Diseases
Gallery
retinoblastoma syndrome

rhodopsin-associated retinitis pigmentosa

Index
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- A
-
- AA amyloidosis
- AAA syndrome
- ACEIs fetopathy
- achondrogenesis type 2
- achromatopsia
- acquired immune deficiency syndrome
- acquired renal cystic disease
- acral peeling skin syndrome
- acrocapitofemoral dysplasia
- acrodermatitis enteropathica
- acrokeratosis verruciformis
- actinomycosis
- acute appendicitis
- Adams-Oliver syndrome
- adenomyosis
- adenovirus-associated intestinal intussusception
- adolescent idiopathic scoliosis
- adult polyglucosan body disease
- age-related macular degeneration
- Aicardi syndrome
- Aicardi-Goutieres syndromes
- AIDS
- AL amyloidosis
- Alagille disease
- Albright hereditary osteodystrophy
- alcoholic cirrhosis
- alcoholic liver disease
- Alexander disease
- allergic colitis
- allergic eosinophilic proctocolitis
- allograft rejection
- Alpers syndrome
- alpha1-antitrypsin deficiency
- Alport syndrome
- Alstrom syndrome
- Alzheimer disease
- amebiasis
- amelogenesis imperfecta
- amniotic band sequence
- amyotrophic lateral sclerosis
- anauxetic dysplasia
- Andersen disease
- androgen insensitivity
- androgen insentivity syndrome
- androgenetic alopecia
- Angelman syndrome
- angiolymphoid hyperplasia with eosinophilia
- ankylosing spondylitis
- anthrax
- antiphospholipid syndrome
- Antley-Bixler syndrome
- anxiety with panic disorder
- APCHMGC association
- APECED
- Apert syndrome
- aplasia of lacrimal and salivary glands
- ARC syndrome
- arrhythmogenic right ventricular dysplasia
- arterial fibromuscular dysplasia
- arterial hypertension
- arterial tortuosity syndrome
- arthrogryposis multiplex congenita
- Arts syndrome
- arylsulfatase deficiency type metachromatic leokodystrophy
- aspiration pneumonia
- asthma
- ataxia telangiectasia
- atherosclerosis
- ATLD
- atopic dermatitis
- atopy
- atrial fibrillation
- attention-deficit/hyperactivity disorder
- aural atresia
- autism
- autoimmune enteric leiomyositis
- autoimmune enteropathy
- autoimmune hepatitis
- autoimmune hepatitis type 2
- autoimmune lymphoproliferative syndrome
- autoimmune oophoritis
- autoimmune pancreatitis
- autoimmune polyendocrinopathy syndrome type I
- autoimmune polyglandular syndrome type 1
- autoimmune polyglandular syndrome type 2
- autoimmune sclerosing cholangitis
- autoimmune thyroid disease
- autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency
- autosomal dominant cataract
- autosomal dominant hypercholesterolemia
- autosomal dominant periodic fever
- autosomal dominant polycystic kidney disease
- autosomal dominant polycystic liver disease
- autosomal neonatal adrenoleukodystrophy
- autosomal recessive acrorenal syndrome
- autosomal recessive microtia
- autosomal recessive polycystic kidney disease
- autosomal visceral heterotaxy
- B
-
- bacillary angiomatosis
- bacterial endocarditis
- bacterial meningitis
- balanitis xerotica obliterans
- balkan endemic nephropathy
- Bannayan-Riley-Ruvalcaba syndrome
- Bardet-Biedl syndrome
- Barrett esophagus
- Bart-Pumphrey syndrome
- Barth syndrome
- Bartter syndrome
- basal cell nevus syndrome
- Batten disease
- Beckwith-Wiedemann syndrome
- Behcet disease
- benign prostatic hyperplasia
- benign recurrent intrahepatic cholestasis
- Bethlem myopathy
- biotin-responsive basal ganglia disease
- bipolar disorder
- Birt-Hogg-Dube syndrome
- Blackfan-Diamond anemia
- blepharophimosis syndrome
