Rare Disease Directory S - U
- Sabinas brittle hair syndrome
- Saccharopinuria
- Sackey Sakati Aur syndrome
- Sacral agenesis
- Sacral defect and anterior sacral meningocele
- Sacral hemangiomas multiple congenital abnormalities
- Sacral meningocele conotruncal heart defects
- Sacral plexopathy
- Sacrococcygeal dysgenesis association
- Saethre-Chotzen syndrome
- Saito Kuba Tsuruta syndrome
- Sakati syndrome
- Salcedo syndrome
- Salivary gland cancer, adult
- Salivary gland cancer, childhood
- Salla disease
- Sallis Beighton syndrome
- Sammartino Decreccio syndrome
- Samson Gardner syndrome
- Samson Viljoen syndrome
- Sanderson Fraser syndrome
- Sandhaus Ben-Ami syndrome
- Sandhoff disease
- Sandifer syndrome
- Santos Mateus Leal syndrome
- SAPHO syndrome
- Sarcoidosis
- Sarcoidosis, pulmonary
- Sarcoma botryoides
- Sarcosinemia
- SARS
- Satoyoshi syndrome
- Saul Wilkes Stevenson syndrome
- Say Barber Miller syndrome
- Say Carpenter syndrome
- Say Field Coldwell syndrome
- Say Meyer syndrome
- Say syndrome
- Scalp defects postaxial polydactyly
- Scalp ear nipple syndrome
- Scaphotrapeziotrapezoid arthrodesis
- Scapuloperoneal myopathy
- Scapuloperoneal myopathy, MYH7-related
- Scapuloperoneal syndrome, neurogenic, Kaeser type
- SCARF syndrome
- Schaap Taylor Baraitser syndrome
- Schaefer Stein Oshman syndrome
- Scheuermann disease
- Schimke immunoosseous dysplasia
- Schimke X-linked mental retardation syndrome
- Schindler disease, type 1
- Schinzel Giedion syndrome
- Schisis association
- Schistosomiasis
- Schizencephaly
- Schizophrenia mental retardation deafness retinitis
- Schizotaxia
- Schlegelberger Grote syndrome
- Schmidt syndrome
- Schmitt Gillenwater Kelly syndrome
- Schneckenbecken dysplasia
- Scholte syndrome
- Schrander-Stumpel Theunissen Hulsmans syndrome
- Schroer Hammer Mauldin syndrome
- Schwannoma, malignant
- Schwannomatosis
- Schwartz Cohen-Addad Lambert syndrome
- Schwartz Jampel syndrome
- Schwartz-Lelek syndrome
- Scleredema
- Scleroatonic muscular dystrophy
- Sclerocornea, Syndactyly, ambiguous genitalia
- Scleromyxedema
- Sclerosing bone dysplasia mental retardation
- Sclerosing mesenteritis
- Sclerosteosis
- Sclerotylosis
- Scoliosis as part of NF
- Scoliosis with unilateral unsegmented bar
- SCOT deficiency
- Scott Bryant Graham syndrome
- Scott syndrome
- Scurvy
- Sea-Blue histiocytosis
- Seaver Cassidy syndrome
- Sebaceous gland hyperplasia, familial presenile
- Sebastian syndrome
- Sebocystomatosis
- Secernentea Infections
- Seckel like syndrome Majoor Krakauer type
- Seckel like syndrome type Buebel
- Seckel syndrome 1
- Seckel syndrome 2
- Secondary pulmonary hypertension
- Secretory breast carcinoma
- Seemanova Lesny syndrome
- Segawa syndrome, autosomal recessive
- Seghers syndrome
- Segmental vertebral anomalies
- Segmentation syndrome 1
- Seizures benign familial neonatal recessive form
- Seizures mental retardation hair dysplasia
- Selenium poisoning
- Selig Benacerraf Greene syndrome
- Seminoma
- Semmerkrot Haraldsson Weenaes syndrome
- Sener syndrome
- Sengers Hamel Otten syndrome
- Senior Loken Syndrome
- Senior syndrome
- Senior-Loken syndrome 4
- Sennetsu Fever
- Sensorineural hearing loss
- Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- Sensory neuropathy type 1
- Senter syndrome
- Seow Najjar syndrome
- Sepiapterin reductase deficiency
- Septo-optic dysplasia
- Septooptic dysplasia digital anomalies
- Sequeiros Sack syndrome
- Seres-Santamaria Arimany Muniz syndrome
- Serious digitalis intoxication
- Serkal syndrome
- Serpentine fibula polycystic kidney syndrome
- Sertoli cell-only syndrome, Y-linked
