Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Charcot-Marie-Tooth disease type 1D
Synonyms	HMSN ID
Definitions	A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2).
ID	http://purl.obolibrary.org/obo/DOID_0110150
database_cross_reference	OMIM:607678 ICD10CM:G60.0 ORDO:101084 MESH:C537985
definition	A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2).
has exact synonym	HMSN ID HMSN1D hereditary motor and sensory neuropathy 1D CMT1D Charcot-Marie-Tooth neuropathy type 1D
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0110150
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	Charcot-Marie-Tooth disease type 1D
notation	DOID:0110150
prefLabel	Charcot-Marie-Tooth disease type 1D
subClassOf	http://purl.obolibrary.org/obo/DOID_0050736 http://purl.obolibrary.org/obo/DOID_0050538

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C537985	Medical Subject Headings	LOOM