Autosomal Recessive Congenital Ichthyosis 6
Disease ID: disease_node_19977
Connections displayed (default: 10).
Loading graph...
| Dbxref | ICD10CM:Q80.2, MIM:612281 |
|---|---|
| Subclassof | DOID_0060655 |
| Data Source | DOID |
| Synonyms | ARCI6 |
| Doid Label | autosomal recessive congenital ichthyosis 6 |
| Doid Description | An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33. |
| Disease Node Id | disease_node_19977 |
| Doid Id | DOID_0060715 |
| Disease Has Basis In | HP_0001197 |
| Label | Autosomal Recessive Congenital Ichthyosis 6 |
- Outgoing r'ship
SUBCLASS_OFto/from Ichthyosis, Lamellar(ID:disease_node_9185) (Disease)