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 Research, 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
The Genetic and Rare Diseases Information Center has posted questions from the
public for the terms in bold. Click on the term to view the list of
questions in the "Questions & Answers" section.
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 agenesis
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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 cancer
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Radiation induced meningioma
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Radio renal syndrome
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Radio-digito-facial dysplasia
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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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Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation
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Radius absent anogenital anomalies
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Raine 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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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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Rat bite fever
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Reactive angioendotheliomatosis
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Reactive arthritis
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Reardon Wilson Cavanagh syndrome
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Recessive developmental delay, small stature, microcephaly and brain calcifications
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Recombinant chromosome 8 syndrome
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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 syndrome
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Reese retinal dysplasia
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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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Relapsing polychondritis
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Renal adysplasia dominant type
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Renal agenesis meningomyelocele mullerian defect
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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 coloboma syndrome
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Renal dysplasia diffuse autosomal recessive
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Renal dysplasia diffuse cystic
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Renal dysplasia megalocystis sirenomelia
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Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
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Renal dysplasia-limb defects syndrome
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Renal genital middle ear anomalies
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Renal glycosuria
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Renal hamartomas nephroblastomatosis and fetal gigantism
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Renal hypouricemia
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Renal oncocytoma
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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 dysgenesis
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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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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 1
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Retinal cone dystrophy 2
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Retinal cone dystrophy 3A
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Retinal cone dystrophy 3B
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Retinal cone dystrophy 4
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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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Retinochoroidal coloboma
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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 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 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 mesenchymal hamartoma
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Rhabdomyosarcoma alveolar
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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 1
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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 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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Right atrium familial dilatation
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Right ventricle hypoplasia
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Rigid spine syndrome
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Ring chromosome 1
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Ring chromosome 10
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Ring chromosome 11
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Ring chromosome 12
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Ring chromosome 13
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Ring chromosome 14
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Ring chromosome 15
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Ring chromosome 16
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Ring chromosome 17
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Ring chromosome 18
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Ring chromosome 19
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Ring chromosome 2
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Ring chromosome 20
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Ring chromosome 21
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Ring chromosome 22
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Ring chromosome 3
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Ring chromosome 4
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Ring chromosome 5
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Ring chromosome 6
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Ring chromosome 7
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Ring chromosome 8
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Ring chromosome 9
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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
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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 sequence
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Rokitansky-Aschoff sinuses of the gallbladder
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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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Rothmund Thomson syndrome
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Rotor syndrome
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Roussy Levy syndrome
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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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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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Rutherfurd syndrome
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Ruvalcaba Churesigaew Myhre syndrome
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Ruvalcaba syndrome
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Ruzicka Goerz Anton syndrome