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RabiesA viral infection spread by animal bites that affects the brain.RadiculopathyA peripheral nervous system disease that is characterized by the pinching of a nerve root in the spine and has symptoms of pain, weakness, numbness and tingling.Rafiq SyndromeAn autosomal recessive intellectual developmental disorder that is characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia and that is ca RagopathyA syndrome that is caused by mutations in heterodimeric Ras-related small GTP-binding proteins (Rag-GTPases), which bind mTORC1 in an amino acid-dependent manner and serve as crucial regulators of its kinase activity tow Rainbow Trout AllergyA fish allergy triggered by Oncorhynchus mykiss.Ramond-Elliott Neurodevelopmental SyndromeAn autosomal dominant intellectual developmental disorder characterized by global developmental delay, hypotonia, delayed walking or inability to walk, impaired intellectual development that is usually severe, and poor o Ramon SyndromeA syndrome characterized by cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth.Ramsay Hunt SyndromeA herpes zoster that causes inflammation in facial nerve, which leads to paralysis of one side of the face, is caused by Human herpesvirus 3 (Varicellovirus humanalpha3), which reactivates after appearing as chickenpox i Ranitidine AllergyA drug allergy that triggered by ranitidine.Rapadilino SyndromeA syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, is caused by homozygous or compound heterozygo Rapidly Involuting Congenital HemangiomaA hemangioma that is characterized by complete regression.Rapp-Hodgkin SyndromeAn ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate.RASopathyA syndrome that is caused by mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.Raynaud-Claes SyndromeA syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric diso Raynaud DiseaseA peripheral vascular disease that is characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or cyanosis in response to cold exposure or stress.Raynaud's PhenomenonFingers and toes turn white or blue in response to cold or stress.Reactive ArthritisArthritis triggered by an infection.Reactive Attachment DisorderDifficulty forming emotional bonds after early neglect.Reading DisorderA learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process.Recessive Dystrophic Epidermolysis BullosaAn epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it is caused by homozygous or compound heterozygous mutation in the Recombinase Activating Gene 1 DeficiencyA severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.Recombinase Activating Gene 2 DeficiencyA severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.Rectal AdenomaAn rectal benign neoplasm that is caused by epithelial tissue with glandular origin.Rectal Benign NeoplasmAn intestinal benign neoplasm in the rectum.Rectal LeiomyomaA rectal benign neoplasm that is caused by smooth muscle tissue.Rectal LipomaA rectal benign neoplasm that is caused by fat tissue.Rectum AdenocarcinomaA rectum cancer that arises from epithelial cells of glandular origin.Rectum CancerA colorectal cancer that is in the rectum.Rectum Carcinoma in SituAn in situ carcinoma that is in the rectum.Rectum Kaposi'S SarcomaA sarcoma of the rectum that causes lesions that are in the rectum.Rectum LeiomyosarcomaA rectum sarcoma that is a smooth muscle tumor and is in the rectum.Rectum Mucinous AdenocarcinomaA rectal adenocarcinoma that produces mucin.Rectum RhabdomyosarcomaA rectum sarcoma that is in the rectum in which the cancer cells are thought to arise from skeletal muscle progenitors.Rectum SarcomaA sarcoma and malignant tumor of rectum that is in the rectum.Rectum Squamous Cell CarcinomaA squamous cell carcinoma that is in the rectum.Recurrent HypersomniaA sleep disorder that involves recurring bouts of excessive amounts of sleepiness.Recurrent Respiratory PapillomatosisA respiratory system benign neoplasm that is characterized by recurrent wart-like growths on the surface of the larynx, trachea, or lungs, commonly caused by human papillomavirus types 6 and 11.Reducing Body Myopathy 1AA myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with Reducing Body Myopathy 1BA myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with Reflex EpilepsySeizures triggered by specific stimuli like flashing lights.Refractive AmblyopiaAn amblyopia that is characterized by refractive error in one or both eyes that is not corrected early in childhood resulting in poor development of the visual function in the affected eye(s).Refractory Hairy Cell LeukemiaA refractory hematologic cancer that is a mature B cell cancer that does not yield readily to treatment.Refractory Hematologic CancerA hematologic cancer that is located in the