R | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

• R1 - See Ring chromosome 1
• R10 - See Ring chromosome 10
• R11 - See Ring chromosome 11
• R12 - See Ring chromosome 12
• R13 - See Ring chromosome 13
• R15 - See Ring chromosome 15
• R16 - See Ring chromosome 16
• R17 - See Ring chromosome 17
• R18 - See Ring chromosome 18
• R19 - See Ring chromosome 19
• R2 - See Ring chromosome 2
• R20 - See Ring chromosome 20
• R21 - See Ring chromosome 21
• R22 - See Ring chromosome 22
• R3 - See Ring chromosome 3
• R4 - See Ring chromosome 4
• R5 - See Ring chromosome 5
• R6 - See Ring chromosome 6
• R7 - See Ring chromosome 7
• R8 - See Ring chromosome 8
• R9 - See Ring chromosome 9
• Rabbit fever - See Tularemia
• Rabies
• Rabson-Mendenhall syndrome
• Rachischisis - See Spina bifida
• Radial and patellar aplasia - See Rapadilino syndrome
• Radial and patellar hypoplasia - See Rapadilino syndrome
• Radial aplasia, X-linked - See Radius absent anogenital anomalies
• Radial defect Robin sequence
• Radial ray agenesis
• Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia - See IVIC syndrome
• Radial ray hypoplasia and choanal atresia - See Radial ray hypoplasia choanal atresia
• Radial ray hypoplasia choanal atresia
• Radial-ulnar hypoplasia with bone marrow failure and/or leukemia - See WT limb blood syndrome
• Radial-ulnar synostosis - See Congenital radioulnar synostosis
• Radiation induced angiosarcoma of the breast
• Radiation induced brachial neuritis - See Radiation induced brachial plexopathy
• Radiation induced brachial plexopathy
• Radiation induced cancer
• Radiation induced meningioma
• Radiation injury to the brachial plexus - See Radiation induced brachial plexopathy
• Radiation related cancer - See Radiation induced cancer
• Radicular dentin dysplasia - See Dentin dysplasia, type 1
• Radio renal syndrome
• Radio-renal syndrome - See Radio renal syndrome
• Radioulnar synostosis - See Congenital radioulnar synostosis
• Radio-ulnar synostosis - See Congenital radioulnar synostosis
• Radioulnar synostosis and a typical rhomboid shape of the tibia and fibula - See Nievergelt syndrome
• Radio-ulnar synostosis type 1 - See Congenital radioulnar synostosis
• Radio-ulnar synostosis type 2 - See Congenital radioulnar synostosis
• Radioulnar synostosis-microcephaly-scoliosis syndrome
• Radius absent anogenital anomalies
• RAE - See Reactive angioendotheliomatosis
• RAEB - See Myelodysplastic Syndrome With Excess Blasts
• RAF1 gene related Noonan syndrome - See Noonan syndrome
• Ragpicker's disease - See Anthrax
• Rahman syndrome
• Raine syndrome
• Rambam-Hasharon syndrome - See SLC35C1-CDG (CDG-IIc)
• Ramer Ladda syndrome
• Ramon Syndrome
• Ramos Arroyo Clark syndrome
• Ramos-Arroyo syndrome - See Ramos Arroyo Clark syndrome
• Ramsay Hunt cerebellar syndrome - See Dyssynergia cerebellaris myoclonica
• Ramsay Hunt syndrome - See Herpes zoster oticus
• Ramsay Hunt syndrome type 1 (formerly) - See Dyssynergia cerebellaris myoclonica
• Ramsay Hunt syndrome type 2 (formerly) - See Herpes zoster oticus
• RAMSVPS - See Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
• Rapadilino syndrome
• Raphe, supraumbilical midline, with cavernous facial hemangiomas - See Supraumbilical midabdominal raphe and facial cavernous hemangiomas
• Rapidly progressive glomerulonephritis with pulmonary hemorrhage - See Goodpasture syndrome
• Rapid-onset dystonia-parkinsonism
• Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation - See ROHHAD
• Rare adenocarcinoma of the breast
• Rare bone tumor - See Primary bone cancer
• Rare form of Hirschsprung's disease - See Aganglionosis, total intestinal
• Rare intellectual disability without developmental anomaly
• Rare lichen planus
• Rare LP - See Rare lichen planus
• Rare non-syndromic intellectual deficiency - Another name for Rare intellectual disability without developmental anomaly
• Rare non-syndromic intellectual disability - Another name for Rare intellectual disability without developmental anomaly
• Rare NSID - Another name for Rare intellectual disability without developmental anomaly
• Rare tumor of cranial and spinal nerves - See Tumor of cranial and spinal nerves
• Rare tumor of liver and intrahepatic biliary tract - See Primary liver cancer
• RARS - See Sideroblastic anemia pyridoxine-refractory autosomal recessive
• Rasmussen encephalitis
• Rasmussen Johnsen Thomsen syndrome
• Rasmussen syndrome - See Rasmussen Johnsen Thomsen syndrome
• Rat bite fever
• Rathburn disease - See Hypophosphatasia
• Rathke's pouch tumor - See Craniopharyngioma
• RB - See Retinoblastoma
