• Q fever
• Qazi Markouizos syndrome
• Quebec platelet disorder
• Quinquaud's decalvans folliculitis

[edit] Ra

[edit] Rab-Rai

• Rabies
• Rabson-Mendenhall syndrome
• Radial defect Robin sequence
• Radial hypoplasia, triphalangeal thumbs and hypospadias
• Radial ray agenesis
• Radial ray hypoplasia choanal atresia
• Radiation induced angiosarcoma of the breast
• Radiation induced meningioma
• Radiation leukemia
• Radiation related neoplasm /cancer
• Radiation syndromes
• Radiation-Induced Brachial Plexopathy
• Radiculomegaly of canine teeth congenital cataract
• Radio digito facial dysplasia
• Radio renal syndrome
• Radiophobia
• Radioulnar synostosis mental retardation hypotonia
• Radioulnar synostosis retinal pigment abnormalities
• Radio-ulnar synostosis type 1
• Radio-ulnar synostosis type 2
• Radius absent anogenital anomalies
• Raine syndrome

[edit] Ram-Ray

• Rambam Hasharon syndrome
• Rambaud Galian syndrome
• Ramer Ladda syndrome
• Ramon Syndrome
• Ramos Arroyo Clark syndrome
• Ramsay Hunt paralysis syndrome
• Rapadilino syndrome
• Rapp-Hodgkin syndrome
• Rasmussen's encephalitis
• Rasmussen Johnsen Thomsen syndrome
• Rasmussen subacute encephalitis
• Ray Peterson Scott syndrome
• Raynaud's disease/phenomenon
• Rayner Lampert Rennert syndrome

[edit] Re

[edit] Rea-Reg

• Reactive airway disease
• Reactive arthritis
• Reactive attachment disorder of early childhood
• Reactive attachment disorder of infancy
• Reactive hypoglycemia
• Reardon Hall Slaney syndrome
• Reardon Wilson Cavanagh syndrome
• Rectal neoplasm
• Rectophobia
• Rectosigmoid neoplasm
• Recurrent laryngeal papillomas
• Recurrent peripheral facial palsy
• Recurrent respiratory papillomatosis
• Reductional transverse limb defects
• Reflex sympathetic dystrophy syndrome
• Reflux esophagitis
• Refractory anemia
• Refsum disease, infantile form
• Refsum Syndrome
• Reginato Shiapachasse syndrome
• Regional enteritis

[edit] Rei

• Reifenstein Syndrome
• Reinhardt Pfeiffer syndrome
• Reiter's Syndrome

[edit] Ren

[edit] Rena

[edit] Renal

[edit] Renal a-Renal g

• Renal adysplasia dominant type
• Renal agenesis meningomyelocele mullerian defect
• Renal agenesis, bilateral
• Renal agenesis
• Renal artery stenosis
• Renal calculi
• Renal caliceal diverticuli deafness
• Renal cancer
• Renal carcinoma, familial
• Renal cell carcinoma
• Renal dysplasia diffuse autosomal recessive
• Renal dysplasia diffuse cystic
• Renal dysplasia limb defects
• Renal dysplasia megalocystis sirenomelia
• Renal dysplasia mesomelia radiohumeral fusion
• Renal failure
• Renal genital middle ear anomalies
• Renal glycosuria

[edit] Renal h-Renal t

• Renal hepatic pancreatic dysplasia Dandy Walker cyst
• Renal hypertension
• Renal osteodystrophy
• Renal rickets
• Renal tubular acidosis progressive nerve deafness
• Renal tubular acidosis, distal, autosomal dominant
• Renal tubular acidosis, distal, autosomal recessive
• Renal tubular acidosis, distal, type 3
• Renal tubular acidosis, distal, type 4
• Renal tubular acidosis, distal
• Renal tubular acidosis
• Renal tubular transport disorders inborn

[edit] Reni-Reno

• Renier Gabreels Jasper syndrome
• Renoanogenital syndrome
• Renoprival hypertension

[edit] Rep-Res

• Repetitive strain injury (RSI)
• Resistance to LH (luteinizing hormone)
• Resistance to thyroid stimulating hormone
• Respiratory acidosis
• Respiratory chain deficiency malformations
• Respiratory distress syndrome, Adult
• Respiratory distress syndrome, infant
• Restless legs syndrome

[edit] Ret

[edit] Reti-Retr

• Reticuloendotheliosis
• Retina disorder
• Retinal degeneration
• Retinal dysplasia X linked
• Retinal telangiectasia hypogammaglobulinemia
• Retinis pigmentosa deafness hypogenitalism
• Retinitis pigmentosa mental retardation deafness
• Retinitis pigmentosa
• Retinitis pigmentosa-deafness
• Retinoblastoma
• Retinohepatoendocrinologic syndrome
• Retinopathy anemia CNS anomalies
• Retinopathy aplastic anemia neurological abnormalities
• Retinopathy pigmentary mental retardation
• Retinopathy, arteriosclerotic
• Retinopathy, diabetic
• Retinoschisis, juvenile
• Retinoschisis, X-linked
• Retinoschisis
• Retrolental fibroplasia
• Retroperitoneal fibrosis
• Retroperitoneal liposarcoma

[edit] Rett

• Rett like syndrome
• Rett syndrome

[edit] Rev-Rey

• Revesz Debuse syndrome
• Reye's syndrome
• Reynolds Neri Hermann syndrome
• Reynolds syndrome

[edit] Rh

• Rh disease
• Rhabditida Infections
• Rhabdoid tumor
• Rhabdomyolysis
• Rhabdomyomatous dysplasia cardiopathy genital anomalies
• Rhabdomyosarcoma 1
• Rhabdomyosarcoma 2
• Rhabdomyosarcoma, alveolar
• Rhabdomyosarcoma, embryonal
• Rhabdomyosarcoma
• Rheumatic fever
• Rheumatism
• Rheumatoid arthritis
• Rheumatoid vasculitis
• Rhizomelic dysplasia type Patterson Lowry
• Rhizomelic pseudopolyarthritis
• Rhizomelic syndrome
• Rhumatoid purpura
• Rhypophobia
• Rhytiphobia

[edit] Ri

[edit] Rib-Rig

• Ribbing disease
• Richards-Rundle syndrome
• Richieri Costa Da Silva syndrome
• Richieri Costa Gorlin syndrome
• Richieri Costa Guion Almeida acrofacial dysostosis
• Richieri Costa Guion Almeida Cohen syndrome
• Richieri Costa Guion Almeida dwarfism
• Richieri Costa Guion Almeida Rodini syndrome
• Richieri Costa Montagnoli syndrome
• Richieri Costa Orquizas syndrome
• Richieri Costa Silveira Pereira syndrome
• Richieri-Costa Colletto Otto syndrome
• Richter syndrome
• Rickets
• Rickettsial disease
• Rickettsiosis
• Rieger syndrome
• Rift Valley fever
• Right atrium familial dilatation
• Right ventricle hypoplasia
• Rigid mask like face deafness polydactyly
• Rigid spine syndrome

[edit] Ril-Riv

• Riley-Day syndrome
• Ringed hair disease
• Ringworm
• Rivera Perez Salas syndrome

