Disease Name Symbol Acronym
Rab18 Deficiency RB1001
Rabies RBS001
Radial Hemimelia, Bilateral RDL017
Radial Hemimelia, Unilateral RDL018
Radial Neuropathy RDL004
Radial Ray Deficiency, X-Linked RDL037
Radiation Cystitis RDT001
Radiation Induced Cancer RDT005
Radiation Proctitis RDT013
Radiation Sensitivity/chromosome Instability Syndrome, Autosomal Dominant RDT007
Radiculopathy RDC002
Radin Blood Group Antigen RDN004
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome RDL039
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies RDH004
Radioulnar Synostosis RDL002
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 RDL034
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 RDL033
Ragweed Sensitivity RGW001
Rahman Syndrome RHM034
Raine Syndrome RNS001
Rajab Syndrome RJB001
Raltegravir Toxicity RLT001
Rapadilino Syndrome RPD002
Raph Blood Group System RPH001
Rapidly Progressive Glomerulonephritis RPD001
Rapp-Hodgkin Syndrome RPP001
Rare Adenocarcinoma of the Breast RRD004
Rare Isolated Myopia RRS002
Ras-Associated Autoimmune Leukoproliferative Disorder RSS025
Rasmussen Encephalitis RSM001
Raynaud Disease RYN001
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 Quantitative Trait Locus 1 RCM006
Rectal Disease RCT017
Rectal Neoplasm RCT018
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 Blindness RDG001
Reducing Body Myopathy RDC010
Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or Early Childhood Onset RDC016
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, Classic RFS006
Refsum Disease, Infantile Form RFS003
Regional Odontodysplasia RGN005
Regressive Spondylometaphyseal Dysplasia RGR003
Regular Astigmatism RGL001
Relapsed/refractory Diffuse Large B-Cell Lymphoma RLP008
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, Bilateral RNL123
Renal Agenesis, Unilateral RNL105
Renal Artery Atheroma RNL008
Renal Artery Disease RNL097
Renal Artery Obstruction RNL001
Renal Carcinoma, Familial RNL033
Renal Cell Carcinoma 4 RNL034
Renal Cell Carcinoma, Nonpapillary RNL114
Renal Cell Carcinoma, Papillary, 1 RNL065
Renal Cell Carcinoma, Xp11-Associated RNL119
Renal Clear Cell Carcinoma RNL003
Renal Cysts and Diabetes Syndrome RNL051
Renal Dysplasia RNL078
Renal Dysplasia Diffuse Cystic RNL036
Renal Dysplasia, Cystic RNL094
Renal Failure, Progressive, with Hypertension RNL113
Renal Fibrosis RNL077
Renal Glucosuria RNL024
Renal Hypertension RNL015
Renal Hypodysplasia/aplasia 1 RNL100
Renal Hypodysplasia/aplasia 2 RNL099
Renal Hypodysplasia/aplasia 3 RNL122
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 RNL045
Renal Tubular Acidosis, Distal, Autosomal Dominant RNL046
Renal Tubular Acidosis, Distal, Autosomal Recessive RNL047
Renal Tubular Acidosis, Distal, with Hemolytic Anemia RNL054
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness RNL118
Renal Tubular Acidosis, Proximal RNL115
Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation RNL120
Renal Tubular Dysgenesis RNL028
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 1 RNP003
Repressor of Telomerase Expression 1 RPR004
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 Rhythmicity in Sleep RSP008
Respiratory Syncytial Virus Infectious Disease RSP002
Respiratory System Benign Neoplasm RSP004
Respiratory System Disease RSP006
Resting Heart Rate, Variation in RST023
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
Rete Testis Adenocarcinoma RTT004
Rete Testis Adenoma RTT003
Rete Testis Neoplasm RTT005
Reticular Dysgenesis RTC002
Reticular Dystrophy of Retinal Pigment Epithelium RTC011
Reticular Perineurioma RTC007
Reticulate Acropigmentation of Kitamura RTC008
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
Retinal Arteries, Tortuosity of RTN179
Retinal Artery Occlusion RTN014
Retinal Cancer RTN015
Retinal Cone Dystrophy 1 RTN032
Retinal Cone Dystrophy 3a RTN034
Retinal Cone Dystrophy 3b RTN035
Retinal Cone Dystrophy 4 RTN036