- Bloom syndrome
- blue rubber bleb nevus syndrome
- brachydactyly
- Brody myopathy
- bronchogenic cyst
- brucellosis
- Buerger disease
- bulimia nervosa
- bullous impetigo
- bullous pemphigoid
- Byler disease
- C
-
- CADASIL
- campomelic dysplasia
- candidiases
- cardiac allograft
- cardiac allograft vasculopathy
- cardiofaciocutaneous syndrome
- Carney complex
- Carney triad
- carnitine palmitoyltransferase deficiencies
- carnitine palmitoyltransferase deficiency type 1
- carnitine palmitoyltransferase deficiency type 2
- Caroli disease
- cartilage-hair hypoplasia
- Castleman disease
- cataracts
- cblC type of combined methylmalonic aciduria and homocystinuria
- CD18 deficiency
- CD3Z-associated primary T-cell immunodeficiency
- CD40L deficiency
- CDAGS syndrome
- CDG-Ia
- CDG1B
- CDG1M
- CDG2C
- CDPX1
- CDPX2
- CEDNIK syndrome
- celiac disease
- central core disease
- centronuclear myopathy
- cerebral arteriovenous malformation
- cerebral capillary malformation
- cerebroarterial amyloidosis
- cerebrooculofacioskeletal syndrome type 4
- cerebrooculogacioskeletal syndrome
- cerebrotendinous xanthomatosis
- Chagas disease
- chalazion
- Charcot-Marie-Tooth disease associated with early-onset glaucoma
- Charcot-Marie-Tooth disease type 2D
- Charcot-Marie-Tooth disease type 4B1
- Charcot-Marie-Tooth disease type 4C
- Charcot-Marie-Tooth diseases
- Charcot-Marie-Tooth type 2B disease
- CHARGE association
- Chediak-Higashi disease
- chemical gastritis
- chemotherapy cystitis
- chemotherapy-induced toxic leukoencephalopathy
- cherubism
- chickenpox
- Chikungunya
- childhood asymmetric labium majus enlargement
- childhood asymmetric labium majus enlargement
- childhood cirrhosis in arab israelis
- chondrocalcinosis
- chondrodermatitis nodularis chronica helicis
- chondrodysplasia punctata
- chronic active Epstein-Barr virus infection
- chronic disseminated candidiasis
- chronic distal spinal muscular atrophy
- chronic granulomatous disease
- chronic hepatic allograft rejection
- chronic lung disease of prematurity
- chronic mucocutaneous candidiasis
- chronic obstructive pulmonary disease
- chronic pneumonitis of infancy
- chronic recurrent multifocal osteomyelitis
- chronic renal allograft rejection
- Churg-Strauss disease
- chylomicron retention disease
- CINCA syndrome
- cleidocranial dysplasia
- CNPPB syndrome
- Cockayne syndrome
- coenzyme Q10 deficiency
- Coffin-Lowry syndrome
- COFS syndrome
- Cohen syndrome
- cold-induced sweating syndrome
- collagenous colitis
- colonic angiodysplasia
- colonic CGD
- colonic cystic fibrosis
- combined deficiency of coagulation factors V and VIII
- common variable immune deficiency
- condyloma accuminata
- cone rod dystrophies
- congenital adrenal hyperplasia
- congenital central hypoventilation syndrome
- congenital erythropoietic porphyria
- congenital generalized lipodystrophy
- congenital generalized osteosclerosis with bilateral polymicrogyria
- congenital hyperinsulinism
- congenital idiopathic intestinal pseudo-obstruction
- congenital polycythemia
- congenital self-healing histiocytosis
- Cornelia de Lange syndrome
- coronary atherosclerosis
- cow milk allergy
- Cowden disease
- COX deficiency
- CPT deficiency type 1
- Creutzfeldt-Jakob disease
- Cri du chat syndrome
- Crigler-Najjar disease
- Crisponi syndrome
- Crohn disease
- Crouzon disease
- cryptococcoses
- cryptogenic cirrhosis
- cryptosporidiosis
- crystal-storing histiocytosis
- Cumming syndrome
- cutaneous allograft rejection
