Autosomal Recessive Congenital Ichthyosis 2
Disease ID: disease_node_19982
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| Dbxref | ICD10CM:Q80.2, MIM:242100 |
|---|---|
| Subclassof | DOID_0060655 |
| Data Source | DOID |
| Synonyms | ARCI2, BROCQ congenital ichthyosiform erythroderma nonbullous form, NCIE1, nonbullous congenital ichthyosiform erythroderma 1 |
| Doid Label | autosomal recessive congenital ichthyosis 2 |
| Doid Description | An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13. |
| Disease Node Id | disease_node_19982 |
| Doid Id | DOID_0060710 |
| Disease Has Basis In | HP_0001197 |
| Label | Autosomal Recessive Congenital Ichthyosis 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Ichthyosis, Lamellar(ID:disease_node_9185) (Disease)