- Sertoli-leydig cell tumors
- Severe achondroplasia with developmental delay and acanthosis nigricans
- Severe combined immunodeficiency
- Severe combined immunodeficiency with sensitivity to ionizing radiation
- Severe combined immunodeficiency, atypical
- Severe combined immunodeficiency, X-linked
- Severe congenital neutropenia
- Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
- Severe infantile axonal neuropathy
- Severe mental retardation and absent nails of hallux and pollex
- Sezary syndrome
- Shapiro syndrome
- Sharma Kapoor Ramji syndrome
- Sharp syndrome
- Shaver's disease
- Sheehan syndrome
- Shigellosis
- Shith Filkins syndrome
- Short bowel syndrome
- Short broad great toe macrocranium
- Short chain Acyl CoA dehydrogenase deficiency
- Short limb dwarf edema iris coloboma
- Short limb dwarf lethal Colavita Kozlowski type
- Short limb dwarf lethal Mcalister Crane type
- Short limb dwarfism Al Gazali type
- Short limbs abnormal face congenital heart disease
- Short limbs subluxed knees cleft palate
- Short rib-polydactyly syndrome
- Short rib-polydactyly syndrome, Beemer type
- Short rib-polydactyly syndrome, Majewski type
- Short rib-polydactyly syndrome, Saldino-Noonan type
- Short rib-polydactyly syndrome, Verma-Naumoff type
- Short ribs craniosynostosis polysyndactyly
- Short stature abnormal skin pigmentation mental retardation
- Short stature and locking fingers
- Short stature contractures hypotonia
- Short stature cranial hyperostosis hepatomegaly
- Short stature deafness neutrophil dysfunction
- Short stature dysmorphic face pelvic scapula dysplasia
- Short stature hyperkaliemia acidosis
- Short stature mental retardation eye anomalies
- Short stature mental retardation eye defects
- Short stature microcephaly seizures deafness
- Short stature monodactylous ectrodactyly cleft palate
- Short stature prognathism short femoral necks
- Short stature Robin sequence cleft mandible hand anomalies clubfoot
- Short stature syndrome, Brussels type
- Short stature talipes natal teeth
- Short stature valvular heart disease
- Short stature webbed neck heart disease
- Short stature wormian bones dextrocardia
- Short stature, cranial hyperostosis, hepatomegaly and diabetes
- SHORT syndrome
- Short tarsus absence of lower eyelashes
- Shoulder and thorax deformity congenital heart disease
- Shoulder girdle defect mental retardation familial
- Shprintzen Golberg craniosynostosis
- Shprintzen omphalocele syndrome
- Shprintzen omphalocele syndrome
- Shwachman-Diamond syndrome
- Shwartzman phenomenon
- Shy-Drager syndrome
- Sialadenitis
- Sialidosis
- Sialidosis type 1 and 3
- Sialuria, French type
- Sickle cell anemia
- Siderius X-linked mental retardation syndrome
- Sideroblastic anemia, autosomal
- Siderosis
- Siegler Brewer Carey syndrome
- Signet ring cell carcinoma
- Silengo Lerone Pelizza syndrome
- Silicosiderosis
- Silicosis
- Sillence syndrome
- Silvery hair syndrome
- Simian B virus infection
- Simosa cranio facial syndrome
- Simpson-Golabi-Behmel syndrome
- Sine scleroderma
- Singh Chhaparwal Dhanda syndrome
- Single upper central incisor
- Single ventricular heart
- Singleton Merten syndrome
- Sino-auricular heart block
- Sinonasal undifferentiated carcinoma
- Sinus cancer
- Sinus histiocytosis
- Sinus node disease and myopia
- Sirenomelia
- Sitosterolemia
- Situs inversus
- Situs inversus totalis with cystic dysplasia of kidneys and pancreas
- Situs inversus, X-linked
- Sixth nerve palsy
- Sjogren-Larsson syndrome
- Sjogren-Larsson-like syndrome
- Sjögren-Mikulicz syndrome
- Sjogren's syndrome, juvenile, secondary to autoimmune disease