- cutaneous blistering diseases
- cutaneous lupus erythematosus
- cutaneous mastocytosis
- cutaneous Rosai-Dorfman disease
- cutaneovisceral angiomatosis
- cutis marmorata telangiectatica congenita
- cyclic neutropenia
- Cystic fibrosis
- cystic fibrosis-associated colonopathy
- cystinosis
- cytomegalovirus colitis
- D
-
- d-2-hydroxyglutaric aciduria
- Danon disease
- Darier disease
- DDP syndrome
- deficiency of lamellar bodies
- Degos disease
- Dejerine-Sottas disease
- dengue
- Dent disease
- Denys-Drash syndrome
- dermatitis herpetiformis
- dermatomyositis
- dermatophytoses
- desmin myopathy
- diabetes mellitus
- diabetic embryopathy
- diffuse neonatal hemangiomatosis
- DiGeorge syndrome
- digestive angiodysplasia
- disseminated trichosporonosis
- disseminated varicella
- distal hereditary motor neuropathy
- distal spinal muscular atrophy type 5
- diversion colitis
- dominant intermediate Charcot-Marie-Tooth
- dominant optic atrophy
- Doyne honeycomb retinal dystrophy
- drug-induced acute hepatitis
- drug-induced hepatitis
- Duane radial ray syndrome
- Dubin-Johnson syndrome
- Duchenne muscular dystrophy
- Dunnigan-type familial partial lipodystrophy
- Dyggve-Melchior-Clausen dysplasia
- dyschromatosis symmetrica hereditaria
- dyskeratosis congenita
- E
-
- EBV-associated lymphoproliferative diseases
- EDS8
- EDSSPH
- EEC syndrome
- Ehlers-Danlos syndromes
- ehrlichiosis
- Elejalde disease
- Ellis-van Creveld disease
- enchondromatosis
- endometriosis
- eosinophilic angiocentric fibrosis
- eosinophilic fasciitis
- eosinophilic polymyositis
- epidermal nevus syndrome
- epidermolysis bullosa simplex
- epidermolysis bullosa with pyloric atresia
- epidermolytic hyperkeratosis
- Erdheim-Chester disease (bone marrow)
- Erdheim-Chester disease (bones)
- essential hypertension
- essential thrombocythemia
- exercise-induced hypoglycemia
- extrahepatic biliary tract atresia
- extralobar pulmonary sequestration
- F
-
- Fabry disease
- facial granulome
- facioscapulohumeral muscular dystrophy
- familial adenomatous polyposis
- familial capillary malformation-arteriovenous malformation
- familial combined hyperlipidemia
- familial dysautonomia
- familial esophageal achalasia
- familial exudative vitreoretinopathy
- familial fatal insomnia
- familial glomuvenous malformation
- familial hemophagocytic lymphohistiocytoses
- familial isolated hyperparathyroidism
- familial juvenile systemic granulomatosis
- familial mediterranean fever
- familial megacalyces
- familial renal tubular dysgenesis
- familial schwannomatosis
- familial spina bifida
- familial splenic asplenia/hypoplasia
- familial thrombotic thrombocytopenic purpura
- familial tumoral calcinosis
- Fanconi disease
- Feingold syndrome
- FENIB
- fetal akinesia sequence
- fetal medullary cystic kidney disease
- fibrinogen storage diseases
- fibrocalculous pancreatic diabetes
- fibroepithelial polyp
- Finnish type of congenital nephrotic syndrome
- FNSCCRCC
- focal adenomatous hyperinsulism
- focal nodular hyperplasia
- FOCCHS-LADD
- food protein-induced enterocolitis
- food-induced eosinophilic proctocolitis
- fragile X mental retardation
- Francois-Neetens fleck corneal dystrophy
- Frasier syndrome
- Friedreich ataxia
- frontotemporal dementia
- Fryns syndrome
- FSGS
- FTDP-17
- Fukuyama congenital muscular dystrophy
- fundus flavimaculatus
- G
-
- G6PD deficiency
- Galloway syndrome
- gamma-hydroxybutyric aciduria
- Gardner syndrome
- Gaucher disease
