Term Name: autosomal recessive congenital ichthyosis 11
Synonyms: autosomal recessive ichthyosis with hypotrichosis, hypotrichosis-congenital ichthyosis syndrome, ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis, ichthyosis-follicular atrophoderma-hypotrichosis syndrome, ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome, ichthyosis-hypotrichosis syndrome, IFAH syndrome, IHS
Definition: 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.
Ontology: Human Disease [DOID:0060720]   ( DOID:0060720 )

Relationships
is a type of: autosomal recessive congenital ichthyosis