Autosomal Recessive Congenital Ichthyosis 5
Disease ID: disease_node_19978
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| Dbxref | ICD10CM:Q80.2, MIM:604777 |
|---|---|
| Subclassof | DOID_0060655 |
| Data Source | DOID |
| Synonyms | ARCI5, autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis |
| Doid Label | autosomal recessive congenital ichthyosis 5 |
| Doid Description | An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13. |
| Disease Node Id | disease_node_19978 |
| Doid Id | DOID_0060714 |
| Disease Has Basis In | HP_0001197 |
| Label | Autosomal Recessive Congenital Ichthyosis 5 |
- Outgoing r'ship
SUBCLASS_OFto/from Ichthyosis, Lamellar(ID:disease_node_9185) (Disease)