- GCHAIHA
- generalized eruptive histiocytoma
- generalized eruptive histiocytosis
- generalized lymphatic dysplasia
- generalized vitiligo
- giant axonal neuropathy
- giant-cell arteritis
- GLUT1 deficiency
- gluten-sensitive diseases
- glycogenosis type 2
- glycogenosis type 4
- GM1-gangliosidosis
- gnathodiaphyseal dysplasia
- Goldberg-Shprintzen syndrome
- Goldenhar syndrome
- Good syndrome
- Goodpasture syndrome
- Gordon syndrome
- gout
- GRACILE syndrome
- graft-versus-host disease
- Grange syndrome
- granuloma annulare
- granuloma inguinale
- granulomatous neutrophilic dermatitis
- Graves hyperthyroidism
- Greenberg syndrome
- Greenland eskimo cholestasis
- Greig cephalopolysyndactyly syndrome
- Griscelli disease
- Grover disease
- H
-
- Hailey-Hailey disease
- HANAC syndrome
- Hashimoto thyroiditis
- HDR syndrome
- hemodialysis-associated acquired cystic kidney
- hemolytic uremic syndrome
- hemophilia A
- Henoch-Schonlein purpura
- hepatic adenomatosis
- hepatic allograft rejection
- hepatic ARPKD
- hepatitic candidiasis
- hepatitis A
- hepatitis B
- hepatitis D
- hepatitis E
- hepatitis E
- hereditary angioedema type 3
- hereditary angioedemas
- hereditary hemorrhagic telangiectasia
- hereditary hypofibrinogenemia
- hereditary intraosseous vascular malformation
- hereditary leiomyomatosis and renal cell cancer syndrome
- hereditary mixed polyposis syndrome
- hereditary neurocutaneous angiomatosis
- hereditary sensory neuropathy type I
- Hermansky-Pudlak disease
- hidrotic ectodermal dysplasia type 1
- hidrotic ectodermal dysplasias
- high-bone-mass phenotype
- Hirschsprung disease
- HIV-associated nephropathy
- HIV-associated vasculopathy
- HNPCC
- Holt-Oram syndrome
- homocysteinemia
- homozygous familial hypercholesterolemia
- human immunodeficiency with microcephaly
- Huntington disease
- Hurler disease
- hyaline membrane disease
- hydrolethalus syndrome
- hyper-IgD syndrome
- hyper-IgD syndrome
- hyper-IgG4 disease
- hyperinsulinism-hyperammonemia syndrome
- hyperparathyroidism-jaw tumor syndrome
- hypersensitivity pneumonitis
- hypertensive nephropathy
- hypertriglyceridemia
- hypertrophic cardiomyopathy
- hypoplastic glomerulocystic kidney disease
- hypotrichosis-lymphedema-telangiectasia
- I
-
- IBMPFD
- ICF syndrome
- ICOS deficiency
- idiopathic eosinophilic colitis
- idiopathic eosinophilic endomyocarditis
- idiopathic eosinophilic gastroenteritis
- idiopathic hypereosinophilic syndrome
- idiopathic thrombopenic purpura
- IgA deficiency
- IgA nephropathy
- immunoglobulin heavy chain deposition disease
- immunoglobulin light chains
- inclusion body myopathy-3
- incomplete androgen insensitivity
- indian childhood cirrhosis
- infantile hemangiomatosis
- infantile myofibromatosis
- infantile visceral myopathy
- infantile-onset ascending hereditary spastic paralysis
- infectious endocarditis
- infectious mononucleosis
- interstitial granulomatous dermatitis with arthritis
- intestinal allograft
- intestinal epithelial dysplasia
- intestinal neuronal dysplasia
- intra-abdominal deep soft tissue leiomyoma
- intrahepatic biliary dysgenesis with distal portal ductopenia and proximal biliary ductal dilatation
- intrahepatic cholestasis of pregnancy
- invasive aspergillosis
- invasive candidiasis
- IPEX syndrome
- isolated chronic mucocutaneous candidiasis
- isolated congenital asplenia
- isolated familial keratoconus
- isovaleric acidemia
- Ivemark syndrome
- J
-
- Jackson-Weiss syndrome
- Jaffe-Campanacci syndrome
