About: Stormorken syndrome

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

Attributes	Values
type	Class
subClassOf	autosomal dominant disease blood platelet disease nodeID://b50938703
label	Stormorken syndrome
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060354
created_by	elvira
creation_date	2015-07-16T16:30:32Z
database_cross_reference	MESH:C566108 OMIM:185070 ORDO:3204 SNOMEDCT_US_2021_09_01:711407000 UMLS_CUI:C1861451
has_exact_synonym	thrombocytopathy, asplenia and miosis (en)
has_obo_namespace	disease_ontology
in_subset	DO_rare_slim
http://purl.obolib...g/obo/IAO_0000115	A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50938704

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