Autosomal Recessive Congenital Ichthyosis 14
Disease ID: disease_node_19969
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| Dbxref | MIM:617571 |
|---|---|
| Subclassof | DOID_0060655 |
| Data Source | DOID |
| Doid Label | autosomal recessive congenital ichthyosis 14 |
| Doid Description | An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the SULT2B1 gene on chromosome 19q13. |
| Disease Node Id | disease_node_19969 |
| Doid Id | DOID_0080258 |
| Disease Has Basis In | HP_0001197 |
| Label | Autosomal Recessive Congenital Ichthyosis 14 |
- Outgoing r'ship
SUBCLASS_OFto/from Ichthyosis, Lamellar(ID:disease_node_9185) (Disease)