- Skeletal dysplasia brachydactyly
- Skeletal dysplasia orofacial anomalies
- Skeletal dysplasia, San Diego type
- Skeletal dysplasias
- Skeleto cardiac syndrome with thrombocytopenia
- Sketetal dysplasia coarse facies mental retardation
- Skin cancer, non melanoma, childhood
- Slavotinek Pike Mills Hurst syndrome
- Slti Salem syndrome
- Sly syndrome
- Small cell lung cancer, childhood
- Small cell lung cancer, adult
- Small intestine cancer, adult
- Small intestine cancer, childhood
- Small non-cleaved cell lymphoma
- Smith Lemli Opitz syndrome, type 1
- Smith Martin Dodd syndrome
- Smith-Lemli-Opitz syndrome, type 2
- Smith-Magenis Syndrome
- Sneddon Syndrome
- Snowflake vitreoretinal degeneration
- Snyder Robinson syndrome
- Soft tissue sarcoma, childhhod
- Soft tissue sarcomas
- Sohval Soffer syndrome
- Somatostatinoma
- Sommer Hines syndrome
- Sommer Rathbun Battles syndrome
- Sommer Young Wee Frye syndrome
- Sondheimer syndrome
- Sonoda syndrome
- Sosby syndrome
- Sotos syndrome
- Southwestern Athabaskan genetic diseases
- Sparse hair ptosis mental retardation
- Spasmodic dysphonia
- Spastic angina with healthy coronary artery
- Spastic ataxia Charlevoix-Saguenay type
- Spastic diplegia infantile type
- Spastic dysphonia
- Spastic paraparesis
- Spastic paraparesis deafness
- Spastic paraplegia 10, autosomal dominant
- Spastic paraplegia 11, autosomal recessive
- Spastic paraplegia 12, autosomal dominant
- Spastic paraplegia 13, autosomal dominant
- Spastic paraplegia 14, autosomal recessive
- Spastic paraplegia 15, autosomal recessive
- Spastic paraplegia 16, X-linked
- Spastic paraplegia 17
- Spastic paraplegia 19, autosomal dominant
- Spastic paraplegia 2, X-linked
- Spastic paraplegia 20, autosomal recessive
- Spastic paraplegia 23
- Spastic paraplegia 24
- Spastic paraplegia 25, autosomal recessive
- Spastic paraplegia 26, autosomal recessive
- Spastic paraplegia 29, autosomal dominant
- Spastic paraplegia 3, autosomal dominant
- Spastic paraplegia 4, autosomal dominant
- Spastic paraplegia 6, autosomal dominant
- Spastic paraplegia 8, autosomal dominant
- Spastic paraplegia 9, autosomal dominant
- Spastic paraplegia and distal muscle wasting caused by neuropathy target esterase gene mutation
- Spastic paraplegia epilepsy mental retardation
- Spastic paraplegia nephritis deafness
- Spastic paraplegia neuropathy poikiloderma
- Spastic paraplegia type 1, X-linked
- Spastic paraplegia type 5A, recessive
- Spastic paraplegia type 5B, recessive
- Spastic paraplegia with Kallmann syndrome
- Spastic paraplegia with precocious puberty
- Spastic paresis glaucoma mental retardation
- Spastic quadriplegia retinitis pigmentosa mental retardation
- Spasticity mental retardation
- Spasticity multiple exostoses
- Spellacy gibbs watts syndrome
- Spermatogenesis arrest
- Spherocytosis
- Spheroid body myopathy
- Spherophakia brachymorphia syndrome
- Sphingolipidosis
- Spiegler-Brooke syndrome
- Spielmeyer-Vogt disease
- Spina bifida
- Spina bifida hypospadias
- Spinal atrophy ophthalmoplegia pyramidal syndrome
- Spinal bulbar motor neuropathy
- Spinal bulbar muscular atrophy
- Spinal cord neoplasm
- Spinal dysostosis type Anhalt
- Spinal intradural arachnoid cysts
- Spinal muscular atrophy
- Spinal muscular atrophy type 2
- Spinal muscular atrophy type I with congenital bone fractures
- Spinal muscular atrophy with respiratory distress 1
- Spinal muscular atrophy, Ryukyuan type
- Spinal muscular atrophy, type 3
- Spinal shock
- Spine rigid cardiomyopathy
- Spinocerebellar ataxia 1
- Spinocerebellar ataxia 13
- Spinocerebellar ataxia 14
- Spinocerebellar ataxia 17
- Spinocerebellar ataxia 18
- Spinocerebellar ataxia 19
- Spinocerebellar ataxia 2
- Spinocerebellar ataxia 20
- Spinocerebellar ataxia 21
- Spinocerebellar ataxia 23
- Spinocerebellar ataxia 25
- Spinocerebellar ataxia 26
- Spinocerebellar ataxia 27
- Spinocerebellar ataxia 28
- Spinocerebellar ataxia 3
- Spinocerebellar ataxia 30
- Spinocerebellar ataxia 4
- Spinocerebellar ataxia 5
- Spinocerebellar ataxia 6
- Spinocerebellar ataxia 7
- Spinocerebellar ataxia 8
- Spinocerebellar ataxia amyotrophy deafness
- Spinocerebellar ataxia dysmorphism
- Spinocerebellar ataxia, autosomal recessive 1
- Spinocerebellar ataxia, autosomal recessive 3
- Spinocerebellar ataxia, autosomal recessive 4
- Spinocerebellar ataxia, autosomal recessive 5
- Spinocerebellar ataxia, autosomal recessive 6
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
- Spinocerebellar ataxia, X-linked, 2
- Spinocerebellar ataxia, X-linked, 3
- Spinocerebellar ataxia, X-linked, 4
- Spinocerebellar degeneration corneal dystrophy
- Spinocerebellar degenerescence book type
- Spirochetes disease
- Spirurida Infections
- Spitz nevus
- Spleen neoplasm
- Splenic agenesis syndrome
- Splenic infarcts
- Splenogonadal fusion limb defects micrognatia
- Splenomegaly
- Split hand split foot malformation autosomal recessive
- Split hand split foot mandibular hypoplasia
- Split hand split foot nystagmus
- Split hand urinary anomalies spina bifida
- Split hand/foot malformation X-linked
- Split-hand deformity
- Spondylarthritis
- Spondylarthropathies
- Spondylarthropathy
- Spondylitis
- Spondylo costal dysostosis dandy walker
- Spondylocamptodactyly
- Spondylocarpotarsal synostosis
- Spondylocostal dysostosis, autosomal recessive
- Spondylocostal dysplasia dominant
- Spondyloenchondrodysplasia
- Spondyloepimetaphyseal dysplasia
- Spondyloepimetaphyseal dysplasia congenita, Iraqi
- Spondyloepimetaphyseal dysplasia joint laxity
- Spondyloepimetaphyseal dysplasia with hypotrichosis
- Spondyloepimetaphyseal dysplasia with multiple dislocations
- Spondyloepimetaphyseal dysplasia, Genevieve type
- Spondyloepimetaphyseal dysplasia, sponastrime type
- Spondyloepiphyseal dysplasia
- Spondyloepiphyseal dysplasia nephrotic syndrome
- Spondyloepiphyseal dysplasia tarda
- Spondyloepiphyseal dysplasia tarda progressive art
- Spondyloepiphyseal dysplasia, congenita
- Spondyloepiphyseal dysplasia, Omani type
- Spondylohypoplasia, arthrogryposis and popliteal pterygium
- Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism
- Spondylometaphyseal dysplasia with dentinogenesis imperfecta
- Spondylometaphyseal dysplasia, Algerian type
- Spondylometaphyseal dysplasia, axial
- Spondylometaphyseal dysplasia, 'corner fracture' type
- Spondylometaphyseal dysplasia, east-African type
- Spondylometaphyseal dysplasia, Kozlowski type
- Spondylometaphyseal dysplasia, Sedaghatian type
- Spondylometaphyseal dysplasia, X-linked
- Spondyloperipheral dysplasia short ulna
- Spongiform encephalopathy
- Spontaneous periodic hypothermia
- Spontaneous pneumothorax familial type
- Sporotrichosis
- Spotted fever
- Spranger Schinzel Myers syndrome
- Sprengel deformity
- Squamous cell carcinoma
- SSADH deficiency (succinic semialdehyde dehydrogenase deficiency)
- St. Anthony's fire
- Stachybotrys chartarum
- Stalker chitayat syndrome
- Stampe sorensen syndrome
- Staphylococcal food poisoning
- Staphylococcal toxic shock syndrome
- STAR syndrome
- Stargardt disease 1
- Stargardt disease 3
- Stargardt disease 4
- Status epilepticus
- Steatocystoma multiplex
- Steatocystoma multiplex with natal teeth
- Steinfeld syndrome
- Stenotrophomonas maltophilia
