JSON

autosomal recessive intermediate Charcot-Marie-Tooth disease

^ http://purl.obolibrary.org/obo/MONDO_0017058


Autosomal recessive form of intermediate Charcot-Marie-Tooth disease. [ MONDO:patterns/autosomal_recessive ]

Term info

database cross reference
  • GARD:0012452 (MONDO:equivalentTo)
  • UMLS:CN202416 (MONDO:equivalentTo)
  • Orphanet:268337 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, ordo_group_of_disorders

definition

Autosomal recessive form of intermediate Charcot-Marie-Tooth disease.

exactMatch

http://linkedlifedata.com/resource/umls/id/CN202416, http://purl.obolibrary.org/obo/Orphanet_268337

has exact synonym

autosomal recessive intermediate Charcot-Marie-Tooth disease, RI-CMT, intermediate Charcot-Marie-Tooth disease, autosomal recessive

id

MONDO:0017058

seeAlso

https://rarediseases.info.nih.gov/diseases/12452/autosomal-recessive-intermediate-charcot-marie-tooth-disease