• RBCD - See Corneal dystrophy of Bowman layer type 1
• RBS - See Roberts syndrome
• RCAD - See Maturity-onset diabetes of the young
• RCC4 - See Renal cell carcinoma 4
• RCCP - See Papillary renal cell carcinoma
• RCD1 - See Retinal cone dystrophy 1
• RCD2 - See Retinal cone dystrophy 2
• RCD3A - See Retinal cone dystrophy 3A
• RCD3B - See Retinal cone dystrophy 3B
• RCD4 - See Retinal cone dystrophy 4
• RCDP - See Rhizomelic chondrodysplasia punctata
• RCDP1 - See Rhizomelic chondrodysplasia punctata type 1
• RCDP2 - See Rhizomelic chondrodysplasia punctata
• RCDP3 - See Rhizomelic chondrodysplasia punctata
• RCL - See Abdominal cystic lymphangioma
• RCRD2 - See Cone-rod dystrophy 2
• RCUD - See Refractory cytopenia with unilineage dysplasia
• RCVS - See Reversible cerebral vasoconstriction syndrome
• RD - See Reticular dysgenesis
• RDC - See Ring dermoid of cornea
• RDD - See Rosai-Dorfman disease
• RDEB generalisata gravis - See Severe generalized recessive dystrophic epidermolysis bullosa
• RDEB generalisata mitis - See Recessive dystrophic epidermolysis bullosa-generalized other
• RDEB, generalized intermediate - See Recessive dystrophic epidermolysis bullosa-generalized other
• RDEB, Hallopeau-Siemens type - See Severe generalized recessive dystrophic epidermolysis bullosa
• RDEB, non-Hallopeau-Siemens type - See Recessive dystrophic epidermolysis bullosa-generalized other
• RDEB, severe generalized - See Severe generalized recessive dystrophic epidermolysis bullosa
• RDEB-generalized other - See Recessive dystrophic epidermolysis bullosa-generalized other
• RDEB-O - See Recessive dystrophic epidermolysis bullosa-generalized other
• RDEB-sev gen - See Severe generalized recessive dystrophic epidermolysis bullosa
• RDP - See Rapid-onset dystonia-parkinsonism
• RDPA - See Refsum disease with increased pipecolic acidemia
• RDS - infants - See Respiratory distress syndrome, infant
• RE - See Rasmussen encephalitis
• Reactive angioendotheliomatosis
• Reactive arthritis
• REAR syndrome - See Townes-Brocks syndrome
• Reardon Wilson Cavanagh syndrome
• Reardon-Hall-Slaney syndrome - See Mesomelic dwarfism cleft palate camptodactyly
• Rec8 syndrome - See Recombinant chromosome 8 syndrome
• Recessive aplasia cutis congenita of the limbs - See Aplasia cutis congenita of limbs recessive
• Recessive ataxia of Beauce - See Spinocerebellar ataxia autosomal recessive 8
• Recessive dystrophic epidermolysis bullosa - See Dystrophic epidermolysis bullosa
• Recessive dystrophic epidermolysis bullosa, generalized intermediate - See Recessive dystrophic epidermolysis bullosa-generalized other
• Recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type - See Recessive dystrophic epidermolysis bullosa-generalized other
• Recessive dystrophic epidermolysis bullosa, severe generalized - See Severe generalized recessive dystrophic epidermolysis bullosa
• Recessive dystrophic epidermolysis bullosa-generalized other
• Recessive microcephaly with spastic quadriplegia - See Microcephaly with spastic quadriplegia
• Recessive pseudoachondroplasia - See Pseudoachondroplastic dysplasia 2
• Recessive spastic paraplegia with retinal degeneration - See Spastic paraplegia 15
• Recklinghausen's disease - See Neurofibromatosis type 1
• Recombinant chromosome 8 syndrome
• Rectal cancer, childhood
• Recurrent acute necrotizing encephalopathy - See Infection-induced acute encephalopathy 3
• Recurrent duplication of 17q12 - See 17q12 duplication
• Recurrent encephalophathy of childhood - See Encephalopathy recurrent of childhood
• Recurrent familial intrahepatic cholestasis 1 - See Benign recurrent intrahepatic cholestasis 1
• Recurrent familial intrahepatic cholestasis 2 - See Benign recurrent intrahepatic cholestasis 2
• Recurrent hydatidiform mole
• Recurrent infection due to specific granule deficiency - See Neutrophil-specific granule deficiency
• Recurrent intrahepatic cholestasis of pregnancy - See Intrahepatic cholestasis of pregnancy
• Recurrent laryngeal papillomatosis (subtype) - See Laryngeal papillomatosis
• Recurrent meningitis - See Mollaret meningitis
• Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome - See TANGO2-Related Metabolic Encephalopathy and Arrhythmias
• Recurrent peripheral facial palsy
• Recurrent polychondritis - See Relapsing polychondritis
• Recurrent polyserositis - See Familial Mediterranean fever
• Recurrent respiratory papillomatosis
• Recurrent Scarring Aphthae - See Sutton disease 2
• Recurrent spontaneous hypothermia with hypoplasia of the corpus callosum - See Shapiro syndrome