- Sterility due to immotile flagella
- Stern Lubinsky Durrie syndrome
- Sternal cleft
- Sternal cyst vascular anomalies
- Sternal malformation vascular dysplasia associatio
- Steroid dehydrogenase deficiency dental anomalies
- Stevens-Johnson syndrome
- Stewart Treves syndrome
- Stickler syndrome, type 1
- Stickler syndrome, type 2
- Stickler syndrome, type 3
- Stiff person syndrome
- Stiff skin syndrome
- Still's disease
- Stimmler syndrome
- Stocco dos Santos syndrome
- Stoelinga de Koomen Davis syndrome
- Stoll Alembik Dott syndrome
- Stoll alembik finck syndrome
- Stoll geraudel chauvin syndrome
- Stoll kieny dott syndrome
- Stoll Levy Francfort syndrome
- Stomach cancer
- Stomach cancer, childhood
- Stomach cancer, familial
- Storage pool platelet disease
- Storm syndrome
- Stratton garcia young syndrome
- Stratton Parker syndrome
- Streptococcal Group A invasive disease
- Streptococcal Group B invasive disease
- Striatonigral degeneration infantile
- Strongyloidiasis
- Strudwick syndrome
- Stuart factor deficiency, congenital
- Stuccokeratosis
- Sturge-Weber syndrome
- Stuve-Wiedemann syndrome
- Subacute sclerosing panencephalitis
- Subcortical laminar heterotopia
- Subcutaneous panniculitis-like T-cell lymphoma
- Subependymal nodular heterotopia
- Subependymoma
- Subpulmonary stenosis
- Subvalvular aortic stenosis
- Succinate coenzyme Q reductase deficiency of
- Succinic acidemia
- Succinic acidemia lactic acidosis congenital
- Succinyl-CoA acetoacetate transferase deficiency
- Sucrase-isomaltase deficiency, congenital
- Sudden Arrhythmia Death Syndrome
- Sudden infant death syndrome
- Sugarman syndrome
- Sulfite oxidase deficiency
- Summitt syndrome
- SUNCT headache
- Superficial siderosis of the central nervous system
- Superficial spreading melanoma
- Superior mesenteric artery syndrome
- Superior vena cava syndrome
- Supernumerary nipples
- Supraglottic laryngeal cancer
- Supranuclear ocular palsy
- Supratentorial primitive neuroectodermal tumors, childhood
- Supraumbilical midabdominal raphe and facial cavernous hemangiomas
- Susac syndrome
- Sutton disease 2
- Swyer James & McLeod Syndrome
- Swyer syndrome
- Sybert Smith syndrome
- Sydenham's chorea
- Symmastia
- Symmetrical thalamic calcifications
- Symphalangism brachydactyly
- Symphalangism brachydactyly craniosynostosis
- Symphalangism distal
- Symphalangism familial proximal
- Symphalangism short stature accessory testis
- Symphalangism with multiple anomalies of hands and feet
- Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch
- Syncamptodactyly scoliosis
- Syncopal paroxysmal tachycardia
- Syncopal tachyarythmia
- Syncope, familial neurocardiogenic
- Syndactyly
- Syndactyly cataract mental retardation
- Syndactyly Cenani Lenz type
- Syndactyly ectodermal dysplasia cleft lip palate hand foot
- Syndactyly type 5
- Syndactyly type I with microcephaly and mental retardation
- Syndactyly, type 2
- Syndactyly, type 3
- Syndactyly, type v
- Syndactyly-polydactyly-ear lobe syndrome
- Syngnathia cleft palate
- Syngnathia multiple anomalies
- Synostoses, tarsal, carpal, and digital
- Synostosis of talus and calcaneus short stature
- Synovial cancer
- Synovial osteochondromatosis
- Synovial sarcoma
- Synovitis
- Synovitis acne pustulosis hyperostosis osteitis
- Synovitis granulomatous with uveitis and cranial neuropathies
- Syphilitic aseptic meningitis
- Syphilitic myelopathy
- Syringobulbia
- Syringocystadenoma papilliferum
- Syringomas natal teeth oligodontia
- Syringomelia hyperkeratosis
- Syringomyelia
- Systemic candidiasis
- Systemic carnitine deficiency
- Systemic mastocytosis
- Systemic necrotizing angitis
