loading...| 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 |
|
| database_cross_reference |
UMLS:C5848385 Orphanet:35125 SCTID:239112008 MEDGEN:1847175 MedDRA:10014985 GARD:18813 |
|
| 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_exact_synonym |
Epidermal hamartoma syndrome |
|
| IAO_0000233 | ||
| id |
MONDO:0018115 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
epidermal nevus syndrome |
|
| notation |
MONDO:0018115 |
|
| preferred label |
epidermal nevus syndrome |
|
| prefLabel |
epidermal nevus syndrome |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/snomedct/239112008 http://linkedlifedata.com/resource/umls/id/C5848385 |
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| subClassOf | ||
| excluded_subClassOf |