[edit] Ro

• Roberts Syndrome
• Robin sequence and oligodactyly
• Robinow Sorauf syndrome
• Robinow syndrome
• Robinson Miller Bensimon syndrome
• Roch-Leri mesosomatous lipomatosis
• Rocky Mountain spotted fever
• Rod myopathy
• Rodini Richieri Costa syndrome
• Rokitansky Kuster Hauser syndrome
• Rokitansky sequence
• Romano-Ward syndrome
• Romberg hemi-facial atrophy
• Rombo syndrome
• Rommen Mueller Sybert syndrome
• Rosai-Dorfman disease
• Rosenberg Chutorian syndrome
• Rosenberg Lohr syndrome
• Roseola infantum
• Rothmund-Thomson syndrome
• Rotor syndrome
• Roussy Levy hereditary areflexic dystasia
• Rowley-Rosenberg syndrome
• Roy Maroteaux Kremp syndrome
• Rozin Hertz Goodman syndrome

[edit] Ru

• Rubella virus antenatal infection
• Rubella, congenital
• Rubella
• Rubeola
• Rubinstein Taybi like syndrome
• Rubinstein-Taybi syndrome (gene promoter involvement)
• Rudd Klimek syndrome
• Rudiger syndrome
• Rumination disorder
• Rupophobia
• Rutledge Friedman Harrod syndrome
• Ruvalcaba Churesigaew Myhre syndrome
• Ruvalcaba syndrome
• Ruvalcaba-Myhre syndrome
• Ruvalcaba-Myhre-Smith syndrome (BRR)
• Ruzicka Goerz Anton syndrome

[edit] Saa-Sal

• Saal Bulas syndrome
• Saal Greenstein syndrome
• Sabinas brittle hair syndrome
• Saccharopinuria
• Sackey Sakati Aur syndrome
• Sacral agenesis
• Sacral defect 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 disorder
• Salivary gland disorders
• Salla disease
• Sallis Beighton syndrome
• Salmonellosis (Salmonella infections)
• Salti Salem syndrome

[edit] Sam-Say

• Sammartino Decreccio syndrome
• Sam Spranger
• Samson Gardner syndrome
• Samson Viljoen syndrome
• Sanderson Fraser syndrome
• Sandhaus Ben Ami syndrome
• Sandhoff disease
• Sandrow Sullivan Steel syndrome
• Sanfilippo syndrome
• Santavuori disease
• Santos Mateus Leal syndrome
• SAPHO syndrome
• Sarcoidosis, pulmonary
• Sarcoidosis
• Sarcoma, Granulocytic
• Sarcosinemia
• Satoyoshi syndrome
• Savisky syndrome
• Saul Wilkes Stevenson syndrome
• Say Barber Hobbs syndrome
• Say Barber Miller syndrome
• Say Carpenter syndrome
• Say Field Coldwell syndrome
• Say Meyer syndrome

[edit] Sc

Sca - Sch - Sci-Scl - Sco-Scr

[edit] Sca

• Scabies
• Scab Face
• SCAD deficiency
• Scalp defects postaxial polydactyly
• Scalp ear nipple syndrome
• Scapuloiliac dysostosis
• Scapuloperoneal myopathy
• SCARF syndrome
• Scarlet fever

[edit] Sch

Scha-Schn - Scho-Schw

[edit] Scha-Schm

• Schaap Taylor Baraitser syndrome
• Schaefer Stein Oshman syndrome
• Schamberg's disease pigmentation disorder
• Schamberg's disease
• Scheie syndrome
• Schereshevskij Turner
• Scheurermann's disease
• Schimke syndrome
• Schindler disease
• Schinzel-Giedion syndrome
• Schinzel syndrome
• Schinzel-Giedion midface retraction syndrome
• Schisis association
• Schistosomiasis
• Schizencephaly
• Schizophrenia
• Schizophrenia mental retardation deafness retinitis
• Schizophrenia, genetic types
• Schlegelberger Grote syndrome
• Schmidt syndrome
• Schmitt Gillenwater Kelly syndrome

[edit] Schn-Schw

• Schneckenbecken dysplasia
• Schofer Beetz Bohl syndrome
• Scholte Begeer Van Essen syndrome
• Schraderman's disease
• Schrander Stumpel Theunissen Hulsmans syndrome
• Schroer Hammer Mauldin syndrome
• Schwannoma, malignant
• Schwannomatosis
• Schwartz Newark syndrome
• Schwartz-Jampel syndrome
• Schwartz-lelek syndrome
• Schweitzer Kemink Malcolm syndrome

[edit] Sci-Scr

• Sciatica
• Scimitar syndrome
• Scleredema
• Scleroatonic myopathy
• Sclerocornea, Syndactyly, ambiguous genitalia
• Scleroderma
• Scleromyxedema
• Sclerosing bone dysplasia mental retardation
• Sclerosing cholangitis
• Sclerosing Lymphocytic Lobulitis
• Sclerosing Mesenteritis
• Sclerosteosis
• Sclerotylosis
• Scoliosis as part of NF
• Scoliosis with unilateral unsegmented bar
• SCOT deficiency
• Scott Bryant Graham syndrome
• Scott syndrome
• Scrapie

[edit] Scu

• Scurvy

[edit] Se

Sea-Sel - Sem-Set - Sev-Sez

[edit] Sea-Sei

• Sea-blue histiocytosis
• Seafood poisoning
• Seaver Cassidy syndrome
• Sebocystomatosis
• Secernentea Infections
• Seckel like syndrome Majoor Krakauer type
• Seckel like syndrome type Buebel
• Seckel syndrome 2
• Seckel syndrome
• Secondary pulmonary hypertension
• Seemanova Lesny syndrome
• Seemanova syndrome type 2
• Seghers syndrome
• Segmental neurofibromatosis
• Segmental vertebral anomalies
• Seizures benign familial neonatal recessive form
• Seizures mental retardation hair dysplasia

[edit] Sel-Seq

• Selective mutism
• Selenium poisoning
• Selig Benacerraf Greene syndrome
• Seminoma
• Semmerkrot Haraldsson Weenaes syndrome
• Sener syndrome
• Sengers Hamel Otten syndrome
• Senior syndrome
• Senior-Loken Syndrome
• Sennetsu Fever
• Sensorineural hearing loss
• Sensory neuropathy type 1
• Sensory integration dysfunction
• Sensory neuropathy
• Sensory radicular neuropathy recessive form
• Senter syndrome
• Seow Najjar syndrome
• Sepsis
• Septooptic dysplasia digital anomalies
• Septo-optic dysplasia
• Sequeiros Sack syndrome

[edit] Ser-Sez

• Seres Santamaria Arimany Muniz syndrome
• Serum sickness
• Serious digitalis intoxication
• Setleis syndrome
• Severe acute respiratory syndrome (SARS)
• Severe combined immunodeficiency (SCID)
• Severe Infantile Axonal Neuropathy
• Sex Chromosome Disorders
• Sezary syndrome
• Sezary's lymphoma

[edit] Sh

Sha-Shi - Sho - Shp-Shy

[edit] Sha-Shi

• Shapiro syndrome
• Sharma Kapoor Ramji syndrome
• Sharp syndrome
• Shaver's Disease
• Sheehan syndrome
• Shigellosis
• Shingles
• Shith Filkins syndrome

