Preferred Name

MYH-9 related disease
Synonyms
Definitions

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.

ID

http://purl.obolibrary.org/obo/DOID_0060651

database_cross_reference

ICD10CM:D69.4

OMIM:155100

ORDO:182050

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.

has_obo_namespace

disease_ontology

id

DOID:0060651

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

MYH-9 related disease

notation

DOID:0060651

note

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.

preferred label

MYH-9 related disease

prefLabel

MYH-9 related disease

subClassOf

http://purl.obolibrary.org/obo/DOID_2218

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