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Human Disease Vocabulary Browser
The current vocabulary contains human disease, syndrome, and condition terms from Online Mendelian Inheritance in Man (OMIM database).
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Human Diseases/Syndromes Beginning with "R"

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OMIM IDHuman Disease
OMIM:620155 Rabin-Pappas Syndrome; RAPAS
OMIM:312190 Radial Aplasia, X-Linked
OMIM:179200 Radial Heads, Posterior Dislocation of
OMIM:179250 Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, and Maxillary Diastema
OMIM:300378 Radial Ray Deficiency, X-Linked
OMIM:179270 Radial Ray Hypoplasia with Choanal Atresia
OMIM:179280 Radial-Renal Syndrome
OMIM:605463 Radiation Sensitivity/Chromosome Instability Syndrome, Autosomal Dominant
OMIM:312210 Radiation Sensitivity of Natural Killer Activity
OMIM:266250 Radiculoneuropathy, Fatal Neonatal
OMIM:614416 Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies;
OMIM:619312 Radio-Tartaglia Syndrome; RATARS
OMIM:179300 Radioulnar Synostosis, Nonsyndromic, Susceptibility To; RUS
OMIM:300233 Radioulnar Synostosis, Radial Ray Abnormalities, and Severe Malformations in the Male
OMIM:266255 Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia
OMIM:605432 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1; RUSAT1
OMIM:616738 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2; RUSAT2
OMIM:603438 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation
OMIM:179400 Radius, Aplasia of, with Cleft Lip/Palate
OMIM:614202 Rafiq Syndrome; RAFQS
OMIM:179450 Ragweed Sensitivity
OMIM:617537 Rahman Syndrome; RMNS
OMIM:179500 Raindrop Hypopigmentation
OMIM:259775 Raine Syndrome; RNS
OMIM:613658 Rajab Interstitial Lung Disease with Brain Calcifications 1; RILDBC1
OMIM:619013 Rajab Interstitial Lung Disease with Brain Calcifications 2; RILDBC2
OMIM:266270 Ramon Syndrome
OMIM:266280 Rapadilino Syndrome
OMIM:129400 Rapp-Hodgkin Syndrome; RHS
OMIM:614470 Ras-Associated Autoimmune Leukoproliferative Disorder; RALD
OMIM:619695 Rauch-Steindl Syndrome; RAUST
OMIM:300114 Raynaud-Claes Syndrome; MRXSRC
OMIM:179600 Raynaud Disease
OMIM:179613 Recombinant Chromosome 8 Syndrome
OMIM:620370 Recon Progeroid Syndrome; RECON
OMIM:179650 Red Cell Permeability Defect
OMIM:179700 Red Cell Phospholipid Defect with Hemolysis
OMIM:266350 Red Skin Pigment Anomaly of New Guinea
OMIM:300717 Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or Early Childhood Onset; RBMX1A
OMIM:300718 Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset; RBMX1B
OMIM:266400 Reese Retinal Dysplasia
OMIM:604335 Reflex Sympathetic Dystrophy
OMIM:266500 Refsum Disease, Classic
OMIM:266810 Renal and Mullerian Duct Hypoplasia
OMIM:144700 Renal Cell Carcinoma, Nonpapillary; RCC
OMIM:605074 Renal Cell Carcinoma, Papillary, 1; RCCP1
OMIM:300854 Renal Cell Carcinoma, Xp11-Associated; RCCX1
OMIM:137920 Renal Cysts and Diabetes Syndrome; RCAD
OMIM:601331 Renal Dysplasia, Cystic, Susceptibility To; CYSRD
