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
Browse by Condition
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Saal Bulas syndrome
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Sabinas brittle hair syndrome
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Saccharopinuria
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Sackey Sakati Aur syndrome
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Sacral agenesis
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Sacral defect and anterior sacral meningocele
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Sacral hemangiomas multiple congenital abnormalities
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Sacral meningocele conotruncal heart defects
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Sacral plexopathy
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Sacrococcygeal dysgenesis association
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Saethre-Chotzen syndrome
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Saito Kuba Tsuruta syndrome
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Sakati syndrome
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Salcedo syndrome
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Salivary gland cancer, adult
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Salivary gland cancer, childhood
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Salla disease
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Sallis Beighton syndrome
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Sammartino Decreccio syndrome
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Samson Gardner syndrome
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Samson Viljoen syndrome
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Sanderson Fraser syndrome
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Sandhaus Ben-Ami syndrome
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Sandhoff disease
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Sandifer syndrome
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Santos Mateus Leal syndrome
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SAPHO syndrome
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Sarcoidosis
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Sarcoidosis, pulmonary
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Sarcoma botryoides
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Sarcosinemia
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SARS
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Satoyoshi syndrome
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Saul Wilkes Stevenson syndrome
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Say Barber Miller syndrome
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Say Carpenter syndrome
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Say Field Coldwell syndrome
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Say Meyer syndrome
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Say syndrome
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Scalp defects postaxial polydactyly
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Scalp ear nipple syndrome
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Scaphotrapeziotrapezoid arthrodesis
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Scapuloperoneal myopathy
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Scapuloperoneal myopathy, MYH7-related
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Scapuloperoneal syndrome, neurogenic, Kaeser type
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SCARF syndrome
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Schaap Taylor Baraitser syndrome
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Schaefer Stein Oshman syndrome
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Scheuermann disease
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Schimke immunoosseous dysplasia
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Schimke X-linked mental retardation syndrome
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Schindler disease, type 1
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Schinzel Giedion syndrome
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Schisis association
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Schistosomiasis
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Schizencephaly
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Schizophrenia mental retardation deafness retinitis
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Schizotaxia
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Schlegelberger Grote syndrome
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Schmidt syndrome
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Schmitt Gillenwater Kelly syndrome
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Schneckenbecken dysplasia
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Scholte syndrome
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Schrander-Stumpel Theunissen Hulsmans syndrome
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Schroer Hammer Mauldin syndrome
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Schwannoma, malignant
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Schwannomatosis
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Schwartz Cohen-Addad Lambert syndrome
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Schwartz Jampel syndrome
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Schwartz-Lelek syndrome
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Scleredema
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Scleroatonic muscular dystrophy
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Sclerocornea, Syndactyly, ambiguous genitalia
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Scleromyxedema
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Sclerosing bone dysplasia mental retardation
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Sclerosing mesenteritis
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Sclerosteosis
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Sclerotylosis
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Scoliosis as part of NF
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Scoliosis with unilateral unsegmented bar
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SCOT deficiency
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Scott Bryant Graham syndrome
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Scott syndrome
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Scurvy
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Sea-Blue histiocytosis
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Seaver Cassidy syndrome
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Sebaceous gland hyperplasia, familial presenile
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Sebastian syndrome
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Sebocystomatosis
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Secernentea Infections
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Seckel like syndrome Majoor Krakauer type
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Seckel like syndrome type Buebel
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Seckel syndrome 1
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Seckel syndrome 2
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Secondary pulmonary hypertension
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Secretory breast carcinoma
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Seemanova Lesny syndrome
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Segawa syndrome, autosomal recessive
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Seghers syndrome
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Segmental vertebral anomalies
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Segmentation syndrome 1
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Seizures benign familial neonatal recessive form
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Seizures mental retardation hair dysplasia
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Selenium poisoning
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Selig Benacerraf Greene syndrome
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Seminoma
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Semmerkrot Haraldsson Weenaes syndrome
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Sener syndrome
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Sengers Hamel Otten syndrome
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Senior Loken Syndrome
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Senior syndrome
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Senior-Loken syndrome 4
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Sennetsu Fever
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Sensorineural hearing loss
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Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
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Sensory neuropathy type 1
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Senter syndrome
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Seow Najjar syndrome