[edit] Sho

Shok - Shor - Shou

• Shock

[edit] Shok

• Shokeir syndrome

[edit] Shor

[edit] Short b-Short r

• Short bowel syndrome
• Short broad great toe macrocranium
• Short chain Acyl CoA dehydrogenase deficiency
• Short limb dwarf lethal Colavita Kozlowski type
• Short limb dwarf lethal Mcalister Crane type
• Short limb dwarf oedema iris coloboma
• Short limb dwarfism Al Gazali type
• Short limbs abnormal face congenital heart disease
• Short limbs subluxed knees cleft palate
• Short QT syndrome
• Short rib syndrome Beemer type
• Short rib-polydactyly syndrome, Beermer type
• Short rib-polydactyly syndrome, Majewski type
• Short rib-polydactyly syndrome, Saldino-Noonan type
• Short rib-polydactyly syndrome, Verma-Naumoff type
• Short rib-polydactyly syndrome
• Short ribs craniosynostosis polysyndactyly

[edit] Short s

• Short stature abnormal skin pigmentation mental retardation
• Short stature Brussels type
• Short stature contractures hypotonia
• Short stature cranial hyperostosis hepatomegaly
• Short stature deafness neutrophil dysfunction
• Short stature dysmorphic face pelvic scapula dysplasia
• Short stature heart defect craniofacial anomalies
• Short stature hyperkaliemia acidosis
• Short stature locking fingers
• Short stature mental retardation eye anomalies
• Short stature mental retardation eye defects
• Short stature microcephaly heart defect
• 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 talipes natal teeth
• Short stature valvular heart disease
• Short stature webbed neck heart disease
• Short stature wormian bones dextrocardia
• Short syndrome

[edit] Short t

• Short tarsus absence of lower eyelashes

[edit] Shou

• Shoulder and thorax deformity congenital heart disease
• Shoulder girdle defect mental retardation familial

[edit] Shp-Shy

• Shprintzen Golberg craniosynostosis
• Shprintzen syndrome
• Shulman-Upshaw syndrome
• Shwachman syndrome
• Shwachman-Diamond syndrome
• Shwartzman phenomenon
• Shy-Drager syndrome

[edit] Si

Sia-Sim - Sin-Sit

[edit] Sia-Sim

• Sialadenitis
• Sialidosis type 1 and 3
• Sialidosis
• Sialuria, French type
• Sickle cell anemia
• Sideroblastic anemia, autosomal
• Siderosis
• Siegler Brewer Carey syndrome
• Silengo Lerone Pelizzo syndrome
• Silent sinus syndrome
• Silicosiderosis
• Silicosis
• Sillence syndrome
• Silver-Russell dwarfism
• Silvery hair syndrome
• Simian B virus infection
• Simosa Penchaszadeh Bustos syndrome
• Simpson-Golabi-Behmel syndrome

[edit] Sin-Sit

• Singh Chhaparwal Dhanda syndrome
• Single upper central incisor
• Single ventricular heart
• Singleton Merten syndrome
• Sino-auricular heart block
• Sinus cancer
• Sinus histiocytosis
• Sinus node disease and myopia
• Sipple syndrome
• Sirenomelia
• Sitophobia
• Sitosterolemia
• Situs inversus totalis with cystic dysplasia of kidneys and pancreas
• Situs inversus viscerum-cardiopathy
• Situs inversus, X linked

[edit] Sj-Sn

• Sjögren Larsson syndrome
• Sjögren's syndrome
• Skeletal dysplasia brachydactyly
• Skeletal dysplasia epilepsy short stature
• Skeletal dysplasia orofacial anomalies
• Skeletal dysplasia San diego type
• Skeletal dysplasias
• Skeleto cardiac syndrome with thrombocytopenia
• Sketetal dysplasia coarse facies mental retardation
• Skin peeling syndrome
• Slavotinek Hurst syndrome
• Sly syndrome
• Small cell lung cancer
• Small non-cleaved cell lymphoma
• Smallpox
• Smet Fabry Fryns syndrome
• Smith Fineman Myers syndrome
• Smith Martin Dodd syndrome
• Smith-Magenis Syndrome
• Sneddon Syndrome

[edit] So

• Sociophobia
• Soft tissue sarcoma
• 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

[edit] Sp

Spa - Spe-Sph - Spi - Spl - Spo - Spr

[edit] Spa

Spar - Spas

[edit] Spar

• Sparse hair ptosis mental retardation

[edit] Spas

[edit] Spasm

• Spasmodic dysphonia
• Spasmodic torticollis

Spastic a-Spastic d

• Spastic angina with healthy coronary artery
• Spastic ataxia Charlevoix-Saguenay type
• Spastic diplegia infantile type
• Spastic dysphonia

Spastic p

• Spastic paraparesis deafness
• Spastic paraparesis, infantile
• Spastic paraparesis
• Spastic paraplegia epilepsy mental retardation
• Spastic paraplegia facial cutaneous lesions
• Spastic paraplegia familial autosomal recessive form
• Spastic paraplegia glaucoma precocious puberty
• Spastic paraplegia mental retardation corpus callosum
• Spastic paraplegia nephritis deafness
• Spastic paraplegia neuropathy poikiloderma
• Spastic paraplegia type 1, X-linked
• Spastic paraplegia type 2, X-linked
• Spastic paraplegia type 3, dominant
• Spastic paraplegia type 4, dominant
• Spastic paraplegia type 5A, recessive
• Spastic paraplegia type 5B, recessive
• Spastic paraplegia type 6, dominant
• Spastic paraplegia, familial
• Spastic paresis glaucoma mental retardation
• Spastic quadriplegia retinitis pigmentosa mental retardation
• Spasticity mental retardation
• Spasticity multiple exostoses
• Spatic paraparesis vitiligo premature graying

 Spe-Sph

• Spellacy gibbs watts syndrome
• Spermatogenesis arrest
• Spherocytosis
• Spherophakia brachymorphia syndrome
• Sphingolipidosis

 Spi

Spie - Spin - Spir

 Spie

• Spielmeyer-Vogt disease

 Spin

Spina-Spine - Spino

 Spina-Spine

• Spina bifida
• Spina bifida hypospadias
• Spinal atrophy ophthalmoplegia pyramidal syndrome
• Spinal bulbar motor neuropathy
• Spinal bulbar muscular atrophy
• Spinal cord disorder
• Spinal cord injury
• Spinal cord neoplasm
• Spinal dysostosis type Anhalt
• Spinal muscular atrophy type 1
• Spinal muscular atrophy type 2
• Spinal muscular atrophy type 3
• Spinal muscular atrophy type I with congenital bone fractures
• Spinal muscular atrophy
• Spinal shock
• Spinal stenosis
• Spine rigid cardiomyopathy

 Spino

• Spinocerebellar ataxia (multiple types)
• Spinocerebellar ataxia amyotrophy deafness
• Spinocerebellar ataxia dysmorphism
• Spinocerebellar atrophy type 3
• Spinocerebellar degeneration corneal dystrophy
• Spinocerebellar degenerescence book type

 Spir

• Spirochetes disease
• Spirurida Infections

Spl

• Spleen neoplasm
• Splenic agenesis syndrome
• Splenic-flexure syndrome
• Splenogonadal fusion limb defects micrognatia
• Splenomegaly
• Split hand deformity mandibulofacial dysostosis
• Split hand split foot malformation autosomal reces
• Split hand split foot mandibular hypoplasia
• Split hand split foot nystagmus
• Split hand split foot X linked
• Split hand urinary anomalies spina bifida
• Split-hand deformity

 Spona

• Sponastrime dysplasia

Spondyla-Spondyli

• Spondylarthritis
• Spondylarthropathies
• Spondylarthropathy
• Spondylitis

Spondylo

• Spondylo camptodactyly syndrome
• Spondylo costal dysostosis dandy walker
• Spondylocarpotarsal synostosis
• Spondylocostal dysplasia dominant
• Spondylodysplasia brachyolmia
• Spondyloenchondrodysplasia
• Spondyloepimetaphyseal dysplasia congenita, Iraqi
• Spondyloepimetaphyseal dysplasia congenita, Strudw
• Spondyloepimetaphyseal dysplasia joint laxity
• Spondyloepimetaphyseal dysplasia
• Spondyloepiphyseal dysplasia nephrotic syndrome
• Spondyloepiphyseal dysplasia tarda progressive art
• Spondyloepiphyseal dysplasia tarda
• Spondyloepiphyseal dysplasia, congenital type
• Spondyloepiphyseal dysplasia
• Spondylohypoplasia arthrogryposis popliteal pteryg
• Spondylometaphyseal dysplasia, 'corner fracture' t
• Spondylometaphyseal dysplasia, Schmidt type
• Spondylometaphyseal dysplasia, Sedaghatian type
• Spondylometaphyseal dysplasia, X-linked
• Spondylometaphyseal dysplasia
• Spondyloperipheral dysplasia short ulna

 Spong-Spont

• Spongiform encephalopathy
• Spongy degeneration of central nervous system
• Spontaneous periodic hypothermia
• Spontaneous pneumothorax familial type

 Spor-Spot

• Sporotrichosis
• Spotted fever

 Spr

• Spranger schinzel yers syndrome
• Sprengel deformity

 Sq-Ss

• Squamous cell carcinoma
• SSADH (succinic semialdehyde dehydrogenase deficiency)
• SSPE (subacute sclerosing panencephalitis)

 St

Sta-Ste - Sti-Sto - Str-Stu

• St. Anthony's fire

 Sta-Ste

• Stalker chitayat syndrome
• Stampe sorensen syndrome
• Stargardt's disease
• Steatocystoma multiplex natal teeth
• Steatocystoma multiplex
• Steele Richardson Olszewski syndrome, atypical
• Steinfeld syndrome
• Stein-Leventhal syndrome
• 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

 Sti-Sto

• Stickler syndrome, type 1
• Stickler syndrome, type 2
• Stickler syndrome, type 3
• Stickler syndrome
• Stiff man syndrome
• Stiff skin syndrome
• Still's disease
• Stimmler 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, familial
• Stomach cancer
• Stomatitis
• Storage pool platelet disease
• Stormorken sjaastad langslet syndrome

 Str-Stu

• Strabismus
• Stratton garcia young syndrome
• Stratton parker syndrome
• Streeter's (Amniotic Bands)
• Streptococcus, Group B
• Strep throat
• Striatonigral degeneration infantile
• Strongyloidiasis
• Strudwick Syndrome
• Strumpell-lorrain disease
• Stuart factor deficiency, congenital
• Stuccokeratosis
• Sturge-Weber syndrome
• Stuve Wiedemann dysplasia

 Su

Sub-Sum - Sup-Sut

 Sub-Sum

• Subacute cerebellar degeneration
• Subacute sclerosing leucoencephalitis
• Subacute sclerosing panencephalitis
• Subaortic stenosis short stature syndrome
• Subcortical laminar heterotopia
• Subependymal nodular heterotopia
• Subpulmonary stenosis
• Subvalvular aortic stenosis
• Succinate coenzyme Q reductase deficiency of
• Succinic acidemia lactic acidosis congenital
• Succinic acidemia
• Succinic semialdehyde dehydrogenase deficiency
• Succinyl-CoA acetoacetate transferase deficiency
• Sucrase-isomaltase deficiency
• Sudden infant death syndrome
• Sugarman syndrome
• Sulfatidosis juvenile, Austin type
• Sulfite and xanthine oxydase deficiency
• Sulfite oxidase deficiency
• Summitt syndrome

 Sup-Sut

• Super mesenteric artery syndrome
• Super mesozoic-dysentery complex
• Supranuclear ocular palsy
• Supraumbilical midabdominal raphe and facial cavernous hemangiomas
• Suriphobia
• Susac syndrome
• Sutherland Haan syndrome
• Sutton disease II
• Sutton's Disease II

 Sw

• Sweeley-Klionsky disease
• Sweet syndrome
• Swimmer's ear
• Swyer James and McLeod Syndrome
• Swyer syndrome

 Sy

Syb-Sym - Syn - Syp-Sys

 Syb-Sym

• Sybert Smith syndrome
• Sydenham's chorea
• Symmetrical thalamic calcifications
• Symphalangism brachydactyly craniosynostosis
• Symphalangism brachydactyly
• Symphalangism Cushing type
• 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

 Syn

Sync-Syng - Syno-Synp

 Sync-Syng

• Syncamptodactyly scoliosis
• Syncopal paroxysmal tachycardia
• Syncopal tachyarythmia
• Syncope
• Syndactyly between 4 and 5
• Syndactyly cataract mental retardation
• Syndactyly Cenani Lenz type
• Syndactyly ectodermal dysplasia cleft lip palate hand foot
• Syndactyly type 1 microcephaly mental retardation
• Syndactyly type 2
• Syndactyly type 3
• Syndactyly type 5
• Syndactyly
• Syndactyly-polydactyly-ear lobe syndrome
• Syndrome of inappropraite antidiuretic hormone
• Syndrome X
• Syngnathia cleft palate
• Syngnathia multiple anomalies

 Syno-Synp

• Synostosis of talus and calcaneus short stature
• Synovial cancer
• Synovial osteochondromatosis
• Synovial sarcoma
• Synovialosarcoma
• Synovitis acne pustulosis hyperostosis osteitis
• Synovitis granulomatous uveitis cranial neuropathi
• Synovitis
• Synpolydactyly

Syp-Sys

• Syphilis embryopathy
• Syphilis
• Syringobulbia
• Syringocystadenoma papilliferum
• Syringomas
• Syringomas natal teeth oligodontia
• Syringomelia hyperkeratosis
• Syringomyelia
• Systemic arterio-veinous fistula
• Systemic carnitine deficiency
• Systemic lupus erythematosus
• Systemic mastocytosis
• Systemic necrotizing angeitis
• Systemic sclerosis

T-Tc

• T cell immunodeficiency primary
• Tabatznik syndrome
• Tachycardia
• Taeniasis
• Takayasu arteritis
• Talipes equinovarus
• Tamari Goodman syndrome
• Tang Hsi Ryu syndrome
• Tangier disease
• TAR syndrome
• Tardive dyskinesia
• Tarsal tunnel syndrome
• Taste disorder
• TAU syndrome
• Taurodontia absent teeth sparse hair
• Taurodontism
• Tay syndrome ichthyosis
• Taybi Linder syndrome
• Taybi syndrome
• Tay-Sachs disease
• T-cell lymphoma

