Human Disease Ontology

Last uploaded: June 28, 2024

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 ORDO:182050 MIM:155100
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
prefLabel	MYH-9 related disease
subClassOf	http://purl.obolibrary.org/obo/DOID_2218

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0060651	HHEAR	SAME_URI
http://purl.obolibrary.org/obo/DOID_0060651	NIFSTD	SAME_URI
http://purl.obolibrary.org/obo/DOID_0060651	MIDO	SAME_URI
http://purl.obolibrary.org/obo/DOID_0060651	FNS-H	SAME_URI
http://www.orpha.net/ORDO/Orphanet_182050	EFO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/712922002	SNOMEDCT	LOOM
http://www.orpha.net/ORDO/Orphanet_182050	ORDO	LOOM
http://purl.obolibrary.org/obo/DOID_0060651	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0060651	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0060651	MIDO	LOOM
http://purl.obolibrary.org/obo/DOID_0060651	FNS-H	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10079437	MEDDRA	LOOM
http://purl.obolibrary.org/obo/MONDO_0015912	KTAO	LOOM