OMIM:266910 Renal Dysplasia-Limb Defects Syndrome
OMIM:161900 Renal Failure, Progressive, with Hypertension; RFH1
OMIM:267400 Renal, Genital, and Middle Ear Anomalies
OMIM:233100 Renal Glucosuria; GLYS
OMIM:208540 Renal-Hepatic-Pancreatic Dysplasia 1; RHPD1
OMIM:615415 Renal-Hepatic-Pancreatic Dysplasia 2; RHPD2
OMIM:191830 Renal Hypodysplasia/Aplasia 1; RHDA1
OMIM:615721 Renal Hypodysplasia/Aplasia 2; RHDA2
OMIM:617805 Renal Hypodysplasia/Aplasia 3; RHDA3
OMIM:619887 Renal Hypodysplasia/Aplasia 4; RHDA4
OMIM:179800 Renal Tubular Acidosis, Distal, 1; DRTA1
OMIM:267300 Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss; DRTA2
OMIM:602722 Renal Tubular Acidosis, Distal, 3, with or without Sensorineural Hearing Loss; DRTA3
OMIM:611590 Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia; DRTA4
OMIM:611555 Renal Tubular Acidosis, Distal, with Nephrocalcinosis, Short Stature, Impaired Intellectual Development, and Distinctive Facies
OMIM:267200 Renal Tubular Acidosis III
OMIM:179830 Renal Tubular Acidosis, Proximal
OMIM:604278 Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Impaired Intellectual Development
OMIM:267430 Renal Tubular Dysgenesis; RTD
OMIM:560000 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia
OMIM:617575 Reni Syndrome; RENI
OMIM:309500 Renpenning Syndrome 1; RENS1
OMIM:267450 Respiratory Distress Syndrome in Premature Infants
OMIM:620233 Respiratory Infections, Recurrent, and Failure to Thrive with or without Diarrhea; RIFTD
OMIM:618803 Respiratory Papillomatosis, Juvenile Recurrent, Congenital; JRRP
OMIM:267480 Respiratory Underresponsiveness to Hypoxia and Hypercapnia
OMIM:102300 Restless Legs Syndrome, Susceptibility to, 1; RLS1
OMIM:608831 Restless Legs Syndrome, Susceptibility to, 2; RLS2
OMIM:610438 Restless Legs Syndrome, Susceptibility to, 3; RLS3
OMIM:610439 Restless Legs Syndrome, Susceptibility to, 4; RLS4
OMIM:611242 Restless Legs Syndrome, Susceptibility to, 5; RLS5
OMIM:611185 Restless Legs Syndrome, Susceptibility to, 6; RLS6
OMIM:612853 Restless Legs Syndrome, Susceptibility to, 7; RLS7
OMIM:615197 Restless Legs Syndrome, Susceptibility to, 8; RLS8
OMIM:275210 Restrictive Dermopathy 1; RSDM1
OMIM:619793 Restrictive Dermopathy 2; RSDM2
OMIM:267500 Reticular Dysgenesis
OMIM:179840 Reticular Dystrophy of Retinal Pigment Epithelium
OMIM:615537 Reticulate Acropigmentation of Kitamura; RAK
OMIM:312500 Reticuloendotheliosis, X-Linked
OMIM:267730 Reticulum Cell Sarcoma
OMIM:179900 Retinal Aplasia
OMIM:614224 Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis;
OMIM:180000 Retinal Arteries, Tortuosity Of; RATOR
OMIM:180020 Retinal Cone Dystrophy 1; RCD1
OMIM:610024 Retinal Cone Dystrophy 3A; RCD3A
OMIM:610356 Retinal Cone Dystrophy 3b; RCD3B
OMIM:610478 Retinal Cone Dystrophy 4; RCD4
OMIM:267740 Retinal Degeneration and Epilepsy
OMIM:267760 Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma
OMIM:180050 Retinal Detachment
OMIM:312550 Retinal Dysplasia, Primary; PRD
OMIM:616722 Retinal Dystrophy and Iris Coloboma with or without Cataract; RDICC
