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Disease Ontology Browser
X-linked ichthyosis (DOID:1700)
Alliance: disease page
Synonyms: X-linked ichthyosis with steryl-sulphatase deficiency; X-linked placental steryl-sulphatase deficiency; X-linked recessive ichthyosis
Alt IDs: OMIM:308100, ICD10CM:Q80.1, MESH:D016114, NCI:C84779, UMLS_CUI:C0079588
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory