Mednik Syndrome
Disease ID: disease_node_20351
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| Dbxref | MIM:609313, ORDO:171851 |
|---|---|
| Subclassof | DOID_225 |
| Data Source | DOID |
| Synonyms | erythrokeratodermia variabilis 3, erythrokeratodermia variabilis, Kamouraska type, mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia |
| Doid Label | MEDNIK syndrome |
| Doid Description | A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22. |
| Disease Node Id | disease_node_20351 |
| Doid Id | DOID_0060483 |
| Label | Mednik Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)