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DO Term : X-linked ichthyosis [DOID:1700] Disease Ontology

Namespace  disease_ontology Obsolete  false
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.
  • synonyms:
  • ICD10CM:Q80.1,
  • NCI:C84779,
  • X-linked recessive ichthyosis,
  • MESH:D016114,
  • UMLS_CUI:C0079588,
  • X-linked ichthyosis with steryl-sulphatase deficiency,
  • X-linked placental steryl-sulphatase deficiency,
  • OMIM:308100,
  • 308100,
  • SNOMEDCT_US_2023_03_01:72523005,
  • GARD:7904
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents