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autosomal recessive congenital ichthyosis 6
Summary
- Synonym
-
- ARCI6
- Definition
- An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33.
- Super Class
- autosomal recessive congenital ichthyosis
External Links
- Disease Ontology
- DOID:0060715
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002205 | Recurrent respiratory infections |
| HP:0000083 | Renal insufficiency |
| HP:0001944 | Dehydration |
| HP:0000962 | Hyperkeratosis |
| HP:0011039 | Abnormal helix morphology |
| HP:0100806 | Sepsis |
| HP:0000232 | Everted lower lip vermilion |
| HP:0100679 | Lack of skin elasticity |
