Autosomal Recessive Congenital Ichthyosis 8
Disease ID: disease_node_19975
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| Dbxref | ICD10CM:Q80.2, MIM:613943 |
|---|---|
| Subclassof | DOID_0060655 |
| Data Source | DOID |
| Synonyms | ARCI8, lamellar ichthyosis 4, late-onset lamellar ichthyosis |
| Doid Label | autosomal recessive congenital ichthyosis 8 |
| Doid Description | An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23. |
| Disease Node Id | disease_node_19975 |
| Doid Id | DOID_0060717 |
| Disease Has Basis In | HP_0001197 |
| Label | Autosomal Recessive Congenital Ichthyosis 8 |
- Outgoing r'ship
SUBCLASS_OFto/from Ichthyosis, Lamellar(ID:disease_node_9185) (Disease)