List of rare diseases-R

NIH genetic and rare disease info

• NIH info on List of rare diseases-R

List of rare diseases-R is a rare disease.

• R1
• R10
• R11
• R12
• R13
• R15
• R16
• R17
• R18
• R19
• R2
• R20
• R21
• R22
• R3
• R4
• R5
• R6
• R7
• R8
• R9
• Rabbit fever
• Rabies
• Rabson-Mendenhall syndrome
• Rachischisis
• Radial and patellar aplasia
• Radial and patellar hypoplasia
• Radial aplasia, X-linked
• Radial defect Robin sequence
• Radial ray agenesis
• Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
• Radial ray hypoplasia and choanal atresia
• Radial ray hypoplasia choanal atresia
• Radial-ulnar hypoplasia with bone marrow failure and/or leukemia
• Radial-ulnar synostosis
• Radiation induced angiosarcoma of the breast
• Radiation induced brachial neuritis
• Radiation induced brachial plexopathy
• Radiation induced cancer
• Radiation induced meningioma
• Radiation injury to the brachial plexus
• Radiation related cancer
• Radicular dentin dysplasia
• Radio renal syndrome
• Radio-renal syndrome
• Radioulnar synostosis
• Radio-ulnar synostosis
• Radioulnar synostosis and a typical rhomboid shape of the tibia and fibula
• Radio-ulnar synostosis type 1
• Radio-ulnar synostosis type 2
• Radioulnar synostosis-microcephaly-scoliosis syndrome
• Radius absent anogenital anomalies
• RAE
• RAEB
• RAF1 gene related Noonan syndrome
• Ragpicker's disease
• Rahman syndrome
• Raine syndrome
• Rambam-Hasharon syndrome
• Ramer Ladda syndrome
• Ramon Syndrome
• Ramos Arroyo Clark syndrome
• Ramos-Arroyo syndrome
• Ramsay Hunt cerebellar syndrome
• Ramsay Hunt syndrome
• Ramsay Hunt syndrome type 1 (formerly)
• Ramsay Hunt syndrome type 2 (formerly)
• RAMSVPS
• Rapadilino syndrome
• Raphe, supraumbilical midline, with cavernous facial hemangiomas
• Rapidly progressive glomerulonephritis with pulmonary hemorrhage
• Rapid-onset dystonia-parkinsonism
• Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation
• Rare adenocarcinoma of the breast
• Rare bone tumor
• Rare form of Hirschsprung's disease
• Rare intellectual disability without developmental anomaly
• Rare lichen planus
• Rare LP
• 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
• Rare tumor of liver and intrahepatic biliary tract
• RARS
• Rasmussen encephalitis
• Rasmussen Johnsen Thomsen syndrome
• Rasmussen syndrome
• Rat bite fever
• Rathburn disease
• Rathke's pouch tumor
• RB
• RBCD
• RBS
• RCAD
• RCC4
• RCCP
• RCD1
• RCD2
• RCD3A
• RCD3B
• RCD4
• RCDP
• RCDP1
• RCDP2
• RCDP3
• RCL
• RCRD2
• RCUD
• RCVS
• RD
• RDC
• RDD
• RDEB generalisata gravis
• RDEB generalisata mitis
• RDEB, generalized intermediate
• RDEB, Hallopeau-Siemens type
• RDEB, non-Hallopeau-Siemens type
• RDEB, severe generalized
• RDEB-generalized other
• RDEB-O
• RDEB-sev gen
• RDP
• RDPA
• RDS - infants
• RE
• Reactive angioendotheliomatosis
• Reactive arthritis
• REAR syndrome
• Reardon Wilson Cavanagh syndrome
• Reardon-Hall-Slaney syndrome
• Rec8 syndrome
• Recessive aplasia cutis congenita of the limbs
• Recessive ataxia of Beauce
• Recessive dystrophic epidermolysis bullosa
• Recessive dystrophic epidermolysis bullosa, generalized intermediate
• Recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type
• Recessive dystrophic epidermolysis bullosa, severe generalized
• Recessive dystrophic epidermolysis bullosa-generalized other
• Recessive microcephaly with spastic quadriplegia
• Recessive pseudoachondroplasia
• Recessive spastic paraplegia with retinal degeneration
• Recklinghausen's disease
• Recombinant chromosome 8 syndrome
• Recurrent acute necrotizing encephalopathy
• Recurrent duplication of 17q12
• Recurrent encephalophathy of childhood
• Recurrent familial intrahepatic cholestasis 1
• Recurrent familial intrahepatic cholestasis 2
• Recurrent hydatidiform mole
• Recurrent infection due to specific granule deficiency
• Recurrent intrahepatic cholestasis of pregnancy
• Recurrent laryngeal papillomatosis (subtype)
• Recurrent meningitis
• Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
• Recurrent peripheral facial palsy
