Term Name: autosomal recessive congenital ichthyosis 14
Synonyms:
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.
Ontology: Human Disease [DOID:0080258]   ( DOID:0080258 )

Relationships
is a type of: autosomal recessive congenital ichthyosis