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autosomal recessive congenital ichthyosis 14
Summary
- Definition
- 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.
- Super Class
- autosomal recessive congenital ichthyosis
External Links
- Disease Ontology
- DOID:0080258
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001944 | Dehydration |
| HP:0002205 | Recurrent respiratory infections |
| HP:0004322 | Short stature |
| HP:0008064 | Ichthyosis |
| HP:0008070 | Sparse hair |
| HP:0011039 | Abnormal helix morphology |
| HP:0100543 | Cognitive impairment |
| HP:0100679 | Lack of skin elasticity |
| HP:0100758 | Gangrene |
| HP:0100806 | Sepsis |
