Term Name: | autosomal recessive congenital ichthyosis 1 |
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Synonyms: | ARCI1, bathing suit ichthyosis |
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 TGM1 gene on chromosome 14q11.2. |
Ontology: | Human Disease [DOID:0060656] ( DOID:0060656 ) |