Retinal Degeneration RTN016
Retinal Detachment RTN017
Retinal Disease RTN018
Retinal Drusen RTN006
Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract RTN211
Retinal Dystrophy and Obesity RTN173
Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities RTN170
Retinal Dystrophy with or Without Extraocular Anomalies RTN191
Retinal Dystrophy with or Without Macular Staphyloma RTN212
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 12 RTN042
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 RTN066
Retinitis Pigmentosa 40 RTN134
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 50 RTN210
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 6 RTN068
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 RTN069
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 RTN190
Retinitis Pigmentosa 77 RTN192
Retinitis Pigmentosa 78 RTN196
Retinitis Pigmentosa 79 RTN195
Retinitis Pigmentosa 80 RTN213
Retinitis Pigmentosa 9 RTN070
Retinitis Pigmentosa and Erythrocytic Microcytosis RTN193
Retinitis Pigmentosa with or Without Situs Inversus RTN158
Retinitis Pigmentosa with or Without Skeletal Anomalies RTN194
Retinitis Pigmentosa-Deafness Syndrome RTN187
Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness RTN104
Retinitis Pigmentosa, Y-Linked RTN102
Retinoblastoma RTN024
Retinohepatoendocrinologic Syndrome RTN072
Retinoschisis 1, X-Linked, Juvenile RTN209
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
Rett Syndrome, Congenital Variant RTT008
Reunion Island Larsen Syndrome RNN006
Revesz Syndrome RVS001
Reye Syndrome RYS001
Reynolds Syndrome RYN003
Rh Isoimmunization RHS001
Rh-Null, Regulator Type RHN013
Rhabdoid Cancer RHB001
Rhabdoid Meningioma RHB002
Rhabdoid Tumor Predisposition Syndrome 1 RHB008
Rhabdoid Tumor Predisposition Syndrome 2 RHB011
Rhabdomyosarcoma RHB003
Rhabdomyosarcoma 2 RHB024
Rhabdomyosarcoma, Embryonal, 1 RHB023
Rhabdomyosarcoma, Embryonal, 2 RHB021
Rheumatic Disease RHM027
Rheumatic Fever RHM001
Rheumatic Heart Disease RHM028
Rheumatic Myocarditis RHM008
Rheumatoid Arthritis RHM011
Rheumatoid Arthritis, Systemic Juvenile RHM021
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
Rhizomelic Chondrodysplasia Punctata, Type 1 RHZ011
Rhizomelic Chondrodysplasia Punctata, Type 2 RHZ014
Rhizomelic Chondrodysplasia Punctata, Type 3 RHZ004
Rhizomelic Chondrodysplasia Punctata, Type 5 RHZ015
Rhombencephalosynapsis RHM015
Rhyns Syndrome RHY001
Riboflavin Deficiency RBF001
Ribose 5-Phosphate Isomerase Deficiency RBS005
Ribosomal Protein L21 Pseudogene 1 RBS007
Richter's Syndrome RCH001
Rickets RCK004
Riddle Syndrome RDD003
Rift Valley Fever RFT001
Right Aortic Arch RGH006
Right Atrial Isomerism RGH009
Right Bundle Branch Block RGH001
Rigid Spine Muscular Dystrophy 1 RGD003
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 1 RPP007
Rippling Muscle Disease 2 RPP006
Ritscher-Schinzel Syndrome RTS001
Ritscher-Schinzel Syndrome 1 RTS003
Ritscher-Schinzel Syndrome 2 RTS002
Ritter's Disease RTT001
Rnase T2-Deficient Leukoencephalopathy RNS005
Roberts Syndrome RBR001
Robin Sequence with Cleft Mandible and Limb Anomalies RBN014
Robinow Syndrome RBN002
Robinow Syndrome, Autosomal Dominant 1 RBN018
Robinow Syndrome, Autosomal Dominant 2 RBN017
Robinow Syndrome, Autosomal Dominant 3 RBN020
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, X-Linked RLN001
Root Caries RTC003
Root Resorption RTR008
Rosacea RSC001
Rosai-Dorfman Disease RSD004
Ross River Fever RSS001
Rothmund-Thomson Syndrome RTH001
Rothmund-Thomson Syndrome Type 2 RTH005
Roussy-Levy Hereditary Areflexic Dystasia RSS026
Rrm2b-Related Mitochondrial Disease RRM002
Rrm2b-Related Mitochondrial Dna Depletion Syndrome RRM004
Rubella RBL001
Rubeosis Iridis RBS002
Rubinstein-Taybi Syndrome 1 RBN021
Rubinstein-Taybi Syndrome 2 RBN008
Ruijs-Aalfs Syndrome RJS001
Rumination Disorder RMN001
Ruvalcaba Syndrome RVL002
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