Disease Name Symbol Acronym
Rabies RBS001
Rabson-Mendenhall Syndrome RBS003
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, 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
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 RDL033
Raf1-Related Leopard Syndrome RF1001
Raf1-Related Noonan Syndrome RF1002
Ragweed Sensitivity RGW001
Raine Syndrome RNS001
Rajab Syndrome RJB001
Raltegravir Toxicity RLT001
Rapadilino Syndrome RPD002
Rapidly Progressive Glomerulonephritis RPD001
Rapp-Hodgkin Syndrome RPP001
Rapsn-Related Congenital Myasthenic Syndrome RPS001
Rapsn-Related Fetal Akinesia Deformation Sequence RPS002
Rare Isolated Myopia RRS002
Ras-Associated Autoimmune Leukoproliferative Disorder RSS025
Rasa1-Related Disorders RS1001
Rasmussen Encephalitis RSM001
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
Reading Disorder RDN001
Recessive Dystrophic Epidermolysis Bullosa RCS002
Recessive Dystrophic Epidermolysis Bullosa-Generalized Other RCS008
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome RCS010
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
Recurrent Hypersomnia RCR002
Recurrent Respiratory Papillomatosis RCR004
Red-Green Color Vision Defects RDG002
Reducing Body Myopathy RDC010
Reducing Body Myopathy, X-Linked 1a, Severe, Infantile or Early Childhood Onset RDC011
Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset RDC012
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
Regional Odontodysplasia RGN005
Regressive Spondylometaphyseal Dysplasia RGR003
Regular Astigmatism RGL001
Relapsing Fever RLP003
Relapsing Polychondritis RLP001
Relapsing-Remitting Multiple Sclerosis RLP002
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 Cell Carcinoma RNL014
Renal Cell Carcinoma 4 RNL034
Renal Cell Carcinoma, Papillary RNL101
Renal Clear Cell Carcinoma RNL003
Renal Cysts and Diabetes Syndrome RNL051
Renal Dysplasia RNL078
Renal Dysplasia, Cystic RNL094
Renal Failure, Progressive, with Hypertension RNL113
Renal Fibrosis RNL077
Renal Glucosuria RNL024
Renal Hypertension RNL015
Renal Hypodysplasia RNL104
Renal Hypodysplasia/aplasia 1 RNL100
Renal Hypodysplasia/aplasia 2 RNL099
Renal Hypoplasia RNL025
Renal Hypoplasia, Bilateral RNL109
Renal Infectious Disease RNL016
Renal Nutcracker Syndrome RNL089
Renal Oncocytoma RNL017
Renal Osteodystrophy RNL011
Renal Pelvis Carcinoma RNL018
Renal Pelvis Transitional Cell Carcinoma RNL019
Renal Tuberculosis RNL012
Renal Tubular Acidosis RNL007
Renal Tubular Acidosis with Deafness RNL026
Renal Tubular Acidosis, Distal RNL045
Renal Tubular Acidosis, Distal, Ad RNL066
Renal Tubular Acidosis, Distal, Ar RNL067
Renal Tubular Acidosis, Distal, Autosomal Recessive RNL047
Renal Tubular Acidosis, Proximal, with Ocular Abnormalities RNL070
Renal Tubular Dysgenesis RNL028
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
Renal-Hepatic-Pancreatic Dysplasia 2 RNL095
Renovascular Hypertension RNV001
Renpenning Syndrome RNP001
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
Respiratory Failure RSP003
Respiratory Syncytial Virus Infectious Disease RSP002
Respiratory System Benign Neoplasm RSP004
Respiratory System Disease RSP006
Restless Legs Syndrome RST001
Restless Legs Syndrome 1 RST012
Restless Legs Syndrome 2 RST013
Restless Legs Syndrome 3 RST014
Restless Legs Syndrome 4 RST015
Restless Legs Syndrome 5 RST021
Restless Legs Syndrome 6 RST020
