Preferred Name

epidermal nevus syndrome
Synonyms

Epidermal hamartoma syndrome

Definitions

A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities.

ID

http://purl.obolibrary.org/obo/MONDO_0018115

altLabel

Epidermal hamartoma syndrome

definition

A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities.

has characteristic

http://purl.obolibrary.org/obo/MONDO_0021136

has_exact_synonym

Epidermal hamartoma syndrome

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4222

label

epidermal nevus syndrome

prefixIRI

MONDO:0018115

prefLabel

epidermal nevus syndrome

textual definition

A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities.

subClassOf

http://purl.obolibrary.org/obo/MONDO_0002254

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