Human genes for autosomal recessive congenital ichthyosis 11
Autosomal recessive congenital ichthyosis 11 [DOID:0060720]
An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24.
Synonyms: autosomal recessive congenital ichthyosis 11, DOID:0060720, autosomal recessive ichthyosis with hypotrichosis, hypotrichosis-congenital ichthyosis syndrome, ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis ...