Autosomal Recessive Congenital Ichthyosis 10
Disease ID: disease_node_19973
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| Dbxref | ICD10CM:Q80.2, MIM:615024 |
|---|---|
| Subclassof | DOID_0060655 |
| Data Source | DOID |
| Synonyms | ARCI10 |
| Doid Label | autosomal recessive congenital ichthyosis 10 |
| Doid Description | An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21. |
| Disease Node Id | disease_node_19973 |
| Doid Id | DOID_0060719 |
| Disease Has Basis In | HP_0001197 |
| Label | Autosomal Recessive Congenital Ichthyosis 10 |
- Outgoing r'ship
SUBCLASS_OFto/from Ichthyosis, Lamellar(ID:disease_node_9185) (Disease)