- Tabatznik syndrome
- Takayasu arteritis
- Tako-Tsubo syndrome
- Talipes equinovarus
- Talonavicular coalition
- Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals
- Tang Hsi Ryu syndrome
- Tangier disease
- TAR syndrome
- Tardive dyskinesia
- Tarlov cysts
- TARP syndrome
- Tarsal carpal coalition syndrome
- Tarsal tunnel syndrome
- TAU syndrome
- Taurodontia absent teeth sparse hair
- Taurodontism
- Taurodontism, microdontia, and dens invaginatus
- Tay Sachs disease
- T-cell immunodeficiency, congenital alopecia and nail dystrophy
- T-cell lymphoma 1A
- Teebi Kaurah syndrome
- Teebi Naguib Al Awadi syndrome
- Teebi Shaltout syndrome
- Teebi syndrome
- Teeth noneruption of with maxillary hypoplasia and genu valgum
- Tel Hashomer camptodactyly syndrome
- Telencephalic leukoencephalopathy
- Telfer Sugar Jaeger syndrome
- Temporal arteritis
- Temporal epilepsy, familial
- Temporomandibular ankylosis
- Temtamy preaxial brachydactyly syndrome
- Temtamy syndrome
- TEN
- Tendons, extensor, of fingers, anomalous insertion of
- Testicular cancer
- Testicular cancer, childhood
- Testotoxicosis
- Tetanus
- Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities
- Tetra- amelia X-linked
- Tetra-amelia autosomal recessive
- Tetraamelia multiple malformations
- Tetra-amelia with pulmonary hypoplasia
- Tetrahydrobiopterin deficiencies
- Tetralogy of fallot and glaucoma
- Tetraploidy
- Tetrasomy X
- Thakker Donnai syndrome
- Thalamic degeneration symmetrical infantile
- Thalamic degeneration, symmetric infantile
- Thalamic syndrome
- Thalassemia
- Thalassemia minor
- Thanatophoric dysplasia Glasgow variant
- Thanatophoric dysplasia, type 1
- Thanatophoric dysplasia, type 2
- Thanos Stewart Zonana syndrome
- Theodor Hertz Goodman syndrome
- Thiamine responsive megaloblastic anemia syndrome
- Thickened earlobes with conductive deafness from incus-stapes abnormalities
- Thies Reis syndrome
- Thin ribs tubular bones dysmorphism
- Thiolase deficiency
- Thiopurine S methyltranferase deficiency
- Thomas Jewett Raines syndrome
- Thomas syndrome
- Thompson Baraitser syndrome
- Thong Douglas Ferrante syndrome
- Thoracic celosomia
- Thoracic dysplasia hydrocephalus syndrome
- Thoracic outlet syndrome
- Thoraco abdominal enteric duplication
- Thoraco limb dysplasia Rivera type
- Thoracolaryngopelvic dysplasia
- Thoracopelvic dysostosis
- Thost-Unna palmoplantar keratoderma
- Thrombasthenia
- Thrombasthenia of Glanzmann and Naegeli
- Thrombocytopathy
- Thrombocytopathy asplenia miosis
- Thrombocytopenia cerebellar hypoplasia short stature
- Thrombocytopenia chromosome breakage
- Thrombocytopenia Robin sequence
- Thrombocytopenia X-linked
- Thrombocytopenia, cyclic
- Thrombocytopenic purpura, autoimmune
- Thrombomodulin anomalies, familial
- Thrombotic thrombocytopenic purpura, acquired
- Thrombotic thrombocytopenic purpura, congenital
- Thumb absence hypoplastic halluces
- Thumb absent short stature immune deficiency
- Thumb deformity
- Thumb deformity, alopecia, pigmentation anomaly
- Thumb stiff brachydactyly mental retardation
- Thymic epithelial tumor
- Thymic hyperplasia
- Thymic-Renal-Anal-Lung dysplasia
- Thymoma, childhood
- Thyrocerebral-retinal syndrome
- Thyroglossal tract cyst
- Thyroid agenesis
- Thyroid cancer, anaplastic
- Thyroid cancer, childhood
- Thyroid cancer, familial medullary
- Thyroid cancer, follicular
- Thyroid cancer, Hurthle cell
- Thyroid cancer, medullary
- Thyroid cancer, papillary
- Thyroid hormone plasma membrane transport defect
- Thyrotropin deficiency, isolated
- Tibia absent polydactyly arachnoid cyst
