Disease #01139 (MEDNIK;EKV-3 (mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma (MEDNIK, erythrokeratodermia variabilis, type 3 (EKV-3))), OMIM:609313)
| Official abbreviation |
MEDNIK;EKV-3 |
| Name |
mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma (MEDNIK, erythrokeratodermia variabilis, type 3 (EKV-3)) |
| OMIM ID |
609313 |
| Human Phenotype Ontology Project (HPO) |
HPO |
| Inheritance |
- |
| Individuals reported having this disease |
- |
| Phenotype entries for this disease |
- |
| Associated with 1 gene |
AP1S1 |
| Associated tissues |
- |
| Disease features |
- |
| Remarks |
- |
| Date created |
2014-09-25 23:29:40 +02:00 (CEST) |
| Date last edited |
N/A |
|
