Rare Disease Directory S - U
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- 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 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
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