Rare Diseases and Related Terms
Rare diseases terms are either (1) terms for which information requests have
been made to the Office of Rare Diseases, the Genetic and Rare Diseases
Information Center, or the National Human Genome Research Institute; or (2)
diseases that have been suggested as being rare. The purpose of the Rare
Diseases and Related Terms list is to distribute information; although the list
is updated regularly, it should not be used as a reference or guarantee that a
condition is rare. The prevalence of a rare disease is usually an estimate and
may change over time. A rare (or orphan) disease is generally considered to have
a prevalence of fewer than 200,000 affected individuals in the United States.
Certain diseases with 200,000 or more affected individuals may be included in
this list if certain subpopulations of people who have the disease are equal to
the prevalence standard for rare diseases. We welcome suggestions for additions
to or deletions from the list. Your recommendations may be sent via e-mail to
ord@od.nih.gov
Browse by Condition
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Rabies
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Rabson-Mendenhall syndrome
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Radial defect Robin sequence
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Radial hypoplasia, triphalangeal thumbs and hypospadias
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Radial ray hypoplasia choanal atresia
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Radiation induced angiosarcoma of the breast
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Radiation induced brachial plexopathy
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Radiation induced meningioma
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Radiation related neoplasm
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Radio digito facial dysplasia
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Radio renal syndrome
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Radioulnar synostosis retinal pigment abnormalities
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Radio-ulnar synostosis type 1
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Radio-ulnar synostosis type 2
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Radius absent anogenital anomalies
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Raine syndrome
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Rambaud Galian syndrome
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Ramer Ladda syndrome
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Ramon Syndrome
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Ramos Arroyo Clark syndrome
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Ramsay Hunt syndrome
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Rapadilino syndrome
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Rapp-Hodgkin syndrome
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Rasmussen encephalitis
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Rasmussen Johnsen Thomsen syndrome
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Rasmussen subacute encephalitis
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Rat bite fever
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Ray Peterson Scott syndrome
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Reactive angioendotheliomatosis
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Reactive attachment disorder of early childhood
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Reactive attachment disorder of infancy
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Reardon Hall Slaney syndrome
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Reardon Wilson Cavanagh syndrome
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Recombinant chromosome 8 syndrome
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Rectal cancer
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Rectal cancer, childhood
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Rectal neoplasm
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Rectosigmoid neoplasm
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Recurrent peripheral facial palsy
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Recurrent respiratory papillomatosis
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Red cell phospholipid defect with hemolysis
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Red skin pigment anomaly of New Guinea
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Reductional transverse limb defects
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Reed's syndrome
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Reflex sympathetic dystrophy syndrome
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Refractory anemia
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Refsum disease
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Refsum disease with increased pipecolic acidemia
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Refsum disease, infantile form
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Reginato Shiapachasse syndrome
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Reiter's Syndrome
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Renal adysplasia dominant type
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Renal agenesis meningomyelocele mullerian defect
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Renal agenesis, bilateral
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Renal artery stenosis
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Renal caliceal diverticuli deafness
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Renal cancer
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Renal carcinoma, familial
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Renal cell carcinoma 4
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Renal cysts and diabetes syndrome
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Renal dysplasia - limb defects syndrome
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Renal dysplasia diffuse autosomal recessive
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Renal dysplasia diffuse cystic
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Renal dysplasia limb defects
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Renal dysplasia megalocystis sirenomelia
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Renal dysplasia mesomelia radiohumeral fusion
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Renal genital middle ear anomalies
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Renal glycosuria
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Renal hepatic pancreatic dysplasia Dandy Walker cyst
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Renal hypouricemia
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Renal osteodystrophy
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Renal pelvis and ureter, transitional cell cancer
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Renal rickets
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Renal tubular acidosis
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Renal tubular acidosis progressive nerve deafness
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Renal tubular acidosis, distal
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Renal tubular acidosis, distal, autosomal dominant
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Renal tubular acidosis, distal, autosomal recessive
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Renal tubular acidosis, distal, type 3
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Renal tubular acidosis, distal, type 4
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Renal tubular transport disorders inborn
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Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial dna
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Renier Gabreels Jasper syndrome
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Renoanogenital syndrome
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Renoprival hypertension
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Renpenning syndrome 1
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Resistance to LH (luteinizing hormone)
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Resistance to thyroid stimulating hormone
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Respiratory chain deficiency malformations
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Respiratory distress syndrome, infant
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Restless legs syndrome, susceptibility to, 1
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Restless legs syndrome, susceptibility to, 2
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Restless legs syndrome, susceptibility to, 3
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Restless legs syndrome, susceptibility to, 4
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Restless legs syndrome, susceptibility to, 5
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Restless legs syndrome, susceptibility to, 6
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Reticular dysgenesis
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Reticuloendotheliosis
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Retinal cone dystrophy 2
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Retinal degeneration
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Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma
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Retinal dysplasia X-linked
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Retinal telangiectasia hypogammaglobulinemia
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Retinis pigmentosa deafness hypogenitalism
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Retinitis pigmentosa
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Retinitis pigmentosa 1
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Retinitis Pigmentosa 11
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Retinitis pigmentosa 12
