About: Brooke-Spiegler syndrome

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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. [SN].

Attributes	Values
type	Class
subClassOf	autosomal dominant disease skin disease nodeID://b50937411
label	Brooke-Spiegler syndrome
comment	OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0050693
created_by	snadendla
creation_date	2011-06-17T04:34:10Z
database_cross_reference	GARD:10179 OMIM:605041 ORDO:79493 SNOMEDCT_US_2021_09_01:703531009 UMLS_CUI:C1857941
has_exact_synonym	BRSS (en) BSS (en) CYLD cutaneous syndrome (en) SBS (en) Spiegler-Brooke Syndrome (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A skin disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50937412

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