- Jeune syndrome
- Johanson-Blizzard syndrome
- Joubert syndrome
- JP-HHT syndrome
- juvenile hyaline fibromatosis
- juvenile myoclonic epilepsy
- juvenile nephronophthisis
- juvenile polyposis
- K
-
- Kallmann syndromes
- Kaposi sarcoma
- Kartagener syndrome
- Kawasaki disease
- Keshan disease
- Kimura disease
- Kindler disease
- Klinefelter?s syndrome
- Klippel-Trenaunay syndrome
- Knobloch syndrome
- Kostmann disease
- Krabbe disease
- L
-
- labial Crohn disease
- LADD syndrome
- Lafora disease
- Langerhans cell histiocytosis
- Larsen disease
- laryngeal papillomatosis
- late infantile-onset neuronal ceroid lipofuscinosis type 7
- late-onset central hypoventilation
- lathosterolosis
- LCHAD deficiency
- LDHCP syndrome
- Leber congenital amaurosis
- Leber hereditary optic neuropathy
- Leigh syndrome
- LEOPARD syndrome
- lethal congenital contracture syndrome 2
- lethal congenital contracture syndromes
- lethal contractural syndrome type 3
- lethal neonatal CPT deficiency type 2
- lethal osteosclerotic bone dysplasia
- Li-Fraumeni syndrome
- liboblastomatosis
- lichen planus
- lichen striatus
- LIG4 syndrome
- light chain deposition disease
- linear IgA bullous dermatosis
- lissencephaly type 3
- lissencephaly type I
- listeriosis
- Lobar atrophy and hypertrophy
- low phospholipid-associated cholelithiasis
- Lowe syndrome
- Lyme disease
- lymphogranuloma venereum
- lysinuric protein intolerance
- lysosomal acid lipase deficiency
- M
-
- Maffucci syndrome
- Majeed syndrome
- malaria
- malignant hypertension
- malignant hyperthermia
- mandibuloacral dysplasia
- mannose-binding protein deficiency
- Marfan disease
- Marinesco-Sjögren syndrome
- Martinez-Frias syndrome
- MASA syndrome
- Mast syndrome
- maternal smoking fetopathy
- MCAD deficiency
- McCune-Albright syndrome
- MCKD2
- McKusick-Kaufman syndrome
- measles
- measles gastric infection
- Meckel syndrome
- Meesmann corneal dystrophy
- MEHMO
- MELAS
- melioidosis
- Melnick-Needles syndrome
- MEN2s
- metachromatic leukodystrophies
- methyl-hydroxybutyryl-CoA dehydrogenase deficiency
- microcoria-congenital nephrosis syndrome
- microscopic polyangiitis
- microvillous atrophy
- MIDD
- migraine
- Miller-Dieker syndrome
- minocycline-induced hepatitis
- mitochondrial DNA depletion syndrome
- mitochondrial-neuro-gastro-intestinal encephalomyopathy
- mitral prolapse
- MMIH syndrome
- MODYs
- monilethrix
- monoclonal immunoglobulin deposition disease
- monosomy 1p36
- monosomy X
- Mowat-Wilson syndrome
- mucolipidosis type 2
- mucolipidosis type IIIa
- mucolipidosis type IV
- mucopolysaccharidosis type 3C
- mucosal leishmaniasis
- mucositis
- Muir-Torre syndrome
- multicentric reticulohistiocytosis
- multifocal lymphangioendotheliomatosis
- multiforme erythema
- multigenic disease
- multiminicore disease
- multiple acyl-CoA dehydrogenation deficiency
- multiple cutaneous and mucosal venous malformations
- multiple endocrine neoplasia type 1
- multiple endocrine neoplasia type 2
- multiple intestinal atresias syndrome
- multiple sclerosis
- multiple sulfatase deficiency
- mumps
- muscle-eye-brain disease
- myasthenia gravis
- myeloperoxydase deficiency
- myoclonus-dystonia
- myotonic dystrophies
- myotonic dystrophy
- myotonic dystrophy type 1
- N
-
- NAIC
- nail-patella syndrome
- Nance-Horan syndrome
- necrotizing sarcoid granulomatosis
- nemaline myopathies
- neonatal diabetes mellitus
- neonatal encephalopathy
- neonatal ichthyosis-sclerosing cholangitis syndrome
