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Ontology Browser

Term:
epidermolytic hyperkeratosis (DOID:4603)
Annotations: Rat: (7) Mouse: (7) Human: (8) Chinchilla: (6) Bonobo: (7) Dog: (6) Squirrel: (6) Pig: (6)
Parent Terms Term With Siblings Child Terms
ichthyosis +     
Acquired Ichthyosis 
Actinic Prurigo  
adermatoglyphia  
Albinism +   
Annular Erythema 
arterial tortuosity syndrome  
atopic dermatitis +   
Atrophia Maculosa Varioliformis Cutis, Familial 
Autoinflammation with Arthritis and Dyskeratosis  
autosomal recessive congenital ichthyosis +   
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 
Bloch-Sulzberger syndrome +   
bullous congenital ichthyosiform erythroderma  
Buschke-Ollendorff syndrome  
Camptodactyly-Ichthyosis Syndrome 
Cataract and Congenital Ichthyosis 
cherubism +   
CHIME syndrome  
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
Congenital Ichthyosis with Trichothiodystrophy +   
Cutaneous Bullous Amyloidosis 
cutaneous porphyria  
cutis laxa +   
Deal Barratt Dillon Syndrome 
Defect in Hyaluronan Metabolism 
Dowling-Degos disease +   
Dykes Markes Harper Syndrome 
dyschromatosis universalis hereditaria +   
dyskeratosis congenita +   
ectodermal dysplasia +   
Ehlers-Danlos syndrome +   
epidermolysis bullosa +   
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.
erythrokeratodermia variabilis +   
Erythrokeratodermia with Ataxia 
Familial Reactive Perforating Collagenosis 
geroderma osteodysplasticum  
Grover's Disease 
Hailey-Hailey disease  
Hepatic Porphyrias +   
Hereditary Autoinflammatory Diseases +   
hereditary mucosal leukokeratosis  
Hereditary Sclerosing Poikiloderma +   
HID Syndrome  
Histiocytic Dermatoarthritis 
hyaline fibromatosis syndrome  
Ichthyosis Cheek Eyebrow Syndrome 
Ichthyosis Exfoliativa  
Ichthyosis Hystrix Gravior 
Ichthyosis Hystrix, Curth Macklin Type  
Ichthyosis Prematurity Syndrome  
Ichthyosis Tapered Fingers Midline Groove Up 
ichthyosis vulgaris +   
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
Ichthyosis, Spastic Quadriplegia, and Mental Retardation  
Ichthyosis, Split Hairs, and Amino Aciduria 
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES  
IFAP Syndrome +   
Isolated Osteopoikilosis 
Jagell Holmgren Hofer Syndrome 
Juvenile Spring Eruption of Ears 
Keratitis-Ichthyosis-Deafness Syndrome +   
Keratolytic Winter Erythema  
keratosis follicularis +   
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma  
keratosis pilaris atrophicans +   
Koone Rizzo Elias Syndrome 
Lamellar Ichthyosis, Autosomal Dominant Form  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
lipoid proteinosis  
monilethrix +   
Muir-Torre syndrome  
Multiple Noduli Cutanei with Urinary Tract Abnormalities 
Neu-Laxova syndrome 1  
Nisch syndrome  
Oculotrichodysplasia 
orofaciodigital syndrome IX  
Osteosclerosis with Ichthyosis and Fractures 
palmoplantar keratosis +   
Parana Hard Skin Syndrome 
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 
peeling skin syndrome +   
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 
Perioral Pigmented Follicular Atrophoderma with Milia and Epidermoid Cysts 
plasminogen deficiency type I  
poikiloderma with neutropenia  
porokeratosis +   
primary cutaneous amyloidosis +   
progressive osseous heteroplasia  
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
prolidase deficiency  
pseudoxanthoma elasticum +   
Rothmund-Thomson syndrome +   
Rud Syndrome 
Ruzicka Goerz Anton syndrome 
Sammartino De Crecchio Syndrome 
Sjogren-Larsson syndrome +   
Skin Fragility-Woolly Hair Syndrome  
stiff skin syndrome  
Storm Syndrome 
Stormorken syndrome  
Trichodysplasia-Xeroderma 
trichothiodystrophy +   
Vohwinkel Syndrome, Variant Form  
X-linked ichthyosis +   
X-linked reticulate pigmentary disorder  
xeroderma of eyelid 
xeroderma pigmentosum +   

Synonyms
Exact Synonyms: BCIE ;   BIE ;   Bullous Erythroderma Ichthyosiforme ;   Bullous Erythroderma Ichthyosiformis Congenita of Brocq ;   Bullous Ichthyosiform Erythroderma ;   Bullous Ichthyosiform Erythrodermas ;   EHK ;   bullous congenital ichthyosiform erythroderma ;   epidermolytic hyperkeratoses ;   epidermolytic ichthyosis ;   epidermolytic palmoplantar hyperkeratosis
Primary IDs: MESH:D017488
Alternate IDs: OMIA:001415 ;   OMIM:113800 ;   RDO:0003251
Xrefs: GARD:1039 ;   ICD10CM:Q80.3 ;   NCI:C62569
Definition Sources: MESH:D017488

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