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recessive X-linked ichthyosis

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.
Uniprot Description A keratinization disorder manifesting with mild erythroderma and generalized exfoliation of the skin within a few weeks after birth. Affected boys later develop large, polygonal, dark brown scales, especially on the neck, extremities, trunk, and buttocks.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0010622:  recessive X-linked ichthyosis
GARD:0007904: 
NCIT:C84779: 
Orphanet:461: 
SCTID:3944006: 
UMLS:C0079588: