MYH-9 related disease

Summary

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:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: myh9

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0015912 - macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

MONDO:0015912 - macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

MIM:

MIM:153640 - MOVED TO 155100
MIM:153650 - MOVED TO 155100
MIM:155100 - MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS; MATINS
MIM:605249 - MOVED TO 155100

MIM:153640 - MOVED TO 155100

MIM:153650 - MOVED TO 155100

MIM:155100 - MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS; MATINS

MIM:605249 - MOVED TO 155100

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): blood platelet disease (is_a)