• Recurrent trigger thumb (type) - See Trigger thumb
• Red cell aldolase deficiency - See Glycogen storage disease type 12
• Red cell aplasia, pure hereditary - See Diamond-Blackfan anemia
• Red cell phospholipid defect with hemolysis
• Red skin pigment anomaly of New Guinea
• Red skin pigment, New Guinea type - See Red skin pigment anomaly of New Guinea
• Reducing body myopathy
• Reed's syndrome - See Hereditary leiomyomatosis and renal cell cancer
• Reese retinal dysplasia
• Refetoff syndrome - See Generalized resistance to thyroid hormone
• Reflex sympathetic dystrophy - See Complex regional pain syndrome
• Refractory anemia with excess blasts - See Myelodysplastic Syndrome With Excess Blasts
• Refractory anemia with ringed sideroblasts - See Sideroblastic anemia pyridoxine-refractory autosomal recessive
• Refractory cytopenia with unilineage dysplasia
• Refractory macrocytic anemia due to 5q deletion - See 5q- syndrome
• Refrigeration palsy - See Bell's palsy
• Refsum disease
• Refsum disease with increased pipecolic acidemia
• Refsum disease, infantile form
• Regional choroidal atrophy and alopecia - See Moloney syndrome
• Regressive metaphyseal dysplasia - See Metaphyseal anadysplasia
• Reifenstein syndrome, partial - See Partial androgen insensitivity syndrome
• Reis Bucklers corneal dystrophy - See Corneal dystrophy of Bowman layer type 1
• Reis Bucklers dystrophy - See Corneal dystrophy of Bowman layer type 1
• Reiter syndrome - See Reactive arthritis
• Reiter's syndrome - See Reactive arthritis
• Relapsing polychondritis
• Remitting seronegative symmetrical synovitis with pitting edema
• Remnant removal disease - See Hyperlipidemia type 3
• Renal adenocarcinoma - See Papillary renal cell carcinoma
• Renal agenesis
• Renal and anogenital malformations with syndactyly - See Green Sandford Davison syndrome
• Renal and craniofacial anomalies with persistence of mullerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly - See Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly
• Renal caliceal diverticuli deafness
• Renal Cell Adenocarcinoma - See Renal cell carcinoma
• Renal cell carcinoma
• Renal cell carcinoma 4
• Renal collecting duct carcinoma - See Collecting duct carcinoma
• Renal coloboma syndrome
• Renal cysts and diabetes - See Hepatocyte nuclear factor 1ß (HNF1ß)–associated disease
• Renal cysts and diabetes syndrome - See Maturity-onset diabetes of the young
• Renal dysplasia diffuse cystic
• Renal dysplasia limb defects syndrome - See Renal dysplasia-limb defects syndrome
• Renal dysplasia or hydronephrosis, oligohydramnios and subsequent lung hypoplasia due to urethral obstruction - SeeUrethral obstruction sequence
• Renal dysplasia retinal aplasia - See Senior Loken Syndrome
• Renal dysplasia, megalocystis, and sirenomelia - See Selig Benacerraf Greene syndrome
• Renal dysplasia, mesomelia, and radiohumeral fusion - See Renal dysplasia-limb defects syndrome
• Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
• Renal dysplasia-limb defects syndrome
• Renal failure and sensorineural hearing loss - See Autosomal dominant Alport syndrome
• Renal Fanconi syndrome with nephrocalcinosis and renal stones - See Dent disease
• Renal genital middle ear anomalies
• Renal glucosuria - See Renal glycosuria
• Renal glycosuria
• Renal hamartomas, nephroblastomatosis, and fetal gigantism - See Perlman syndrome
• Renal histidinuria - See Histidinuria renal tubular defect
• Renal hypomagnesemia 2
• Renal hypomagnesemia type 2 - See Renal hypomagnesemia 2
• Renal hypomagnesemia-6
• Renal hypouricemia
• Renal medullary carcinoma
• Renal nutcracker syndrome
• Renal oncocytoma
• Renal pelvis and ureter, transitional cell cancer - See Transitional cell cancer of the renal pelvis and ureter
• Renal PHA1 - See Autosomal dominant pseudohypoaldosteronism type 1
• Renal pseudohypoaldosteronism type 1 - See Autosomal dominant pseudohypoaldosteronism type 1
• Renal rickets
• Renal tubular acidosis
• Renal tubular acidosis 1 - See Renal tubular acidosis, distal, autosomal dominant
• Renal tubular acidosis progressive nerve deafness - See Renal tubular acidosis with deafness
• Renal tubular acidosis type 1b - See Renal tubular acidosis with deafness
• Renal tubular acidosis type I - See SLC4A1-associated distal renal tubular acidosis
• Renal tubular acidosis with deafness
• Renal tubular acidosis with progressive nerve deafness - See Renal tubular acidosis with deafness
• Renal tubular acidosis, autosomal recessive with preserved hearing - See Autosomal recessive distal renal tubular acidosis
