autosomal recessive congenital ichthyosis 11

Summary

DOID:0060720 - autosomal recessive congenital ichthyosis 11

Disease Ontology 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.

Synonyms: autosomal recessive ichthyosis with hypotrichosis, hypotrichosis-congenital ichthyosis syndrome, ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis, ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome, ichthyosis-follicular atrophoderma-hypotrichosis syndrome, ichthyosis-hypotrichosis syndrome, IFAH syndrome, IHS

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: st14

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011218 - autosomal recessive congenital ichthyosis 11

MONDO:0011218 - autosomal recessive congenital ichthyosis 11

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive congenital ichthyosis (is_a)