blood or bone marrow that doesn't respond to treatment.Refsum DiseaseA lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic a Reis-Bucklers Corneal DystrophyAn epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive ear RELA Fusion-Positive EpendymomaA supratentorial ependymoma that is caused by presence of a RELA fusion gene.Relapsed/Refractory Diffuse Large B-Cell LymphomaA diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remissio Relapsing FeverA primary bacterial infectious disease that causes infection, is caused by Borrelia, which is transmitted by tick or transmitted by body louse.Relapsing PolychondritisA chondromalacia that is characterized by recurrent inflammation of cartilage and other tissues throughout the body.Relapsing-Remitting Multiple SclerosisA multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or mo Remazole Black Respiratory AllergyA respiratory allergy that triggered by remazole black-GR.REM Sleep Behavior DisorderA sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement.Renal AgenesisA renal disease that is characterized by the failure of one or both kidneys to develop.Renal Artery AtheromaAn atherosclerosis of the renal artery.Renal Artery StenosisNarrowing of the arteries that supply the kidneys.Renal CarcinomaA kidney cancer that arises from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products).Renal Cell CarcinomaThe most common type of kidney cancer.Renal Cell Carcinoma with MiT TranslocationsA renal cell carcinoma that is characterized by papillary, alveolar and nested growth patterns with clear and eosinophilic cells and that is associated with translocations/gene fusions involving members of the MiT family Renal Coloboma SyndromeA syndrome characterized by optic nerve coloboma and renal disease that is caused by heterozygous mutation in the PAX2 gene on chromosome 10q24.Renal Cysts and Diabetes SyndromeA maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that is caused by mutation in the HNF1B gene on chromosome 17q12.Renal FibrosisA kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.Renal GlycosuriaA renal tubular transport disease characterized by decreased renal tubular resorption of glucose from the urine in the absence of hyperglycemia and other signs of tubular dysfunction.Renal-Hepatic-Pancreatic DysplasiaA physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth.Renal Hypomagnesemia 2A hypomagnesemia characterized by autosomal dominant inheritance of hypomagnesemia due to renal magnesium loss that is caused by heterozygous mutation in the FXYD2 gene on chromosome 11q23.Renal Hypomagnesemia 3A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that is caused by homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28.Renal Hypomagnesemia 4A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that is caused by homozygous mutation in the EGF gene on chromosome 4q25.Renal Hypomagnesemia 5 with Ocular InvolvementA hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that is caused by homozygous mutation in the CLDN Renal Hypomagnesemia 6A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that is caused by heteroz Renal Hypomagnesemia 7, with or Without Dilated CardiomyopathyA hypomagnesemia characterized by renal salt wasting resulting in hypomagnesemia with secondary effects such as hypokalemia or hypocalcemia that is caused by heterozygous mutation in the RRAGD gene on chromosome 6q15.Renal HypoplasiaA kidney disease that is characterized by abnormally small kidneys with normal morphology and reduced number of nephrons.Renal Pelvis AdenocarcinomaA renal pelvis carcinoma that arises from epithelial cells of glandular origin.Renal Pelvis Squamous Cell CarcinomaA squamous cell carcinoma that is in the renal pelvis.Renal TuberculosisAn urogenital tuberculosis that causes formation of granulomas in kidney.Renal Tubular AcidosisA renal tubular transport disease characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis.RENI SyndromeA familial nephrotic syndrome that is caused by autosomal recessive inheritance of homozygous or compound heterozygous mutation in the sphingosine-1-phosphate lyase 1 (SGPL1) gene on chromosome 10q21.Renpenning SyndromeAn intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in ma ReNU SyndromeAn autosomal dominant intellectual developmental disorder characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to wal Reproductive Organ Benign NeoplasmAn organ system benign neoplasm that is in reproductive system organs.Reproductive Organ CancerAn organ system cancer that is manifested in the reproductive organs.Respiratory AllergyAn allergic disease that is in the respiratory tract.Respiratory FailureA lung disease characterized by inadequate gas exchange by the respiratory system.Respiratory Syncytial VirusA common respiratory