X-linked ichthyosis

Summary

DOID:1700 - X-linked ichthyosis

Disease Ontology Definition:An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22.

Synonyms: X-linked placental steryl-sulphatase deficiency, X-linked recessive ichthyosis, X-linked ichthyosis with steryl-sulphatase deficiency

Echinobase 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

: LOC591748

MIM:

MIM:308100 - ichthyosis, x-linked; xli

MIM:308100 - ichthyosis, x-linked; xli

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

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

Parent(s): ichthyosis (is_a), X-linked monogenic disease (is_a), X-linked recessive disease (is_a)