• Recurrent polychondritis
• Recurrent polyserositis
• Recurrent respiratory papillomatosis
• Recurrent Scarring Aphthae
• Recurrent spontaneous hypothermia with hypoplasia of the corpus callosum
• Recurrent trigger thumb (type)
• Red cell aldolase deficiency
• Red cell aplasia, pure hereditary
• Red cell phospholipid defect with hemolysis
• Red skin pigment anomaly of New Guinea
• Red skin pigment, New Guinea type
• Reducing body myopathy
• Reed's syndrome
• Reese retinal dysplasia
• Refetoff syndrome
• Reflex sympathetic dystrophy
• Refractory anemia with excess blasts
• Refractory anemia with ringed sideroblasts
• Refractory cytopenia with unilineage dysplasia
• Refractory macrocytic anemia due to 5q deletion
• Refrigeration palsy
• Refsum disease
• Refsum disease with increased pipecolic acidemia
• Refsum disease, infantile form
• Regional choroidal atrophy and alopecia
• Regressive metaphyseal dysplasia
• Reifenstein syndrome, partial
• Reis Bucklers corneal dystrophy
• Reis Bucklers dystrophy
• Reiter syndrome
• Reiter's syndrome
• Relapsing polychondritis
• Remitting seronegative symmetrical synovitis with pitting edema
• Remnant removal disease
• Renal adenocarcinoma
• Renal agenesis
• Renal and anogenital malformations with syndactyly
• Renal and craniofacial anomalies with persistence of mullerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly
• Renal caliceal diverticuli deafness
• Renal Cell Adenocarcinoma
• Renal cell carcinoma
• Renal cell carcinoma 4
• Renal collecting duct carcinoma
• Renal coloboma syndrome
• Renal cysts and diabetes
• Renal cysts and diabetes syndrome
• Renal dysplasia diffuse cystic
• Renal dysplasia limb defects syndrome
• Renal dysplasia or hydronephrosis, oligohydramnios and subsequent lung hypoplasia due to urethral obstruction
• Renal dysplasia retinal aplasia
• Renal dysplasia, megalocystis, and sirenomelia
• Renal dysplasia, mesomelia, and radiohumeral fusion
• Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
• Renal dysplasia-limb defects syndrome
• Renal failure and sensorineural hearing loss
• Renal Fanconi syndrome with nephrocalcinosis and renal stones
• Renal genital middle ear anomalies
• Renal glucosuria
• Renal glycosuria
• Renal hamartomas, nephroblastomatosis, and fetal gigantism
• Renal histidinuria
• Renal hypomagnesemia 2
• Renal hypomagnesemia type 2
• Renal hypomagnesemia-6
• Renal hypouricemia
• Renal medullary carcinoma
• Renal nutcracker syndrome
• Renal oncocytoma
• Renal pelvis and ureter, transitional cell cancer
• Renal PHA1
• Renal pseudohypoaldosteronism type 1
• Renal rickets
• Renal tubular acidosis
• Renal tubular acidosis 1
• Renal tubular acidosis progressive nerve deafness
• Renal tubular acidosis type 1b
• Renal tubular acidosis type I
• Renal tubular acidosis with deafness
• Renal tubular acidosis with progressive nerve deafness
• Renal tubular acidosis, autosomal recessive with preserved hearing
• Renal tubular acidosis, autosomal recessive, with progressive nerve deafness
• Renal tubular acidosis, distal, autosomal dominant
• RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, WITH LATE-ONSET SENSORINEURAL HEARING LOSS, INCLUDED
• Renal tubular acidosis, distal, type 3
• RENAL TUBULAR ACIDOSIS, DISTAL, WITH NORMAL RED CELL MORPHOLOGY, INCLUDED
• Renal tubular acidosis, distal, with progressive nerve deafness
• Renal tubular dysgenesis
• Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA
• Renal-ear-anal-radial syndrome
• Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome
• Renal-retinal syndrome
• REN-associated familial juvenile hyperuricemic nephropathy
• REN-associated FJHN
• REN-associated kidney disease
• REN-associated kidney disease)
• Rendu-Osler-Weber disease
• Renier Gabreels Jasper syndrome
• Renoprival hypertension
• Renpenning syndrome 1
• RENS1
• Resistance to thyroid stimulating hormone
• Respiratory distress syndrome, adult
• Respiratory distress syndrome, infant
• Respiratory papillomatosis, recurrent
• Restless leg syndrome- not a rare disease.
