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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T cell immunodeficiency primary
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Tabatznik syndrome
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Takayasu arteritis
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Tako-Tsubo syndrome
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Talipes equinovarus
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Talonavicular coalition
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Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals
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Tang Hsi Ryu syndrome
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Tangier disease
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TAR syndrome
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Tardive dyskinesia
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Tarlov cysts
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TARP syndrome
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Tarsal carpal coalition syndrome
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Tarsal tunnel syndrome
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TAU syndrome
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Taurodontia absent teeth sparse hair
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Taurodontism
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Taurodontism, microdontia, and dens invaginatus
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Tay Sachs disease
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T-cell immunodeficiency, congenital alopecia and nail dystrophy
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T-cell lymphoma 1A
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Teebi Kaurah syndrome
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Teebi Naguib Al Awadi syndrome
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Teebi Shaltout syndrome
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Teebi syndrome
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Teeth noneruption of with maxillary hypoplasia and genu valgum
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Tel Hashomer camptodactyly syndrome
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Telencephalic leukoencephalopathy
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Telfer Sugar Jaeger syndrome
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Temporal arteritis
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Temporal epilepsy, familial
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Temporomandibular ankylosis
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Temtamy preaxial brachydactyly syndrome
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Temtamy syndrome
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TEN
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Tendons, extensor, of fingers, anomalous insertion of
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Testicular cancer
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Testicular cancer, childhood
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Testotoxicosis
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Tetanus
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Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities
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Tetra- amelia X-linked
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Tetra-amelia autosomal recessive
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Tetraamelia multiple malformations
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Tetra-amelia with pulmonary hypoplasia
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Tetrahydrobiopterin deficiencies
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Tetralogy of fallot and glaucoma
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Tetraploidy
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Tetrasomy X
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Thakker Donnai syndrome
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Thalamic degeneration symmetrical infantile
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Thalamic degeneration, symmetric infantile
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Thalamic syndrome
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Thalassemia
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Thalassemia minor
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Thanatophoric dysplasia Glasgow variant
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Thanatophoric dysplasia, type 1
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Thanatophoric dysplasia, type 2
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Thanos Stewart Zonana syndrome
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Theodor Hertz Goodman syndrome
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Thiamine responsive megaloblastic anemia syndrome
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Thickened earlobes with conductive deafness from incus-stapes abnormalities
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Thies Reis syndrome
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Thin ribs tubular bones dysmorphism
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Thiolase deficiency
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Thiopurine S methyltranferase deficiency
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Thomas Jewett Raines syndrome
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Thomas syndrome
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Thompson Baraitser syndrome
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Thong Douglas Ferrante syndrome
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Thoracic celosomia
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Thoracic dysplasia hydrocephalus syndrome
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Thoracic outlet syndrome
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Thoraco abdominal enteric duplication
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Thoraco limb dysplasia Rivera type
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Thoracolaryngopelvic dysplasia
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Thoracopelvic dysostosis
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Thost-Unna palmoplantar keratoderma
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Thrombasthenia
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Thrombasthenia of Glanzmann and Naegeli
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Thrombocytopathy
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Thrombocytopathy asplenia miosis
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Thrombocytopenia cerebellar hypoplasia short stature
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Thrombocytopenia chromosome breakage
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Thrombocytopenia Robin sequence
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Thrombocytopenia X-linked
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Thrombocytopenia, cyclic
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Thrombocytopenic purpura, autoimmune
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Thrombomodulin anomalies, familial
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Thrombotic thrombocytopenic purpura, acquired
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Thrombotic thrombocytopenic purpura, congenital
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Thumb absence hypoplastic halluces
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Thumb absent short stature immune deficiency
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Thumb deformity
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Thumb deformity, alopecia, pigmentation anomaly
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Thumb stiff brachydactyly mental retardation
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Thymic epithelial tumor
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Thymic hyperplasia
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Thymic-Renal-Anal-Lung dysplasia
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Thymoma, childhood
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Thyrocerebral-retinal syndrome
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Thyroglossal tract cyst
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Thyroid agenesis
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Thyroid cancer, anaplastic
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Thyroid cancer, childhood
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Thyroid cancer, familial medullary
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Thyroid cancer, follicular
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Thyroid cancer, Hurthle cell
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Thyroid cancer, medullary
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Thyroid cancer, papillary
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Thyroid hormone plasma membrane transport defect
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Thyrotropin deficiency, isolated
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Tibia absent polydactyly arachnoid cyst
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Tibiae bowed radial anomalies osteopenia fracture
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Tibial aplasia ectrodactyly
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Tibial aplasia ectrodactyly hydrocephalus
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Tibial hemimelia cleft lip palate
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Tick paralysis
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Tick-borne encephalitis
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Tièche-Jadassohn nevus
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Tietz syndrome
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Tietze syndrome
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Tight skin contracture syndrome, lethal
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Tiglic acidemia
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Timothy syndrome
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T-Lymphocytopenia
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Togaviridae disease
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Tollner Horst Manzke syndrome
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Tolosa-Hunt syndrome
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Tomaculous neuropathy
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Tome Brune Fardeau syndrome
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Tongue neoplasm
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Toni-Debre-Fanconi syndrome
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Toni-Fanconi syndrome
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Tonoki syndrome
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TORCH syndrome
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Toriello Lacassie Droste syndrome
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Toriello syndrome
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Toriello-Carey syndrome
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Toriello-Higgins-Miller syndrome
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Torsion dystonia
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Torsion dystonia 7
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Torsion dystonia with onset in infancy
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Torticollis keloids cryptorchidism renal dysplasia
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Torticollis, familial
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Torulopsis
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Total Hypotrichosis, Mari type
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Touraine-Solente-Golé syndrome
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Townes-Brocks syndrome
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Toxic Conjunctivitis
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Toxocariasis
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Tracheal agenesis
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Tracheal agenesis without tracheoesophageal fistula
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Tracheobronchomalacia
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Tracheobronchomegaly
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Tracheobronchopathia osteoplastica
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Tracheoesophageal fistula
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Tracheoesophageal fistula symphalangism
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Tracheophageal fistula hypospadias
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Tranebjaerg Svejgaard syndrome
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Transcobalamin 2 deficiency
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Transient bullous dermolysis of the newborn
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Transient erythroblastopenia of childhood
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Transient Global Amnesia
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Transient neonatal arthrogryposis
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Transitional cell carcinoma
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Transplacental infections
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Transposition of great arteries
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Transverse limb deficiency hemangioma
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Transverse myelitis
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Transverse myelitis neuromyelitis optica
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Treacher Collins syndrome
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Treft Sanborn Carey syndrome
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Trehalase deficiency
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Tremor hereditary essential, 1
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Tremor hereditary essential, 2
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Tremors, nystagmus and duodenal ulcers
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Treponema infection
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Trichinellosis
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Tricho odonto onycho dermal syndrome
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Tricho odonto onychodysplasia syndactyly dominant type
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Tricho onychic dysplasia
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Tricho onycho hypohidrotic dysplasia
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Tricho retino dento digital syndrome
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Trichodental syndrome
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Tricho-dento-osseous syndrome
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Tricho-dento-osseous syndrome 1
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Trichodermodysplasia dental alterations
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Trichodysplasia xeroderma
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Trichoepithelioma multiple familial 1
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Trichoepithelioma multiple familial 2
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Trichofolliculoma
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Tricho-hepato-enteric syndrome
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Trichomalacia
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Trichomegaly cataract hereditary spherocytosis
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Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina
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Trichoodontoonychial dysplasia
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Trichorhinophalangeal syndrome type 1
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Trichorhinophalangeal syndrome type 2
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Trichorhinophalangeal syndrome type 3
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Trichorrhexis nodosa syndrome
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Trichoscyphodysplasia
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Trichostasis spinulosa
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Trichothiodystrophy
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Trichothiodystrophy sun sensitivity
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Trichotillomania
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Tricuspid atresia
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Trigeminal neuralgia
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Trigger thumb
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Triglyceride storage disease with impaired long-chain fatty acid oxidation
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Trigonocephaly bifid nose acral anomalies
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Trigonocephaly broad thumbs
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Trigonocephaly ptosis coloboma
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Trigonocephaly ptosis mental retardation
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Trigonomacrocephaly tibial defect polydactyly
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Trihydroxycholestanoylcoa oxidase isolated deficiency
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Trimethylaminuria
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Triopia
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Triose phosphate-isomerase deficiency
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Triphalangeal thumb non opposable
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Triphalangeal thumb polysyndactyly syndrome
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Triphalangeal thumbs brachyectrodactyly
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Triploid Syndrome
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Trisomy 1 mosaicism
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Trisomy 11 mosaicism
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Trisomy 12 mosaicism
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Trisomy 2 & 5 pseudomosaicism
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Trisomy 2 mosaicism
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Trisomy 3 mosaicism
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Trisomy 6
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Trochlear dysplasia
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Tropical Spastic Paraparesis
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Tropical sprue
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Trueb Burg Bottani syndrome
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Trypanosomiasis, Human East-African
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Trypanosomiasis, Human West-African
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Tsao Ellingson syndrome
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Tsukahara Azuno Kajii syndrome
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Tsukahara Kajii syndrome
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Tsukuhara syndrome
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Tuberculosis
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Tuberculosis, pulmonary
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Tuberculous meningitis
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Tuberculous uveitis
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Tuberous sclerosis
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Tuberous sclerosis, type 1
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Tuberous sclerosis, type 2
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Tubulointerstitial nephritis and uveitis
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Tucker syndrome
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Tuffli Laxova syndrome
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Tufted angioma
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Tukel syndrome
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Tularemia
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Tungiasis
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Tunglang Savage Bellman syndrome
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Turcot syndrome
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Turner syndrome
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Turner-like syndrome
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Twenty-nail dystrophy
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Twin twin transfusion syndrome
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Tylosis
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Type 1 plasminogen deficiency
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Typhoid
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Typhoid fever
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Typhus
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Tyrosine transaminase deficiency
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Tyrosinemia
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Tyrosinemia type 1
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Tyrosinemia type 3
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Tyrosine-oxidase temporary deficiency
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