Human Disease Ontology

Last uploaded: May 1, 2024
Preferred Name

Charcot-Marie-Tooth disease dominant intermediate D

Synonyms

autosomal dominant intermediate Charcot-Marie-Tooth disease type D

Definitions

A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.

ID

http://purl.obolibrary.org/obo/DOID_0110200

database_cross_reference

ICD10CM:G60.0

ORDO:100046

MESH:C564333

OMIM:607791

definition

A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.

has exact synonym

autosomal dominant intermediate Charcot-Marie-Tooth disease type D

CMTDID

Charcot-Marie-Tooth neuropathy dominant intermediate D

DI-CMTD

has material basis in

http://purl.obolibrary.org/obo/GENO_0000147

has_obo_namespace

disease_ontology

id

DOID:0110200

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

Charcot-Marie-Tooth disease dominant intermediate D

notation

DOID:0110200

prefLabel

Charcot-Marie-Tooth disease dominant intermediate D

subClassOf

http://purl.obolibrary.org/obo/DOID_0050543

http://purl.obolibrary.org/obo/DOID_0050736

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