FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term X-linked ichthyosis ID (Ontology) DOID:1700 (Human Disease)
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.
Also Known As "X-linked ichthyosis with steryl-sulphatase deficiency" ; "X-linked placental steryl-sulphatase deficiency" ; "X-linked recessive ichthyosis"
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 Genes
 X-linked ichthyosis       5
 for disease ribbon | X-linked ichthyosis       5
 model of | X-linked ichthyosis       5
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked recessive disease__
skin disease                    |
 |__ichthyosis__________________|
                                X-linked ichthyosis  5 rec.
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Is a X-linked recessive disease
ichthyosis
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Synonyms
  • "X-linked ichthyosis with steryl-sulphatase deficiency" EXACT
    "X-linked placental steryl-sulphatase deficiency" EXACT
    "X-linked recessive ichthyosis" EXACT
Secondary IDs
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GARD:7904
ICD10CM:Q80.1
MESH:D016114
MIM:308100
NCI:C84779
SNOMEDCT_US_2023_03_01:72523005
UMLS_CUI:C0079588