Disease Name Symbol Acronym
Rab18 Deficiency RB1001
Rabies RBS001 LYSSA
Radial Hemimelia RDL022
Radial Nerve Lesion RDL001
Radial Neuropathy RDL004
Radial Ray Deficiency, X-Linked RDL037 RRDX
Radiation Cystitis RDT001
Radiation Induced Cancer RDT005
Radiation Sensitivity/chromosome Instability Syndrome, Autosomal Dominant RDT007
Radiculopathy RDC002
Radin Blood Group Antigen RDN004 RD
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies RDH004 RHFCA
Radio-Tartaglia Syndrome RDT018 RATARS
Radioulnar Synostosis RDL002
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 RDL034 RUSAT1
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 RDL033 RUSAT2
Radioulnar Synostosis, Nonsyndromic RDL040 RUS
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome RDL039
Rafiq Syndrome RFQ001 RAFQS
Ragweed Sensitivity RGW001
Rahman Syndrome RHM034 RMNS
Raine Syndrome RNS001 RNS
Rajab Interstitial Lung Disease with Brain Calcifications 1 RJB003 RILDBC1
Rajab Interstitial Lung Disease with Brain Calcifications 2 RJB004 RILDBC2
Ramon Syndrome RMN002
Rapadilino Syndrome RPD002 RAPADILINOS
Raph Blood Group System RPH001 MER2
Rapidly Involuting Congenital Hemangioma RPD005 RICH
Rapidly Progressive Glomerulonephritis RPD001
Rapp-Hodgkin Syndrome RPP001 RHS
Rare Cardiomyopathy RRC004
Rare Corneal Disorder RRC027
Rare Disease with Pierre Robin Syndrome RRD018
Rare Genetic Deafness RRG078
Rare Genetic Epilepsy RRG018
Rare Genetic Intellectual Disability RRG006
Rare Hereditary Hemochromatosis RRH023
Rare Isolated Myopia RRS002
Rare Pervasive Developmental Disorder RRP002
Rare Renal Tubular Disease RRR011
Rare Syndromic Intellectual Disability RRS015
Rare Tumor RRT020
Ras-Associated Autoimmune Leukoproliferative Disorder RSS025 RALD
Rasopathy RSP023
Rauch-Steindl Syndrome RCH011 RAUST
Ravine Syndrome RVN001
Raynaud Disease RYN001
Raynaud-Claes Syndrome RYN006 MRXSRC
Reactive Arthritis RCT015 PIRA
Reading Disorder RDN001
Recessive Dystrophic Epidermolysis Bullosa RCS002
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome RCS010 IDMDC
Recombinase Activating Gene 1 Deficiency RCM002
Recombinase Activating Gene 2 Deficiency RCM001
Recombination Rate Quantitative Trait Locus 1 RCM006 RRQTL1
Rectal Benign Neoplasm RCT036
Rectal Disease RCT017
Rectosigmoid Cancer RCT009
Rectosigmoid Junction Neoplasm RCT008
Rectum Adenocarcinoma RCT020
Rectum Adenoma RCT035
Rectum Cancer RCT021
Rectum Carcinoma in Situ RCT010
Rectum Leiomyosarcoma RCT016
Rectum Lymphoma RCT002
Rectum Neuroendocrine Neoplasm RCT005
Rectum Sarcoma RCT022
Rectum Signet Ring Adenocarcinoma RCT013
Rectum Squamous Cell Carcinoma RCT023
Recurrent Corneal Erosion RCR001
Recurrent Hydatidiform Mole RCR026 FRHM
Recurrent Hypersomnia RCR002
Red-Green Color Blindness RDG001
Reducing Body Myopathy RDC010
Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or Early Childhood Onset RDC016 RBMX1A
Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset RDC012 RBMX1B
Reflex Epilepsy RFL002
Reflex Sympathetic Dystrophy RFL001
Refractive Amblyopia RFR017
Refractive Error RFR003
Refractory Anemia RFR010
Refractory Anemia with Excess Blasts RFR008 RAEB
Refractory Anemia with Excess Blasts Type 1 RFR015
Refractory Anemia with Excess Blasts Type 2 RFR014
Refractory Cytopenia with Multilineage Dysplasia RFR009
Refractory Hairy Cell Leukemia RFR002
Refractory Hematologic Cancer RFR004
Refractory Plasma Cell Neoplasm RFR001
Refsum Disease, Classic RFS006 RD
Refsum Disease, Infantile Form RFS003 IRD
Regional Odontodysplasia RGN005
