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Genetic disease
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Genetic disease
- Abetalipoproteinemia
- Acatalasemia
- Achondrogenesis
- Achondroplasia
- Acrodermatitis enteropathica
- Acrokeratosis verruciformis
- Thevenard hereditary acrodystrophic neuropathy
- Alcaptonuria
- Alport syndrome
- Amelogenesis imperfecta
- Aminoacid disorder
- Charcot-Marie-Tooth disease
- Kugelberg-Welander disease
- Werdnig-Hoffmann disease
- Hereditary elliptocytosis
- Fanconi anemia
- Sickle cell anemia
- Dyserythropoietic anemia
- Imerslund disease
- Piropoikilocytosis
- Spherocytic anemia
- Von Hippel-Lindau disease
- Divry-Van Bogaert disease
- Rendu-Osler disease
- Aspartylglucosaminuria
- Ataxia telangiectasia
- Behr syndrome
- Bloom syndrome
- Blue rubber bleb naevus
- Norrie disease
- Cerebrocostomandibular syndrome
- Neuronal ceroid lipofuscinosis
- Chediak syndrome
- Metaphyseal chondrodysplasia
- Metaphyseal chondrodysplasia Jansen
- Cartilage Hair hypoplasia
- Schmid metaphyseal chondrodysplasia
- Huntington disease
- Choroideremia
- Cockayne syndrome
- Cowden syndrome
- Spiegler cylindroma
- Mitochondrial disorder
- De Barsy syndrome
- La Leventine chorioretinal degeneration
- Stargardt chorioretinal degeneration
- Darris Coppez macular chorioretinal degeneration
- Hallervorden-Spatz disease
- Goldmann-Favre vitroretinal degeneration
- Sorsby macular degeneration
- Leber amaurosis
- Butterfly shaped pigment degeneration
- Rods and cones retinal degeneration
- Snail track retinal degeneration
- Bietti pigmentary retinal degeneration
- Sjögren retinal degeneration
- Wagner vitroretinal degeneration
- Dermopathia pigmentosa reticularis
- Distichiasis
- Familial dysautonomia
- Dyschondrosteosis
- Rieger iridocorneal dysgenesia
- Dyskeratosis congenita
- Crouzon disease
- Mandibulofacial dysostosis
- Orodigitofacial syndrome
- Chondroectodermal dysplasia Ellis Van Creveld
- Cleidocranial dysplasia
- Anhidrotic ectodermal dysplasia
- Hidrotic ectodermal dysplasia
- Oculodentodigital dysplasia
- Kallmann syndrome
- Dominant multiple epiphyseal dysplasia
- Recessive multiple epiphyseal dysplasia
- Retinal dysplasia
- Spondyloepiphyseal dysplasia
- Dyggve-Melchior-Clausen spondyloepiphyseal dysplasia
- Kniest spondyloepiphyseal dysplasia
- Pseudoachondroplastic spondyloepiphyseal dysplasia
- Spondylometaphyseal dysplasia
- Asphyxiating thoracic dysplasia
- Dyssynergia cerebellia myoclonica
- Dystonia musculorum deformans
- Schnyder corneal dystrophy
- Cornea verticillata
- Meesmann-Wilke corneal dystrophy
- Groenouw type I corneal dystrophy
- Groenouw type II corneal dystrophy
- Reis-Buckler corneal dystrophy
- François dermochondrocorneal dystrophy
- Muscular dystrophy
- Oculopharyngeal muscular dystrophy
- Becker muscular dystrophy
- Duchenne muscular dystrophy
- Emery-Dreifuss muscular dystrophy
- Myotonic dystrophy
- Neuroaxonal dystrophy
- Bernard Soulier disease
- Ehlers-Danlos syndrome
- Epidermodysplasia verruciformis Lewandowsky-Lutz
- Dystrophic epidermolysis bullosa
- Junctional epidermolysis bullosa
- Epidermolysis bullosa hereditaria letalis
- Bullous ichtyosiform erythroderma
- Netherton syndrome
- Non bullous ichtyosiform erythroderma
- Progressive erythrokeratoderma
- Erythrokeratoderma variabilis
- Multiple cartilaginous exostosis
- Split-hand split-foot syndrome
- Juvenile fibromatosis
- Harlequin fetus
- Polycystic liver
- Fructosemia
- Fructosuria
- Fucosidosis
- Galactosemia
- Gardner syndrome
- Osteodysplastic gerodermia
- Geographical tongue
- Glycogenosis
- Glycogenosis IV Andersen
- Glycogenosis III Forbes Cori
- Glycogenosis VI Hers
- Glycogenosis V Mac Ardle
- Glycogenosis II Pompe
- Glycogenosis VII
- Glycogenosis VIII
- Glycogenosis I Von Gierke
- May Hegglin anomaly
- Hanhart syndrome
- Unstable hemoglobin
- Hemophilia
- Hemophilia A
- Hemophilia B
- Hereditary cerebellar ataxia
- Spinocerebellar heredodegeneration
- Friedreich ataxia
- Holt-Oram syndrome
