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DOID:0050467 - erythrokeratodermia variabilis
Disease Ontology Definition:A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis.
Synonyms: Erythrokeratodermia Figurata Variabilis, Greither Disease
Xenbase Genes
:
gjb3,
gja1,
trpm4,
kdsr,
gjb4
| MONDO:0017851 - erythrokeratodermia variabilis |
| MIM:133200 - ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1; EKVP1 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
monogenic disease (is_a),
skin disease (is_a)