Restless Legs Syndrome 7 RST016
Restless Legs Syndrome 8 RST019
Restrictive Cardiomyopathy RST002
Restrictive Dermopathy, Lethal RST011
Ret-Related Hirschsprung Disease RTR014
Ret-Related Pheochromocytoma RTR015
Rete Testis Adenocarcinoma RTT004
Rete Testis Adenoma RTT003
Rete Testis Neoplasm RTT005
Reticular Dysgenesis RTC002
Reticular Perineurioma RTC007
Reticulate Acropigmentation of Kitamura RTC008
Reticulohistiocytic Granuloma RTC001
Reticulosarcoma RTC005
Reticulum Cell Sarcoma RTC009
Retiform Hemangioendothelioma RTF001
Retina Lymphoma RTN011
Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis RTN145
Retinal Arteries, Tortuosity of RTN179
Retinal Artery Occlusion RTN014
Retinal Cancer RTN015
Retinal Cone Dystrophy 1 RTN032
Retinal Cone Dystrophy 3 RTN084
Retinal Cone Dystrophy 3b RTN035
Retinal Cone Dystrophy 4 RTN036
Retinal Degeneration RTN016
Retinal Degeneration Autosomal Recessive Clumped Pigment Type RTN132
Retinal Degeneration, Late-Onset, Autosomal Dominant RTN087
Retinal Detachment RTN017
Retinal Disease RTN018
Retinal Drusen RTN006
Retinal Dystrophy and Obesity RTN173
Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities RTN170
Retinal Dystrophy, Early-Onset, and Pituitary Dysfunction RTN139
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome RTN135
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome RTN174
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
Retinitis Pigmentosa 1 RTN172
Retinitis Pigmentosa 10 RTN150
Retinitis Pigmentosa 11 RTN041
Retinitis Pigmentosa 13 RTN043
Retinitis Pigmentosa 14 RTN044
Retinitis Pigmentosa 17 RTN046
Retinitis Pigmentosa 18 RTN047
Retinitis Pigmentosa 19 RTN048
Retinitis Pigmentosa 2 RTN162
Retinitis Pigmentosa 2, X-Linked RTN181
Retinitis Pigmentosa 20 RTN050
Retinitis Pigmentosa 22 RTN051
Retinitis Pigmentosa 23 RTN052
Retinitis Pigmentosa 24 RTN053
Retinitis Pigmentosa 25 RTN054
Retinitis Pigmentosa 26 RTN055
Retinitis Pigmentosa 27 RTN131
Retinitis Pigmentosa 28 RTN056
Retinitis Pigmentosa 29 RTN057
Retinitis Pigmentosa 3 RTN058
Retinitis Pigmentosa 30 RTN059
Retinitis Pigmentosa 31 RTN060
Retinitis Pigmentosa 32 RTN061
Retinitis Pigmentosa 33 RTN062
Retinitis Pigmentosa 34 RTN063
Retinitis Pigmentosa 35 RTN064
Retinitis Pigmentosa 36 RTN065
Retinitis Pigmentosa 37 RTN157
Retinitis Pigmentosa 38 RTN142
Retinitis Pigmentosa 39 RTN141
Retinitis Pigmentosa 4, Autosomal Dominant or Recessive RTN092
Retinitis Pigmentosa 41 RTN067
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 59 RTN171
Retinitis Pigmentosa 60 RTN160
Retinitis Pigmentosa 61 RTN144
Retinitis Pigmentosa 62 RTN146
Retinitis Pigmentosa 63 RTN148
Retinitis Pigmentosa 66 RTN152
Retinitis Pigmentosa 67 RTN140
Retinitis Pigmentosa 68 RTN165
Retinitis Pigmentosa 69 RTN166
Retinitis Pigmentosa 7 and Digenic RTN175
Retinitis Pigmentosa 70 RTN169
Retinitis Pigmentosa 71 RTN176
Retinitis Pigmentosa 72 RTN178
Retinitis Pigmentosa 73 RTN177
Retinitis Pigmentosa 74 RTN180
Retinitis Pigmentosa 75 RTN186
Retinitis Pigmentosa 76 RTN189
Retinitis Pigmentosa 9 RTN070
Retinitis Pigmentosa with or Without Situs Inversus RTN158
Retinitis Pigmentosa-12, Autosomal Recessive RTN096
Retinitis Pigmentosa-40 RTN083
Retinitis Pigmentosa-50 RTN088
Retinitis Pigmentosa-Deafness Syndrome RTN187
Retinitis Pigmentosa, Autosomal Recessive, Bothnia Type RTN081