Tee-Ten

• Teebi Kaurah syndrome
• Teebi Naguib Alawadi syndrome
• Teebi Shaltout syndrome
• Teebi syndrome
• Teeth noneruption of with maxillary hypoplasia and genu valgum
• Tel Hashomer camptodactyly syndrome
• Telangiectasia ataxia variant V1
• Telangiectasia, hereditary hemorrhagic
• Telangiectasia
• Telecanthus hypertelorism pes cavus
• Telecanthus with associated abnormalities
• Telencephalic leukoencephalopathy
• Telfer Sugar Jaeger syndrome
• Temporal epilepsy, familial
• Temporomandibular ankylosis
• Temporomandibular joint dysfunction (TMJ)
• Temtamy Shalash syndrome
• TEN

Ter-Tet

• Ter Haar Hamel Hendricks syndrome
• Ter Haar syndrome
• Teratocarcinosarcoma
• Teratoma
• Testes neoplasm
• Testotoxicosis
• Tetanus
• Tethered spinal cord disease
• Tetraamelia ectodermal dysplasia
• Tetraamelia multiple malformations
• Tetraamelia pulmonary hypoplasia
• Tetraamelia-syrinx
• Tetrahydrobiopterin deficiencies
• Tetraploidy
• Tetrasomy X

Tha-Thi

• Thakker Donnai syndrome
• Thalamic degeneration symmetrical infantile
• Thalamic degenerescence infantile
• Thalamic syndrome
• Thalassemia major
• Thalassemia minor
• Thalassemia
• Thanatophobia
• Thanatophoric dysplasia cloverleaf skull
• Thanatophoric dysplasia Glasgow variant
• Thanos Stewart Zonana syndrome
• Theodor Hertz Goodman syndrome
• Thiele syndrome
• Thiemann epiphyseal disease
• Thies Reis syndrome
• Thin ribs tubular bones dysmorphism
• Thiolase deficiency
• Thiopurine S methyltranferase deficiency

 Tho

• Thomas Jewett Raines syndrome
• Thomas syndrome
• Thombocytopenia X linked
• 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

 Thr-Thu

• Thrombasthenia
• Thrombocytopathy asplenia miosis
• Thrombocytopathy
• Thrombocytopenia cerebellar hypoplasia short stature
• Thrombocytopenia chromosome breakage
• Thrombocytopenia multiple congenital anomaly
• Thrombocytopenia purpura
• Thrombocytopenia Robin sequence
• Thrombocytopenia
• Thrombocytopenic purpura, autoimmune
• Thrombocytosis
• Thrombomodulin anomalies, familial
• Thrombotic microangiopathy, familial
• Thrush
• Thumb absence hypoplastic halluces
• Thumb absent short stature immune deficiency
• Thumb deformity, alopecia, pigmentation anomaly
• Thumb deformity
• Thumb stiff brachydactyly mental retardation

 Thy

• Thymic carcinoma
• Thymic epithelial tumor
• Thymic renal anal lung dysplasia
• Thymoma
• Thymus neoplasm
• Thyrocerebrorenal syndrome
• Thyroglossal tract cyst
• Thyroid agenesis
• Thyroid cancer
• Thyroid carcinoma, follicular
• Thyroid carcinoma, papillary (TPC)
• Thyroid hormone plasma membrane transport defect
• Thyroid, renal and digital anomalies

 Ti-Tl

• Tibia absent polydactyly arachnoid cyst
• Tibiae bowed radial anomalies osteopenia fracture
• Tibial aplasia ectrodactyly hydrocephalus
• Tibial aplasia ectrodactyly
• Tibial hemimelia cleft lip palate
• Tick paralysis
• Tick-borne encephalitis
• Tièche-Jadassohn nevus
• Tietz syndrome
• Tinnitus
• T-Lymphocytopenia

 Tod-Tot

• Todd's paralysis
• Togaviridae disease
• Tollner Horst Manzke syndrome
• Tolosa-Hunt syndrome
• Toluene antenatal infection
• Tomaculous neuropathy
• Tome Brune Fardeau syndrome
• Tongue neoplasm
• Toni Debre Fanconi maladie
• Toni-Fanconi syndrome
• Topophobia
• TORCH syndrome
• Toriello Carey syndrome
• Toriello Lacassie Droste syndrome
• Toriello syndrome
• Toriello-Higgins-Miller syndrome
• Torres Ayber syndrome
• Torsion dystonia 7
• Torticollis
• Torticollis keloids cryptorchidism renal dysplasia
• Torulopsis
• Tosti Misciali Barbareschi syndrome
• Total Hypotrichosis, Mari type

 Tou-Tox

• Touraine-Solente-Golé syndrome
• Tourette syndrome
• Townes-Brocks syndrome
• Toxic conjunctivitis
• Toxic shock syndrome
• Toxocariasis
• Toxopachyoteose diaphysaire tibio peroniere
• Toxoplasmosis congenital
• Toxoplasmosis

 Tra

• Tracheal agenesis
• Tracheobronchomalacia
• Tracheobronchomegaly
• Tracheobronchopathia osteoplastica
• Tracheoesophageal fistula symphalangism
• Tracheoesophageal fistula
• Tracheophageal fistula hypospadias
• Trachoma
• Tranebjaerg Svejgaard syndrome
• Transcobalamin II deficiency
• Transient erythroblastopenia of childhood
• Transient Global Amnesia
• Transient neonatal arthrogryposis
• Transitional cell carcinoma
• Transplacental infections
• Transposition of great vessels
• Transverse limb deficiency hemangioma
• Transverse myelitis
• TRAPS (TNF-receptor-associated periodic syndrome)
• Traumatophobia

 Tre

• Treacher Collins syndrome
• Treft Sanborn Carey syndrome
• Tremophobia
• Tremor hereditary essential
• Treponema infection
• Trevor disease

 Tria

• Triatrial heart

 Trichi

• Trichinellosis
• Trichinosis

 Tricho

• Tricho dento osseous syndrome type 1
• Tricho odonto onycho dermal syndrome
• Tricho odonto onychodysplasia syndactyly dominant type
• Tricho onychic dysplasia
• Tricho onycho hypohidrotic dysplasia
• Tricho retino dento digital syndrome

Trichod-Trichot

• Trichodental syndrome
• Tricho-dento-osseous syndrome
• Trichodermodysplasia dental alterations
• Trichodysplasia xeroderma
• Trichoepithelioma multiple familial
• Trichofolliculloma
• Tricho-hepato-enteric syndrome
• Trichomalacia
• Trichomegaly cataract hereditary spherocytosis
• Trichomegaly retina pigmentary degeneration dwarfi
• Trichomoniasis
• Trichoodontoonychial dysplasia
• Trichopathophobia
• Trichorhinophalangeal syndrome type I
• Trichorhinophalangeal syndrome type II
• Trichorhinophalangeal syndrome type III
• Trichostasis spinulosa
• Trichothiodystrophy sun sensitivity
• Trichothiodystrophy
• Trichotillomania

 Tricu

• Tricuspid atresia
• Tricuspid dysplasia

Trig-Trip

• Trigeminal neuralgia
• Trigger thumb
• Trigonocephaly bifid nose acral anomalies
• Trigonocephaly broad thumbs
• Trigonocephaly ptosis coloboma
• Trigonocephaly ptosis mental retardation
• Trigonomacrocephaly tibial defect polydactyly
• Trihydroxycholestanoylcoa oxidase isolated deficiency
• Trimethadione antenatal infection
• Trimethylaminuria
• Triopia
• Triose phosphate-isomerase deficiency
• Triphalangeal thumb non opposable
• Triphalangeal thumb polysyndactyly syndrome
• Triphalangeal thumbs brachyectrodactyly
• Triple A syndrome
• Triplo X Syndrome
• Triploid Syndrome
• Triploidy