OMIM:619446 Retinal Dystrophy and Microvillus Inclusion Disease; RDMVID
OMIM:616188 Retinal Dystrophy and Obesity; RDOB
OMIM:615147 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome;
OMIM:616108 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome;
OMIM:614979 Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome; ROSAH
OMIM:267800 Retinal Dystrophy, Reticular Pigmentary, of Posterior Pole
OMIM:616079 Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities; RDGCA
OMIM:618863 Retinal Dystrophy with Leukodystrophy; RDLKD
OMIM:617175 Retinal Dystrophy with or without Extraocular Anomalies; RDEOA
OMIM:617547 Retinal Dystrophy with or without Macular Staphyloma; RDMS
OMIM:267900 Retinal Telangiectasia and Hypogammaglobulinemia
OMIM:180080 Retinal Venous Beading
OMIM:180105 Retinitis Pigmentosa 10; RP10
OMIM:600138 Retinitis Pigmentosa 11; RP11
OMIM:600105 Retinitis Pigmentosa 12; RP12
OMIM:600059 Retinitis Pigmentosa 13; RP13
OMIM:600132 Retinitis Pigmentosa 14; RP14
OMIM:600852 Retinitis Pigmentosa 17; RP17
OMIM:601414 Retinitis Pigmentosa 18; RP18
OMIM:601718 Retinitis Pigmentosa 19; RP19
OMIM:180100 Retinitis Pigmentosa 1; RP1
OMIM:613794 Retinitis Pigmentosa 20; RP20
OMIM:602594 Retinitis Pigmentosa 22; RP22
OMIM:300424 Retinitis Pigmentosa 23; RP23
OMIM:300155 Retinitis Pigmentosa 24; RP24
OMIM:602772 Retinitis Pigmentosa 25; RP25
OMIM:608380 Retinitis Pigmentosa 26; RP26
OMIM:613750 Retinitis Pigmentosa 27; RP27
OMIM:606068 Retinitis Pigmentosa 28; RP28
OMIM:612165 Retinitis Pigmentosa 29; RP29
OMIM:312600 Retinitis Pigmentosa 2; RP2
OMIM:607921 Retinitis Pigmentosa 30; RP30
OMIM:609923 Retinitis Pigmentosa 31; RP31
OMIM:609913 Retinitis Pigmentosa 32; RP32
OMIM:610359 Retinitis Pigmentosa 33; RP33
OMIM:300605 Retinitis Pigmentosa 34; RP34
OMIM:610282 Retinitis Pigmentosa 35; RP35
OMIM:610599 Retinitis Pigmentosa 36; RP36
OMIM:611131 Retinitis Pigmentosa 37; RP37
OMIM:613862 Retinitis Pigmentosa 38; RP38
OMIM:613809 Retinitis Pigmentosa 39; RP39
OMIM:300029 Retinitis Pigmentosa 3; RP3
OMIM:613801 Retinitis Pigmentosa 40; RP40
OMIM:612095 Retinitis Pigmentosa 41; RP41
OMIM:612943 Retinitis Pigmentosa 42; RP42
OMIM:613810 Retinitis Pigmentosa 43; RP43
OMIM:613769 Retinitis Pigmentosa 44; RP44
OMIM:613767 Retinitis Pigmentosa 45; RP45
OMIM:612572 Retinitis Pigmentosa 46; RP46
OMIM:613758 Retinitis Pigmentosa 47; RP47
OMIM:613827 Retinitis Pigmentosa 48; RP48
OMIM:613756 Retinitis Pigmentosa 49; RP49
OMIM:613731 Retinitis Pigmentosa 4; RP4
OMIM:613194 Retinitis Pigmentosa 50; RP50
OMIM:613464 Retinitis Pigmentosa 51; RP51
OMIM:613428 Retinitis Pigmentosa 54; RP54
OMIM:613575 Retinitis Pigmentosa 55; RP55
OMIM:613581 Retinitis Pigmentosa 56; RP56
OMIM:613582 Retinitis Pigmentosa 57; RP57
OMIM:613617 Retinitis Pigmentosa 58; RP58
OMIM:613861 Retinitis Pigmentosa 59; RP59
OMIM:613983 Retinitis Pigmentosa 60; RP60
OMIM:614180 Retinitis Pigmentosa 61; RP61
OMIM:614181 Retinitis Pigmentosa 62; RP62
OMIM:614494 Retinitis Pigmentosa 63; RP63
OMIM:615233 Retinitis Pigmentosa 66; RP66
OMIM:615565 Retinitis Pigmentosa 67; RP67