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Sepiapterin reductase deficiency
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Septo-optic dysplasia
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Septooptic dysplasia digital anomalies
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Sequeiros Sack syndrome
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Seres-Santamaria Arimany Muniz syndrome
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Serious digitalis intoxication
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Serkal syndrome
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Serpentine fibula polycystic kidney syndrome
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Serpiginous choroiditis
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Sertoli cell-only syndrome, Y-linked
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Sertoli-leydig cell tumors
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Severe achondroplasia with developmental delay and acanthosis nigricans
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Severe combined immunodeficiency
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Severe combined immunodeficiency with sensitivity to ionizing radiation
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Severe combined immunodeficiency, atypical
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Severe combined immunodeficiency, X-linked
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Severe congenital neutropenia
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Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
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Severe infantile axonal neuropathy
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Severe mental retardation and absent nails of hallux and pollex
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Sezary syndrome
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Shapiro syndrome
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Sharma Kapoor Ramji syndrome
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Sharp syndrome
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Shaver's disease
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Sheehan syndrome
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Shigellosis
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Shith Filkins syndrome
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Short bowel syndrome
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Short broad great toe macrocranium
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Short chain Acyl CoA dehydrogenase deficiency
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Short limb dwarf edema iris coloboma
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Short limb dwarf lethal Colavita Kozlowski type
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Short limb dwarf lethal Mcalister Crane type
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Short limb dwarfism Al Gazali type
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Short limbs abnormal face congenital heart disease
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Short limbs subluxed knees cleft palate
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Short rib-polydactyly syndrome
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Short rib-polydactyly syndrome, Beemer type
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Short rib-polydactyly syndrome, Majewski type
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Short rib-polydactyly syndrome, Saldino-Noonan type
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Short rib-polydactyly syndrome, Verma-Naumoff type
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Short ribs craniosynostosis polysyndactyly
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Short stature abnormal skin pigmentation mental retardation
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Short stature and locking fingers
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Short stature contractures hypotonia
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Short stature cranial hyperostosis hepatomegaly
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Short stature deafness neutrophil dysfunction
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Short stature dysmorphic face pelvic scapula dysplasia
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Short stature hyperkaliemia acidosis
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Short stature mental retardation eye anomalies
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Short stature mental retardation eye defects
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Short stature microcephaly seizures deafness
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Short stature monodactylous ectrodactyly cleft palate
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Short stature prognathism short femoral necks
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Short stature Robin sequence cleft mandible hand anomalies clubfoot
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Short stature syndrome, Brussels type
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Short stature talipes natal teeth
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Short stature valvular heart disease
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Short stature webbed neck heart disease
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Short stature wormian bones dextrocardia
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Short stature, cranial hyperostosis, hepatomegaly and diabetes
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SHORT syndrome
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Short tarsus absence of lower eyelashes
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Shoulder and thorax deformity congenital heart disease
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Shoulder girdle defect mental retardation familial
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Shprintzen Golberg craniosynostosis
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Shprintzen omphalocele syndrome
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Shprintzen omphalocele syndrome
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Shwachman-Diamond syndrome
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Shwartzman phenomenon
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Shy-Drager syndrome
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Sialadenitis
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Sialidosis
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Sialidosis type 1 and 3
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Sialuria, French type
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Sickle cell anemia
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Siderius X-linked mental retardation syndrome
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Sideroblastic anemia, autosomal
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Siderosis
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Siegler Brewer Carey syndrome
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Signet ring cell carcinoma
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Silengo Lerone Pelizza syndrome
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Silicosiderosis
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Silicosis
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Sillence syndrome
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Silvery hair syndrome
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Simian B virus infection
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Simosa cranio facial syndrome
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Simpson-Golabi-Behmel syndrome
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Sine scleroderma
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Singh Chhaparwal Dhanda syndrome
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Single upper central incisor
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Single ventricular heart
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Singleton Merten syndrome
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Sino-auricular heart block
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Sinonasal undifferentiated carcinoma
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Sinus cancer
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Sinus histiocytosis
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Sinus node disease and myopia
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Sirenomelia
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Sitosterolemia
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Situs inversus
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Situs inversus totalis with cystic dysplasia of kidneys and pancreas
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Situs inversus, X-linked
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Sixth nerve palsy
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Sjogren-Larsson syndrome
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Sjogren-Larsson-like syndrome