Regular Astigmatism RGL001
Rela Fusion-Positive Ependymoma RLF001
Relapsed/refractory Diffuse Large B-Cell Lymphoma RLP008
Relapsing Fever RLP003
Relapsing Polychondritis RLP001
Relapsing-Remitting Multiple Sclerosis RLP002 RRMS
Rem Sleep Behavior Disorder RMS001
Renal Adenoma RNL013
Renal Agenesis, Bilateral RNL123
Renal Artery Atheroma RNL008
Renal Artery Disease RNL097
Renal Artery Obstruction RNL001
Renal Cell Carcinoma 4 RNL034 RCC4
Renal Cell Carcinoma, Nonpapillary RNL114 RCC
Renal Cell Carcinoma, Papillary, 1 RNL065 RCCP1
Renal Cell Carcinoma, Xp11-Associated RNL119 RCCX1
Renal Ciliopathy RNL130
Renal Cysts and Diabetes Syndrome RNL051 RCAD
Renal Dysplasia RNL078
Renal Dysplasia, Bilateral RNL107
Renal Dysplasia, Cystic RNL094 CYSRD
Renal Dysplasia, Unilateral RNL106
Renal Failure, Progressive, with Hypertension RNL113 RFH1
Renal Fibrosis RNL077
Renal Glucosuria RNL024 GLYS
Renal Hypertension RNL015
Renal Hypodysplasia/aplasia 1 RNL100 RHDA1
Renal Hypodysplasia/aplasia 2 RNL099 RHDA2
Renal Hypodysplasia/aplasia 3 RNL122 RHDA3
Renal Hypodysplasia/aplasia 4 RNL129 RHDA4
Renal Hypoplasia RNL025
Renal Hypoplasia, Bilateral RNL109
Renal Infectious Disease RNL016
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, Distal, 1 RNL125 DRTA1
Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss RNL126 DRTA2
Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural Hearing Loss RNL127 DRTA3
Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia RNL128 DRTA4
Renal Tubular Acidosis, Proximal RNL115 PRTA
Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation RNL120 PRTA-OA
Renal Tubular Dysgenesis RNL028 RTD
Renal Tubular Transport Disease RNL021
Renal Wilms' Tumor RNL005
Renal-Hepatic-Pancreatic Dysplasia RNL059
Renal-Hepatic-Pancreatic Dysplasia 1 RNL092 RHPD1
Renal-Hepatic-Pancreatic Dysplasia 2 RNL095 RHPD2
Renovascular Hypertension RNV001
Renpenning Syndrome 1 RNP003 RENS1
Repressor of Telomerase Expression 1 RPR004 RTE1
Reproductive Organ Benign Neoplasm RPR001
Reproductive System Disease RPR002
Residual Stage Angle-Closure Glaucoma RSD001
Residual Stage of Open Angle Glaucoma RSD002
Resistance to Thyroid Hormone Due to a Mutation in Thyroid Hormone Receptor Alpha RSS029 RTHA
Resistance to Thyroid Hormone Due to a Mutation in Thyroid Hormone Receptor Beta RSS030 RTHB
Respiratory Allergy RSP021
Respiratory Distress Syndrome in Premature Infants RSP019 RDS
Respiratory Failure RSP003
Respiratory Papillomatosis, Juvenile Recurrent, Congenital RSP027 JRRP
Respiratory Rhythmicity in Sleep RSP008 RRIS
Respiratory Syncytial Virus Infectious Disease RSP002
Respiratory System Benign Neoplasm RSP004
Respiratory System Cancer RSP005
Respiratory System Disease RSP006
Resting Heart Rate, Variation in RST023 RHR
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 RLS4
Restless Legs Syndrome 5 RST021 RLS5
Restless Legs Syndrome 6 RST020 RLS6
Restless Legs Syndrome 7 RST016 RLS7
Restless Legs Syndrome 8 RST019 RLS8
Restrictive Cardiomyopathy RST002 RCM
Restrictive Dermopathy 1 RST025 RSDM1
Restrictive Dermopathy 2 RST026 RSDM2
Rete Ovarii Adenocarcinoma RTV002
Rete Ovarii Adenoma RTV004
Rete Ovarii Benign Neoplasm RTV008
Rete Testis Adenocarcinoma RTT004
Rete Testis Adenoma RTT003
Rete Testis Neoplasm RTT005
Reticular Dysgenesis RTC002 RDYS
Reticular Dystrophy of Retinal Pigment Epithelium RTC011
Reticulate Acropigmentation of Kitamura RTC008 RAK
Reticuloendotheliosis, X-Linked RTC012
Reticulohistiocytic Granuloma RTC001