Tris

• Trismus pseudocamptodactyly syndrome
• Trisomy 1 mosaicism
• Trisomy 11 mosaicism
• Trisomy 12 mosaicism
• Trisomy 14 mosaicism
• Trisomy 2 mosaicism
• Trisomy 3 mosaicism
• Trisomy 6
• Trisomy

 Tro-Try

• Trochlear dysplasia
• Trophoblastic Neoplasms (gestational trophoblastic disease)
• Trophoblastic tumor
• Tropical Spastic Paraparesis
• Tropical sprue
• Troyer syndrome
• Trueb Burg Bottani syndrome
• Trypanophobia
• Trypanosomiasis, east-African
• Trypanosomiasis, west African

 Ts

• Tsao Ellingson syndrome
• Tsukahara Azuno Kajii syndrome
• Tsukahara Kajii syndrome
• Tsukuhara syndrome

Tu-Tw

• Tuberculophobia
• Tuberculosis, pulmonary
• Tuberculosis
• Tuberculous meningitis
• Tuberculous uveitis
• Tuberous Sclerosis, type 1
• Tuberous Sclerosis, type 2
• Tuberous Sclerosis
• Tucker syndrome
• Tuffli Laxova syndrome
• Tufted angioma
• Tularemia
• Tungiasis
• Tunglang Savage Bellman syndrome
• Turcot syndrome
• Turner Kieser syndrome
• Turner Morgani Albright
• Turner-like syndrome
• Turner's syndrome
• Tutuncuoglu syndrome
• Twin twin transfusion syndrome

 Ty-Tz

• Typhoid
• Typhus
• Tyrosinemia
• Tyrosine-oxidase temporary deficiency

 Ud-Up

• UDP-galactose-4-epimerase deficiency
• Uhl anomaly
• Ulbright Hodes syndrome
• Ulcerative colitis
• Ulerythema ophryogenesis
• Ulna and fibula absence with severe limb deficit
• Ulna hypoplasia mental retardation
• Ulna metaphyseal dysplasia syndrome
• Ulnar hypoplasia lobster claw deformity of feet
• Umbilical cord ulceration intestinal atresia
• Uncombable hair syndrome
• Uniparental disomy of 11
• Uniparental disomy of 13
• Uniparental disomy of 14
• Uniparental disomy of 2
• Uniparental disomy of 6
• Uniparental disomy
• Unna-Politzer nevus
• Unna's seborrhoeic eczema
• Upington disease
• Upper limb defect eye and ear abnormalities
• Upton Young syndrome

 Ur

• Urachal cancer
• Urachal cyst
• Uramoron syndrome
• Urban Rogers Meyer syndrome
• Urban Schosser Spohn syndrome
• Urea cycle enzymopathies
• Uremia
• Urethral obstruction sequence
• Uridine monophosphate synthetase deficiency
• Urinary calculi
• Urinary tract neoplasm
• Urioste Martinez Frias syndrome
• Urocanase deficiency
• Urogenital adysplasia
• Urophathy distal obstructive polydactyly
• Urticaria pigmentosa
• Urticaria
• Urticaria-deafness-amyloidosis

Us-Uv

• Usher syndrome, type 1C
• Usher syndrome, type 1D
• Usher syndrome, type 1E
• Usher syndrome, type 2A
• Usher syndrome, type 2B
• Usher syndrome, type 2C
• Usher syndrome, type 3
• Usher syndrome, type IA
• Usher syndrome, type IB
• Usher syndrome
• Uveal diseases
• Uveitis, anterior
• Uveitis, posterior
• Uveitis

Vac-Van

• Vaccinophobia
• VACTERL association with hydrocephaly, X linked
• VACTERL association
• VACTERL hydrocephaly
• Vacuolar myopathy
• Vagina absence of
• Vaginismus
• Vagneur Triolle Ripert syndrome
• Valinemia
• Valproic acid antenatal infection
• Valvular dysplasia of the child
• Van Allen Myhre syndrome
• Van Bogaert-Hozay syndrome
• Van De Berghe Dequeker syndrome
• Van Den Bosch syndrome
• Van Den Ende Brunner syndrome
• Van der Woude syndrome 2
• Van der Woude syndrome
• Van Goethem syndrome
• Van Maldergem Wetzburger Verloes syndrome
• Van Regemorter Pierquin Vamos syndrome
• Vancomycin-resistant enterococcal bacteremia

 Var-Vat

• Varadi Papp syndrome
• Varicella virus antenatal infection
• Varicella Zoster
• Variegate porphyria
• Vas deferens, congenital bilateral aplasia of
• Vascular disruption sequence
• Vascular helix of umbilical cord
• Vascular malformations of the brain
• Vascular malposition
• Vascular purpura
• Vasculitis
• Vasculitis hypersensitivity
• Vasculitis, cutaneous necrotizing
• Vasopressin-resistant diabetes insipidus
• Vasovagal syncope
• Vasquez Hurst Sotos syndrome
• VATER association

 Vei-Ven

• Vein of Galen aneurysmal malformations (VGAM)
• Vein of Galen aneurysmal dilatation (VGAD)
• Velocardiofacial syndrome
• Velofacioskeletal syndrome
• Velopharyngeal incompetence
• Venencie Powell Winkelmann syndrome
• Ventricular extrasystoles perodactyly Robin sequence
• Ventricular familial preexcitation syndrome
• Ventricular fibrillation, idiopathic
• Ventricular septal defect
• Ventriculo-arterial discordance, isolated
• Ventruto Digirolamo Festa syndrome

 Ver-Ves

• Verloes Bourguignon syndrome
• Verloes David syndrome
• Verloes Gillerot Fryns syndrome
• Verloes Van Maldergem Marneffe syndrome
• Verloove Vanhorick Brubakk syndrome
• Verminiphobia
• Vernal keratoconjunctivitis
• Verrucous nevus acanthokeratolytic
• Verrucous nevus
• Vertebral body fusion overgrowth
• Vertebral fusion posterior lumbosacral blepharoptosis
• Vertical talus
• Vestibulocochlear dysfunction progressive familial

Vil-Vis

• Viljoen Kallis Voges syndrome
• Viljoen Smart syndrome
• Viljoen Winship syndrome
• Vipoma
• Viral hemorrhagic fever
• Virilism
• Virilizing ovarian tumor
• Virus associated hemophagocytic syndrome
• Visceral myopathy familial external ophthalmoplegia
• Visceral steatosis
• Viscero-atrial heterotaxia
• Visna Maedi complex

Vit

• Vitamin A embryopathy
• Vitamin B 6 Deficiency
• Vitamin B12 Deficiency
• Vitamin B12 responsive methylmalonic acidemia, cbl A
• Vitamin B12 responsive methylmalonicaciduria
• Vitamin D resistant rickets
• Vitamin E deficiency
• Vitamin E familial isolated, deficiency of
• Vitiligo mental retardation facial dysmorphism uremia
• Vitiligo psychomotor retardation cleft palate facial dysmorphism
• Vitiligo
• Vitreoretinal degeneration
• Vitreoretinochoroidopathy domina