• Renal tubular acidosis, autosomal recessive, with progressive nerve deafness - See Renal tubular acidosis with deafness
• Renal tubular acidosis, distal, autosomal dominant
• RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, WITH LATE-ONSET SENSORINEURAL HEARING LOSS, INCLUDED - See Autosomal recessive distal renal tubular acidosis
• Renal tubular acidosis, distal, type 3
• RENAL TUBULAR ACIDOSIS, DISTAL, WITH NORMAL RED CELL MORPHOLOGY, INCLUDED - See Distal renal tubular acidosis with hemolytic anemia
• Renal tubular acidosis, distal, with progressive nerve deafness - See Renal tubular acidosis with deafness
• Renal tubular dysgenesis
• Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA
• Renal-ear-anal-radial syndrome - See Townes-Brocks syndrome
• Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome - See Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia
• Renal-retinal syndrome - See Senior Loken Syndrome
• REN-associated familial juvenile hyperuricemic nephropathy - See Autosomal dominant tubulointerstitial kidney disease due to REN mutations
• REN-associated FJHN - See Autosomal dominant tubulointerstitial kidney disease due to REN mutations
• REN-associated kidney disease - See Autosomal dominant tubulointerstitial kidney disease due to REN mutations
• REN-associated kidney disease) - See Autosomal dominant tubulointerstitial kidney disease due to REN mutations
• Rendu-Osler-Weber disease - See Hereditary hemorrhagic telangiectasia
• Renier Gabreels Jasper syndrome
• Renoprival hypertension
• Renpenning syndrome 1
• RENS1 - See Renpenning syndrome 1
• Resistance to thyroid stimulating hormone - See Familial hyperthyroidism due to mutations in TSH receptor
• Respiratory distress syndrome, adult - See Acute respiratory distress syndrome
• Respiratory distress syndrome, infant
• Respiratory papillomatosis, recurrent - See Recurrent respiratory papillomatosis
• Restless leg syndrome - See Restless legs syndrome - not a rare disease
• Restless legs syndrome - not a rare disease
• Restless legs syndrome, susceptibility to, 1 - See Restless legs syndrome
• Restless legs syndrome, susceptibility to, 2 - See Restless legs syndrome
• Restless legs syndrome, susceptibility to, 3 - See Restless legs syndrome
• Restless legs syndrome, susceptibility to, 4 - See Restless legs syndrome
• Restless legs syndrome, susceptibility to, 5 - See Restless legs syndrome
• Restless legs syndrome, susceptibility to, 6 - See Restless legs syndrome
• Restrictive dermopathy, lethal - See Tight skin contracture syndrome, lethal
• Retarded growth, hydrocephalus, micrognathia, intestinal malrotation, omphalocele, short lower limbs and foot deformities - See Game Friedman Paradice syndrome
• Retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body - See Sitosterolemia
• Reticular dysgenesis
• Reticular pigment anomaly of flexures - See Dowling-Degos disease
• Reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy - SeeNaegeli syndrome
• Reticulate acropigmentation of Dohi - See Dyschromatosis symmetrica hereditaria 1
• Reticulate acropigmentation of Kitamura - See Dowling-Degos disease
• Reticulate hyperpigmentation of Iijima - See Linear and whorled nevoid hypermelanosis
• Reticuloendotheliosis
• Reticuloendotheliosis familial with eosinophilia - See Omenn syndrome
• Reticuloendotheliosis, X-linked - See Reticuloendotheliosis
• Reticulohistiocytoma
• Retinal arterial macroaneurysm and supravalvular pulmonic stenosis - See Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
• Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
• Retinal blindness, congenital - See Leber congenital amaurosis
• Retinal cancer - See Retinoblastoma
• Retinal Coloboma - See Retinochoroidal coloboma
• Retinal cone dystrophy 1
• Retinal cone dystrophy 2
• Retinal cone dystrophy 3A
• Retinal cone dystrophy 3B
• Retinal cone dystrophy 4
• Retinal cone-rod dystrophy 2 - See Cone-rod dystrophy 2
• Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma
• Retinal degeneration, autosomal recessive, prominin-related - See Retinitis pigmentosa
• Retinal degeneration, late-onset, autosomal dominant - See Late-onset retinal degeneration
• Retinal degeneration, nanophthalmos, glaucoma - See Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma
• Retinal detachment-occipital encephalocele syndrome - See Knobloch syndrome
• Retinal dysplasia X-linked
• Retinal pigment epithelial dystrophy central - See North Carolina macular dystrophy
• Retinal pigmentary degeneration, microcephaly, and severe mental retardation - See Retinopathy pigmentary mental retardation
