Term Name: | autosomal recessive congenital ichthyosis 13 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0080257] ( DOID:0080257 ) |