2, Alveolar RHB009 RMS2
Rhabdomyosarcoma, Embryonal, 2 RHB021 RMSE2
Rhabdomyosarcoma, Somatic RHB020 RMSE1
Rheumatic Disease RHM027
Rheumatic Fever RHM001
Rheumatic Heart Disease RHM028 RHD
Rheumatic Myocarditis RHM008
Rheumatoid Arthritis RHM011 RA
Rheumatoid Arthritis, Systemic Juvenile RHM021 RASJ
Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis RHM032
Rheumatoid Lung Disease RHM009
Rheumatoid Nodulosis RHM013
Rheumatoid Vasculitis RHM014
Rhinitis RHN004
Rhinoscleroma RHN002
Rhinosporidiosis RHN003
Rhizomelic Chondrodysplasia Punctata RHZ001 RCP
Rhizomelic Chondrodysplasia Punctata Type 5 RHZ013 RCDP5
Rho-Related Retinitis Pigmentosa RHR001 RP4
Rho-Related Retinitis Punctata Albescens RHR002
Rhombencephalosynapsis RHM015
Rhyns Syndrome RHY001
Riboflavin Deficiency RBF001 RBFVD
Riboflavin Transporter Deficiency RBF003 BVVLS
Riboflavin Transporter Deficiency Neuronopathy RBF002 BVVLS
Ribose 5-Phosphate Isomerase Deficiency RBS005 RPID
Richards-Rundle Syndrome RCH002 RRS
Richter's Syndrome RCH001
Rickets RCK004 VDDR
Rickets Due to Defect in Vitamin D 25-Hydroxylation RCK006 VDDR1B
Rickets, Vitamin D-Resistant, Type Iia RCK007 VDDR2A
Riddle Syndrome RDD003 RIDDLES
Rieger Syndrome, Type 2 RGR002 RIEG2
Rift Valley Fever RFT001
Right Aortic Arch RGH006
Right Atrial Isomerism RGH009 RAI
Right Bundle Branch Block RGH001
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal RGD002 RMFSL
Ring Chromosome 1 RNG004 R1
Ring Chromosome 14 Syndrome RNG029
Ring Chromosome 15 RNG010 R15
Ring Chromosome 20 RNG016 R20
Ring Chromosome 21 RNG017 R21
Ring Chromosome 22 RNG018 R22
Ring Chromosome 4 RNG020 R4
Ring Chromosome 6 RNG022 R6
Ring Chromosome 7 RNG023 R7
Ring Dermoid of Cornea RNG003 RDC
Rippling Muscle Disease RPP002 RMD
Rippling Muscle Disease 2 RPP006
Rippling Muscle Disease, 1 RPP003 RMD1
Ripply2-Related Spondylocostal Dysostosis, Autosomal Recessive RPP005 SCDO6
Rit1-Related Noonan Syndrome RT1001
Ritscher-Schinzel Syndrome RTS001 RTSC1
Ritscher-Schinzel Syndrome 1 RTS003 RTSC1
Ritscher-Schinzel Syndrome 2 RTS002 RTSC2
Ritter's Disease RTT001 SSSS
Rlbp1-Related Fundus Albipunctatus RLB001
Rnase T2-Deficient Leukoencephalopathy RNS005 CLWM
Roberts Syndrome RBR001 RBS
Robin Sequence with Cleft Mandible and Limb Anomalies RBN014 RCPS
Robinow Syndrome RBN002
Robinow Syndrome, Autosomal Dominant 1 RBN018 DRS1
Robinow Syndrome, Autosomal Dominant 2 RBN017 DRS2
Robinow Syndrome, Autosomal Recessive RBN009 RRS
Robinow-Sorauf Syndrome RBN013 RSS
Rocky Mountain Spotted Fever RCK002 RMSF
Rohhad RHH001
Roifman Syndrome RFM001
Roifman-Chitayat Syndrome RFM002
Rolandic Epilepsy-Speech Dyspraxia Syndrome RLN004
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia RLN002 RESDX
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
Ross River Fever RSS001
Rothmund-Thomson Syndrome RTH001 RTS
Rothmund-Thomson Syndrome Type 2 RTH005 RTS2
Roussy-Levy Syndrome RSS002 ROULS
Rp1-Related Retinitis Pigmentosa RP1001 RP1
Rp2-Related Retinitis Pigmentosa RP2001 RP2
Rp9-Related Retinitis Pigmentosa RP9001 RP9
Rpe65-Related Leber Congenital Amaurosis RP6001
Rpe65-Related Retinitis Pigmentosa RP6002 RP20
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
Rpl15-Related Diamond-Blackfan Anemia RPL005
Rpl26-Related Diamond-Blackfan Anemia RPL004
Rpl35a-Related Diamond-Blackfan Anemia RPL002
Rpl5-Related Diamond-Blackfan Anemia RPL003
Rps10-Related Diamond-Blackfan Anemia RPS003 DBA9
Rps17-Related Diamond-Blackfan Anemia RPS004
Rps19-Related Diamond-Blackfan Anemia RPS005
Rps24-Related Diamond-Blackfan Anemia RPS006
Rps26-Related Diamond-Blackfan Anemia RPS007 DBA10
Rps7-Related Diamond-Blackfan Anemia RPS008
Rrm2b-Related Mitochondrial Disease RRM002
Rrm2b-Related Mitochondrial Dna Depletion Syndrome RRM004
Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy RRM001
Rtel1-Related Dyskeratosis Congenita RTL001
Rubella RBL001
Rubeosis Iridis RBS002
Rubinstein-Taybi Syndrome RBN001 RSTS1
Rubinstein-Taybi Syndrome 2 RBN008 RSTS2
Ruijs-Aalfs Syndrome RJS001 RJALS
Rumination Disorder RMN001
Ruvalcaba Syndrome RVL002
Ryr1-Related Congenital Fiber-Type Disproportion RYR004
Ryr1-Related Malignant Hyperthermia Susceptibility RYR001 MHS1
Ryr1-Related Multiminicore Disease RYR002
Ryr2-Related Catecholaminergic Polymorphic Ventricular Tachycardia RYR003
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