Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Charcot-Marie-Tooth disease X-linked dominant 1
Synonyms	X-linked Charcot-Marie-Tooth disease type 1
Definitions	A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13.
ID	http://purl.obolibrary.org/obo/DOID_0110209
database_cross_reference	OMIM:302800 ICD10CM:G60.0 ORDO:101075
definition	A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13.
has exact synonym	X-linked Charcot-Marie-Tooth disease type 1 CMTX1 CMT1X Charcot-Marie-Tooth neuropathy X-linked dominant 1
has material basis in	http://purl.obolibrary.org/obo/GENO_0000146
has_obo_namespace	disease_ontology
id	DOID:0110209
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	Charcot-Marie-Tooth disease X-linked dominant 1
notation	DOID:0110209
prefLabel	Charcot-Marie-Tooth disease X-linked dominant 1
subClassOf	http://purl.obolibrary.org/obo/DOID_0050542 http://purl.obolibrary.org/obo/DOID_0080009

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/302800	Online Mendelian Inheritance in Man	LOOM