Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Charcot-Marie-Tooth disease type 1
Synonyms	hereditary motor and sensory neuropathy type 1
Definitions	A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons. OMIM mapping confirmed by DO. [SN].
ID	http://purl.obolibrary.org/obo/DOID_0050538
comment	OMIM mapping confirmed by DO. [SN].
database_cross_reference	GARD:12433
definition	A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons.
has exact synonym	hereditary motor and sensory neuropathy type 1
has_obo_namespace	disease_ontology
id	DOID:0050538
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	Charcot-Marie-Tooth disease type 1
notation	DOID:0050538
prefLabel	Charcot-Marie-Tooth disease type 1
subClassOf	http://purl.obolibrary.org/obo/DOID_10595

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