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
Retinohepatoendocrinologic Syndrome RTN072
Retinoschisis RTN025
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
Rett Syndrome, Congenital Variant RTT008
Reunion Island Larsen Syndrome RNN006
Revesz Syndrome RVS001
Reye Syndrome RYS001
Reynolds Syndrome RYN003
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
Rhabdoid Tumors, Somatic RHB022
Rhabdomyosarcoma RHB003
Rhabdomyosarcoma 2, Alveolar RHB009
Rhabdomyosarcoma, Embryonal, 2 RHB021
Rhabdomyosarcoma, Somatic RHB020
Rheumatic Disease RHM027
Rheumatic Fever RHM001
Rheumatic Heart Disease RHM028
Rheumatic Myocarditis RHM008
Rheumatoid Arthritis RHM011
Rheumatoid Arthritis, Systemic Juvenile RHM021
Rheumatoid Lung Disease RHM009
Rheumatoid Nodulosis RHM013
Rheumatoid Vasculitis RHM014
Rhinitis RHN004
Rhinoscleroma RHN002
Rhinosporidiosis RHN003
Rhizomelic Chondrodysplasia Punctata RHZ001
Rhizomelic Chondrodysplasia Punctata Type 5 RHZ013
Rho-Related Retinitis Pigmentosa RHR001
Rho-Related Retinitis Punctata Albescens RHR002
Rhombencephalosynapsis RHM015
Rhyns Syndrome RHY001
Riboflavin Deficiency RBF001
Riboflavin Transporter Deficiency RBF003
Riboflavin Transporter Deficiency Neuronopathy RBF002
Ribose 5-Phosphate Isomerase Deficiency RBS005
Richards-Rundle Syndrome RCH002
Richter's Syndrome RCH001
Rickets RCK004
Rickets Due to Defect in Vitamin D 25-Hydroxylation RCK006
Rickets, Vitamin D-Resistant, Type Iia RCK007
Riddle Syndrome RDD003
Rieger Syndrome, Type 2 RGR002
Rift Valley Fever RFT001
Right Aortic Arch RGH006
Right Atrial Isomerism RGH009
Right Bundle Branch Block RGH001
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal RGD002
Ring Chromosome 1 RNG004
Ring Chromosome 14 Syndrome RNG029
Ring Chromosome 15 RNG010
Ring Chromosome 20 RNG016
Ring Chromosome 21 RNG017
Ring Chromosome 22 RNG018
Ring Chromosome 4 RNG020
Ring Chromosome 6 RNG022
Ring Chromosome 7 RNG023
Ring Dermoid of Cornea RNG003
Rippling Muscle Disease RPP002
Rippling Muscle Disease, 1 RPP003
Ripply2-Related Spondylocostal Dysostosis, Autosomal Recessive RPP005
Rit1-Related Noonan Syndrome RT1001
Ritscher-Schinzel Syndrome RTS001
Ritscher-Schinzel Syndrome 1 RTS003
Ritscher-Schinzel Syndrome 2 RTS002
Ritter's Disease RTT001
Rlbp1-Related Fundus Albipunctatus RLB001
Rnase T2-Deficient Leukoencephalopathy RNS005
Roberts Syndrome RBR001
Robin Sequence with Cleft Mandible and Limb Anomalies RBN014
Robinow Syndrome, Autosomal Dominant 1 RBN018
Robinow Syndrome, Autosomal Dominant 2 RBN017
Robinow Syndrome, Autosomal Recessive RBN009
Robinow-Sorauf Syndrome RBN013
Rocky Mountain Spotted Fever RCK002
Rohhad RHH001
Roifman Syndrome RFM001
Roifman-Chitayat Syndrome RFM002
Rolandic Epilepsy-Speech Dyspraxia Syndrome RLN004
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia RLN002
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
Ross River Fever RSS001
Rothmund-Thomson Syndrome RTH001
Rothmund-Thomson Syndrome Type 2 RTH005
Roussy-Levy Syndrome RSS002
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
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
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 Disease RRM002
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
Rubinstein-Taybi Syndrome 2 RBN008
Ruijs-Aalfs Syndrome RJS001
Rumination Disorder RMN001
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