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Term:
epidermolytic hyperkeratosis (DOID:4603)
Annotations: Rat: (7) Mouse: (7) Human: (8) Chinchilla: (7) Bonobo: (8) Dog: (7) Squirrel: (7)
Parent Terms Term With Siblings Child Terms
Achenbach syndrome 
Acneiform Eruptions +   
adiaspiromycosis 
allergic cutaneous vasculitis +   
ancylostomiasis +  
angioedema +   
autosomal recessive congenital ichthyosis 1 +   
autosomal recessive congenital ichthyosis 10  
autosomal recessive congenital ichthyosis 11  
Autosomal Recessive Congenital Ichthyosis 12  
autosomal recessive congenital ichthyosis 13  
autosomal recessive congenital ichthyosis 14  
autosomal recessive congenital ichthyosis 2  
autosomal recessive congenital ichthyosis 3  
autosomal recessive congenital ichthyosis 4A  
autosomal recessive congenital ichthyosis 4B  
autosomal recessive congenital ichthyosis 5  
autosomal recessive congenital ichthyosis 6  
autosomal recessive congenital ichthyosis 7 
autosomal recessive congenital ichthyosis 8  
autosomal recessive congenital ichthyosis 9  
Autosomal Recessive Congenital Ichthyosis, Ichthyin-Related 
Boudhina Yedes Khiari syndrome 
breast disease +   
cercarial dermatitis 
chancroid +  
CHILD Syndrome  
chronic ulcer of skin +   
coenurosis 
contagious pustular dermatitis 
Cutaneous Fistula 
cutaneous lupus erythematosus +   
cutis laxa +   
Dermal Fibrosis  
dermatitis +   
Dermatoleukodystrophy 
dermatomyositis +   
dipetalonemiasis 
Duplication of Eyebrows with Stretchable Skin and Syndactyly 
Ectodermal Dysplasia-Skin Fragility Syndrome  
Eczematous Skin Diseases +   
Elastosis Perforans Serpiginosa 
Elliott Ludman Teebi Syndrome 
endometriosis in scar of skin 
epidermal nevus +   
epidermolytic hyperkeratosis +   
A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas. Mutations in the genes that encode KERATIN-1 and KERATIN-10 have been associated with this disorder.
Erythema +   
erythematosquamous dermatosis 
exanthem +   
FACES Syndrome 
facial dermatosis +   
Facial Ectodermal Dysplasia  
filariasis +   
Flynn Aird Syndrome 
Focal Facial Dermal Dysplasia 4  
Foot Diseases +   
Genetic Skin Diseases +   
granulomatosis with polyangiitis +   
hair disease +   
hand dermatosis +  
hemorrhoid +   
Hernandez Fragoso Syndrome 
ichthyosis +   
Ichthyosis Congenita with Biliary Atresia 
Infectious Skin Diseases +   
juvenile xanthogranuloma 
keratosis +   
Ketoadipicaciduria 
Kimura disease 
leg dermatosis 
lipomatosis +   
localized scleroderma +   
loiasis 
Macroepiphyseal Dysplasia, McAlister Coe Type 
MASS Syndrome  
mastocytosis +   
Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 
Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities 
Metabolic Skin Diseases +   
mongolian spot 
Morgellons Disease 
multicentric reticulohistiocytosis 
multiple cutaneous and mucosal venous malformations  
nail disease +   
necrobiosis lipoidica 
Necrobiotic Disorders +  
Necrolytic Migratory Erythema 
Nephrogenic Fibrosing Dermopathy  
Netherton syndrome  
neutral lipid storage disease +   
noninfectious dermatoses of eyelid +  
Opitz Trigonocephaly Syndrome  
otulipenia  
Papulosquamous Skin Diseases +   
phaeohyphomycosis +  
photosensitivity disease +   
pigmentation disease +   
Prurigo  
Pruritus +   
Pseudoatrophoderma Colli 
reactive cutaneous fibrous lesion +  
Reticular Erythrokeratoderma  
rosacea +   
Roy Maroteaux Kremp Syndrome 
scalp dermatosis +   
sebaceous gland disease +   
Self-Healing Collodion Baby 
Skin Abnormalities +   
skin atrophy 
Skin Neoplasms +   
skin sarcoidosis 
strongyloidiasis  
sweat gland disease +   
systemic scleroderma +   
Ter Haar Syndrome  
tyrosinemia type II  
Upton Young Syndrome 
urticaria +   
vascular skin disease +   
verruciform xanthoma of skin 
vesiculobullous skin disease +   

Synonyms
Exact Synonyms: BCIE ;   BIE ;   Bullous Erythroderma Ichthyosiforme ;   Bullous Erythroderma Ichthyosiformes ;   Bullous Erythroderma Ichthyosiformis Congenita of Brocq ;   Bullous Ichthyosiform Erythroderma ;   Bullous Ichthyosiform Erythrodermas ;   EHK ;   Epidermolytic Hyperkeratoses ;   bullous congenital ichthyosiform erythroderma ;   epidermolytic ichthyosis ;   epidermolytic palmoplantar hyperkeratosis
Primary IDs: MESH:D017488
Alternate IDs: OMIA:001415 ;   OMIM:113800 ;   RDO:0003251
Xrefs: GARD:1039
Definition Sources: MESH:D017488

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