• Retinal telangiectasia associated with hypogammaglobulinemia - See Frenkel Russe syndrome
• Retinal telangiectasis - See Coats disease
• Retinal tumor - See Retinoblastoma
• Retinal vasculopathy and cerebral leukoencephalopathy - See Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
• Retinal vasculopathy and cerebral leukoencephalopathy - See Retinal vasculopathy with cerebral leukodystrophy
• Retinal vasculopathy with cerebral leukodystrophy
• Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations - See Retinal vasculopathy with cerebral leukodystrophy
• Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations - See Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
• Retinitis pigmentosa
• Retinitis pigmentosa 1 - See Retinitis pigmentosa
• Retinitis Pigmentosa 11 - See Retinitis pigmentosa
• Retinitis pigmentosa 12 - See Retinitis pigmentosa
• Retinitis Pigmentosa 13 - See Retinitis pigmentosa
• Retinitis Pigmentosa 14 - See Retinitis pigmentosa
• Retinitis Pigmentosa 15 - See Retinitis pigmentosa
• Retinitis Pigmentosa 17 - See Retinitis pigmentosa
• Retinitis Pigmentosa 18 - See Retinitis pigmentosa
• Retinitis Pigmentosa 19 - See Retinitis pigmentosa
• Retinitis pigmentosa 2, X-linked - See Retinitis pigmentosa
• Retinitis Pigmentosa 20 - See Retinitis pigmentosa
• Retinitis pigmentosa 21, formerly - See Retinitis pigmentosa-deafness syndrome
• Retinitis Pigmentosa 22 - See Retinitis pigmentosa
• Retinitis Pigmentosa 23 - See Retinitis pigmentosa
• Retinitis Pigmentosa 24 - See Retinitis pigmentosa
• Retinitis Pigmentosa 25 - See Retinitis pigmentosa
• Retinitis Pigmentosa 26 - See Retinitis pigmentosa
• Retinitis Pigmentosa 28 - See Retinitis pigmentosa
• Retinitis pigmentosa 29 - See Retinitis pigmentosa
• Retinitis pigmentosa 3 - See Retinitis pigmentosa
• Retinitis Pigmentosa 30 - See Retinitis pigmentosa
• Retinitis Pigmentosa 31 - See Retinitis pigmentosa
• Retinitis Pigmentosa 32 - See Retinitis pigmentosa
• Retinitis Pigmentosa 33 - See Retinitis pigmentosa
• Retinitis Pigmentosa 34 - See Retinitis pigmentosa
• Retinitis Pigmentosa 35 - See Retinitis pigmentosa
• Retinitis Pigmentosa 36 - See Retinitis pigmentosa
• Retinitis Pigmentosa 4 - See Retinitis pigmentosa
• Retinitis Pigmentosa 41 - See Retinitis pigmentosa
• Retinitis Pigmentosa 6 - See Retinitis pigmentosa
• Retinitis Pigmentosa 7 - See Retinitis pigmentosa
• Retinitis pigmentosa 8, formerly - See Retinitis pigmentosa-deafness syndrome
• Retinitis Pigmentosa 9 - See Retinitis pigmentosa
• Retinitis pigmentosa and congenital deafness - See Usher syndrome, type 1
• Retinitis pigmentosa syndrome - See RHYNS syndrome
• Retinitis pigmentosa, HYpopituitarism, Nephronophthisis, and mild Skeletal dysplasia - See RHYNS syndrome
• Retinitis pigmentosa-deafness syndrome
• Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome - See Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
• Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
• Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome - See Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
• Retinoblastoma
• Retinochoroidal coloboma
• Retinocochleocerebral vasculopathy - See Susac syndrome
• Retinohepatoendocrinologic syndrome
• Retinol Deficiency - See Keratomalacia
• Retinopathy aplastic anemia neurological abnormalities
• Retinopathy of prematurity
• Retinopathy pigmentary mental retardation
• Retinopathy, arteriosclerotic
• Retinopathy, Burgess-Black type - See Autosomal recessive bestrophinopathy
• Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena - See Retinal vasculopathy with cerebral leukodystrophy
• Retinoschisis autosomal dominant
• Retinoschisis juvenile X chromosome-linked - See Juvenile retinoschisis
• Retinoschisis of Fovea
• Retinoschisis with early hemeralopia - See Goldmann-Favre syndrome
• Retinoschisis X-linked - See Juvenile retinoschisis
• Retractile mesenteritis - See Sclerosing mesenteritis
• Retrolental fibroplasia - See Retinopathy of prematurity
• Retrolenticular syndrome - See Central pain syndrome
• Retroperitoneal cystic lymphangioma - See Abdominal cystic lymphangioma
• Retroperitoneal fibrosis
• Retroperitoneal fibrosis, familial - See Multifocal fibrosclerosis
• Retroperitoneal liposarcoma
• Rett like syndrome - See Atypical Rett syndrome
• Rett syndrome
• Rett syndrome variant - See Atypical Rett syndrome
• Reversible Berylliosis - See Beryllium disease
• Reversible cerebral vasoconstriction syndrome
• Reversible cortical blindness - See Anton's syndrome
• Revesz syndrome
• Reye syndrome
• Reye's Syndrome - See Reye syndrome
• Reynolds syndrome
• RFT1-CDG - See RFT1-CDG (CDG-In)
• RFT1-CDG (CDG-In)
• RF-ve CP - See Negative rheumatoid factor polyarthritis
• RGNT - See Rosette-Forming Glioneuronal Tumor
• Rh deficiency syndrome
• Rhabditida Infections
• Rhabdoid sarcoma - See Rhabdoid tumor
• Rhabdoid tumor
• RHABDOID TUMOR PREDISPOSITION SYNDROME 1 - See Rhabdoid tumor
• Rhabdoid tumor predisposition syndrome 2 - See Rhabdoid tumor
• Rhabdomyomatous mesenchymal hamartoma
• Rhabdomyosarcoma alveolar
• Rhabdomyosarcoma embryonal
• Rheumatic chorea - See Sydenham's chorea
• Rheumatic Fever
• Rheumatoid arthritis, splenomegaly and neutropenia - See Felty's syndrome
• Rheumatoid factor negative erosive chronic polyarthritis - See Negative rheumatoid factor polyarthritis
• Rheumatoid factor-negative polyarthritis - See Negative rheumatoid factor polyarthritis
• Rheumatoid nodulosis
• Rheumatoid vasculitis
• Rhizomelic chondrodysplasia punctata
• Rhizomelic chondrodysplasia punctata - See Rhizomelic chondrodysplasia punctata
• Rhizomelic chondrodysplasia punctata type 1
• Rhizomelic chondrodysplasia punctata type 2 - See Rhizomelic chondrodysplasia punctata
• Rhizomelic chondrodysplasia punctata type 3 - See Rhizomelic chondrodysplasia punctata
• Rhizomelic chondrodysplasia punctata, type 3 - See Rhizomelic chondrodysplasia punctata
• Rhizomelic dysplasia Patterson Lowry type
• Rhizomelic dysplasia, familial - See Rhizomelic syndrome
• Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
• Rhizomelic pseudopolyarthritis
• Rhizomelic shortness with clavicular defect - See Cleidorhizomelic syndrome
• Rhizomelic syndrome
• Rh-null syndrome - See Rh deficiency syndrome
• RHOBTB2 missense variants - See Early infantile epileptic encephalopathy-64
• RHOBTB2-related developmental and epileptic encephalopathy - See Early infantile epileptic encephalopathy-64
• RHYNS syndrome
• RIA - See Radiation induced angiosarcoma of the breast
• Rib gap defects with micrognathia - See Cerebro-costo-mandibular syndrome
• Ribbing disease
• Riboflavin transporter deficiency
• Ribonucleic acid polymerase III-related leukodystrophy - See POLR3-Related Leukodystrophy
• Rice-field fever - See Leptospirosis
• Richardson-Kirk syndrome - See Hypoparathyroidism-intellectual disability-dysmorphism syndrome
• Richards-Rundle syndrome
• Richieri Costa Da Silva syndrome
• Richieri Costa Gorlin syndrome - See Oculomaxillofacial dysostosis
• Richieri Costa Pereira syndrome
• Richieri Costa-da Silva syndrome - See Richieri Costa Da Silva syndrome
• Richieri-Costa and Pereira form of acrofacial dysostosis - See Richieri Costa Pereira syndrome
• Richieri-Costa Guion-Almeida Cohen syndrome
• Richner Hanhart syndrome - See Tyrosinemia type 2
• Richter syndrome
• Richter transformation - See Richter syndrome
• Ricker syndrome - See Myotonic dystrophy type 2
• Rickets
• RI-CMT - See Autosomal recessive intermediate Charcot-Marie-Tooth disease
• RI-CMT type A - See Autosomal recessive intermediate Charcot-Marie-Tooth disease
• RI-CMT type B - See Autosomal recessive intermediate Charcot-Marie-Tooth disease
• RI-CMTB - See Autosomal recessive intermediate Charcot-Marie-Tooth disease
• RICP - See Intrahepatic cholestasis of pregnancy
• Ridges-off-the-end syndrome - See Nelson syndrome
• Rieger syndrome - See Axenfeld-Rieger syndrome
• Rienhoff syndrome
• Right atrium familial dilatation
• Right bundle branch block, ST segment elevation, and sudden death syndrome - See Brugada syndrome
• Right ventricle hypoplasia
• Right ventricular hypoplasia - See Right ventricle hypoplasia
• Rigid spine muscular dystrophy-1 - See Rigid spine syndrome
• Rigid spine syndrome
• Riley Day syndrome - See Familial dysautonomia
• Riley-Smith syndrome - See Bannayan-Riley-Ruvalcaba syndrome
• Rimmed vacuole myopathy - See Inclusion body myopathy 2
• Ring 1 - See Ring chromosome 1
• Ring 10 - See Ring chromosome 10
• Ring 11 - See Ring chromosome 11
• Ring 12 - See Ring chromosome 12
• Ring 13 - See Ring chromosome 13
• Ring 14 - See Ring chromosome 14
• Ring 15 - See Ring chromosome 15
• Ring 16 - See Ring chromosome 16
• Ring 17 - See Ring chromosome 17
• Ring 18 - See Ring chromosome 18
• Ring 19 - See Ring chromosome 19
• Ring 2 - See Ring chromosome 2
• Ring 20 - See Ring chromosome 20
• Ring 21 - See Ring chromosome 21
• Ring 22 - See Ring chromosome 22
• Ring 3 - See Ring chromosome 3
• Ring 4 - See Ring chromosome 4
• Ring 5 - See Ring chromosome 5
• Ring 6 - See Ring chromosome 6
• Ring 7 - See Ring chromosome 7
• Ring 8 - See Ring chromosome 8
• Ring 9 - See Ring chromosome 9
• Ring and little finger syndactyly - See Syndactyly type 3
• Ring chromosome 1
• Ring chromosome 10
• Ring chromosome 11
• Ring chromosome 12
• Ring chromosome 13
• Ring chromosome 14
• Ring chromosome 14 syndrome - See Ring chromosome 14
• Ring chromosome 15
• Ring chromosome 16
• Ring chromosome 17
• Ring chromosome 18
• Ring chromosome 19
• Ring chromosome 2
• Ring chromosome 20
• Ring chromosome 20 syndrome - See Ring chromosome 20
• Ring chromosome 21
• Ring chromosome 22
• Ring chromosome 3
• Ring chromosome 4
• Ring chromosome 5
• Ring chromosome 6
• Ring chromosome 7
• Ring chromosome 8
• Ring chromosome 9
• Ring dermoid of cornea
• Ring dermoid syndrome - See Ring dermoid of cornea
• Ringed hair - See Pili annulati
• Ringed hair disease
• Ripperger Aase syndrome - See Facio skeletal genital syndrome Rippberger type
• Rippling muscle disease
• Rippling muscle disease, 1
• Ritscher Schinzel syndrome - See Dandy-Walker like malformation with atrioventricular septal defect
• Ritscher-Schinzel cranio-cerebello-cardiac syndrome - See Dandy-Walker like malformation with atrioventricular septal defect
• River blindness - See Onchocerciasis
• Rivera Perez Salas syndrome - See Thoraco limb dysplasia Rivera type
• RL syndrome - See Renal dysplasia-limb defects syndrome
• RLS 4 - See Restless legs syndrome
• RLS 5 - See Restless legs syndrome
• RLS1 - See Restless legs syndrome
• RLS2 - See Restless legs syndrome
• RLS3 - See Restless legs syndrome
• RLS6 - See Restless legs syndrome
• RMCH1 (formerly) - See Achromatopsia 3
• RMCH2 - See Achromatopsia 2
• RMD - See Rippling muscle disease
• RMD1 - See Rippling muscle disease, 1
• RMH - See Rhabdomyomatous mesenchymal hamartoma
• RMSF - See Rocky mountain spotted fever
• RMSS - See Bannayan-Riley-Ruvalcaba syndrome
• RNAse T2-deficient leukoencephalopathy
• RNASEH2A-related Aicardi-Goutieres syndrome - See Aicardi-Goutieres syndrome type 4
• RNASEH2B-related Aicardi-Goutieres syndrome - See Aicardi-Goutieres syndrome type 2
• RNASEH2C -related Aicardi-Goutieres syndrome - See Aicardi-Goutieres syndrome type 3
• RNS - See Renal nutcracker syndrome
• Roberts syndrome
• Roberts syndrome/SC phocomelia - See Roberts syndrome
• Roberts tetraphocomelia syndrome - See Roberts syndrome
• Roberts-SC phocomelia syndrome - See Roberts syndrome
• Robin sequence and oligodactyly
• Robin sequence with cleft mandible and limb anomalies - See Richieri Costa Pereira syndrome
• Robin sequence with facial and digital anomalies - See Chitayat Meunier Hodgkinson syndrome
• Robinow dwarfism - See Robinow syndrome
• Robinow syndrome
• Robinow-Silverman-Smith syndrome - See Robinow syndrome
• Robinow-Unger syndrome - See Osteopathia striata cranial sclerosis
• Robinson Miller Bensimon syndrome - See Autosomal dominant deafness-onychodystrophy syndrome
• Robinson-Miller-Bensimon syndrome - See Autosomal dominant deafness-onychodystrophy syndrome
• Robles' disease - See Onchocerciasis
• ROCA - See Rufous oculocutaneous albinism
• Rocher-Sheldon syndrome - See Arthrogryposis multiplex congenita
• Roch-Leri mesosomatous lipomatosis
• Roch-Leri syndrome - See Roch-Leri mesosomatous lipomatosis
• Rock fever - See Brucellosis
• Rocker bottom foot - See Congenital vertical talus
• Rocker-bottom foot deformity - See Congenital vertical talus
• Rocky mountain spotted fever
• Rod body disease - See Nemaline myopathy
• Rod monochromacy 1 (formerly) - See Achromatopsia 3
• Rod monochromacy 2 - See Achromatopsia 2
• Rod monochromatism 1 (formerly) - See Achromatopsia 3
• Rod monochromatism 2 - See Achromatopsia 2
• Rod myopathy - See Nemaline myopathy
• Rod-body myopathy - See Nemaline myopathy
• Rodrigues blindness
• Rodriguez lethal acrofacial dysostosis syndrome - See Acrofacial dysostosis Rodriguez type
• Rogers syndrome - See Thiamine responsive megaloblastic anemia syndrome
• ROHHAD
• Roifman syndrome
• Rokitansky sequence
• Rokitansky syndrome - See Mullerian aplasia
• Rokitansky-Aschoff sinuses - See Rokitansky-Aschoff sinuses of the gallbladder
• Rokitansky-Aschoff sinuses of the gallbladder
• Romano-Ward syndrome - See Long QT syndrome 1
• Romberg hemi-facial atrophy - See Progressive hemifacial atrophy
• Rombo syndrome
• Rommen Mueller Sybert syndrome
• Rootless teeth - See Dentin dysplasia, type 1
• ROP - See Retinopathy of prematurity
• Rosai-Dorfman disease
• Rosaï-Dorfman disease - See Rosai-Dorfman disease
• Rose gardener's disease - See Sporotrichosis
• Rosenberg Lohr syndrome - See Ulna metaphyseal dysplasia syndrome
• Rosenberg-Chutorian syndrome - See Charcot-Marie-Tooth disease
• Rosenthal factor deficiency - See Factor XI deficiency