OMIM:615725 Retinitis Pigmentosa 68; RP68
OMIM:615780 Retinitis Pigmentosa 69; RP69
OMIM:312612 Retinitis Pigmentosa 6; RP6
OMIM:615922 Retinitis Pigmentosa 70; RP70
OMIM:616394 Retinitis Pigmentosa 71; RP71
OMIM:616469 Retinitis Pigmentosa 72; RP72
OMIM:616544 Retinitis Pigmentosa 73; RP73
OMIM:616562 Retinitis Pigmentosa 74; RP74
OMIM:617023 Retinitis Pigmentosa 75; RP75
OMIM:617123 Retinitis Pigmentosa 76; RP76
OMIM:617304 Retinitis Pigmentosa 77; RP77
OMIM:617433 Retinitis Pigmentosa 78; RP78
OMIM:617460 Retinitis Pigmentosa 79; RP79
OMIM:608133 Retinitis Pigmentosa 7; RP7
OMIM:617781 Retinitis Pigmentosa 80; RP80
OMIM:617871 Retinitis Pigmentosa 81; RP81
OMIM:615434 Retinitis Pigmentosa 82 with or without Situs Inversus; RP82
OMIM:618173 Retinitis Pigmentosa 83; RP83
OMIM:618220 Retinitis Pigmentosa 84; RP84
OMIM:618345 Retinitis Pigmentosa 85; RP85
OMIM:618613 Retinitis Pigmentosa 86; RP86
OMIM:618697 Retinitis Pigmentosa 87 with Choroidal Involvement; RP87
OMIM:618826 Retinitis Pigmentosa 88; RP88
OMIM:618955 Retinitis Pigmentosa 89; RP89
OMIM:619007 Retinitis Pigmentosa 90; RP90
OMIM:153870 Retinitis Pigmentosa 91; RP91
OMIM:619614 Retinitis Pigmentosa 92; RP92
OMIM:619845 Retinitis Pigmentosa 93; RP93
OMIM:620102 Retinitis Pigmentosa 95; RP95
OMIM:620228 Retinitis Pigmentosa 96; RP96
OMIM:620422 Retinitis Pigmentosa 97; RP97
OMIM:180104 Retinitis Pigmentosa 9; RP9
OMIM:616959 Retinitis Pigmentosa and Erythrocytic Microcytosis; RPEM
OMIM:268020 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism
OMIM:500004 Retinitis Pigmentosa-Deafness Syndrome
OMIM:268010 Retinitis Pigmentosa Inversa with Deafness
OMIM:268025 Retinitis Pigmentosa, Late-Adult Onset
OMIM:268000 Retinitis Pigmentosa; RP
OMIM:250410 Retinitis Pigmentosa with or without Skeletal Anomalies; RPSKA
OMIM:300455 Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections with or without Deafness; RPSRDF
OMIM:400004 Retinitis Pigmentosa, Y-Linked; RPY
OMIM:180200 Retinoblastoma; RB1
OMIM:268040 Retinohepatoendocrinologic Syndrome
OMIM:268060 Retinopathy, Pericentral Pigmentary, Autosomal Recessive
OMIM:180210 Retinopathy, Pericentral Pigmentary, Dominant
OMIM:312700 Retinoschisis 1, X-Linked, Juvenile; RS1
OMIM:180270 Retinoschisis, Autosomal Dominant
OMIM:268080 Retinoschisis of Fovea
OMIM:613454 Rett Syndrome, Congenital Variant
OMIM:312750 Rett Syndrome; RTT
OMIM:268130 Revesz Syndrome
OMIM:613471 Reynolds Syndrome
OMIM:609322 Rhabdoid Tumor Predisposition Syndrome 1; RTPS1
OMIM:613325 Rhabdoid Tumor Predisposition Syndrome 2; RTPS2
OMIM:620235 Rhabdomyolysis, Susceptibility to, 1; RHABDO1
OMIM:268220 Rhabdomyosarcoma 2; RMS2
OMIM:268210 Rhabdomyosarcoma, Embryonal, 1; RMSE1
OMIM:268240 Rheumatic Fever-Related Antigen
OMIM:180300 Rheumatoid Arthritis; RA
OMIM:604302 Rheumatoid Arthritis, Systemic Juvenile
OMIM:180350 Rheumatoid Nodulosis
OMIM:180360 Rhiny
OMIM:215100 Rhizomelic Chondrodysplasia Punctata, Type 1; RCDP1
OMIM:222765 Rhizomelic Chondrodysplasia Punctata, Type 2; RCDP2
OMIM:600121 Rhizomelic Chondrodysplasia Punctata, Type 3; RCDP3