Reticulosarcoma RTC005
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 Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene RTN223
Retinal Cone Dystrophy 1 RTN032 RCD1
Retinal Cone Dystrophy 3a RTN034 RCD3A
Retinal Cone Dystrophy 3b RTN035 RCD3B
Retinal Cone Dystrophy 4 RTN036 RCD4
Retinal Degeneration RTN016
Retinal Detachment RTN017
Retinal Disease RTN018
Retinal Drusen RTN006
Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract RTN211 RDICC
Retinal Dystrophy and Microvillus Inclusion Disease RTN236 RDMVID
Retinal Dystrophy and Obesity RTN173 RDOB
Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities RTN170 RDGCA
Retinal Dystrophy with Leukodystrophy RTN231 RDLKD
Retinal Dystrophy with or Without Extraocular Anomalies RTN191 RDEOA
Retinal Dystrophy with or Without Macular Staphyloma RTN212 RDMS
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome RTN135 RDCCAS
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome RTN174 RDJCSS
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome RTN232 ROSAH
Retinal Hemangioblastoma RTN013
Retinal Ischemia RTN003
Retinal Lattice Degeneration RTN005
Retinal Melanoma RTN010
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 12 RTN042 RP12
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 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 RTN066 RP4
Retinitis Pigmentosa 40 RTN134 RP40
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 50 RTN210 RP50
Retinitis Pigmentosa 51 RTN106 RP51
Retinitis Pigmentosa 54 RTN085 RP54
Retinitis Pigmentosa 55 RTN090 RP55
Retinitis Pigmentosa 56 RTN116 RP56
Retinitis Pigmentosa 57 RTN117 RP57
Retinitis Pigmentosa 58 RTN114 RP58
Retinitis Pigmentosa 59 RTN171 RP59
Retinitis Pigmentosa 6 RTN068 RP6
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 RTN069 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 78 RTN196 RP78
Retinitis Pigmentosa 79 RTN195 RP79
Retinitis Pigmentosa 80 RTN213 RP80
Retinitis Pigmentosa 81 RTN214 RP81
Retinitis Pigmentosa 82 with or Without Situs Inversus RTN216 RP82
Retinitis Pigmentosa 83 RTN217 RP83
Retinitis Pigmentosa 84 RTN218 RP84
Retinitis Pigmentosa 85 RTN219 RP85
Retinitis Pigmentosa 86 RTN227 RP86
Retinitis Pigmentosa 87 with Choroidal Involvement RTN229 RP87
Retinitis Pigmentosa 88 RTN230 RP88
Retinitis Pigmentosa 89 RTN233 RP89
Retinitis Pigmentosa 9 RTN070 RP9
Retinitis Pigmentosa 90 RTN234 RP90
Retinitis Pigmentosa 91 RTN237 RP91
Retinitis Pigmentosa 92 RTN238 RP92
Retinitis Pigmentosa 93 RTN239 RP93
Retinitis Pigmentosa and Erythrocytic Microcytosis RTN193 RPEM
Retinitis Pigmentosa with or Without Skeletal Anomalies RTN194 RPSKA
Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness RTN104 RPDSI
Retinitis Pigmentosa, Y-Linked RTN102 RPY
Retinitis Pigmentosa-Deafness Syndrome RTN187
Retinoblastoma RTN024 RB1
Retinochoroidal Coloboma RTN123
Retinohepatoendocrinologic Syndrome RTN072 ALMS
Retinoschisis 1, X-Linked, Juvenile RTN209 RS1
Retrograde Amnesia RTR001
Retroperitoneal Fibrosis RTR011
Retroperitoneal Hemangiopericytoma RTR006
Retroperitoneal Leiomyosarcoma RTR007
Retroperitoneal Liposarcoma RTR012
Retroperitoneal Lymphoma RTR005
Retroperitoneal Neuroblastoma RTR023
Retroperitoneal Sarcoma RTR010
Retroperitoneum Carcinoma RTR004
Rett Syndrome RTT002 RTT
Rett Syndrome, Congenital Variant RTT008 RTTCV
Revesz Syndrome RVS001 DKCA5
Reye Syndrome RYS001 RE
Reynolds Syndrome RYN003 REYNS
Rh Isoimmunization RHS001
Rhabdoid Cancer RHB001
Rhabdoid Meningioma RHB002
Rhabdoid Tumor Predisposition Syndrome 1 RHB008 RTPS1
