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autosomal dominant slowed nerve conduction velocity

Go to external page http://purl.obolibrary.org/obo/MONDO_0011998

Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene. [ Orphanet:140481 ]

Synonyms: slowed nerve conduction velocity, AD autosomal dominant slowed nerve conduction velocity

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:16962 (Orphanet:140481)
  • Orphanet:140481 (OMIM:608236)
  • UMLS:C1842357 (Orphanet:140481)
  • MESH:C564269 (MONDO:equivalentTo)
  • OMIM:608236 (Orphanet:140481/e)
  • SCTID:764854006 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6877

https://github.com/monarch-initiative/mondo/issues/6752

https://github.com/monarch-initiative/mondo/issues/4521

exactMatch

http://linkedlifedata.com/resource/umls/id/C1842357

http://identifiers.org/mesh/C564269

http://identifiers.org/snomedct/764854006

https://omim.org/entry/608236

http://www.orpha.net/ORDO/Orphanet_140481

has related synonym

slowed nerve conduction velocity, autosomal dominant

SNCV

id

MONDO:0011998

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0011998

Term relations