- Epidermolytic hyperkeratosis
- Hyperoxaluria
- Hypoalphalipoproteinemia
- Hypobetalipoproteinemia
- Hypochondroplasia
- Carbohydrate deficient glycoprotein syndrome
- Hypophosphatasia
- Focal dermal hypoplasia
- Ichthyosis hystrix
- Ichthyosis linearis circumflexa
- Ichthyosis vulgaris
- Crigler-Najjar disease
- Dubin-Johnson disease
- Gilbert's disease
- Rotor's disease
- Infantile sex linked agammaglobulinemia
- Di George's syndrome
- Primary lymphopenic immunologic deficiency
- Hereditary immunodeficit Glanzmann
- Autosomal recessive lymphopenia with normal immunoglobulin
- Combined immune deficiency
- Incontinentia pigmenti
- Jarcho-Levin syndrome
- Joubert syndrome
- Kennedy's disease
- Keratoderma palmoplantaris Buschke Fischer
- Keratoderma palmoplantaris Meleda
- Keratoderma palmoplantaris Papillon Lefevre
- Keratoderma palmoplantaris Thost Unna
- Larsen syndrome
- Laurence-Moon-Bardet-Biedl syndrome
- Leprechaunism
- Lesch-Nyhan syndrome
- Pelizaeus-Merzbacher disease
- Sudanophilic leukodystrophy
- Li-Fraumeni syndrome
- Lipofuscinosis
- Lowe syndrome
- Hemophagocytic lymphohistiocytosis
- Majewski syndrome
- Polycystic hepatorenal disease
- Marfan syndrome
- Marinesco-Sjögren syndrome
- Meckel syndrome
- Menkes syndrome
- Mohr syndrome
- Monilethrix
- Muckle syndrome
- Mucolipidosis
- I cell disease
- Mucolipidosis III
- Mucolipidosis IV
- Mucopolysaccharidosis
- Ellis-Van Creveld mucopolysaccharidosis
- Hunter's syndrome
- Hurler's syndrome
- Maroteaux mucopolysaccharidosis
- Morquio's disease
- Morquio-Brailsford mucopolysaccharidosis
- Morquio-Ulrich mucopolysaccharidosis
- San Filippo disease
- San Filippo B disease
- Scheie mucopolysaccharidosis
- Cystic fibrosis
- Muir-Torre syndrome
- Nemaline myopathy
- Basal cell nevus syndrome
- Campomelic dysplasia
- Diastrophic dysplasia
- Mesomelic dwarfism
- Bartter syndrome
- Nephrosialidosis
- Neurofibromatosis Recklinghausen
- Dejerine-Sottas neuropathy
- Noonan syndrome
- Melnick Needles osteodysplasia
- Pyle metaphyseal dysplasia
- Osteogenesis imperfecta
- Nail patella syndrome
- Osteopetrosis
- Otosclerosis
- Oxalosis
- Pachydermoperiostosis
- Hereditary spastic paraplegia
- Hailey Hailey disease
- Pendred syndrome
- Peroxisomal disorders
- Peutz-Jeghers syndrome
- Bourneville syndrome
- Rothmund congenital poikiloderma
- Thomson congenital poikiloderma
- Multiple endocrine neoplasia
- Multiple endocrine neoplasia type I
- Multiple endocrine neoplasia type II
- Multiple endocrine neoplasia type III
- Familial adenomatous polyposis coli
- Actinic porokeratosis
- Linear porokeratosis
- Mibelli porokeratosis
- Porphyria variegata
- Porphyria
- Porphyria cutanea tarda
- Erythropoietic porphyria
- Prader Labhart Willi syndrome
- Erythropoietic protoporphyria
- Pseudohypoparathyroidism
- Pseudoxanthoma elasticum
- Pyknodysostosis
- Hypophosphatemic rickets
- Refsum disease
- Polycystic kidney
- Retinitis pigmentosa
- Retinopathy pigmentosa
- Focal pigment proliferation retinopathy
- Retinopathy punctata albescens
- Juvenile retinoschisis
- Reye syndrome
- Saldino-Noonan syndrome
- Senior syndrome
- Sjögren-Larsson syndrome
- Sphingolipidosis
- Fabry disease
- Farber disease
- Gaucher disease
- Bielchowsky-Jansky disease
- Kufs disease
- Niemann-Pick disease
- Stickler syndrome
- Symphalangism
- Thalassemia
- α-Thalassemia
- α δ-Thalassemia
- β-Thalassemia
- β δ-Thalassemia
- β-Thalassemia intermedia
- Glanzmann thrombasthenia
- Wiskott-Aldrich syndrome
- Usher syndrome
- Familial exsudative vitreoretinopathy
- Werner syndrome
- Willebrand disease
- Wilson disease
- Wolman disease
- Xeroderma pigmentosum
- Hereditary chronic pancreatitis
- Congenital paramyotonia
- Cerebrotendinous xanthomatosis
- Renal coloboma syndrome
- Hereditary tubulopathy aminoaciduria
- Hereditary tubulopathy
- Osteoporosis pseudoglioma syndrome
- Hereditary periodic fever
- Factor X deficiency
- Geleophysic dwarfism
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Multidisciplinary PASCAL Vocabulary