ZFIN Human Disease: platelet-type bleeding disorder 16

OBO ID: DOID:0060691

Term Name:	platelet-type bleeding disorder 16		Search Ontology:
Synonyms:	autosomal dominant Glanzmann thrombasthenia autosomal dominant thrombasthenia of Glanzmann and Naegeli
Definition:	A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32. (3)
References:	ICD10CM:D69.4 OMIM:187800 ORDO:140957
Ontology:	Human Disease ( DOID:0060691 )

Relationships

is a type of:	autosomal dominant disease blood platelet disease autosomal dominant disease blood platelet disease Show first 5 Terms
disjoint_from:	platelet-type bleeding disorder 8 platelet-type bleeding disorder 8 Show first 5 Terms

OTHER platelet-type bleeding disorder 16 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ITGA2B	itga2b	Bleeding disorder, platelet-type, 16, autosomal dominant	187800

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None