Term Name: autosomal recessive congenital ichthyosis 1
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 )

Relationships
is a type of: autosomal recessive congenital ichthyosis