- Tibiae bowed radial anomalies osteopenia fracture
- Tibial aplasia ectrodactyly
- Tibial aplasia ectrodactyly hydrocephalus
- Tibial hemimelia cleft lip palate
- Tick paralysis
- Tick-borne encephalitis
- Tièche-Jadassohn nevus
- Tietz syndrome
- Tietze syndrome
- Tight skin contracture syndrome, lethal
- Tiglic acidemia
- T-Lymphocytopenia
- Togaviridae disease
- Tollner Horst Manzke syndrome
- Tolosa-Hunt syndrome
- Tomaculous neuropathy
- Tome Brune Fardeau syndrome
- Tongue cancer
- Toni-Debre-Fanconi syndrome
- Toni-Fanconi syndrome
- Tonoki syndrome
- TORCH syndrome
- Toriello Lacassie Droste syndrome
- Toriello syndrome
- Toriello-Carey syndrome
- Toriello-Higgins-Miller syndrome
- Torsion dystonia
- Torsion dystonia 7
- Torsion dystonia with onset in infancy
- Torticollis keloids cryptorchidism renal dysplasia
- Torticollis, familial
- Torulopsis
- Total Hypotrichosis, Mari type
- Touraine-Solente-Golé syndrome
- Townes-Brocks syndrome
- Toxic Conjunctivitis
- Toxocariasis
- Tracheal agenesis
- Tracheal agenesis without tracheoesophageal fistula
- Tracheobronchomalacia
- Tracheobronchomegaly
- Tracheobronchopathia osteoplastica
- Tracheoesophageal fistula
- Tracheoesophageal fistula symphalangism
- Tracheophageal fistula hypospadias
- Tranebjaerg Svejgaard syndrome
- Transcobalamin 2 deficiency
- Transient bullous dermolysis of the newborn
- Transient erythroblastopenia of childhood
- Transient Global Amnesia
- Transient neonatal arthrogryposis
- Transitional cell carcinoma
- Transplacental infections
- Transposition of great arteries
- Transverse limb deficiency hemangioma
- Transverse myelitis
- Transverse myelitis neuromyelitis optica
- Treacher Collins syndrome
- Treft Sanborn Carey syndrome
- Trehalase deficiency
- Tremor hereditary essential, 1
- Tremor hereditary essential, 2
- Tremors, nystagmus and duodenal ulcers
- Treponema infection
- Trichinellosis
- Tricho odonto onycho dermal syndrome
- Tricho odonto onychodysplasia syndactyly dominant type
- Tricho onychic dysplasia
- Tricho onycho hypohidrotic dysplasia
- Tricho retino dento digital syndrome
- Trichodental syndrome
- Tricho-dento-osseous syndrome
- Tricho-dento-osseous syndrome 1
- Trichodermodysplasia dental alterations
- Trichodysplasia xeroderma
- Trichoepithelioma multiple familial 1
- Trichoepithelioma multiple familial 2
- Trichofolliculoma
- Tricho-hepato-enteric syndrome
- Trichomalacia
- Trichomegaly cataract hereditary spherocytosis
- Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina
- Trichoodontoonychial dysplasia
- Trichorhinophalangeal syndrome type 1
- Trichorhinophalangeal syndrome type 2
- Trichorhinophalangeal syndrome type 3
- Trichorrhexis nodosa syndrome
- Trichoscyphodysplasia
- Trichostasis spinulosa
- Trichothiodystrophy
- Trichothiodystrophy sun sensitivity
- Trichotillomania
- Tricuspid atresia
- Trigeminal neuralgia
- Trigger thumb
- Triglyceride storage disease with impaired long-chain fatty acid oxidation
- Trigonocephaly bifid nose acral anomalies
- Trigonocephaly broad thumbs
- Trigonocephaly ptosis coloboma
- Trigonocephaly ptosis mental retardation
- Trigonomacrocephaly tibial defect polydactyly
- Trihydroxycholestanoylcoa oxidase isolated deficiency
- Trimethylaminuria
- Triopia
- Triose phosphate-isomerase deficiency
- Triphalangeal thumb non opposable
- Triphalangeal thumb polysyndactyly syndrome
- Triphalangeal thumbs brachyectrodactyly
- Triploid Syndrome
- Trisomy 1 mosaicism
- Trisomy 11 mosaicism
- Trisomy 12 mosaicism
- Trisomy 2 & 5 pseudomosaicism
- Trisomy 2 mosaicism
- Trisomy 3 mosaicism
- Trisomy 6
- Trochlear dysplasia
- Tropical Spastic Paraparesis
- Tropical sprue
- Trueb Burg Bottani syndrome
- Trypanosomiasis, Human East-African
- Trypanosomiasis, Human West-African
- Tsao Ellingson syndrome
- Tsukahara Azuno Kajii syndrome
- Tsukahara Kajii syndrome
- Tsukuhara syndrome
- Tuberculosis
- Tuberculous meningitis
- Tuberculous uveitis
- Tuberous sclerosis
- Tuberous sclerosis, type 1
- Tuberous sclerosis, type 2
- Tubulointerstitial nephritis and uveitis
- Tucker syndrome
- Tuffli Laxova syndrome
- Tufted angioma
- Tukel syndrome
- Tularemia
- Tungiasis
- Tunglang Savage Bellman syndrome
- Turcot syndrome
- Turner syndrome
- Turner-like syndrome
- Twenty-nail dystrophy
- Twin twin transfusion syndrome
- Tylosis
- Type 1 plasminogen deficiency
- Typhoid fever
- Typhus
- Tyrosine transaminase deficiency
- Tyrosinemia
- Tyrosinemia type 1
- Tyrosinemia type 3
- Tyrosine-oxidase temporary deficiency
- Ulerythema ophryogenesis
- Ulna hypoplasia with mental retardation
- Ulna metaphyseal dysplasia syndrome
- Ulnar hypoplasia lobster claw deformity of feet
- Ulnar-mammary syndrome
- Umbilical cord ulceration and intestinal atresia
- Uncombable hair syndrome
- Uniparental disomy
- Uniparental disomy of 6
- Uniparental disomy of 11
- Uniparental disomy of 13
- Uniparental disomy of chromosome 2
- Uniparental disomy, paternal, chromosome 14
- Upington disease
- Upton Young syndrome
- Urachal adenocarcinoma
- Urachal cancer
- Urachal cyst
- Urban Schosser Spohn syndrome
- Urea cycle disorders
- Urethral cancer
- Urethral obstruction sequence
- Urioste Martinez-Frias syndrome
- Urocanase deficiency
- Urofacial syndrome
- Urogenital adysplasia
- Urogenital adysplasia, hereditary
- Uropathy distal obstructive polydactyly
- Urticaria pigmentosa
- Usher syndrome
- Usher syndrome, type 1
- Usher syndrome, type 1B
- Usher syndrome, type 1C
- Usher syndrome, type 1D
- Usher syndrome, type 1E
- Usher syndrome, type 1F
- Usher syndrome, type 2A
- Usher syndrome, type 2B
- Usher syndrome, type 2C
- Usher syndrome, type 3
- Uterine sarcoma
- Uveal diseases
- Uveal melanoma
UA Chapters
U of Wisconsin–Madison
Leigh's Disease
Univ. of Maryland
Cystic Fibrosis
Fordham Univ.
Extrarenal Rhabdoid Tumor
Northwestern U
Niemann-Pick Type C
Princeton Univ.
Aplastic Anemia
U of Notre Dame
Osteosarcoma
Saint Francis U
Apraxia
Univ. of Illinois
Acoustic Neuroma
Ohio St. Univ.
CMT
Boston College
Duchenne muscular dystrophy
N. Carolina St. U
Leukemia
Penn St. Univ.
Kidney Cancer
Univ. of Nebraska
Pediatric Brain Cancer
Coastal Carolina U
TBD
Colgate Univ.
Ependymoma
Kent St. Univ.
TBD
Univ. of Arizona
TBD
Show Your Support...
Shop the UA Store
T-shirts, Sweatshirts, Polo shirts and more...
Join the Team
Help us by joining the fight against rare diseases. Become a member now and start enjoying the benefits today.
Uplifting Athletes News
Friday, May 03, 2013
Uplifting Athletes Blog
PhRMA interview with Scott Shirley
May 22, 2013
The Pharmaceutical Research and Manufacturers of America (PhRMA) represents innovative biopharmaceutical research and di…
President Barack Obama welcomes Hoffman family and 2012 Uplifting Athletes Rare Disease Champion Rex Burkhead to White House
April 29, 2013
Jack Hoffman touched a lot of hearts with his inspirational 69-yard touchdown run during the Nebraska football spring ga…
2013 NFL Draft Recap
April 27, 2013
Penn State University, Ohio State University, Northwestern University, North Carolina State University, Colgate University, University of Maryland, Boston College, University of Nebraska
2013 NFL Draft RECAP: Very proud to say that the 2012 Rare Disease Champion and eight other Uplifting Athletes were s…