Human Disease Vocabulary Browser

The current vocabulary contains human disease, syndrome, and condition terms from Online Mendelian Inheritance in Man (OMIM database).

Browse vocabulary terms by beginning character

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Human Diseases/Syndromes Beginning with "R"

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OMIM ID	Human 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: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:122430	Ramos-Arroyo 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: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:620851	Renu Syndrome; RENU
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:620996	Retinitis Pigmentosa 98; RP98
OMIM:180104	Retinitis Pigmentosa 9; RP9
OMIM:616959	Retinitis Pigmentosa and Erythrocytic Microcytosis; RPEM
OMIM:268020	Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, 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:615789	Rothmund-Thomson Syndrome, Type 3; RTS3
OMIM:620819	Rothmund-Thomson Syndrome, Type 4; RTS4
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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