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

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
• 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 - See Urethral 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 - See Naegeli 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