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Sjögren-Mikulicz syndrome
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Sjogren's syndrome, juvenile, secondary to autoimmune disease
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Skeletal dysplasia brachydactyly
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Skeletal dysplasia orofacial anomalies
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Skeletal dysplasia, San Diego type
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Skeletal dysplasias
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Skeleto cardiac syndrome with thrombocytopenia
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Sketetal dysplasia coarse facies mental retardation
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Skin cancer, non melanoma, childhood
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Slavotinek Pike Mills Hurst syndrome
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Slti Salem syndrome
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Sly syndrome
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Small cell lung cancer, childhood
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Small cell lung cancer, adult
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Small intestine cancer, adult
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Small intestine cancer, childhood
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Small non-cleaved cell lymphoma
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Smith Lemli Opitz syndrome, type 1
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Smith Martin Dodd syndrome
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Smith-Lemli-Opitz syndrome, type 2
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Smith-Magenis Syndrome
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Sneddon Syndrome
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Snowflake vitreoretinal degeneration
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Snyder Robinson syndrome
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Soft tissue sarcoma, childhhod
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Soft tissue sarcomas
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Sohval Soffer syndrome
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Somatostatinoma
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Sommer Hines syndrome
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Sommer Rathbun Battles syndrome
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Sommer Young Wee Frye syndrome
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Sondheimer syndrome
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Sonoda syndrome
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Sosby syndrome
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Sotos syndrome
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Southwestern Athabaskan genetic diseases
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Sparse hair ptosis mental retardation
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Spasmodic dysphonia
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Spastic angina with healthy coronary artery
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Spastic ataxia Charlevoix-Saguenay type
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Spastic diplegia infantile type
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Spastic dysphonia
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Spastic paraparesis
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Spastic paraparesis deafness
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Spastic paraplegia 10, autosomal dominant
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Spastic paraplegia 11, autosomal recessive
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Spastic paraplegia 12, autosomal dominant
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Spastic paraplegia 13, autosomal dominant
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Spastic paraplegia 14, autosomal recessive
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Spastic paraplegia 15, autosomal recessive
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Spastic paraplegia 16, X-linked
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Spastic paraplegia 17
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Spastic paraplegia 19, autosomal dominant
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Spastic paraplegia 2, X-linked
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Spastic paraplegia 20, autosomal recessive
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Spastic paraplegia 23
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Spastic paraplegia 24
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Spastic paraplegia 25, autosomal recessive
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Spastic paraplegia 26, autosomal recessive
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Spastic paraplegia 29, autosomal dominant
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Spastic paraplegia 3, autosomal dominant
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Spastic paraplegia 4, autosomal dominant
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Spastic paraplegia 6, autosomal dominant
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Spastic paraplegia 8, autosomal dominant
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Spastic paraplegia 9, autosomal dominant
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Spastic paraplegia and distal muscle wasting caused by neuropathy target esterase gene mutation
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Spastic paraplegia epilepsy mental retardation
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Spastic paraplegia nephritis deafness
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Spastic paraplegia neuropathy poikiloderma
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Spastic paraplegia type 1, X-linked
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Spastic paraplegia type 5A, recessive
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Spastic paraplegia type 5B, recessive
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Spastic paraplegia with Kallmann syndrome
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Spastic paraplegia with precocious puberty
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Spastic paresis glaucoma mental retardation
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Spastic quadriplegia retinitis pigmentosa mental retardation
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Spasticity mental retardation
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Spasticity multiple exostoses
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Spellacy gibbs watts syndrome
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Spermatogenesis arrest
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Spherocytosis
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Spheroid body myopathy
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Spherophakia brachymorphia syndrome
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Sphingolipidosis
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Spiegler-Brooke syndrome
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Spielmeyer-Vogt disease
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Spina bifida
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Spina bifida hypospadias
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Spinal atrophy ophthalmoplegia pyramidal syndrome
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Spinal bulbar motor neuropathy
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Spinal bulbar muscular atrophy
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Spinal cord neoplasm
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Spinal dysostosis type Anhalt
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Spinal intradural arachnoid cysts
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Spinal muscular atrophy
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Spinal muscular atrophy type 2
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Spinal muscular atrophy type I with congenital bone fractures
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Spinal muscular atrophy with respiratory distress 1
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Spinal muscular atrophy, Ryukyuan type
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Spinal muscular atrophy, type 3
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Spinal shock
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Spine rigid cardiomyopathy
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Spinocerebellar ataxia 1
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Spinocerebellar ataxia 10
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Spinocerebellar ataxia 11
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Spinocerebellar ataxia 12
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Spinocerebellar ataxia 13
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Spinocerebellar ataxia 14
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Spinocerebellar ataxia 15
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Spinocerebellar ataxia 16
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Spinocerebellar ataxia 17
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Spinocerebellar ataxia 18
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Spinocerebellar ataxia 19
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Spinocerebellar ataxia 2
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Spinocerebellar ataxia 20
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Spinocerebellar ataxia 21
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Spinocerebellar ataxia 22
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Spinocerebellar ataxia 23
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Spinocerebellar ataxia 25
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Spinocerebellar ataxia 26
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Spinocerebellar ataxia 27
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Spinocerebellar ataxia 28
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Spinocerebellar ataxia 29
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Spinocerebellar ataxia 3
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Spinocerebellar ataxia 30
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Spinocerebellar ataxia 4
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Spinocerebellar ataxia 5
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Spinocerebellar ataxia 6
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Spinocerebellar ataxia 7
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Spinocerebellar ataxia 8
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Spinocerebellar ataxia 9
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Spinocerebellar ataxia amyotrophy deafness
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Spinocerebellar ataxia with dysmorphism
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Spinocerebellar ataxia, autosomal recessive 1
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Spinocerebellar ataxia, autosomal recessive 3
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Spinocerebellar ataxia, autosomal recessive 4
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Spinocerebellar ataxia, autosomal recessive 5
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Spinocerebellar ataxia, autosomal recessive 6
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Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
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Spinocerebellar ataxia, X-linked, 2
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Spinocerebellar ataxia, X-linked, 3
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Spinocerebellar ataxia, X-linked, 4
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Spinocerebellar degeneration corneal dystrophy
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Spinocerebellar degenerescence book type
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Spirochetes disease
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Spirurida Infections
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Spitz nevus
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Spleen neoplasm
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Splenic agenesis syndrome
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Splenic infarcts
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Splenogonadal fusion limb defects micrognatia
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Splenomegaly
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Split hand split foot malformation autosomal recessive
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Split hand split foot mandibular hypoplasia
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Split hand split foot nystagmus
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Split hand urinary anomalies spina bifida
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Split hand/foot malformation X-linked
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Split-hand deformity
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Spondylarthritis
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Spondylarthropathies
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Spondylarthropathy
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Spondylitis
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Spondylo costal dysostosis dandy walker
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Spondylocamptodactyly
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Spondylocarpotarsal synostosis
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Spondylocostal dysostosis, autosomal recessive
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Spondylocostal dysplasia dominant
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Spondyloenchondrodysplasia
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Spondyloepimetaphyseal dysplasia
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Spondyloepimetaphyseal dysplasia congenita, Iraqi
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Spondyloepimetaphyseal dysplasia joint laxity
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Spondyloepimetaphyseal dysplasia with hypotrichosis
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Spondyloepimetaphyseal dysplasia with multiple dislocations
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Spondyloepimetaphyseal dysplasia, Genevieve type
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Spondyloepimetaphyseal dysplasia, sponastrime type
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Spondyloepiphyseal dysplasia
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Spondyloepiphyseal dysplasia nephrotic syndrome
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Spondyloepiphyseal dysplasia tarda
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Spondyloepiphyseal dysplasia tarda progressive art
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Spondyloepiphyseal dysplasia, congenita
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Spondyloepiphyseal dysplasia, Omani type
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Spondylohypoplasia, arthrogryposis and popliteal pterygium
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Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism
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Spondylometaphyseal dysplasia with dentinogenesis imperfecta
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Spondylometaphyseal dysplasia, Algerian type
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Spondylometaphyseal dysplasia, axial
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Spondylometaphyseal dysplasia, 'corner fracture' type
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Spondylometaphyseal dysplasia, east-African type
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Spondylometaphyseal dysplasia, Kozlowski type
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Spondylometaphyseal dysplasia, Sedaghatian type
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Spondylometaphyseal dysplasia, X-linked
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Spondyloperipheral dysplasia short ulna
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Spongiform encephalopathy
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Spontaneous periodic hypothermia
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Spontaneous pneumothorax familial type
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Sporotrichosis
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Spotted fever
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Spranger Schinzel Myers syndrome
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Sprengel deformity
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Squamous cell carcinoma
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SSADH deficiency (succinic semialdehyde dehydrogenase deficiency)
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St. Anthony's fire
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Stachybotrys chartarum
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Stalker chitayat syndrome
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Stampe sorensen syndrome
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Staphylococcal food poisoning
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Staphylococcal toxic shock syndrome
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STAR syndrome
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Stargardt disease 1
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Stargardt disease 3
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Stargardt disease 4
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Status epilepticus
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Steatocystoma multiplex
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Steatocystoma multiplex with natal teeth
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Steinfeld syndrome
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Stenotrophomonas maltophilia
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Sterility due to immotile flagella
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Stern Lubinsky Durrie syndrome
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Sternal cleft
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Sternal cyst vascular anomalies
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Sternal malformation vascular dysplasia associatio
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Steroid dehydrogenase deficiency dental anomalies
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Stevens-Johnson syndrome
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Stewart Treves syndrome
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Stickler syndrome, type 1
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Stickler syndrome, type 2
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Stickler syndrome, type 3
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Stiff person syndrome
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Stiff skin syndrome
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Still's disease
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Stimmler syndrome
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Stocco dos Santos syndrome
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Stoelinga de Koomen Davis syndrome
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Stoll Alembik Dott syndrome
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Stoll alembik finck syndrome
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Stoll geraudel chauvin syndrome
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Stoll kieny dott syndrome
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Stoll Levy Francfort syndrome
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Stomach cancer
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Stomach cancer, childhood
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Stomach cancer, familial
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Storage pool platelet disease
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Storm syndrome
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Stratton garcia young syndrome
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Stratton Parker syndrome
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Streptococcal Group A invasive disease
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Streptococcal Group B invasive disease
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Stress cardiomyopathy
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Striatonigral degeneration infantile
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Strongyloidiasis
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Strudwick syndrome
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Stuart factor deficiency, congenital
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Stuccokeratosis
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Sturge-Weber syndrome
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Stuve-Wiedemann syndrome
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Subacute sclerosing panencephalitis
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Subcortical laminar heterotopia
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Subcutaneous panniculitis-like T-cell lymphoma
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Subependymal nodular heterotopia
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Subependymoma
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Subpulmonary stenosis
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Subvalvular aortic stenosis
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Succinate coenzyme Q reductase deficiency of
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Succinic acidemia
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Succinic acidemia lactic acidosis congenital
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Succinyl-CoA acetoacetate transferase deficiency
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Sucrase-isomaltase deficiency, congenital
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Sudden Arrhythmia Death Syndrome
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Sudden infant death syndrome
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Sugarman syndrome
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Sulfite oxidase deficiency
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Summitt syndrome
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SUNCT headache
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Superficial siderosis of the central nervous system
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Superficial spreading melanoma
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Superior mesenteric artery syndrome
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Superior vena cava syndrome
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Supernumerary nipples
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Supraglottic laryngeal cancer
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Supranuclear ocular palsy
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Supratentorial primitive neuroectodermal tumors, childhood
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Supraumbilical midabdominal raphe and facial cavernous hemangiomas
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Susac syndrome
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Sutton disease 2
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Swyer James syndrome
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Swyer syndrome
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Sybert Smith syndrome
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Sydenham's chorea
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Symmastia
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Symmetrical thalamic calcifications
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Symphalangism brachydactyly
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Symphalangism brachydactyly craniosynostosis
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Symphalangism distal
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Symphalangism familial proximal
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Symphalangism short stature accessory testis
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Symphalangism with multiple anomalies of hands and feet
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Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch
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Syncamptodactyly scoliosis
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Syncopal paroxysmal tachycardia
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Syncopal tachyarythmia
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Syncope, familial neurocardiogenic
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Syndactyly
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Syndactyly cataract mental retardation
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Syndactyly Cenani Lenz type
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Syndactyly ectodermal dysplasia cleft lip palate hand foot
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Syndactyly type 5
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Syndactyly type I with microcephaly and mental retardation
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Syndactyly, type 2
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Syndactyly, type 3
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Syndactyly, type v
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Syndactyly-polydactyly-ear lobe syndrome
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Syngnathia cleft palate
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Syngnathia multiple anomalies
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Synostoses, tarsal, carpal, and digital
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Synostosis of talus and calcaneus short stature
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Synovial cancer
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Synovial osteochondromatosis
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Synovial sarcoma
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Synovitis
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Synovitis acne pustulosis hyperostosis osteitis
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Synovitis granulomatous with uveitis and cranial neuropathies
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Syphilitic aseptic meningitis
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Syphilitic myelopathy
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Syringobulbia
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Syringocystadenoma papilliferum
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Syringomas natal teeth oligodontia
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Syringomelia hyperkeratosis
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Syringomyelia
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Systemic candidiasis
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Systemic carnitine deficiency
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Systemic necrotizing angitis
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