Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Charcot-Marie-Tooth disease type X
Definitions	A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene. Xref MGI. OMIM mapping confirmed by DO. [SN].
ID	http://purl.obolibrary.org/obo/DOID_0050542
comment	Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference	ORDO:64747
definition	A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene.
has_obo_namespace	disease_ontology
id	DOID:0050542
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	Charcot-Marie-Tooth disease type X
notation	DOID:0050542
prefLabel	Charcot-Marie-Tooth disease type X
subClassOf	http://purl.obolibrary.org/obo/DOID_10595

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