Rhabdoid Tumor Predisposition Syndrome 2 RHB011 RTPS2
Rhabdomyolysis-Myalgia Syndrome RHB025
Rhabdomyosarcoma RHB003
Rhabdomyosarcoma 2 RHB024 RMS2
Rhabdomyosarcoma, Embryonal, 1 RHB023 RMSE1
Rhabdomyosarcoma, Embryonal, 2 RHB021 RMSE2
Rheumatic Fever RHM001
Rheumatic Heart Disease RHM028 RHD
Rheumatic Myocarditis RHM008
Rheumatic Pulmonary Valve Disease RHM002
Rheumatoid Arthritis RHM011 RA
Rheumatoid Arthritis Interstitial Lung Disease RHM036
Rheumatoid Arthritis, Systemic Juvenile RHM021 RASJ
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis RHM037
Rheumatoid Vasculitis RHM014
Rhinitis RHN004
Rhinoscleroma RHN002
Rhinosporidiosis RHN003
Rhizomelic Chondrodysplasia Punctata RHZ001 RCP
Rhizomelic Chondrodysplasia Punctata, Type 1 RHZ011 RCDP1
Rhizomelic Chondrodysplasia Punctata, Type 2 RHZ014 RCDP2
Rhizomelic Chondrodysplasia Punctata, Type 3 RHZ004 RCDP3
Rhizomelic Chondrodysplasia Punctata, Type 5 RHZ015 RCDP5
Rhizomelic Dysplasia, Ain-Naz Type RHZ017 RHZDAN
Rhizomelic Limb Shortening with Dysmorphic Features RHZ016 RLSDF
Rhizomelic Skeletal Dysplasia with or Without Pelger-Huet Anomaly RHZ019 SKPHA
Rh-Null, Amorph Type RHN014 RHNA
Rh-Null, Regulator Type RHN013 RHNR
Rhombencephalosynapsis RHM015
Rhyns Syndrome RHY001 RHYNS
Riboflavin Deficiency RBF001 RBFVD
Riboflavin Transporter Deficiency RBF003 BVVLS
Ribose 5-Phosphate Isomerase Deficiency RBS005 RPIAD
Richter's Syndrome RCH001
Rickets RCK004
Rickettsialpox RCK003
Riddle Syndrome RDD003 RIDL
Riedel's Fibrosing Thyroiditis RDL003
Rift Valley Fever RFT001
Right Aortic Arch RGH006
Right Atrial Isomerism RGH009 RAI
Right Bundle Branch Block RGH001
Right Ventricular Hypoplasia, Isolated RGH010 IRVH
Rigid Spine Muscular Dystrophy RGD004 RSMD
Rigid Spine Muscular Dystrophy 1 RGD003 RSMD1
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal RGD002 RMFSL
Ring Chromosome RNG032
Ring Chromosome 1 RNG004 R1
Ring Chromosome 14 Syndrome RNG029
Ring Corneal Ulcer RNG002
Ring Dermoid of Cornea RNG003 RDC
Rippling Muscle Disease 1 RPP007 RMD1
Rippling Muscle Disease 2 RPP006 RMD2
Ritscher-Schinzel Syndrome RTS001
Ritscher-Schinzel Syndrome 1 RTS003 RTSC1
Ritscher-Schinzel Syndrome 2 RTS002 RTSC2
Ritscher-Schinzel Syndrome 3 RTS004 RTSC3
Ritscher-Schinzel Syndrome 4 RTS005 RTSC4
Ritter's Disease RTT001 SSSS
Roberts-Sc Phocomelia Syndrome RBR002 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 Dominant 3 RBN020 DRS3
Robinow Syndrome, Autosomal Recessive 1 RBN022 RRS1
Robinow Syndrome, Autosomal Recessive 2 RBN023 RRS2
Robinow-Sorauf Syndrome RBN013 RSS
Rocky Mountain Spotted Fever RCK002 RMSF
Rocuronium Allergy RCR031
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction RDC015 RCDFRD
Roifman Syndrome RFM001 RFMN
Roifman-Chitayat Syndrome RFM002 ROCHIS
Rolandic Epilepsy, Impaired Intellectual Development, and Speech Dyspraxia, X-Linked RLN005 RESDX
Rolandic Epilepsy-Speech Dyspraxia Syndrome RLN004
Root Caries RTC003
Root Resorption RTR008
Rosacea RSC001
Rosette-Forming Glioneuronal Tumor RST024 RGNT
Ross River Fever RSS001
Rothmund-Thomson Syndrome, Type 1 RTH007 RTS1
Rothmund-Thomson Syndrome, Type 2 RTH006 RTS2
Roussy-Levy Hereditary Areflexic Dystasia RSS026 ROULS
Rubella RBL001
Rubeosis Iridis RBS002
Rubinstein Taybi Like Syndrome RBN007
Rubinstein-Taybi Syndrome 1 RBN021 RSTS1
Rubinstein-Taybi Syndrome 2 RBN008 RSTS2
Ruijs-Aalfs Syndrome RJS001 RJALS
Rumination Disorder RMN001
Ruvalcaba Syndrome RVL002
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