Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Naxos disease
Definitions	A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21.
ID	http://purl.obolibrary.org/obo/DOID_0080551
database_cross_reference	MESH:C538346 ORDO:34217 GARD:9795 OMIM:601214
definition	A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21.
has_obo_namespace	disease_ontology
id	DOID:0080551
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	Naxos disease
notation	DOID:0080551
prefLabel	Naxos disease
subClassOf	http://purl.obolibrary.org/obo/DOID_0050428

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C538346	Medical Subject Headings	LOOM
	http://purl.bioontology.org/ontology/OMIM/601214	Online Mendelian Inheritance in Man	LOOM