Concept information
Terme préférentiel
hereditary disease
Concept générique
Concepts spécifiques
- abetalipoproteinemia
- achondrogenesis
- achondroplasia
- acrocephalosyndactylia
- acrodermatitis enteropática
- acrokeratosis verruciformis
- acromesomelic chondrodysplasia
- actinic porokeratosis
- acyl-CoA dehydrogenase deficiency
- adenosine deaminase deficiency
- Aicardi syndrome
- Allgrove syndrome
- alpha-1 antitrypsin deficiency
- Alport syndrome
- amelogenesis imperfecta
- aminoacid disorder
- Angelman syndrome
- anodontia
- APECED syndrome
- apparent mineralocorticoid excess syndrome
- arrhythmogenic right ventricular dysplasia
- arteriohepatic dysplasia
- asphyxiating thoracic dysplasia
- ataxia telangiectasia
- atrophia gyrata
- ATR-X syndrome
- autoimmune lymphoproliferative syndrome
- Bannayan-Riley-Ruvalcaba syndrome
- Barth syndrome
- Bartsocas-Papas syndrome
- basal cell nevus syndrome
- Bazex-Dupré-Christol syndrome
- Behr syndrome
- benign concentric annular macular dystrophy
- Berardinelli lipodystrophy
- Bernard-Soulier syndrome
- Best macular degeneration
- Bietti crystalline retinopathy
- Birt-Hogg-Dubé syndrome
- Blackfan-Diamond disease
- blepharo-cheilo-odontic syndrome
- Bloom syndrome
- blue rubber bleb naevus
- Bourneville syndrome
- brachyolmia
- Brooke-Spiegler cylindroma
- Brugada syndrome
- Bruton's agammaglobulinemia
- bullous ichtyosiform erythroderma
- Buschke-Fischer's keratoderma
- butterfly shaped pigment degeneration
- Byler disease
- CADASIL syndrome
- campomelic dysplasia
- carbohydrate deficient glycoprotein syndrome
- Carney complex
- carnitine O-palmitoyltransferase deficiency
- Carvajal syndrome
- cerebrocostomandibular syndrome
- cerebrotendinous xanthomatosis
- Charcot-Marie-Tooth disease
- Chediak syndrome
- chondroectodermal dysplasia
- choroideremia
- Christ-Siemens-Touraine syndrome
- chronic granulomatous disease
- CINCA syndrome
- cleidocranial dysplasia
- Cockayne syndrome
- Coffin-Lowry syndrome
- combined immune deficiency
- Comel-Netherton syndrome
- congenital adrenal hyperplasia syndrome
- congenital chloride diarrhea
- congenital dyserythropoietic anemia
- congenital paramyotonia
- cornea plana
- Cowden syndrome
- craniodiaphyseal dysplasia
- craniometaphyseal dysplasia
- cri du chat syndrome
- Crigler-Najjar disease
- Crouzon disease
- Currarino syndrome
- cystic fibrosis
- Darier disease
- Darris-Coppez macular chorioretinal degeneration
- De Barsy syndrome
- Dejerine-Sottas neuropathy
- dentatorubropallidoluysian atrophy
- dermochondrocorneal dystrophy of François
- desmosterolosis
- diaphyseal dysplasia with anemia
- diastrophic dysplasia
- DiGeorge syndrome
- disseminated lenticular dermatofibrosis
- distichiasis
- Divry-van Bogaert disease
- Dohi acropigmentation
- dominant multiple epiphyseal dysplasia
- Dorfman-Chanarin syndrome
- Doyne honeycomb retinal degeneration
- Dubin-Johnson disease
- dyschondrosteosis
- dyschromatosis universalis hereditaria
- dyskeratosis congenita
- dysplasia epiphysialis hemimelica
- dyssynergia cerebellia myoclonica
- dystonia musculorum deformans
- dystrophic epidermolysis bullosa
- ectodermal dysplasia
- Ehlers-Danlos syndrome
- epidermodysplasia verruciformis
- epidermolysis bullosa hereditaria letalis
- erythrokeratoderma variabilis
- erythropoietic protoporphyria
- essential hyperlipoproteinemia
- familial adenomatous polyposis coli
- familial cold urticaria
- familial dysalbuminemic hyperthyroxinemia
- familial dysautonomia
- familial dyskeratotic comedones
- familial expansile osteolysis
- familial exsudative vitreoretinopathy
- familial histiocytic dermatoarthritis
- familial parkinsonian syndrome with athymhormia and hypoventilation
- familial recurrent polyseritis
- Fanconi anemia
- fatal familial insomnia
- focal dermal hypoplasia
- fragile X-associated tremor/ataxia syndrome
- frontometaphyseal dysplasia
- fructose intolerance
- fructosemia
- fructosuria
- Fuchs corneal dystrophy
- fucosidosis
- galactosemia
- Galloway syndrome
- Gardner syndrome
- gelatinous drop-like corneal dystrophy
- genetic complement deficiency
- geographical tongue
- Gilbert disease
- Gitelman syndrome
- Glanzmann-Riniker syndrome
- Glanzmann thrombasthenia
- glucose-6-phosphate dehydrogenase deficiency
- glutaric aciduria type I
- glycogenosis
- Goldmann-Favre vitroretinal degeneration
- granular corneal dystrophy
- Grebe type chondrodysplasia
- Groenouw type I corneal dystrophy
- Groenouw type II corneal dystrophy
- Haber syndrome
- Hailey-Hailey disease
- Hallermann-Streiff-François syndrome
- Hanhart syndrome
- harlequin fetus
- hemophilia
- Hennekam syndrome
- hereditary chronic pancreatitis
- hereditary elliptocytosis
- hereditary mucoepithelial dysplasia
- hereditary nonpolyposis colorectal cancer
- hereditary spastic paraplegia
- hereditary tubulopathy
- hereditary tubulopathy aminoaciduria
- hidrotic ectodermal dysplasia
- Holt-Oram syndrome
- H syndrome
- Huntington disease
- Huriez syndrome
- hyalinosis cutis et mucosae
- hydrolethalus syndrome
- hyperimmunoglobulinemia E syndrome
- hyperkalemic periodic paralysis
- hyperkeratosis lenticularis perstans
- hyperoxaluria
- hyperphosphatasia
- hypoalphalipoproteinemia
- hypochondroplasia
- hypophosphatasia
- hypophosphatemic rickets
- hypoplasminogenemia
- hypoxanthine-guanine phosphoribosyltransferase deficiency
- ichthyosis hystrix
- ichthyosis linearis circumflexa
- ichthyosis vulgaris
- Imerslund disease
- immotile cilia syndrome
- immunodysregulation, polyendocrinopathy, enteropathy, X linked syndrome
- incontinentia pigmenti
- iridocorneal mesodermal dysgenesis
- isovaleric acidemia
- Jackson-Lawler pachyonychia
- Jadassohn-Lewandowsky syndrome
- Jervell and Lange-Nielsen syndrome
- Joubert syndrome
- junctional epidermolysis bullosa
- juvenile fibromatosis
- juvenile retinoschisis
- Kabuki syndrome
- Kallmann syndrome
- Kennedy's disease
- Keutel syndrome
- Kindler syndrome
- Klippel-Feil syndrome
- Kostmann syndrome
- Kugelberg-Welander disease
- LADD syndrome
- Larsen syndrome
- laryngo-onycho-cutaneous syndrome
- lattice corneal dystrophy
- Leber amaurosis
- Leigh disease
- leprechaunism
- Lesch-Nyhan syndrome
- leukocyte adhesion deficiency
- Leventine chorioretinal degeneration
- Li-Fraumeni syndrome
- Lin-Gettig syndrome
- lipofuscinosis
- lipoprotein lipase deficiency
- loose anagen hair syndrome
- Lowe syndrome
- lysosomal storage disease
- malignant keratoma
- mandibulofacial dysostosis
- Marfan syndrome
- Marinesco-Sjögren syndrome
- maturity onset diabetes of the young
- May-Hegglin anomaly
- McLeod syndrome
- Meesmann corneal dystrophy
- Meleda disease
- Melnick-Fraser syndrome
- Melnick-Needles osteodysplasia
- Menkes syndrome
- mesomelic dwarfism
- metaphyseal chondrodysplasia
- metatropic dwarfism
- Mibelli porokeratosis
- Michelin tire baby syndrome
- MIDAS syndrome
- mitochondrial disease
- Mohr syndrome
- monilethrix
- Muckle-Wells syndrome
- mucolipidosis
- mucopolysaccharidosis
- Muir-Torre syndrome
- multiple cartilaginous exostosis
- multiple endocrine neoplasia
- multiple endocrine neoplasia type I
- multiple endocrine neoplasia type II
