Search Ontology:
Human Disease

X-linked ichthyosis

Term ID
DOID:1700
Synonyms
  • X-linked ichthyosis with steryl-sulphatase deficiency
  • X-linked placental steryl-sulphatase deficiency
  • X-linked recessive ichthyosis
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. (2)
References
  • GARD:7904
  • ICD10CM:Q80.1
  • MESH:D016114
  • MIM:308100
  • NCI:C84779
  • SNOMEDCT_US_2023_03_01:72523005
  • UMLS_CUI:C0079588
Ontology
Human Disease   ( DOID:1700 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models