- neonatal necrotizing enterocolitis
- neonatal surfactant deficiency
- Netherton disease
- neurofibromatosis type 1
- neurofibromatosis type 2
- Niemann-Pick disease type B
- Niemann-Pick disease type C
- Nijmegen breakage syndrome
- nodal cat scratch disease
- nodular regenerative hyperplasia of the liver
- nonsyndromic X-linked mental retardation
- norwegian cholestasis
- NSAID-associated gastritis
- NSAIDs fetopathy
- O
-
- obesity
- obsessive-compulsive disorder
- OLEDAID
- oligomeganephronia
- oligomeganephronic renal hypolasia
- Opitz-Kaveggia syndrome
- ornithine transcarbamyl transferase deficiency
- orofaciodigital syndrome type 1
- orofaciodigital syndrome type 2
- osseous Paget disease
- ossification of the posterior longitudinal ligament of the spine
- osteoarthritis
- osteogenesis imperfecta
- osteoglophonic dysplasia
- osteoporosis-pseudoglioma syndrome
- ovarian failure
- P
-
- pachyonychia congenita type 1
- palissaded granulomatous and neutrophilic dermatitis
- Pallister-Hall syndrome
- palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal
- panlobar nephroblastomatosis
- paraneoplastic pemphigus
- Parkes-Weber syndrome
- Parkinson disease
- paroxysmal nocturnal hemoglobinuria
- partial deletion of 21q22.2-q22.3
- partial hydatiform mole
- parvoviral eryhtoblastopenia
- parvoviral fetopathy
- PCC syndrome
- Pearson syndrome
- Pelizaeus-Merzbacher disease
- Pelizaeus-Merzbacher-like disease
- pemphigus vulgaris
- Pendred syndrome
- penile lichen sclerosus
- pentalogy of Cantrell
- periodic fever
- Perlman syndrome
- perniosis
- Peutz-Jeghers syndrome
- Pfeiffer syndrome
- pilomatricomatosis
- Pitt-Hopkins syndrome
- placental infections
- plasma cell dyscrasia
- pleuropulmonary blastoma and cystic nephroma association
- PLEVA
- POEMS
- polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
- polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
- polycystic ovary syndrome
- post-streptococcal glomerulonephritis
- Prader-Willi syndrome
- premature ovarian failure
- primary biliary cirrhosis
- primary EBV infection
- primary erythermalgia
- primary hemochromatosis
- primary hyperoxaluria
- primary microcephaly
- primary open-angle glaucoma
- primary progressive aphasia
- primary pulmonary hypertension
- primary spontaneous pneumothorax
- progeria
- progressive familial intrahepatic cholestasis type 1
- progressive familial intrahepatic cholestasis type 2
- progressive familial intrahepatic cholestasis type 3
- progressive multifocal leukoencephalopathy
- progressive tubulointerstitial nephritis and chronic cholestatic liver disease
- Proteus syndrome
- pseudomembranous colitis
- psoriasis
- psoriatic arthritis
- PTLDs
- pycnodysostosis
- pyoderma gangrenosum
- R
-
- radiation cystitis
- ranula
- RAPADILINO syndrome
- refractory sprue
- Refsum disease
- relapsing polychondritis
- renal allograft rejection
- renal oncocytomatosis
- renal osteodystrophy
- restless legs syndrome
- retinoblastoma syndrome
- Rett syndrome
- Revesz syndrome
- rhabdoid tumor predisposition syndrome
- rheumatoid arthritis
- rhodopsin-associated retinitis pigmentosa
- Rieger syndrome
- ring chromosome 4
- Roberts syndrome
- Robinow-Sorauf syndrome
- Rocky Mountain spotted fever
- rosacea
- Rosai-Dorfman disease
- RS-SCID
- RSF syndrome
- rubeola
- Rubinstein-Taybi syndrome
- S
-
- Saethre-Chotzen syndrome
- Sandhoff disease
- sarcoidosis
- SARS
- SC phocomelia syndrome
- Scabies
- scedosporiosis
