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DOID:0060651 - MYH-9 related disease
Disease Ontology Definition:A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract.
Synonyms:
Echinobase Genes :
MIM:153640 - fechtner syndrome; ftns |
MIM:153650 - epstein syndrome |
MIM:155100 - may-hegglin anomaly; mha |
MIM:605249 - sebastian syndrome; sbs |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
blood platelet disease (is_a)