About: X-linked ichthyosis

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

OMIM mapping confirmed by DO. [LS].

Attributes	Values
type	Class
subClassOf	X-linked recessive disease ichthyosis nodeID://b50950072 nodeID://b50950076
label	X-linked ichthyosis
comment	OMIM mapping confirmed by DO. [LS].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:1700
database_cross_reference	GARD:7904 ICD10CM:Q80.1 MESH:D016114 NCI:C84779 OMIM:308100 SNOMEDCT_US_2021_09_01:72523005 UMLS_CUI:C0079588
has_exact_synonym	X-linked placental steryl-sulphatase deficiency (en) X-linked recessive ichthyosis (en) X-linked ichthyosis with steryl-sulphatase deficiency (en)
has_obo_namespace	disease_ontology
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50950077

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