domingo, 27 de enero de 2019

Skin Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Skin Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

National Center for Advancing and Translational Sciences

Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Skin Diseases

Aagenaes syndrome 
Aarskog syndrome 
Abdominal chemodectomas with cutaneous angiolipomas 
Absence of fingerprints congenital milia 
Acanthosis nigricans - Not a rare disease 
Ackerman syndrome 
Acquired generalized lipodystrophy 
Acral peeling skin syndrome 
Acrodermatitis enteropathica 
Acrogeria, Gottron type 
Acrokeratoelastoidosis of Costa 
Actinic lichen planus 
Acute febrile neutrophilic dermatosis 
Acute intermittent porphyria 
Adams-Oliver syndrome 
Adiposis dolorosa 
ADULT syndrome 
Adult T-cell leukemia/lymphoma 
Al-Gazali-Donnai-Mueller syndrome 
Albinism deafness syndrome 
Alopecia epilepsy oligophrenia syndrome of Moynahan 
Alopecia totalis - Not a rare disease 
Alopecia universalis 
Alopecia, epilepsy, pyorrhea, mental subnormality 
Alopecia-contractures-dwarfism-intellectual disability syndrome 
Alopecia-intellectual disability syndrome 
Ambras syndrome 
Ameloonychohypohidrotic syndrome 
Aminolevulinate dehydratase deficiency porphyria 
Amyopathic dermatomyositis 
Angioma serpiginosum, autosomal dominant 
Angioma serpiginosum, X-linked 
Annular atrophic lichen planus 
Annular lichen planus 
Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges 
Antecubital pterygium 
Aplasia cutis congenita 
Aplasia cutis congenita intestinal lymphangiectasia 
Aplasia cutis congenita of limbs recessive 
Arterial tortuosity syndrome 
Arthrochalasia Ehlers-Danlos syndrome 
Arthrogryposis and ectodermal dysplasia 
Arthrogryposis renal dysfunction cholestasis syndrome 
Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 
Ataxia telangiectasia 
Atrophic lichen planus 
Atrophoderma of Pierini and Pasini 
Atrophoderma vermiculata 
Autoimmune progesterone dermatitis 
Autosomal dominant café au lait spots 
Autosomal dominant deafness-onychodystrophy syndrome 
Autosomal dominant hyper IgE syndrome 
Autosomal dominant palmoplantar keratoderma and congenital alopecia 
Autosomal recessive palmoplantar keratoderma and congenital alopecia 
Bannayan-Riley-Ruvalcaba syndrome 
Barber Say syndrome 
Barraquer-Simons syndrome 
Basaran Yilmaz syndrome 
Bazex-Dupre-Christol syndrome 
Beare-Stevenson cutis gyrata syndrome 
Becker nevus syndrome 
Becker's nevus 
Behçet disease 
Benign eccrine spiradenoma 
Biotinidase deficiency 
Birt-Hogg-Dube syndrome 
Bjornstad syndrome 
Blau syndrome 
Bloom syndrome 
Blue rubber bleb nevus syndrome 
Book syndrome 
Bork Stender Schmidt syndrome 
Brittle cornea syndrome 
Brunsting-Perry syndrome 
Bullous dystrophy hereditary macular type 
Buschke Ollendorff syndrome 
Cafe au lait spots, multiple 
Campomelia Cumming type 
Candidiasis familial chronic mucocutaneous, autosomal recessive 
Cantu syndrome 
Cardiac-Valvular Ehlers-Danlos syndrome 
Cardiofaciocutaneous syndrome 
Cardiomyopathy dilated with woolly hair and keratoderma 
Carney complex 
Cartilage-hair hypoplasia 
Cerebellar ataxia ectodermal dysplasia 
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 
Cerebro-oculo-facio-skeletal syndrome 
Cerebrotendinous xanthomatosis 
Cervical hypertrichosis peripheral neuropathy 
Chanarin-Dorfman syndrome 
Chediak-Higashi syndrome 
Cheilitis glandularis 
CHILD syndrome 
Chromosome 17q11.2 deletion syndrome 
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature 
Chronic granulomatous disease 
Chronic mucocutaneous candidiasis (CMC) - Not a rare disease 
Chronic recurrent multifocal osteomyelitis 
Cicatricial pemphigoid 
Circumferential skin creases Kunze type 
Classical-like Ehlers-Danlos syndrome 
Clouston syndrome 
CLOVES syndrome 
Cobb syndrome 
Cockayne syndrome type I 
Cockayne syndrome type II 
Cockayne syndrome type III 
Combined immunodeficiency with skin granulomas 
Congenital erythropoietic porphyria 
Congenital generalized lipodystrophy 
Congenital generalized lipodystrophy type 2 
Congenital generalized lipodystrophy type 4 
Corneodermatoosseous syndrome 
Corticosteroid-sensitive aseptic abscesses 
Costello syndrome 
Cowden syndrome 
Crandall syndrome 
Cranioectodermal dysplasia 
CREST syndrome 
Cronkhite-Canada disease 
Cutaneous collagenous vasculopathy 
Cutaneous mastocytoma 
Cutaneous polyarteritis nodosa 
Cutaneous sclerosis 
Cutis laxa, autosomal dominant 
