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autosomal recessive congenital ichthyosis 13
Summary
- Definition
- An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous mutation in the SDR9C7 gene on chromosome 12q13.
- Super Class
- autosomal recessive congenital ichthyosis
External Links
- Disease Ontology
- DOID:0080257
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