virus that can be serious in infants and older adults.Respiratory System Benign NeoplasmAn organ system benign neoplasm that is located in the respiratory system which extends from the nasal sinuses to the diaphragm.Respiratory System CancerAn organ system cancer in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract.Restless Legs SyndromeAn uncontrollable urge to move the legs, often at night. Tracking your symptoms and connecting with others who understand can help you manage day to day.Restrictive CardiomyopathyA rare condition where the heart muscle stiffens.Restrictive DermopathyA skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intraut Restrictive Dermopathy 1A restrictive dermopathy that is caused by homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.Restrictive Dermopathy 2A restrictive dermopathy that is caused by heterozygous mutation in the LMNA gene on chromosome 1q22.Rete Ovarii AdenocarcinomaAn ovary adenocarcinoma that arises from the rete ovarii.Rete Ovarii AdenomaA rete ovarii benign neoplasm that arises from glandular epithelial cells.Rete Ovarii Benign NeoplasmA female reporoductive organ benign neoplasm that is in the rete ovarii.Rete Ovarii CystadenofibromaA rete ovarii benign neoplasm that is arises from epithelial and stromal cells.Rete Ovarii CystadenomaA rete ovarii adenoma that is characterized by the presence of cysts and/or cystic spaces.Rete Testis AdenocarcinomaA rete testis neoplasm that arises from epithelial cells of glandular origin.Rete Testis AdenomaA male reproductive organ benign neoplasm that derives from epithelial tissue in which tumor cells form glands or glandlike structures and that is in the rete testis.Reticular DysgenesisA severe combined immunodeficiency that is the most severe form of SCID and is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, an Reticulate Acropigmentation of KitamuraA pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and m Retinal Arterial TortuosityAn artery disease characterized by pronounced tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system that is caused by heterozygous mutation in the COL4A1 gene on chromo Retinal Cell CancerA malignant neoplasm that arises from the retina.Retinal Cone Dystrophy 1A cone dystrophy that is characterized as autosomal dominant form of diffuse cone degeneration.Retinal Cone Dystrophy 4A cone dystrophy that is caused by homozygous mutation in the CACNA2D4 gene on chromosome 12p13.Retinal DegenerationA retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.Retinal DetachmentThe retina pulls away from the back of the eye.Retinal DiseaseAn eye disease that is in the retina.Retinal Dystrophy with LeukodystrophyA peroxisomal disease that is characterized by a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism and that is caused by homozygous mutation in the ACBD5 gene on chromosome 10 Retinal IschemiaAn ischemia that is characterized by restriction in blood supply to the retina.Retinal Macular DystrophyA macular degeneration characterized by non-progression or slow progression and drusen-like deposits in varying degrees.Retinal Macular Dystrophy 2A retinal macular dystrophy characterized by slowly progressive ''bull's eye'' maculopathy, mild visual impairment, and central scotomata that is caused by heterozygous mutation in the PROM1 gene on chromosome 4p15.32.Retinal Macular Dystrophy 3A retinal macular dystrophy that is caused by variation in the chromosomal region 5p15.33-p13.1.Retinal Macular Dystrophy 4A retinal macular dystrophy characterized by late-onset macular degeneration, with multiple drusen-like deposits, macular geographic atrophy, and choroidal neovascularization that is caused by heterozygous mutation in th Retinal VasculitisA vasculitis that is characterized by inflammation of the vascular branches of the retinal artery and causes painless decrease of visual acuity, visual floaters, dark spot in vision, decreased ability to distinguish colo Retinal Vasculopathy with Cerebral LeukodystrophyA vascular disease characterized by adult onset of microvascular endotheliopathy resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline that is c Retinitis PigmentosaA group of inherited disorders causing gradual vision loss.Retinitis Pigmentosa 1A retinitis pigmentosa that is caused by mutation in the RP1 gene on chromosome 8q12.Retinitis Pigmentosa 10A retinitis pigmentosa that is caused by mutation in the IMPDH1 gene on chromosome 7q32.Retinitis Pigmentosa 100A retinitis pigmentosa characterized by the onset of night blindness in childhood or young adulthood, followed by progressive visual field constriction and that is caused by compound heterozygous mutation in the TBC1D32 Retinitis Pigmentosa 101A retinitis pigmentosa charaterized by macular edema, mild intraretinal pigment