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epidermal nevus syndrome

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

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. [ MESH:D054000 ]

Term info

database cross reference
  • MedDRA:10014985 (Orphanet:35125/e)
  • SCTID:239112008 (MONDO:equivalentTo)
  • Orphanet:35125 (MONDO:equivalentTo)
Subsets

ordo_disease

IAO 0000233

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

closeMatch

http://identifiers.org/meddra/10014985

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.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_35125, http://identifiers.org/snomedct/239112008

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005073

has exact synonym

Epidermal hamartoma syndrome

id

MONDO:0018115

Term relations