Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Autosomal dominant intermediate Charcot-Marie-Tooth disease

Synonyms

CMTDI

ID

http://www.orpha.net/ORDO/Orphanet_90114

alternative_term

CMTDI

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90114

has_age_of_onset

Adolescent

Adult

Childhood

has_inheritance

Autosomal dominant

hasDbXref

ICD-11:8C20.2

UMLS:C5680178

label

Autosomal dominant intermediate Charcot-Marie-Tooth disease

notation

ORPHA:90114

Clinical group

prefixIRI

ORDO:Orphanet_90114

prefLabel

Autosomal dominant intermediate Charcot-Marie-Tooth disease

present_in

Worldwide AND has_point_prevalence_range : Unknown

subClassOf

http://www.orpha.net/ORDO/Orphanet_476123

http://www.orpha.net/ORDO/Orphanet_557492

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