OMIM:616716 Rhizomelic Chondrodysplasia Punctata, Type 5; RCDP5
OMIM:619598 Rhizomelic Dysplasia, Ain-Naz Type; RHZDAN
OMIM:601438 Rhizomelic Dysplasia, Patterson-Lowry Type
OMIM:610319 Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa
OMIM:618821 Rhizomelic Limb Shortening with Dysmorphic Features; RLSDF
OMIM:618019 Rhizomelic Skeletal Dysplasia with or without Pelger-Huet Anomaly;
OMIM:268250 Rhizomelic Syndrome
OMIM:617970 Rh-Null, Amorph Type; RHNA
OMIM:268150 Rh-Null, Regulator Type; RHNR
OMIM:602152 Rhyns Syndrome; RHYNS
OMIM:601477 Ribbing Disease
OMIM:615026 Riboflavin Deficiency; RBFVD
OMIM:608611 Ribose 5-Phosphate Isomerase Deficiency; RPIAD
OMIM:603416 Ribosomal Protein L21 Pseudogene 1; RPL21P1
OMIM:600703 Ribosomal Protein S1-Like; RPS1L
OMIM:245100 Richards-Rundle Syndrome; RRNS
OMIM:268850 Richieri-Costa/Guion-Almeida Syndrome
OMIM:611943 Riddle Syndrome; RIDL
OMIM:208530 Right Atrial Isomerism; RAI
OMIM:610338 Right Pulmonary Artery, Anomalous Origin of, Familial
OMIM:277200 Right Ventricular Hypoplasia, Isolated
OMIM:614498 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal; RMFSL
OMIM:616606 Ring Chromosome 14 Syndrome
OMIM:180550 Ring Dermoid of Cornea; RDC
OMIM:180600 Ringed Hair
OMIM:600332 Rippling Muscle Disease 1; RMD1
OMIM:606072 Rippling Muscle Disease 2; RMD2
OMIM:220210 Ritscher-Schinzel Syndrome 1; RTSC1
OMIM:300963 Ritscher-Schinzel Syndrome 2; RTSC2
OMIM:619135 Ritscher-Schinzel Syndrome 3; RTSC3
OMIM:619435 Ritscher-Schinzel Syndrome 4; RTSC4
OMIM:268300 Roberts-Sc Phocomelia Syndrome; RBS
OMIM:180750 Robinow-Sorauf Syndrome
OMIM:180700 Robinow Syndrome, Autosomal Dominant 1; DRS1
OMIM:616331 Robinow Syndrome, Autosomal Dominant 2; DRS2
OMIM:616894 Robinow Syndrome, Autosomal Dominant 3; DRS3
OMIM:268310 Robinow Syndrome, Autosomal Recessive 1; RRS1
OMIM:618529 Robinow Syndrome, Autosomal Recessive 2; RRS2
OMIM:268305 Robin Sequence with Cleft Mandible and Limb Anomalies
OMIM:608670 Robin Sequence with Distinctive Facial Appearance and Brachydactyly
OMIM:268315 Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction; RCDFRD
OMIM:268320 Rodrigues Blindness
OMIM:613328 Roifman-Chitayat Syndrome; ROCHIS
OMIM:616651 Roifman Syndrome; RFMN
OMIM:300643 Rolandic Epilepsy, Impaired Intellectual Development, and Speech Dyspraxia, X-Linked; RESDX
OMIM:180730 Rombo Syndrome
OMIM:225000 Rosselli-Gulienetti Syndrome
OMIM:618625 Rothmund-Thomson Syndrome, Type 1; RTS1
OMIM:268400 Rothmund-Thomson Syndrome, Type 2; RTS2
OMIM:180800 Roussy-Levy Hereditary Areflexic Dystasia
OMIM:268500 Rowley-Rosenberg Syndrome
OMIM:180849 Rubinstein-Taybi Syndrome 1; RSTS1
OMIM:613684 Rubinstein-Taybi Syndrome 2; RSTS2
OMIM:268650 Rudiger Syndrome
OMIM:616200 Ruijs-Aalfs Syndrome; RJALS
OMIM:312780 Russell-Silver Syndrome, X-Linked
OMIM:180900 Rutherfurd Syndrome
OMIM:180870 Ruvalcaba Syndrome
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Send questions and comments to User Support. 		last database update
04/16/2024
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