Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Charcot-Marie-Tooth disease dominant intermediate D
Synonyms	DI-CMTD
Definitions	A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.
ID	http://purl.obolibrary.org/obo/DOID_0110200
database_cross_reference	MESH:C564333 OMIM:607791 ICD10CM:G60.0 ORDO:100046
definition	A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.
has exact synonym	DI-CMTD CMTDID Charcot-Marie-Tooth neuropathy dominant intermediate D autosomal dominant intermediate Charcot-Marie-Tooth disease type D
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0110200
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	Charcot-Marie-Tooth disease dominant intermediate D
notation	DOID:0110200
prefLabel	Charcot-Marie-Tooth disease dominant intermediate D
subClassOf	http://purl.obolibrary.org/obo/DOID_0050543 http://purl.obolibrary.org/obo/DOID_0050736

Delete	Subject	Author	Type	Created
No notes to display

Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/607791	Online Mendelian Inheritance in Man	LOOM
	http://purl.bioontology.org/ontology/MESH/C564333	Medical Subject Headings	LOOM