 Vk-Vu

• VKH
• VLCAD deficiency
• Vocal cord dysfunction familial
• Von Gierke disease
• Von Hippel-Lindau disease
• Von Recklinghausen disease
• Von Voss Cherstvoy syndrome
• Von Willebrand disease
• Vulvodynia
• Vulvovaginitis

 W

• W syndrome

 Wa

 Waa-Wan

• Waaler Aarskog syndrome
• Waardenburg syndrome type 1
• Waardenburg syndrome type 2
• Waardenburg syndrome type 2A
• Waardenburg syndrome type 2B
• Waardenburg syndrome type 3
• Waardenburg syndrome, type 4
• Waardenburg syndrome
• Waardenburg type Pierpont
• Wagner's disease
• Wagner-Stickler syndrome
• WAGR syndrome
• Walbaum Titran Durieux Crepin syndrome
• Waldenstrom macroglobulinemia
• Waldmann disease
• Walker Dyson syndrome
• Wallerian degeneration
• Wallis Zieff Goldblatt syndrome
• Wandering spleen

 War-Wat

• Warburg Sjo Fledelius syndrome
• Warburg Thomsen syndrome
• Warburton Anyane Yeboa syndrome
• Warfarin antenatal infection
• Warkany syndrome
• Warman Mulliken Hayward syndrome
• Warm-reacting-antibody hemolytic anemia
• Warts
• Waterhouse-Friderichsen syndrome
• Watermelon stomach
• Watson syndrome

 We

 Wea-Wer

• Weaver Johnson syndrome
• Weaver like syndrome
• Weaver syndrome
• Weaver Williams syndrome
• Weber Parkes syndrome
• Weber Sturge Dimitri syndrome
• Weber-Christian disease
• Webster Deming syndrome
• Wegener's granulomatosis
• Wegmann Jones Smith syndrome
• Weil syndrome
• Weinstein Kliman Scully syndrome
• Weismann Netter Stuhl syndrome
• Weissenbacher Zweymuller syndrome
• Welander distal myopathy, Swedish type
• Weleber Hecht Bigley syndrome
• Wellesley Carmen French syndrome
• Wells Jankovic syndrome
• Wells syndrome
• Werdnig-Hoffmann disease
• Werner's syndrome
• Wernicke Korsakoff syndrome

 Wes

• West Nile virus
• West syndrome
• Westerhof Beemer Cormane syndrome
• Western equine encephalitis
• Westphall disease

 Wh

• Wheat Hypersensitivity
• Whipple disease
• Whitaker syndrome
• White matter hypoplasia corpus callosum agenesia mental retardation
• White sponge nevus
• Whooping cough (Pertussis)
• Whyte Murphy syndrome

 Wi

 Wie-Win

• Wieacker syndrome
• Wiedemann Grosse Dibbern syndrome
• Wiedemann Oldigs Oppermann syndrome
• Wiedemann Opitz syndrome
• Wiedemann Rautenstrauch syndrome
• Wildervanck syndrome
• Wilkes Stevenson syndrome
• Wilkie Taylor Scambler syndrome
• Willebrand disease, acquired
• Willebrand disease
• Willems De vries syndrome
• Williams syndrome
• Wilms tumor and pseudohermaphroditism
• Wilms tumor radial bilateral aplasia
• Wilms' tumor
• Wilms tumor-aniridia syndrome
• Wilson's disease
• Wilson Turner syndrome
• Winchester syndrome
• Winkelman Bethge Pfeiffer syndrome
• Winship Viljoen Leary syndrome
• Winter Harding Hyde syndrome
• Winter Shortland Temple syndrome

 Wis-Wit

• Wisconsin syndrome
• Wiskott-Aldrich syndrome
• Witkop syndrome

Wo-Wy

• Wohlwill-Andrade syndrome
• Wolcott-Rallison syndrome
• Wolff-Parkinson-White syndrome
• Wolf-Hirschhorn syndrome
• Wolfram syndrome
• Wolman disease
• Woodhouse Sakati syndrome
• Woods Black Norbury syndrome
• Woods Leversha Rogers syndrome
• Woolly hair - autosomal recessive
• Woolly hair autosomal recessive
• Woolly hair hypotrichosis everted lower lip outstanding ears
• Woolly hair palmoplantar keratoderma cardiac anomalies
• Woolly hair, congenital
• Wooly hair autosomal recessive
• Wooly hair syndrome
• Worster-Drought syndrome
• Worth syndrome
• Wright Dick syndrome
• Wrinkly skin syndrome
• Writer's cramp
• Wt limb blood syndrome
• Wyburn-Mason's syndrome

 X

• X chromosome, duplication Xq13 1 q21 1
• X chromosome, monosomy Xp22 pter
• X chromosome, monosomy Xq28
• X chromosome, trisomy Xp3
• X chromosome, trisomy Xpter Xq13
• X chromosome, trisomy Xq
• X chromosome, trisomy Xq25
• X fragile site folic acid type

 Xa-Xk

• Xanthic urolithiasis
• Xanthine oxydase deficiency
• Xanthinuria
• Xanthomatosis cerebrotendinous
• Xerocytosis, hereditary
• Xeroderma pigmentosum, type 1
• Xeroderma pigmentosum, type 2
• Xeroderma pigmentosum, type 3
• Xeroderma pigmentosum, type 5
• Xeroderma pigmentosum, type 6
• Xeroderma pigmentosum, type 7
• Xeroderma pigmentosum, variant type
• Xeroderma pigmentosum
• Xeroderma talipes enamel defects
• Xk aprosencephaly
• Xerophthalmia

 Xl

• X-linked adrenal hypoplasia congenita
• X-linked alpha thalassemia mental retardation syndrome (ATR-X)
• X-linked dominant
• X-linked ichthyosis
• X-linked juvenile retinoschisis
• X-linked juvenile retinoschisis
• X-linked lymphoproliferative syndrome
• X-linked mental retardation and macro-orchidism
• X-linked mental retardation associated with marXq2
• X-linked mental retardation Brooks type
• X-linked mental retardation craniofacial abnormal microcephaly club
• X-linked mental retardation De silva type
• X-linked mental retardation Hamel type
• X-linked mental retardation type Gustavson
• X-linked mental retardation type Martinez
• X-linked mental retardation type Raynaud
• X-linked mental retardation type Schutz
• X-linked mental retardation type Snyder
• X-linked mental retardation type Wittner
• X-linked mental retardation-hypotonia
• X-linked severe combined immunodeficiency
• X-linked trait

Xx-Xy

• XX male syndrome
• XY Female
• XY gonadal agenesis syndrome

• Y chromosome deletions
• Yaws
• Yellow fever
• Yellow nail syndrome
• Yersinia pestis
• Yersiniosis
• Yim Ebbin syndrome
• Yolk sac tumor
• Yorifuji Okuno syndrome
• Yoshimura-Takeshita syndrome
• Young Hugues syndrome
• Young Maders syndrome
• Young Mc keever Squier syndrome
• Young Simpson syndrome
• Young Syndrome
• Yunis Varon syndrome
• Yusho Disease
   
• Zadik Barak Levin syndrome
• ZAP70 deficiency
• Zazam Sheriff Phillips syndrome
• Zellweger syndrome
• Zimmerman Laband syndrome
• Zlotogora syndrome
• Zollinger-Ellison syndrome
• Zonular cataract and nystagmus
• Zori Stalker Williams syndrome
• Zunich-Kaye syndrome
• Zuska's Disease

