Preferred Name |
Erythrokeratodermia Variabilis |
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84696 |
code |
C84696 |
DEFINITION |
A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema. Mutations in GJB3 and GJB4 genes have been identified as causative agents. |
label |
Erythrokeratodermia Variabilis |
Preferred_Name |
Erythrokeratodermia Variabilis |
prefixIRI |
C84696 |
prefLabel |
Erythrokeratodermia Variabilis |
Semantic_Type |
Disease or Syndrome |
UMLS_CUI |
C0265961 |
subClassOf |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.bioontology.org/ontology/MESH/D056266 | Medical Subject Headings | LOOM | |
http://purl.obolibrary.org/obo/DOID_0050467 | Human Disease Ontology 123 | LOOM |