Term Name: | autosomal recessive congenital ichthyosis 11 |
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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 ) |