- multiple endocrine neoplasia type III
- multiple synostosis
- muscular dystrophy
- mutilating palmoplantar keratoderma with periorificial keratotic plaques
- nail patella syndrome
- nemaline myopathy
- nephrosialidosis
- neuroaxonal dystrophy
- Nezelof syndrome
- Nijmegen breakage syndrome
- non-bullous ichtyosiform erythroderma
- Noonan syndrome
- Norrie disease
- Omenn syndrome
- omodysplasia
- orocraniodigital syndrome
- Osler-Rendu disease
- osteodysplastic gerodermia
- osteogenesis imperfecta
- osteopetrosis
- otosclerosis
- oxalosis
- pachydermoperiostosis
- Pallister-Hall syndrome
- Papillon-Lefèvre's syndrome
- peeling skin syndrome
- Pelger-Huet anomaly
- Pelizaeus–Merzbacher disease
- Pendred syndrome
- peroxisomal disorders
- Peters syndrome
- Peutz-Jeghers syndrome
- Pfeiffer syndrome
- pigmentary retinopathy
- piropoikilocytosis
- Pitt-Rogers-Danks syndrome
- polycystic hepatorenal disease
- polycystic kidney
- polycystic liver
- popliteal pterygium syndrome
- porphyria
- progressive diaphyseal dysplasia
- progressive erythrokeratoderma
- progressive osseous heteroplasia
- proliferative vitreoretinopathy
- protein C deficiency
- pseudoachondroplasia
- pseudohypoparathyroidism
- pseudoxanthoma elasticum
- pulmonary alveolar microlithiasis
- pyknodysostosis
- Pyle metaphyseal dysplasia
- pyruvate kinase deficiency
- Rapp-Hodgkin syndrome
- recessive multiple epiphyseal dysplasia
- Recklinghausen's neurofibromatosis
- Refsum disease
- Reifenstein syndrome
- Reis-Buckler corneal dystrophy
- renal coloboma syndrome
- renal tubular dysgenesis
- restrictive dermopathy
- retinal dysplasia
- retinitis pigmentosa
- retinitis punctata albescens
- Rombo syndrome
- Rothmund-Thomson syndrome
- Rotor disease
- Saldino-Noonan syndrome
- SAMS syndrome
- Schnyder corneal dystrophy
- Schöpf-Schulz-Passarge syndrome
- sclerosteosis
- Scott syndrome
- Segawa disease
- severe combined immunodeficiency
- short QT syndrome
- Shwachman-Diamond syndrome
- sickle cell anemia
- Siemens ichthyosis bullosa
- Simpson-Golabi-Behmel syndrome
- Sjögren-Larsson syndrome
- Sjögren reticular dystrophy
- Smith-Lemli-Opitz dwarfism
- snail track retinal degeneration
- Sorsby macular degeneration
- spherocytic anemia
- spinocerebellar ataxia
- spinocerebellar heredodegeneration
- split-hand split-foot syndrome
- spondylocostal dysostosis
- spondyloepiphyseal dysplasia
- Stargardt chorioretinal degeneration
- steatocystoma multiplex
- Stickler syndrome
- stiff skin syndrome
- storage disease
- striate palmoplantar keratoderma
- Summerskill disease
- symphalangism
- thalassemia
- Thevenard hereditary acrodystrophic neuropathy
- tomaculous neuropathy
- Touraine centrofacial lentiginosis
- trichorhinophalangeal dysplasia
- trichorhinophalangeal syndrome
- trichothiodystrophy
- Tygstrup disease
- ulnar mammary syndrome
- Unna-Thost palmoplantar keratoderma
- unstable hemoglobin
- Usher syndrome
- Van Allen-Myhre syndrome
- Van der Woude syndrome
- Vohwinkel syndrome
- von Hippel-Lindau disease
- von Willebrand disease
- Wagner vitroretinal degeneration
- Watson syndrome
- Weill-Marchesani syndrome
- Werdnig-Hoffmann disease
- Werner syndrome
- WHIM syndrome
- white sponge nevus
- Wilson disease
- Winchester syndrome
- Wiskott-Aldrich syndrome
- Wolcott-Rallison syndrome
- Wolfram syndrome
- Wolman disease
- xeroderma pigmentosum
Traductions
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français
URI
http://data.loterre.fr/ark:/67375/VH8-N32K7HZ8-D
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