Autosomal Recessive Congenital Ichthyosis 9
Disease ID: disease_node_19974
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| Dbxref | ICD10CM:Q80.2, MIM:615023 |
|---|---|
| Subclassof | DOID_0060655 |
| Data Source | DOID |
| Synonyms | ARCI9 |
| Doid Label | autosomal recessive congenital ichthyosis 9 |
| Doid Description | An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26. |
| Disease Node Id | disease_node_19974 |
| Doid Id | DOID_0060718 |
| Disease Has Basis In | HP_0001197 |
| Label | Autosomal Recessive Congenital Ichthyosis 9 |
- Outgoing r'ship
SUBCLASS_OFto/from Ichthyosis, Lamellar(ID:disease_node_9185) (Disease)