Disease association ontology term - MONDO:0012251 - MEDNIK syndrome
Term summary
- ID
- MONDO:0012251
- Name
- MEDNIK syndrome
- Ontology or CV name
- Disease association
- Definition
- MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).
