About: gray platelet 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 recessive disease blood platelet disease nodeID://b50944111 nodeID://b50944112
label	gray platelet syndrome
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111044
database_cross_reference	GARD:2562 ICD10CM:D69.1 MESH:D055652 NCI:C84741 OMIM:139090 ORDO:721 SNOMEDCT_US_2021_09_01:51720005 UMLS_CUI:C0272302
has_exact_synonym	BDPLT4 (en) GPS (en) platelet alpha-granule deficiency (en) platelet-type bleeding disorder 4 (en)
has_obo_namespace	disease_ontology
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21.
is first of	nodeID://b50956984
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50944113

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