RARE DISEASES

Acrocephalosyndactylia	Acrodermatitis
Addison Disease	Adie Syndrome
Adiposis Dolorosa	Alagille Syndrome
Amylose	Amyotrophic Lateral Sclerosis
Angelman Syndrome	Angina Pectoris, Variant
Angiolymphoid Hyperplasia with Eosinophilia	Arnold-Chiari Malformation
Arthritis, Juvenile Rheumatoid	Asperger Syndrome
Bardet-Biedl Syndrome	Barrett Esophagus
Beckwith-Wiedemann Syndrome	Behcet Syndrome
Bernard-Soulier Syndrome	Bloom Syndrome
Bowen's Disease	Brachial Plexus Neuropathies
Brown-Sequard Syndrome	Burkitt Lymphoma
Carcinoma 256, Walker	Caroli Disease
Chagas Disease	Charcot-Marie-Tooth Disease
Chediak-Higashi Syndrome	Chiari-Frommel Syndrome
Chondrodysplasia Punctata	Choreatic Disorders
Churg-Strauss Syndrome	Colonic Pseudo-Obstruction
Colorectal Neoplasms, Hereditary Nonpolyposis	Craniofacial Dysostosis
Creutzfeldt-Jakob Syndrome	Crohn Disease
Cushing Syndrome
Dandy-Walker Syndrome	De Lange Syndrome
Dementia, Vascular	Dermatitis Herpetiformis
DiGeorge Syndrome	Diffuse Cerebral Sclerosis of Schilder
Duane Retraction Syndrome	Dupuytren's Contracture
Dysautonomia, Familial
Ebstein's Anomaly	Ehlers-Danlos Syndrome
Eisenmenger Complex	Ellis-Van Creveld Syndrome
Encephalitis	Enchondromatosis
Epidermal Necrolysis, Toxic
Fabry Disease	Facial Hemiatrophy
Factor XII Deficiency	Fanconi Anemia
Felty's Syndrome	Fibrous Dysplasia, Polyostotic
Fox-Fordyce Disease	Friedreich Ataxia
Fusobacterium
Gardner Syndrome	Gaucher Disease
Gerstmann Syndrome	Giant Lymph Node Hyperplasia
Gilbert Disease	Glycogen Storage Disease Type I
Glycogen Storage Disease Type II	Glycogen Storage Disease Type IV
Glycogen Storage Disease Type V	Glycogen Storage Disease Type VII
Goldenhar Syndrome	Goodpasture Syndrome
Guillain-Barre Syndrome	Gynatresia
Hallermann's Syndrome	Hallervorden-Spatz Syndrome
Hamartoma Syndrome, Multiple	Hand-Schueller-Christian Syndrome
Hartnup Disease	Hemoglobinuria, Paroxysmal
Hepatic Vein Thrombosis	Hepatolenticular Degeneration
Hereditary Motor and Sensory Neuropathies	Hippel-Lindau Disease
Hirschsprung Disease	Histiocytic Necrotizing Lymphadenitis
Histiocytosis, Langerhans-Cell	Histiocytosis, Sinus
Hodgkin Disease	Horner Syndrome
Huntington Disease	Hyperaldosteronism
Hyperostosis, Diffuse Idiopathic Skeletal	Hypopituitarism
Inappropriate ADH Syndrome	Intestinal Polyps
Isaacs Syndrome
Jaundice, Chronic Idiopathic
Kallmann Syndrome	Kartagener Syndrome
Kearns-Sayer Syndrome	Keratosis Follicularis
Klinefelter Syndrome	Klippel-Feil Syndrome
Klippel-Trenaunay-Weber Syndrome	Kluver-Bucy Syndrome
Korsakoff Syndrome
Lafora Disease	Lambert-Eaton Myasthenic Syndrome
Landau-Kleffner Syndrome	Langer-Giedion Syndrome
Leigh Disease	Lesch-Nyhan Syndrome
Letterer-Siwe Disease	Leukodystrophy, Globoid Cell
Li-Fraumeni Syndrome	Long QT Syndrome
Lymphoma, Mantle-Cell
Machado-Joseph Disease	Mallory-Weiss Syndrome
Marek Disease	Marfan Syndrome
Meckel Diverticulum	Meige Syndrome
Melkersson-Rosenthal Syndrome	Meniere's Disease
Mikulicz' Disease	Miller Fisher Syndrome
Mobius Syndrome	Moyamoya Disease
Mucocutaneous Lymph Node Syndrome	Mucopolysaccharidosis I
Mucopolysaccharidosis II	Mucopolysaccharidosis III
Mucopolysaccharidosis IV	Mucopolysaccharidosis VI
Mullerian Ducts	Multiple Endocrine Neoplasia Type 1
Munchausen Syndrome by Proxy	Muscular Atrophy, Spinal
Nelson Syndrome	Nephritis, Hereditary
Nephroblastoma	Neuroaxonal Dystrophies
Neuromyelitis Optica	Neuronal Ceroid-Lipofuscinosis
Niemann-Pick Diseases	Noonan Syndrome
Optic Atrophies, Hereditary	Osteitis Deformans
Osteochondritis	Osteochondrodysplasias
Osteolysis, Essential
Paget's Disease, Extramammary	Paget's Disease, Mammary
Panniculitis, Nodular Nonsuppurative	Papillon-Lefevre Disease
Paralysis	Pelizaeus-Merzbacher Disease
Pemphigus, Benign Familial	Penile Induration
Pericarditis, Constrictive	Peroxisomal Disorders
Peutz-Jeghers Syndrome	Pick Disease of the Brain
Pierre Robin Syndrome	Pigmentation Disorders
Pityriasis Lichenoides	Poikiloderma Congenitale
Polycystic Ovary Syndrome	Polyendocrinopathies, Autoimmune
Prader-Willi Syndrome	Progeria
Pulmonary Fibrosis	Pupil Disorders
Raynaud Disease	Reiter Disease
Rett Syndrome	Reye Syndrome
Rubinstein-Taybi Syndrome
Sandhoff Disease	Sarcoma, Ewing's
Scheuermann's Disease	Shwartzman Phenomenon
Shy-Drager Syndrome	Sjogren's Syndrome
Sjogren-Larsson Syndrome	Smith-Lemli-Opitz Syndrome
Spinal Muscular Atrophies of Childhood	Stevens-Johnson Syndrome
Sturge-Weber Syndrome	Sweating, Gustatory
Sweet's Syndrome
Takayasu's Arteritis	Tangier Disease
Tay-Sachs Disease	Thromboangiitis Obliterans
Thyroiditis, Autoimmune	Tietze's Syndrome
Togaviridae Infections	Tolosa-Hunt Syndrome
Tourette Syndrome	Turner Syndrome
Uveomeningoencephalitic Syndrome
Waardenburg's Syndrome	Waldenstrom Macroglobulinemia
Wegener's Granulomatosis	Weil Disease
Werner Syndrome	Williams Syndrome
Wiskott-Aldrich Syndrome	Wolff-Parkinson-White Syndrome
Wolfram Syndrome	Wolman Disease
Zellweger Syndrome	Zollinger-Ellison Syndrome

MORE DISEASE LIST