• Restless legs syndrome- not a rare disease.
• Restless legs syndrome, susceptibility to, 1
• Restless legs syndrome, susceptibility to, 2
• Restless legs syndrome, susceptibility to, 3
• Restless legs syndrome, susceptibility to, 4
• Restless legs syndrome, susceptibility to, 5
• Restless legs syndrome, susceptibility to, 6
• Restrictive dermopathy, lethal
• Retarded growth, hydrocephalus, micrognathia, intestinal malrotation, omphalocele, short lower limbs and foot deformities
• Retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body
• Reticular dysgenesis
• Reticular pigment anomaly of flexures
• Reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy
• Reticulate acropigmentation of Dohi
• Reticulate acropigmentation of Kitamura
• Reticulate hyperpigmentation of Iijima
• Reticuloendotheliosis
• Reticuloendotheliosis familial with eosinophilia
• Reticuloendotheliosis, X-linked
• Reticulohistiocytoma
• Retinal arterial macroaneurysm and supravalvular pulmonic stenosis
• Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
• Retinal blindness, congenital
• Retinal cancer
• Retinal 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
• Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma
• Retinal degeneration, autosomal recessive, prominin-related
• Retinal degeneration, late-onset, autosomal dominant
• Retinal degeneration, nanophthalmos, glaucoma
• Retinal detachment-occipital encephalocele syndrome
• Retinal dysplasia X-linked
• Retinal pigment epithelial dystrophy central
• Retinal pigmentary degeneration, microcephaly, and severe mental retardation
• Retinal telangiectasia associated with hypogammaglobulinemia
• Retinal telangiectasis
• Retinal tumor
• Retinal vasculopathy and cerebral leukoencephalopathy
• Retinal vasculopathy and cerebral leukoencephalopathy
• Retinal vasculopathy with cerebral leukodystrophy
• Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
• Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
• Retinitis pigmentosa
• Retinitis pigmentosa 1
• Retinitis Pigmentosa 11
• Retinitis pigmentosa 12
• Retinitis Pigmentosa 13
• Retinitis Pigmentosa 14
• Retinitis Pigmentosa 15
• Retinitis Pigmentosa 17
• Retinitis Pigmentosa 18
• Retinitis Pigmentosa 19
• Retinitis pigmentosa 2, X-linked
• Retinitis Pigmentosa 20
• Retinitis pigmentosa 21, formerly
• Retinitis Pigmentosa 22
• Retinitis Pigmentosa 23
• Retinitis Pigmentosa 24
• Retinitis Pigmentosa 25
• Retinitis Pigmentosa 26
• Retinitis Pigmentosa 28
• Retinitis pigmentosa 29
• Retinitis pigmentosa 3
• Retinitis Pigmentosa 30
• Retinitis Pigmentosa 31
• Retinitis Pigmentosa 32
• Retinitis Pigmentosa 33
• Retinitis Pigmentosa 34
• Retinitis Pigmentosa 35
• Retinitis Pigmentosa 36
• Retinitis Pigmentosa 4
• Retinitis Pigmentosa 41
• Retinitis Pigmentosa 6
• Retinitis Pigmentosa 7
• Retinitis pigmentosa 8, formerly
• Retinitis Pigmentosa 9
• Retinitis pigmentosa and congenital deafness
• Retinitis pigmentosa syndrome
• Retinitis pigmentosa, HYpopituitarism, Nephronophthisis, and mild Skeletal dysplasia
• Retinitis pigmentosa-deafness syndrome
• Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome
• Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
• Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome
• Retinoblastoma
• Retinochoroidal coloboma
• Retinocochleocerebral vasculopathy
• Retinohepatoendocrinologic syndrome
• Retinol Deficiency
• Retinopathy aplastic anemia neurological abnormalities
• Retinopathy of prematurity
• Retinopathy pigmentary mental retardation
• Retinopathy, arteriosclerotic
• Retinopathy, Burgess-Black type
• Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena
• Retinoschisis autosomal dominant
• Retinoschisis juvenile X chromosome-linked
• Retinoschisis of Fovea
• Retinoschisis with early hemeralopia
• Retinoschisis X-linked
• Retractile mesenteritis
• Retrolental fibroplasia
• Retrolenticular syndrome
• Retroperitoneal cystic lymphangioma
• Retroperitoneal fibrosis
• Retroperitoneal fibrosis, familial
• Retroperitoneal liposarcoma
• Rett like syndrome
• Rett syndrome
• Rett syndrome variant
• Reversible Berylliosis
• Reversible cerebral vasoconstriction syndrome
• Reversible cortical blindness
• Revesz syndrome
• Reye syndrome
• Reye's Syndrome
• Reynolds syndrome
• RFT1-CDG
• RFT1-CDG (CDG-In)
• RF-ve CP
• RGNT
• Rh deficiency syndrome
• Rhabditida Infections
• Rhabdoid sarcoma
• Rhabdoid tumor
• RHABDOID TUMOR PREDISPOSITION SYNDROME 1
• Rhabdoid tumor predisposition syndrome 2
• Rhabdomyomatous mesenchymal hamartoma
• Rhabdomyosarcoma alveolar
• Rhabdomyosarcoma embryonal
• Rheumatic chorea
• Rheumatic Fever
• Rheumatoid arthritis, splenomegaly and neutropenia
• Rheumatoid factor negative erosive chronic polyarthritis
• Rheumatoid factor-negative polyarthritis
• Rheumatoid nodulosis
• Rheumatoid vasculitis
• Rhizomelic chondrodysplasia punctata
• Rhizomelic chondrodysplasia punctata
• Rhizomelic chondrodysplasia punctata type 1
• Rhizomelic chondrodysplasia punctata type 2
• Rhizomelic chondrodysplasia punctata type 3
• Rhizomelic chondrodysplasia punctata, type 3
• Rhizomelic dysplasia Patterson Lowry type
• Rhizomelic dysplasia, familial
• Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
• Rhizomelic pseudopolyarthritis
• Rhizomelic shortness with clavicular defect
• Rhizomelic syndrome
• Rh-null syndrome
• RHOBTB2 missense variants
• RHOBTB2-related developmental and epileptic encephalopathy
• RHYNS syndrome
• RIA
• Rib gap defects with micrognathia
• Ribbing disease
• Riboflavin transporter deficiency
• Ribonucleic acid polymerase III-related leukodystrophy
• Rice-field fever
• Richardson-Kirk syndrome
• Richards-Rundle syndrome
• Richieri Costa Da Silva syndrome
• Richieri Costa Gorlin syndrome
• Richieri Costa Pereira syndrome
• Richieri Costa-da Silva syndrome
• Richieri-Costa and Pereira form of acrofacial dysostosis
• Richieri-Costa Guion-Almeida Cohen syndrome
• Richner Hanhart syndrome
• Richter syndrome
• Richter transformation
• Ricker syndrome
• Rickets
• RI-CMT
• RI-CMT type A
• RI-CMT type B
• RI-CMTB
• RICP
• Ridges-off-the-end syndrome
• Rieger syndrome
• Rienhoff syndrome
• Right atrium familial dilatation
• Right bundle branch block, ST segment elevation, and sudden death syndrome
• Right ventricle hypoplasia
• Right ventricular hypoplasia
• Rigid spine muscular dystrophy-1
• Rigid spine syndrome
• Riley Day syndrome
• Riley-Smith syndrome
• Rimmed vacuole myopathy
• Ring 1
• Ring 10
• Ring 11
• Ring 12
• Ring 13
• Ring 14
• Ring 15
• Ring 16
• Ring 17
• Ring 18
• Ring 19
• Ring 2
• Ring 20
• Ring 21
• Ring 22
• Ring 3
• Ring 4
• Ring 5
• Ring 6
• Ring 7
• Ring 8
• Ring 9
• Ring and little finger syndactyly
• Ring chromosome 1
• Ring chromosome 10
• Ring chromosome 11
• Ring chromosome 12
• Ring chromosome 13
• Ring chromosome 14
• Ring chromosome 14 syndrome
• 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
• 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
• Ringed hair
• Ringed hair disease
• Ripperger Aase syndrome
• Rippling muscle disease
• Rippling muscle disease, 1
• Ritscher Schinzel syndrome
• Ritscher-Schinzel cranio-cerebello-cardiac syndrome
• River blindness