Cutis laxa, autosomal recessive type 1 
Cutis marmorata telangiectatica congenita 
Cutis verticis gyrata 
Dahlberg Borer Newcomer syndrome 
Darier disease 
Deafness conductive ptosis skeletal anomalies 
Deafness enamel hypoplasia nail defects 
Deafness-lymphedema-leukemia syndrome 
Deficiency of interleukin-1 receptor antagonist 
Degos 'en cocarde' erythrokeratoderma 
Degos disease 
Dermal eccrine cylindroma 
Dermatitis herpetiformis 
Dermatofibroma - Not a rare disease 
Dermatofibrosarcoma protuberans 
Dermatoosteolysis Kirghizian type 
Dermatopathia pigmentosa reticularis 
Dermatosparaxis Ehlers-Danlos syndrome 
Dermochondrocorneal dystrophy of François 
Diffuse cutaneous systemic sclerosis 
Diffuse dermal angiomatosis 
Disseminated superficial actinic porokeratosis 
Dominant dystrophic epidermolysis bullosa 
DOOR syndrome 
Dowling-Degos disease 
Dubowitz syndrome 
Dykes Markes Harper syndrome 
Dyschromatosis symmetrica hereditaria 1 
Dyschromatosis universalis hereditaria 
Dyskeratosis congenita 
Dyskeratosis congenita autosomal dominant 
Dyskeratosis congenita autosomal recessive 
Dyskeratosis congenita X-linked 
Dystrophic epidermolysis bullosa 
Ectodermal dysplasia skin fragility syndrome 
Ectodermal dysplasia trichoodontoonychial type 
Ectodermal dysplasia with natal teeth Turnpenny type 
Ectodermal dysplasia, hidrotic, Christianson-Fourie type 
Ectropion inferior cleft lip and or palate 
EEC syndrome 
EEM syndrome 
Ehlers-Danlos syndrome, dysfibronectinemic type 
Elastosis perforans serpiginosa 
Ellis-Van Creveld syndrome 
Encephalocraniocutaneous lipomatosis 
Eosinophilic pustular folliculitis 
Epidermodysplasia verruciformis 
Epidermolysa bullosa simplex with muscular dystrophy 
Epidermolysis bullosa 
Epidermolysis bullosa acquisita 
Epidermolysis bullosa simplex 
Epidermolysis bullosa simplex with mottled pigmentation 
Epidermolysis bullosa simplex, Dowling-Meara type 
Epidermolysis bullosa simplex, generalized 
Epidermolysis bullosa simplex, localized 
Epidermolysis bullosa simplex, Ogna type 
Epidermolysis bullosa, lethal acantholytic 
Epidermolytic ichthyosis 
Epidermolytic palmoplantar keratoderma 
Erdheim-Chester disease 
Erythema elevatum diutinum 
Erythema multiforme 
Erythema nodosum, idiopathic 
Erythroderma lethal congenital 
Erythrokeratodermia variabilis et progressiva 
Erythropoietic protoporphyria 
Erythropoietic uroporphyria associated with myeloid malignancy 
Extranodal nasal NK/T cell lymphoma 
Fabry disease 
Facial ectodermal dysplasia 
Familial atypical multiple mole melanoma syndrome - Not a rare disease 
Familial cold autoinflammatory syndrome 
Familial cutaneous collagenoma 
Familial cylindromatosis 
Familial dermographism 
Familial Dupuytren contracture - Not a rare disease 
Familial dysautonomia 
Familial joint instability syndrome 
Familial multiple lipomatosis 
Familial multiple trichodiscomas 
Familial partial lipodystrophy associated with PLIN1 mutations - See Familial partial lipodystrophy 
Familial partial lipodystrophy associated with PPARG mutations 
Familial partial lipodystrophy due to AKT2 mutations - See Familial partial lipodystrophy 
Familial partial lipodystrophy type 2 
Familial partial lipodystrophy type Köbberling 
Familial reactive perforating collagenosis 
Fanconi anemia 
Farber's disease 
Febrile Ulceronecrotic Mucha-Habermann disease 
Fibrodysplasia ossificans progressiva 
Flynn Aird syndrome 
Focal dermal hypoplasia 
Focal facial dermal dysplasia 
Fox-Fordyce disease 
Frontal fibrosing alopecia 
Frontonasal dysplasia with alopecia and genital anomaly - See Frontonasal dysplasia 
GAPO syndrome 
Gardner syndrome 
Gardner-Diamond syndrome 
Gastrocutaneous syndrome 
Gaucher disease perinatal lethal 
Generalized junctional epidermolysis bullosa, non-Herlitz type - See Junctional epidermolysis bullosa 
Generalized pustular psoriasis 
Genuine diffuse phlebectasia 
Geroderma osteodysplastica 
Giant congenital nevus 
Gingival fibromatosis with hypertrichosis 
GM3 synthase deficiency 
Gorlin Chaudhry Moss syndrome 
Graham-Little-Piccardi-Lassueur syndrome 
Granuloma annulare 
Granulomatous rosacea 
Granulomatous slack skin disease 
Griscelli syndrome type 1 
Griscelli syndrome type 2 
Griscelli syndrome type 3 
Grover's disease - Not a rare disease 
Guttate psoriasis 
Hailey-Hailey disease 
Haim-Munk syndrome 
Hair defect-photosensitivity-intellectual disability syndrome 

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