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: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; RDCCAS
|
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
|