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Metadata
ID DOID:1700
Name X-linked 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.
https://rarediseases.info.nih.gov/diseases/7904/disease, https://www.omim.org/entry/308100
Xrefs

GARD:7904

ICD10CM:Q80.1

MESH:D016114

MIM:308100

NCI:C84779

SNOMEDCT_US_2023_03_01:72523005

UMLS_CUI:C0079588

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

X-linked ichthyosis with steryl-sulphatase deficiency [EXACT]

X-linked placental steryl-sulphatase deficiency [EXACT]

X-linked recessive ichthyosis [EXACT]

Parent Relationships

is_a ichthyosis

is_a X-linked recessive disease

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