Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Charcot-Marie-Tooth disease type 2
Synonyms	hereditary motor and sensory neuropathy type 2
Definitions	See OMIM:604484 Okinawa type is CMT type 2. A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.
ID	http://purl.obolibrary.org/obo/DOID_0050539
comment	See OMIM:604484 Okinawa type is CMT type 2.
database_cross_reference	OMIM:604484 ORDO:64746 SNOMEDCT_US_2022_09_01:193158000 UMLS_CUI:C0392553 GARD:12431 ICD9CM:356.0 OMIM:118230
definition	A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.
has exact synonym	hereditary motor and sensory neuropathy type 2 hereditary motor and sensory neuropathy Okinawa type hereditary motor and sensory neuropathy Guadalajara neuronal type
has_obo_namespace	disease_ontology
id	DOID:0050539
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	Charcot-Marie-Tooth disease type 2
notation	DOID:0050539
prefLabel	Charcot-Marie-Tooth disease type 2
subClassOf	http://purl.obolibrary.org/obo/DOID_10595

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