• Rivera Perez Salas syndrome
• RL syndrome
• RLS 4
• RLS 5
• RLS1
• RLS2
• RLS3
• RLS6
• RMCH1 (formerly)
• RMCH2
• RMD
• RMD1
• RMH
• RMSF
• RMSS
• RNAse T2-deficient leukoencephalopathy
• RNASEH2A-related Aicardi-Goutieres syndrome
• RNASEH2B-related Aicardi-Goutieres syndrome
• RNASEH2C -related Aicardi-Goutieres syndrome
• RNS
• Roberts syndrome
• Roberts syndrome/SC phocomelia
• Roberts tetraphocomelia syndrome
• Roberts-SC phocomelia syndrome
• Robin sequence and oligodactyly
• Robin sequence with cleft mandible and limb anomalies
• Robin sequence with facial and digital anomalies
• Robinow dwarfism
• Robinow syndrome
• Robinow-Silverman-Smith syndrome
• Robinow-Unger syndrome
• Robinson Miller Bensimon syndrome
• Robinson-Miller-Bensimon syndrome
• Robles' disease
• ROCA
• Rocher-Sheldon syndrome
• Roch-Leri mesosomatous lipomatosis
• Roch-Leri syndrome
• Rock fever
• Rocker bottom foot
• Rocker-bottom foot deformity
• Rocky mountain spotted fever
• Rod body disease
• Rod monochromacy 1 (formerly)
• Rod monochromacy 2
• Rod monochromatism 1 (formerly)
• Rod monochromatism 2
• Rod myopathy
• Rod-body myopathy
• Rodrigues blindness
• Rodriguez lethal acrofacial dysostosis syndrome
• Rogers syndrome
• ROHHAD
• Roifman syndrome
• Rokitansky sequence
• Rokitansky syndrome
• Rokitansky-Aschoff sinuses
• Rokitansky-Aschoff sinuses of the gallbladder
• Romano-Ward syndrome
• Romberg hemi-facial atrophy
• Rombo syndrome
• Rommen Mueller Sybert syndrome
• Rootless teeth
• ROP
• Rosai-Dorfman disease
• Rosaï-Dorfman disease
• Rose gardener's disease
• Rosenberg Lohr syndrome
• Rosenberg-Chutorian syndrome
• Rosenthal factor deficiency
• Rosenthal syndrome
• Rosenthal-Kloepfer syndrome
• Rosette-Forming Glioneuronal Tumor
• Rossi syndrome
• Rothmund-Thomson syndrome
• Rotor syndrome
• Rotor-type hyperbilirubinemia
• Round face with depressed nasal bridge and small mouth, congenital heart defect, and retarded development
• Round-headed sperm syndrome
• Roussy Levy hereditary areflexic dystasia
• Roussy Levy syndrome
• Roussy-Levy disease
• Rowley-Rosenberg syndrome
• Roy Maroteaux Kremp syndrome
• Rozin Hertz Goodman syndrome
• RP
• RP 11
• RP 12
• RP 13
• RP 14
• RP 15
• RP 17
• RP 18
• RP 19
• RP 2
• RP 20
• RP 22
• RP 23
• RP 24
• RP 25
• RP 26
• RP 28
• RP 29
• RP 30
• RP 31
• RP 32
• RP 33
• RP 34
• RP 35
• RP 36
• RP 4
• RP 41
• RP 6
• RP 7
• RP 9
• RP1
• RP21, formerly
• RP3
• RP8, formerly
• RRM2B-related mitochondrial DNA depletion syndrome
• RRP
• RRS
• RS
• RS3PE
• RSH syndrome
• RSMD1
• RSS
• RS-SCID
• RSTS
• RTA with progressive nerve deafness
• RTA, bicarbonate-wasting type
• RTA, classic type
• RTA, dislocation type
• RTA, distal type, autosomal dominant
• RTA, distal, autosomal recessive
• RTA, gradient type
• RTADR
• RTD
• RTS
• Rubella
• Rubella congenital
• Rubeola
• Rubinstein syndrome
• Rubinstein Taybi like syndrome
• Rubinstein-Taybi syndrome
• Rud Syndrome
• Rudd-Klimek syndrome
• Rudiger syndrome 1
• Rufous OCA
• Rufous oculocutaneous albinism
• Rumination disorder
• Rumination syndrome
• RUNX1 FPD/AML
• Russell diencephalic cachexia
• Russell Silver syndrome
• Russell syndrome
• Russell Weaver Bull syndrome
• Russell-Silver syndrome
• Rutherfurd syndrome
• Rutledge lethal multiple congenital anomaly syndrome
• Ruvalcaba Churesigaew Myhre syndrome
• Ruvalcaba -Myhre-Smith syndrome
• Ruvalcaba syndrome
• Ruzicka Goerz Anton syndrome
• RVCL
• RVCL
• RVCL-S
• RVCL-S
• Ryukyuan muscular atrophy

NIH genetic and rare disease info

• NIH info on List of rare diseases-R

List of rare diseases-R is a rare disease.