• Rosenthal syndrome - See Factor XI deficiency
• Rosenthal-Kloepfer syndrome - See Acromegaloid changes, cutis verticis gyrata and corneal leukoma
• Rosette-Forming Glioneuronal Tumor
• Rossi syndrome - See Arthrogryposis multiplex congenita
• Rothmund-Thomson syndrome
• Rotor syndrome
• Rotor-type hyperbilirubinemia - See Rotor syndrome
• Round face with depressed nasal bridge and small mouth, congenital heart defect, and retarded development - SeeSonoda syndrome
• Round-headed sperm syndrome - See Globozoospermia
• Roussy Levy hereditary areflexic dystasia - See Roussy Levy syndrome
• Roussy Levy syndrome
• Roussy-Levy disease - See Roussy Levy syndrome
• Rowley-Rosenberg syndrome
• Roy Maroteaux Kremp syndrome
• Rozin Hertz Goodman syndrome
• RP - See Retinitis pigmentosa
• RP 11 - See Retinitis pigmentosa
• RP 12 - See Retinitis pigmentosa
• RP 13 - See Retinitis pigmentosa
• RP 14 - See Retinitis pigmentosa
• RP 15 - See Retinitis pigmentosa
• RP 17 - See Retinitis pigmentosa
• RP 18 - See Retinitis pigmentosa
• RP 19 - See Retinitis pigmentosa
• RP 2 - See Retinitis pigmentosa
• RP 20 - See Retinitis pigmentosa
• RP 22 - See Retinitis pigmentosa
• RP 23 - See Retinitis pigmentosa
• RP 24 - See Retinitis pigmentosa
• RP 25 - See Retinitis pigmentosa
• RP 26 - See Retinitis pigmentosa
• RP 28 - See Retinitis pigmentosa
• RP 29 - See Retinitis pigmentosa
• RP 30 - See Retinitis pigmentosa
• RP 31 - See Retinitis pigmentosa
• RP 32 - See Retinitis pigmentosa
• RP 33 - See Retinitis pigmentosa
• RP 34 - See Retinitis pigmentosa
• RP 35 - See Retinitis pigmentosa
• RP 36 - See Retinitis pigmentosa
• RP 4 - See Retinitis pigmentosa
• RP 41 - See Retinitis pigmentosa
• RP 6 - See Retinitis pigmentosa
• RP 7 - See Retinitis pigmentosa
• RP 9 - See Retinitis pigmentosa
• RP1 - See Retinitis pigmentosa
• RP21, formerly - See Retinitis pigmentosa-deafness syndrome
• RP3 - See Retinitis pigmentosa
• RP8, formerly - See Retinitis pigmentosa-deafness syndrome
• RRM2B-related mitochondrial DNA depletion syndrome
• RRP - See Recurrent respiratory papillomatosis
• RRS - See Richards-Rundle syndrome
• RS - See Reye syndrome
• RS3PE - See Remitting seronegative symmetrical synovitis with pitting edema
• RSH syndrome - See Smith-Lemli-Opitz syndrome
• RSMD1 - See Rigid spine syndrome
• RSS - See Rigid spine syndrome
• RS-SCID - See Severe combined immunodeficiency with sensitivity to ionizing radiation
• RSTS - See Rubinstein-Taybi syndrome
• RTA with progressive nerve deafness - See Renal tubular acidosis with deafness
• RTA, bicarbonate-wasting type - See Renal tubular acidosis, distal, type 3
• RTA, classic type - See Renal tubular acidosis, distal, autosomal dominant
• RTA, dislocation type - See Renal tubular acidosis, distal, type 3
• RTA, distal type, autosomal dominant - See Renal tubular acidosis, distal, autosomal dominant
• RTA, distal, autosomal recessive - See Autosomal recessive distal renal tubular acidosis
• RTA, gradient type - See Renal tubular acidosis, distal, autosomal dominant
• RTADR - See Autosomal recessive distal renal tubular acidosis
• RTD - See Renal tubular dysgenesis
• RTS - See Rothmund-Thomson syndrome
• Rubella
• Rubella congenital - See Congenital rubella
• Rubeola - See Measles
• Rubinstein syndrome - See Rubinstein-Taybi syndrome
• Rubinstein Taybi like syndrome
• Rubinstein-Taybi syndrome
• Rud Syndrome
• Rudd-Klimek syndrome - See Familial caudal dysgenesis
• Rudiger syndrome 1 - See EEC syndrome
• Rufous OCA - See Rufous oculocutaneous albinism
• Rufous oculocutaneous albinism
• Rumination disorder
• Rumination syndrome - See Rumination disorder
• RUNX1 FPD/AML - See Familial platelet disorder with associated myeloid malignancy
• Russell diencephalic cachexia - See Diencephalic syndrome
• Russell Silver syndrome - See Russell-Silver syndrome
• Russell syndrome - See Diencephalic syndrome
• Russell Weaver Bull syndrome - See Axial mesodermal dysplasia spectrum
• Russell-Silver syndrome
• Rutherfurd syndrome
• Rutledge lethal multiple congenital anomaly syndrome - See Smith-Lemli-Opitz syndrome
• Ruvalcaba Churesigaew Myhre syndrome
• Ruvalcaba -Myhre-Smith syndrome - See Bannayan-Riley-Ruvalcaba syndrome
• Ruvalcaba syndrome
• Ruzicka Goerz Anton syndrome
• RVCL - See Retinal vasculopathy with cerebral leukodystrophy
• RVCL - See Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
• RVCL-S - See Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
• RVCL-S - See Retinal vasculopathy with cerebral leukodystrophy
• Ryukyuan muscular atrophy - See Spinal muscular atrophy Ryukyuan type