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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
absence of fingerprints-congenital milia syndrome 
acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome 
acne +   
acrogeria 
acrokeratosis verruciformis 
albinism-hearing loss syndrome 
alopecia, isolated +  
aplasia cutis congenita +  
atopic eczema +   
autosomal dominant vibratory urticaria 
autosomal recessive cutis laxa type 2A +  
Becker nevus syndrome +  
blue rubber bleb nevus 
body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency 
CHILD syndrome 
chorea-acanthocytosis 
chronic mucocutaneous candidiasis +  
CLOVES syndrome 
combined immunodeficiency with skin granulomas 
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome 
Cowden disease +  
cutaneous mastocytosis +   
Darier disease 
dermatitis herpetiformis, familial 
dermatosis papulosa nigra 
DK1-congenital disorder of glycosylation 
dyschromatosis universalis hereditaria +  
ectodermal dysplasia syndrome +   
encephalocraniocutaneous lipomatosis 
epidermodysplasia verruciformis +  
epidermolysis bullosa acquisita 
erythrokeratoderma +  
familial acanthosis nigricans 
familial acne inversa +  
familial chilblain lupus +  
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 
familial keratoacanthoma 
familial multiple fibrofolliculoma 
familial multiple nevi flammei 
familial pityriasis rubra pilaris 
familial primary localized cutaneous amyloidosis +  
generalized basaloid follicular hamartoma syndrome 
Generalized junctional epidermolysis bullosa, non-Herlitz type 
H syndrome 
Hailey-Hailey disease 
hereditary angioedema +  
hereditary lipodystrophy +  
hereditary mucosal leukokeratosis +  
hereditary palmoplantar keratoderma +  
hereditary papulotranslucent acrokeratoderma 
hereditary photodermatosis +  
hereditary poikiloderma +  
hereditary sclerosing poikiloderma with tendon and pulmonary involvement 
hyperkeratosis lenticularis perstans 
hyperkeratosis-hyperpigmentation syndrome 
hyperpigmentation with or without hypopigmentation, familial progressive +  
ichthyosis +  
inherited epidermolysis bullosa +  
Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.
inherited ichthyosis +  
isolated anhidrosis with normal sweat glands 
isolated congenital adermatoglyphia 
isolated hyperchlorhidrosis 
Junctional epidermolysis bullosa - pyloric atresia 
Junctional epidermolysis bullosa, Herlitz type 
juvenile hyaline fibromatosis 
keratolytic winter erythema 
keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome 
keratosis pilaris atrophicans +  
lamellar ichthyosis +  
large congenital melanocytic nevus 
Late-onset localized junctional epidermolysis bullosa - intellectual disability 
Legius syndrome 
lichen planus, familial 
lichen sclerosus et atrophicus +  
linear nevus sebaceous syndrome 
linear skin defects with multiple congenital anomalies 
lipoid proteinosis 
LOC syndrome 
Maffucci syndrome 
MEDNIK syndrome 
monilethrix 
multiple benign circumferential skin creases on limbs 1 
neonatal inflammatory skin and bowel disease +  
neurocutaneous melanocytosis 
nevus comedonicus syndrome 
nevus, epidermal +  
oculocutaneous albinism +  
osteopathia striata-pigmentary dermopathy-white forelock syndrome 
PENS syndrome 
phakomatosis pigmentokeratotica 
piebaldism 
poikiloderma with neutropenia 
porokeratosis +  
progressive osseous heteroplasia 
psoriasis +   
psoriasis 14, pustular  
pustulosis palmaris et plantaris 
reticulate pigment disorder +  
scalp defects-postaxial polydactyly syndrome 
schwannomatosis 
sebocystomatosis 
seborrhea-like dermatitis with psoriasiform elements 
seborrheic keratosis +  
segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 
severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 
Sneddon syndrome 
spinocerebellar ataxia type 34 
stiff skin syndrome 
Subcutaneous Panniculitis-Like T-Cell Lymphoma 
syndromic oculocutaneous albinism +  
Tietz syndrome 
vasculitis, lymphocytic, nodular 
X-linked chondrodysplasia punctata 2 
X-linked reticulate pigmentary disorder 

Synonyms
Exact Synonyms: epidermolysis bullosa hereditaria ;   hereditary epidermolysis bullosa
Alternate IDs: MONDO:0019276
Xrefs: GARD:18992 ;   ICD9:757.39 ;   MEDGEN:697573 ;   ORDO:79361 ;   SCTID:402781004 ;   UMLS:C1274224
Definition Sources: Orphanet:79361

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