migration, and eventual widespread retinal atrophy that is caused by compound heterozygous or homozygous mutation in the CLN3 gene on chromo Retinitis Pigmentosa 102A retinitis pigmentosa that is charaterized by onset of night blindness and loss of peripheral vision in adolescence, and eventual reduction in visual acuity with progression of disease and that is caused by heterozygous Retinitis Pigmentosa 103A retinitis pigmentosa that is charaterized by onset of night blindness and/or loss of peripheral vision in adolescence and that is caused by heterozygous mutation in the RNU6-1 gene on chromosome 15q23.Retinitis Pigmentosa 104A retinitis pigmentosa that is charaterized by onset of night blindness and/or loss of peripheral vision in adolescence and that is caused by heterozygous mutation in the RNU6-2 gene on chromosome 19p13.Retinitis Pigmentosa 105A retinitis pigmentosa that is charaterized by onset of night blindness and/or loss of peripheral vision in adolescence and that is caused by heterozygous mutation in the RNU6-8 gene on chromosome 14q12.Retinitis Pigmentosa 106A retinitis pigmentosa that is charaterized by onset of night blindness and/or loss of peripheral vision in adolescence and that is caused by heterozygous mutation in the RNU6-9 gene on chromosome 19p13.Retinitis Pigmentosa 107A retinitis pigmentosa that is charaterized by onset of RP ranging from the second decade to the sixth decade of life, with affected individuals experiencing night blindness, constriction of peripheral vision, and reduce Retinitis Pigmentosa 108A retinitis pigmentosa that is characterized by onset of symptoms later in life (fourth to fifth decades) and that is caused by homozygous or compound heterozygous mutation in the SAXO6 gene on chromosome 12q15. Most aff Retinitis Pigmentosa 11A retinitis pigmentosa that is caused by mutation in the PRPF31 gene on chromosome 19q13.Retinitis Pigmentosa 12A retinitis pigmentosa that is caused by mutation in the CRB1 gene on chromosome 1q31.3.Retinitis Pigmentosa 13A retinitis pigmentosa that is caused by mutations in the PRPF8 gene on chromosome 17p13.3.Retinitis Pigmentosa 14A retinitis pigmentosa that is caused by mutation in the TULP1 gene on chromosome 6p21.Retinitis Pigmentosa 17A retinitis pigmentosa characterized by relatively mild disease, with decreased visual acuity, visual field constriction, nyctalopia, and slow progression that is caused by duplication or triplication in the chromosome 1 Retinitis Pigmentosa 18A retinitis pigmentosa that is caused by mutation in the PRPF3 gene on chromosome 1q21.Retinitis Pigmentosa 19A retinitis pigmentosa that is caused by mutation in the ABCA4 gene on chromosome 1p22.Retinitis Pigmentosa 2A retinitis pigmentosa that is caused by mutation in the RP2 gene on chromosome Xp11.3.Retinitis Pigmentosa 20A retinitis pigmentosa that is caused by mutation in the RPE65 gene on chromosome 1p31.Retinitis Pigmentosa 22A retinitis pigmentosa that is caused by variation in the chromosome region 16p12.3-p12.1.Retinitis Pigmentosa 23A retinitis pigmentosa that is caused by mutation in the OFD1 gene on chromosome Xp22.Retinitis Pigmentosa 24A retinitis pigmentosa that is caused by variation in the chromosome region Xq26-q27.Retinitis Pigmentosa 25A retinitis pigmentosa that is caused by mutation in the EYS gene on chromosome 6q12.Retinitis Pigmentosa 26A retinitis pigmentosa that is caused by mutation in the CERKL gene on chromosome 2q31.Retinitis Pigmentosa 27A retinitis pigmentosa that is caused by mutation in the NRL gene on chromosome 14q11.Retinitis Pigmentosa 28A retinitis pigmentosa that is caused by mutation in the FAM161A gene on chromosome 2p15.Retinitis Pigmentosa 29A retinitis pigmentosa that is caused by variation in the chromosome region 4q32-q34.Retinitis Pigmentosa 3A retinitis pigmentosa that is caused by mutation in the RPGR gene on chromosome Xp11.Retinitis Pigmentosa 30A retinitis pigmentosa that is caused by mutation in the FSCN2 gene on chromosome 17q25.Retinitis Pigmentosa 31A retinitis pigmentosa that is caused by mutation in the TOPORS gene on chromosome 9p21.Retinitis Pigmentosa 32A retinitis pigmentosa that is caused byhomozygous mutation in the CLCC1 gene on chromosome 1p13.Retinitis Pigmentosa 33A retinitis pigmentosa that is caused by mutation in the SNRNP200 gene on chromosome 2q11.Retinitis Pigmentosa 34A retinitis pigmentosa that is caused by variation in the chromosome region Xq28.Retinitis Pigmentosa 35A retinitis pigmentosa that is caused by mutation in the SEMA4A gene on chromosome 1q22.Retinitis Pigmentosa 36A retinitis pigmentosa that is caused by mutation in the PRCD gene on chromosome 17q25.Retinitis Pigmentosa 37A retinitis pigmentosa that is caused by mutation in the NR2E3 gene on chromosome 15q23.Retinitis Pigmentosa 38A retinitis pigmentosa that is caused by mutation in the MERTK gene on chromosome 2q13.Retinitis Pigmentosa 39A retinitis pigmentosa that is caused by mutation in the USH2A gene on chromosome 1q41.Retinitis Pigmentosa 4A retinitis pigmentosa that is caused by mutation in the RHO gene on chromosome 3q22.Retinitis Pigmentosa 40A retinitis pigmentosa that is caused by mutation in the PDE6B gene on chromosome 4p16.Retinitis Pigmentosa 41A retinitis pigmentosa that is caused by mutation in the PROM1 gene on chromosome 4p15.Retinitis Pigmentosa 42A retinitis pigmentosa that is caused by mutation in the KLHL7 gene on chromosome 7p15.3.Retinitis Pigmentosa 43A retinitis pigmentosa that is caused by mutation in the PDE6A gene on chromosome 5q31-q33.Retinitis Pigmentosa 44A retinitis pigmentosa that is caused by mutation in the RGR gene on chromosome 10q23.Retinitis Pigmentosa 45A retinitis pigmentosa that is caused by mutation in the CNGB1 gene on chromosome 16q13.Retinitis Pigmentosa 46A retinitis pigmentosa that is caused by mutation in the IDH3B gene on chromosome 20p13.Retinitis Pigmentosa 47A retinitis pigmentosa that is caused by mutation in the SAG gene on chromosome 2q37.Retinitis Pigmentosa 48A retinitis pigmentosa that is caused by mutation in the GUCA1B gene on chromosome 6p21.1.Retinitis Pigmentosa 49A retinitis pigmentosa that is caused by mutation in the CNGA1 gene on chromosome 4p12.Retinitis Pigmentosa 50A retinitis pigmentosa that is caused by mutation in the BEST1 gene on chromosome 11q13.Retinitis Pigmentosa 51A retinitis pigmentosa that is caused by mutation in the TTC8 gene on chromosome 14q31.Retinitis Pigmentosa 54A retinitis pigmentosa that is caused by mutation in the C2ORF71 gene on chromosome 2p23.Retinitis Pigmentosa 55A retinitis pigmentosa that is caused by mutation in the ARL6 gene on chromosome 3q11.2.Retinitis Pigmentosa 56A retinitis pigmentosa that is caused by mutation in the IMPG2 gene on chromosome 3q12.3.Retinitis Pigmentosa 57A retinitis pigmentosa that is caused by mutation in the PDE6G gene on chromosome 17q25.3.Retinitis Pigmentosa 58A retinitis pigmentosa that is caused by mutation in the ZNF513 gene on chromosome 2p23.Retinitis Pigmentosa 59A retinitis pigmentosa that is caused by mutation in the DHDDS gene on chromosome 1p36.11.Retinitis Pigmentosa 6A retinitis pigmentosa that is caused by variation in the chromosome region Xp21.3-p21.2.Retinitis Pigmentosa 60A retinitis pigmentosa that is caused by mutation in the PRPF6 gene on chromosome 20q13.33.Retinitis Pigmentosa 61A retinitis pigmentosa that is caused by mutation in the CLRN1 gene on chromosome 3q25.Retinitis Pigmentosa 62A retinitis pigmentosa that is caused by mutation in the MAK gene on chromosome 6p24.2.Retinitis Pigmentosa 63A retinitis pigmentosa that is caused by variation in the chromosome region 6q23.Retinitis Pigmentosa 66A retinitis pigmentosa that is caused by mutation in the RBP3 gene on chromosome 10q11.Retinitis Pigmentosa 67A retinitis pigmentosa that is caused by mutation in the NEK2 gene on chromosome 1q32.Retinitis Pigmentosa 68A retinitis pigmentosa that is caused by mutation in the SLC7A14 gene on chromosome 3q26.Retinitis Pigmentosa 69A retinitis pigmentosa that is caused by mutation in the KIZ gene on chromosome 20p11.Retinitis Pigmentosa 7A retinitis pigmentosa that is caused by mutation in the PRPH2 gene on chromosome 6p21.Retinitis Pigmentosa 70A retinitis pigmentosa that is caused by mutation in the PRPF4 gene on chromosome 9q32.Retinitis Pigmentosa 71A retinitis pigmentosa that is caused by mutation in the IFT172 gene on chromosome 2p23.Retinitis Pigmentosa 72A retinitis pigmentosa that is caused by mutation in the ZNF408 gene on chromosome 11p11.Retinitis Pigmentosa 73A retinitis pigmentosa that is caused by mutation in the HGSNAT gene on chromosome 8p11.Retinitis Pigmentosa 74A retinitis pigmentosa that is caused by mutation in the BBS2 gene on chromosome 16q13.Retinitis Pigmentosa 75A retinitis pigmentosa that is caused by mutation in the AGBL5 gene on chromosome 2p23.Retinitis Pigmentosa 76A retinitis pigmentosa that is caused by homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.Retinitis Pigmentosa 77A retinitis pigmentosa that is caused by mutation in the REEP6 gene on chromosome 19p13.Retinitis Pigmentosa 78A retinitis pigmentosa characterized by central visual disturbance, visual field defects, and nyctalopia that is caused by homozygous or compound heterozygous mutation in the ARHGEF18 gene on chromosome 19p13.Retinitis Pigmentosa 79A retinitis pigmentosa that is caused by heterozygous mutation in the HK1 gene on chromosome 10q22.Retinitis Pigmentosa 80A retinitis pigmentosa that is caused by homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.Retinitis Pigmentosa 81A retinitis pigmentosa