Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

Charcot-Marie-Tooth disease

Synonyms

CMT - Charcot-Marie-Tooth disease

Definitions

A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.

ID

http://purl.obolibrary.org/obo/DOID_10595

database_cross_reference

UMLS_CUI:C0007959

MESH:D002607

OMIM:PS118220

SNOMEDCT_US_2022_09_01:193158000

ICD9CM:356.1

ICD10CM:G60.0

GARD:6034

NCI:C75467

definition

A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.

has exact synonym

CMT - Charcot-Marie-Tooth disease

has_obo_namespace

disease_ontology

id

DOID:10595

in_subset

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

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

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

label

Charcot-Marie-Tooth disease

notation

DOID:10595

prefLabel

Charcot-Marie-Tooth disease

subClassOf

http://purl.obolibrary.org/obo/DOID_440

Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75467 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0007959 MedlinePlus Health Topics LOOM
http://purl.bioontology.org/ontology/MESH/D002607 Medical Subject Headings LOOM