Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

Charcot-Marie-Tooth disease dominant intermediate D

Synonyms

DI-CMTD

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

MESH:C564333

OMIM:607791

ICD10CM:G60.0

ORDO:100046

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

DI-CMTD

CMTDID

Charcot-Marie-Tooth neuropathy dominant intermediate D

autosomal dominant intermediate Charcot-Marie-Tooth disease type D

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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http://purl.bioontology.org/ontology/OMIM/607791 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/MONDO_0011909 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0011909 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/MESH/C564333 Medical Subject Headings / 医学主题词表 LOOM