that is caused by homozygous mutation in the IFT43 gene on chromosome 14q24.Retinitis Pigmentosa 83A retinitis pigmentosa characterized by onset of night blindness in the first decade of life, decreased central vision in the second decade of life, and retinal degeneration that is caused by heterozygous mutation in ARL Retinitis Pigmentosa 84A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that is caused by homozygous or compound heterozygous mutation in the DHX38 gene on chr Retinitis Pigmentosa 85A retinitis pigmentosa that is caused by homozygous or compound heterozygous mutation in AHR on chromosome 7p21.1.Retinitis Pigmentosa 86A retinitis pigmentosa characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity that is caused by mutation in the KIAA1549 gene on chromosome 7q34.Retinitis Pigmentosa 87A retinitis pigmentosa characterized by slowly progressive visual disturbance and extensive choroid/retinal atrophy that is caused by heterozygous mutation in the RPE65 gene on chromosome 1p31.3.Retinitis Pigmentosa 88A retinitis pigmentosa characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity that is caused by homozygous or compound heterozygous mutation in the RP1L1 gene on Retinitis Pigmentosa 89A retinitis pigmentosa characterized by onset of retinitis pigmentosa in the first decade of life and additional features of ciliopathy that is caused by heterozygous mutation in the KIF3B gene on chromosome 20q11.21.Retinitis Pigmentosa 9A retinitis pigmentosa that is caused by mutation in the RP9 gene on chromosome 7p14.Retinitis Pigmentosa 90A retinitis pigmentosa characterized by onset in the first decade of life of night blindness that is caused by homozygous or compound heterozygous mutation in the IDH3A gene on chromosome 15q25.1.Retinitis Pigmentosa 91A retinitis pigmentosa characterized by night blindness and constriction of visual fields, with bone-spicule pigmentation, attenuation of retinal vessels, and optic disc pallor on funduscopy that is caused by heterozygou Retinitis Pigmentosa 92A retinitis pigmentosa characterized by relatively mild disease, with onset of night blindness and vision loss in the third to sixth decades of life that is caused by homozygous mutation in the HKDC1 gene on chromosome 1 Retinitis Pigmentosa 93A retinitis pigmentosa characterized by mild to moderate rod-cone dystrophy with onset in the second or third decade of life. Patients have constricted visual fields with macular sparing and show mildly reduced visual ac Retinitis Pigmentosa 95A retinitis pigmentosa characterized by pale optic discs, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation that is caused by homozygous or compound heterozygous Retinitis Pigmentosa 96A retinitis pigmentosa characterized by difficulty with night vision and progressive visual field constriction beginning as early as the third decade of life, but most patients retain good visual acuity into the seventh Retinitis Pigmentosa 97A retinitis pigmentosa characterized by onset of night blindness and visual field defects in the first decade of life, with later onset of reduced visual acuity that is caused by heterozygous mutation in the VWA8 gene on Retinitis Pigmentosa 98A retinitis pigmentosa characterized by onset of night blindness in early childhood, with gradual loss of peripheral vision and later of central vision that is caused by homozygous or compound heterozygous mutation in th Retinitis Pigmentosa 99A retinitis pigmentosa that is caused by mutation in the RLBP1 gene on chromosome 15q26.1.Retinitis Pigmentosa-Deafness SyndromeAn Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that is caused by mutation in the MTTS2 gene in the mitochondrial genome.Retinitis Pigmentosa with or Without Situs InversusA retinitis pigmentosa that is caused by mutation in the ARL2BP gene on chromosome 16q13.Retinitis Pigmentosa Y-LinkedA retinitis pigmentosa that is caused by variation on the Y chromosome.RetinoblastomaA rare eye cancer that usually affects young children.Retinopathy Sensory Neuropathy SyndromeA syndrome characterized by progressive visual impairment due to retinopathy (usually retinitis pigmentosa) and progressive sensory neuropathy resulting in distal sensory loss of various modalities (vibration, propriocep Retrocalcaneal BursitisA bursitis that is characterized by an inflammation of the bursa, a fluid-filled sac that cushions the Achilles tendon where it attaches to the heel bone (calcaneus).Retrograde AmnesiaAn amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection.Retroperitoneal CancerA thoracic cancer in the retroperitoneal space in the abdominal cavity behind the peritoneum.Retroperitoneal NeuroblastomaA retroperitoneal cancer that is caused by immature nerve cells.Retroperitoneal SarcomaA malignant retroperitoneal cancer and sarcoma that is in the retroperitoneal space.Rett SyndromeA rare genetic disorder affecting brain development in girls.Revesz SyndromeA dyskeratosis congenita that is caused by a mutation of the TINF2 gene on chromosome 14q12.Reye SyndromeA syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use.Rhabdoid CancerA childhood kidney neoplasm that is in the kidney, liver, muscle, heart, lung, soft tissues, skin and central nervous system.Rhabdoid Tumor Predisposition SyndromeA syndrome characterized by a markedly increased risk for the development of rhabdoid tumors, rare and highly aggressive malignant tumors occurring in almost any anatomical location predominantly in infants and young chi Rhabdoid Tumor Predisposition Syndrome 1A rhabdoid tumor predisposition syndrome that is caused by heterozygous germline mutation in the SMARCB1 gene on chromosome 22q11.Rhabdoid Tumor Predisposition Syndrome 2A rhabdoid tumor predisposition syndrome that is caused by heterozygous germline mutation in the SMARCA4 gene on chromosome 19p13.RhabdomyolysisRapid muscle breakdown that can damage the kidneys.Rhabdomyolysis-Myalgia SyndromeA myopathy that is characterized by muscle breakdown (rhabdomyolysis), heat and exertion-related muscle pain (myalgia) and cramping symptoms, severe muscle pain, sudden elevation and subsequent fall of serum creatine pho RhabdomyosarcomaA cancer of skeletal muscle, mostly in children.Rh Deficiency SyndromeA hemolytic anemia that is characterized by deficiency of Rh antigens, is caused by homozygous or compound heterozygous mutation in the RHAG gene on chromosome 6p12.Rheumatic DiseaseA musculoskeletal system disease that involves inflammation or pain in the muscles, joints, or fibrous tissue.Rheumatic FeverA connective tissue disease that develops from an antecedent Group A Streptococcal pharyngeal infection and causes carditis, causes polyarthritis, causes chorea, causes erythema marginatum, causes subcutaneous nodules, c Rheumatic Heart DiseaseHeart valve damage from untreated strep infections.Rheumatoid ArthritisThe immune system attacks joints, causing pain and swelling. Tracking your symptoms and connecting with others who understand can help you manage day to day.Rheumatoid Arthritis Interstitial Lung DiseaseAn interstitial lung disease that is characterized by the development of pleuroparenchymal disease secondary to rheumatoid arthritis, including pleural effusions, pleural fibrosis, pulmonary vascular disease, and airway RhinitisA upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of m RhinoscleromaA primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the RhinosporidiosisA parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the Rhizomelic Chondrodysplasia PunctataA chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, hig Rhizomelic Chondrodysplasia Punctata Type 1A rhizomelic chondrodysplasia punctata that is caused by autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3.Rhizomelic Chondrodysplasia Punctata Type 2A rhizomelic chondrodysplasia punctata that is caused by autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2.Rhizomelic Chondrodysplasia Punctata Type 3A rhizomelic chondrodysplasia punctata that is caused by autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2.Rhizomelic Chondrodysplasia Punctata Type 5A rhizomelic chondrodysplasia punctata that is caused by autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31.Rhizomelic Chondrodysplasia Punctate Type 4A rhizomelic chondrodysplasia punctate that is caused by homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causi Riboflavin DeficiencyA nutritional deficiency disease that is characterized by stomatitis, cheilosis, glossitis, conjunctivitis, and anemia, develops from vitamin B2 (riboflavin) deficiency, causes red chapped lips, painful swollen tongue, s RicketsA bone remodeling disease that is caused by impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which causes softening RickettsialpoxA spotted fever that is caused by Rickettsia akari, which is transmitted by house mouse mite (Liponyssoides sanguineus) found on mice and other rodents. The infection causes fever, causes chills, causes headache, causes Rickettsia Parkeri Spotted FeverA spotted fever that is caused by Rickettsia parkeri, which is transmitted by Gulf Coast tick (Amblyomma maculatum). The infection causes fever, causes headache, causes eschar, and causes rash.RIDDLE SyndromeA syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that is caused by homozygous or compound heterozy Rift Valley FeverA viral infectious disease that causes infection, is caused by Rift Valley fever virus (Phlebovirus riftense), which is transmitted by Aedes mosquitoes. The virus affects domestic animals (cattle, buffalo, sheep, goats,Right Atrial IsomerismA visceral heterotaxy that is characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the gr Rigid Spine Muscular Dystrophy 1A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early mar Ring Chromosome 14 SyndromeA ring chromosome syndrome characterized by early-onset epilepsy, developmental delay with mental retardation and poor speech, microcephaly, and dysmorphic facial features that is caused by chromosome 14 fusion into a ri Ring Chromosome 20 SyndromeA ring chromosome syndrome characterized by recognizable epileptic phenotype with typical EEG pattern, intellectual disability manifesting after seizure onset in otherwise normally developing children, and behavioral cha Ring Chromosome SyndromeA chromosomal disease that is caused by chromosome fusion into a ring or ring-like structure. Ring chromosome syndrome phenotypes are inherently variable.Ring Corneal UlcerA corneal ulcer that is characterized by a ring of infiltration and/or ulceration that forms on the cornea.Ring Dermoid of CorneaA corneal disease characterized by annular limbal dermoids with corneal and conjunctival extension that is caused by heterozygous mutation in the PITX2 gene on chromosome 4q25.RingwormA fungal infection that forms a ring-shaped rash.Rippling Muscle Disease 1A muscle tissue disease characterized by electrically silent contractions of the skeletal muscles in response to mechanical stimuli. It is caused by mutation in the gene localized to 1q41 at the distal end of the long ar Rippling Muscle Disease 2A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that is caused by mutation in the caveolin-3 gene (CAV3) on chromosome 3p25.Ritscher-Schinzel SyndromeA syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fa Ritscher-Schinzel Syndrome 1A Ritscher-Schinzel syndrome that is caused by homozygous mutation in the KIAA0196 gene on chromosome 8q24.Ritscher-Schinzel Syndrome 2A Ritscher-Schinzel syndrome that is caused by mutation in the CCDC22 gene on chromosome Xp11.Ritter'S DiseaseA commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The inf RNASET2-Deficient Cystic LeukoencephalopathyA leukodystrophy that is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment.Roberts SyndromeA syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that is caused by homozygous or compound heterozygous mutation in the Robinow SyndromeA syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities.Rocky Mountain Spotted FeverA spotted fever that is caused by Rickettsia rickettsii, which is transmitted by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection causes fever, causes headache, causes abdominal pain, and causes ma Rocuronium AllergyA drug allergy that triggered by rocuronium.Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp SyndromeAn infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that is caused by homozygous or compound heterozygous mutation in the TBC1D24 gene on chr RosaceaRedness and visible blood vessels on the face. Tracking your symptoms and connecting with others who understand can help you manage day to day.Rosette-Forming Glioneuronal TumorA central nervous system benign neoplasm that is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers.Ross River FeverA viral infectious disease that causes infection in joint, is caused by Ross River virus (Alphavirus rossriver), which is transmitted by Culex, and transmitted by Aedes mosquitoes. The infection causes fever, causes arth Rotator Cuff InjuryTear or inflammation of the shoulder's rotator cuff.RotavirusA virus causing severe diarrhea in infants and children.Rothmund-Thomson SyndromeA skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that is caused by homozygous or compound heterozygous mutation in th Round Cell Sarcoma with EWSR1-NFATC2 Gene FusionA round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-NFATC2 gene fusion.Round Cell Sarcoma with EWSR1-Non-ETS FusionA small cell sarcoma that is characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family.Round Cell Sarcoma with EWSR1-PATZ1 Gene FusionA round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-PATZ1 gene fusion.Round Cell Sarcoma with FUS-NFATC2 Gene FusionA round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion.Round Ligament Malignant NeoplasmA uterine adnexa cancer that is in the round ligament.RubellaA mild viral infection that's dangerous during pregnancy.Rubinstein-Taybi SyndromeA syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes.Ruijs-Aalfs SyndromeA syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that is caused by homozygous or compound heterozygous mutation in SPRTN on 1q42.2.Rumination DisorderAn eating disorder that is characterized by effortless regurgitation of most meals following consumption.

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