- Schinzel phocomelia syndrome
- schizophrenia
- sebaceous hyperplasia
- Seckel syndrome
- segmental hepatic atrophy
- Senior-Loken syndrome
- severe congenital neutropenias
- short rib-polydactyly syndrome type 1
- short rib-polydactyly syndrome type 4
- short rib-polydactyly syndromes
- short-rib polydactyly syndrome type 2
- short-rib polydactyly syndrome type 3
- Shwachman disease
- sickle cell anemia
- Silver-Russell syndrome
- Simpson-Golabi-Behmel syndrome
- SITCDKP syndrome
- SITRDMF syndrome
- slowed nerve-conduction velocities
- Smith-Lemli-Opitz syndrome
- Smith-Magenis syndrome
- Smith-McCort dysplasia
- Sneddon syndrome
- Sotos syndrome
- SOX10-associated chronic intestinal pseudo-obstruction
- SPG7-associated hereditary spastic paraplegia
- spherocytosis
- spinocerebellar ataxias
- splenic cat scratch disease
- splenic Langerhans cell histiocytosis
- split-hand/foot malformation with long bone deficiencies
- spondylocostal dysostosis
- sporadic visceral myopathy with inclusion bodies
- SRAS
- staphylococcal scalded skin syndrome
- staphylococcal scalded-skin syndrome
- Stargardt disease
- stomatocytosis
- STRA6-associated syndrome
- Sturge-Weber syndrome
- subcutaneous fat necrosis of the newborn
- Sweet syndrome
- syphilis
- systemic bartonellosis
- systemic lupus erythematosus
- systemic mastocytosis
- systemic primary carnitine deficiency
- T
-
- T-, B+, NK- SCID
- TAAD
- Taha syndrome
- Tangier disease
- TAR syndrome
- Tay-Sachs disease
- Teebi syndrome
- tenosynovial chondromatosis
- thanatophoric dysplasias
- thrombotic microangiopathy
- thrombotic thrombocytopenic purpura
- tight skin contracture syndrome
- tinea versicolor
- tissular dysplasia
- Tourette syndrome
- Townes-Brocks syndrome
- transthyretin-associated amyloidosis
- TRAPS
- Treacher-Collins syndrome
- tremor/ataxia syndrome
- trichothiodystrophy
- trichotillomania
- triple X syndrome
- trisomy 13
- trisomy 18
- trisomy 21
- trisomy 22
- trisomy 2p syndrome
- tuberculosis
- tuberous sclerosis
- tufting enteropathy
- tune deafness
- Turcot syndrome
- turkish nonsyndromic paucity of interlobular bile ducts
- type 1 diabetes
- type 2 diabetes
- typhoid fever
- tyrolean infantile cirrhosis
- tyrosinemia
- U
-
- ulcerative colitis
- Ullrich congenital muscular dystrophy
- uncombable hair syndrome
- uric acid nephrolithiasis
- Usher disease type 1
- Usher disease type 3
- V
-
- Van der Woude syndrome
- varicella
- variegated mosaic aneuploidy syndrome
- vasculopathy after bone marrow allograft
- vesicoureteral reflux
- visceral leishmaniasis
- vitiligo
- VLCAD deficiency
- von Hippel-Lindau disease
- W
-
- Waardenburg syndromes
- WAGR syndrome
- Walker-Warburg syndrome
- Weaver syndrome
- Wegener granulomatosis
- Weill-Marchesani syndrome
- Werner syndrome
- West Nile virus encephalomyelitis
- Whipple disease
- Williams-Beuren syndrome
- Wilson disease
- Wiskott-Aldrich syndrome
- Wolcott-Rallison syndrome
- Wolfram syndrome
- Wolman disease
- X
-
- X-linked adrenoleukodystrophy
- X-linked agammaglobulinemia
- X-linked chronic idiopathic intestinal pseudo-obstruction
- X-linked cleft palate with ankyloglossia
- X-linked dominant chondrodysplasia punctata type 2
- x-linked ectodermal dysplasia
- X-linked hyper-IgM syndrome
- X-linked infantile spasms
- X-linked lissencephaly
- X-linked lymphoproliferative disease
- X-linked thrombocytopenia
- X-linked visceral heterotaxy
- xanthinuria type 1
- xanthinuria type 2
- xeroderma pigmentosum
- Z