Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Charcot-Marie-Tooth disease type 2I
Synonyms	Charcot-Marie-Tooth neuropathy type 2I
Definitions	A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.
ID	http://purl.obolibrary.org/obo/DOID_0110158
database_cross_reference	ICD10CM:G60.0 OMIM:607677 ORDO:99942 MESH:C535416
definition	A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.
has exact synonym	Charcot-Marie-Tooth neuropathy type 2I CMT2I
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0110158
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	Charcot-Marie-Tooth disease type 2I
notation	DOID:0110158
prefLabel	Charcot-Marie-Tooth disease type 2I
subClassOf	http://purl.obolibrary.org/obo/DOID_0050736 http://purl.obolibrary.org/obo/DOID_0050539

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C535416	Medical Subject Headings	LOOM