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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:0100840 | Aplasia/Hypoplasia of the eyebrow |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003577 | Congenital onset |
| HP:0007479 | Congenital nonbullous ichthyosiform erythroderma |
| HP:0010783 | Erythema |
