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autosomal recessive congenital ichthyosis 8
Summary
- Synonym
-
- ARCI8
- lamellar ichthyosis 4
- late-onset lamellar ichthyosis
- Definition
- An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23.
- Super Class
- autosomal recessive congenital ichthyosis
External Links
- Disease Ontology
- DOID:0060717
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q5VXI9 | Lipase member N |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000083 | Renal insufficiency |
| HP:0008070 | Sparse hair |
| HP:0000962 | Hyperkeratosis |
| HP:0100758 | Gangrene |
| HP:0000232 | Everted lower lip vermilion |
| HP:0001944 | Dehydration |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow |
| HP:0001019 | Erythroderma |
| HP:0100543 | Cognitive impairment |
| HP:0000656 | Ectropion |
