Autosomal Recessive Congenital Ichthyosis 3
Disease ID: disease_node_19981
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| Dbxref | ICD10CM:Q80.2, MIM:606545 |
|---|---|
| Subclassof | DOID_0060655 |
| Data Source | DOID |
| Synonyms | ARCI3, lamellar ichthyosis 5 |
| Doid Label | autosomal recessive congenital ichthyosis 3 |
| Doid Description | An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13. |
| Disease Node Id | disease_node_19981 |
| Doid Id | DOID_0060711 |
| Disease Has Basis In | HP_0001197 |
| Label | Autosomal Recessive Congenital Ichthyosis 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Ichthyosis, Lamellar(ID:disease_node_9185) (Disease)