Autosomal Recessive Congenital Ichthyosis 4A
Disease ID: disease_node_19980
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| Dbxref | ICD10CM:Q80.2, MIM:601277 |
|---|---|
| Subclassof | DOID_0060655 |
| Data Source | DOID |
| Synonyms | ARCI4A, ICR2B, ichthyosis congenita IIB, lamellar ichthyosis 2 |
| Doid Label | autosomal recessive congenital ichthyosis 4A |
| Doid Description | An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. |
| Disease Node Id | disease_node_19980 |
| Doid Id | DOID_0060712 |
| Disease Has Basis In | HP_0001197 |
| Label | Autosomal Recessive Congenital Ichthyosis 4A |
- Outgoing r'ship
SUBCLASS_OFto/from Ichthyosis, Lamellar(ID:disease_node_9185) (Disease)