Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 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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http://purl.obolibrary.org/obo/MONDO_0018994 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0018994 Experimental Factor Ontology / 实验性因素本体 LOOM