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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T cell immunodeficiency primary
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Tabatznik syndrome
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Tachycardia hypertension microphthalmia and hyperglycinuria
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Takayasu arteritis
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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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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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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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TEMPI syndrome
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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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Tendons, extensor, of fingers, anomalous insertion of
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Teratoma with malignant transformation
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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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Tetraamelia multiple malformations X-linked
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Tetra-amelia syndrome
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Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities
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Tetraamelia with pulmonary hypoplasia
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Tetrahydrobiopterin deficiency
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Tetralogy of Fallot
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Tetralogy of fallot and glaucoma
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Tetramelic monodactyly
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Tetraploidy
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Tetrasomy 9p
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Tetrasomy X
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Thai symphalangism syndrome
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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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Thalassemia
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Thanatophoric dysplasia
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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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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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Thiolase deficiency
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Thiopurine S methyltranferase deficiency
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Thomas syndrome
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Thompson Baraitser 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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Thoracomelic dysplasia
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Thoracopelvic dysostosis
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Thrombasthenia
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Thrombocytopathy asplenia miosis
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Thrombocytopenia 2
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Thrombocytopenia cerebellar hypoplasia short stature
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Thrombocytopenia Robin sequence
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Thrombocytopenia with elevated serum IgA and renal disease
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Thrombocytopenia, acquired amegakaryocytic
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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 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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Thunderclap headache
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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, follicular
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Thyroid cancer, medullary
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Thyroid hormone plasma membrane transport defect
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Thyrotoxic periodic paralysis
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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 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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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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Tome Brunet Fardeau syndrome
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Tongue cancer
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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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Torg Winchester syndrome
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Toriello Carey syndrome
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Torsion dystonia
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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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Total Hypotrichosis, Mari type
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Townes-Brocks syndrome
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Toxic epidermal necrolysis
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Toxocariasis
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Trabecular fiber myopathy
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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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Trachoma
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Tranebjaerg Svejgaard syndrome
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Transaldolase deficiency
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Transcobalamin 1 deficiency
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Transient acantholytic dermatosis
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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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Transient neonatal diabetes mellitus
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Transitional cell carcinoma
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Transposition of the great arteries
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Transverse limb deficiency hemangioma
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Transverse myelitis
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Treacher Collins syndrome
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Treacher Collins syndrome 3
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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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Trichinosis
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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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Trichodysplasia xeroderma
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Trichofolliculoma
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Tricho-hepato-enteric syndrome
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Trichomalacia
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Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina
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Trichomegaly, cataract, and hereditary spherocytosis
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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 nonphotosensitive
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Trichothiodystrophy photosensitive
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Trichotillomania
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Trichuriasis
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Tricuspid atresia
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Trigeminal neuralgia
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Trigger thumb
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Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet
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Trigonocephaly bifid nose acral anomalies
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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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Triple A syndrome
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Triploidy
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Trismus-pseudocamptodactyly syndrome
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Trisomy 11 mosaicism
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Trisomy 12 mosaicism
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Trisomy 13
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Trisomy 17 mosaicism
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Trisomy 18
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Trisomy 2 mosaicism
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Trisomy 22
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Trisomy 3 mosaicism
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Trochlea of the humerus aplasia of
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Trochlear dysplasia
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Trophoblastic tumor placental site
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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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Tryptophanuria with dwarfism
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Tsukahara Azuno Kajii syndrome
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Tuberculosis
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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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Tubular aggregate myopathy
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Tubulointerstitial nephritis and uveitis
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Tucker syndrome
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Tufted angioma
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Tufted hair folliculitis
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Tufting enteropathy
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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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Twenty-nail dystrophy
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Twin twin transfusion syndrome
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Tylosis
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Tylosis with esophageal cancer
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Type 1 plasminogen deficiency
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Typhoid fever
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Typhus
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Tyrosinemia type 1
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Tyrosinemia type 2
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Tyrosinemia type 3
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Tyrosine-oxidase temporary deficiency