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Retinitis Pigmentosa 13
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Retinitis Pigmentosa 14
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Retinitis Pigmentosa 15
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Retinitis Pigmentosa 17
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Retinitis Pigmentosa 18
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Retinitis Pigmentosa 19
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Retinitis pigmentosa 2, x linked
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Retinitis Pigmentosa 20
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Retinitis Pigmentosa 22
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Retinitis Pigmentosa 23
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Retinitis Pigmentosa 24
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Retinitis Pigmentosa 25
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Retinitis Pigmentosa 26
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Retinitis Pigmentosa 28
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Retinitis pigmentosa 29
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Retinitis pigmentosa 3
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Retinitis Pigmentosa 30
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Retinitis Pigmentosa 31
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Retinitis Pigmentosa 32
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Retinitis Pigmentosa 33
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Retinitis Pigmentosa 34
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Retinitis Pigmentosa 35
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Retinitis Pigmentosa 36
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Retinitis Pigmentosa 4
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Retinitis Pigmentosa 41
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Retinitis Pigmentosa 6
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Retinitis Pigmentosa 7
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Retinitis Pigmentosa 9
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Retinitis pigmentosa, deafness, mental retardation, and hypogonadism
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Retinitis pigmentosa-deafness syndrome
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Retinoblastoma
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Retinohepatoendocrinologic syndrome
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Retinopathy anemia CNS anomalies
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Retinopathy aplastic anemia neurological abnormalities
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Retinopathy of prematurity
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Retinopathy pigmentary mental retardation
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Retinopathy, arteriosclerotic
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Retinoschisis
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Retinoschisis autosomal dominant
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Retinoschisis of Fovea
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Retroperitoneal fibrosis
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Retroperitoneal liposarcoma
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Rett like syndrome
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Rett syndrome
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Revesz syndrome
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Reye syndrome
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Reynolds Neri Hermann syndrome
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Reynolds syndrome
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Rhabditida Infections
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Rhabdoid tumor
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Rhabdomyomatous dysplasia cardiopathy genital anomalies
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Rhabdomyomatous mesenchymal hamartoma
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Rhabdomyosarcoma 1
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Rhabdomyosarcoma 2
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Rhabdomyosarcoma of the orbit
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Rhabdomyosarcoma, childhood
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Rhabdomyosarcoma, embryonal
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Rheumatic Fever
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Rheumatoid nodulosis
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Rheumatoid vasculitis
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Rhizomelic chondrodysplasia punctata, type 2
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Rhizomelic chondrodysplasia punctata, type 3
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Rhizomelic dysplasia Patterson Lowry type
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Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
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Rhizomelic pseudopolyarthritis
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Rhizomelic syndrome
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RHYNS syndrome
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Ribbing disease
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Richards-Rundle syndrome
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Richieri Costa Da Silva syndrome
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Richieri Costa Guion Almeida Rodini syndrome
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Richieri Costa Guion-Almeida syndrome
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Richieri Costa Orquizas syndrome
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Richieri Costa Pereira syndrome
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Richieri-Costa Colletto Otto syndrome
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Richieri-Costa Guion-Almeida Cohen syndrome
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Richter syndrome
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Rickets
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Rickettsial disease
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Rickettsiosis
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Rieger syndrome
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Rieger syndrome 2
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Right atrium familial dilatation
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Right pulmonary artery, anomalous origin of, familial
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Right ventricle hypoplasia
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Rigid spine syndrome
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Ring dermoid of cornea
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Ringed hair disease
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Rippling muscle disease
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Rippling muscle disease, 1
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Roberts Syndrome
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Robin sequence and oligodactyly
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Robinow Sorauf syndrome
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Robinow syndrome, autosomal recessive
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Robinson Miller Bensimon syndrome
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Roch-Leri mesosomatous lipomatosis
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Rocky Mountain spotted fever
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Rod myopathy
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Rodini Richieri Costa syndrome
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Rodrigues blindness
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ROHHAD
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Roifman syndrome
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Rokitansky Kuster Hauser syndrome
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Rokitansky sequence
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Rokitansky-Aschoff sinuses of the gallbladder
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Romano-Ward syndrome
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Rombo syndrome
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Rommen Mueller Sybert syndrome
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Rosai-Dorfman disease
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Rosenberg Chutorian syndrome
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Rotor syndrome
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Roussy Levy hereditary areflexic dystasia
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Rowley-Rosenberg syndrome
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Roy Maroteaux Kremp syndrome
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Rozin Hertz Goodman syndrome
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Rubella
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Rubella virus antenatal infection
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Rubella, congenital
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Rubinstein Taybi like syndrome
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Rubinstein-Taybi syndrome
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Rud Syndrome
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Rudd Klimek syndrome
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Rufous oculocutaneous albinism
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Rumination disorder
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Russell-Silver syndrome
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Ruvalcaba Churesigaew Myhre syndrome
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Ruvalcaba syndrome
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Ruzicka Goerz Anton syndrome
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