Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SETX gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: amyotrophic lateral sclerosis caused by mutation in SETX distal hereditary motor neuropathy with pyramidal features SETX amyotrophic lateral sclerosis ALS4 amyotrophic lateral sclerosis 4, juvenile distal hereditary motor neuropathy with upper motor neuron signs dHMN with upper motor neuron signs amyotrophic lateral sclerosis 4 ALS 4

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C566550 (MONDO:equivalentTo)
  • OMIM:602433 (Orphanet:357043/e)
  • DOID:0060196 (MONDO:equivalentTo)
  • GARD:10502 (MONDO:GARD)
  • UMLS:C1865409 (MONDO:equivalentTo)
  • MEDGEN:355983 (MONDO:equivalentTo)
  • Orphanet:357043 (OMIM:602433)
Subsets

gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare

exactMatch

http://identifiers.org/mesh/C566550

https://omim.org/entry/602433

http://linkedlifedata.com/resource/umls/id/C1865409

http://www.orpha.net/ORDO/Orphanet_357043

http://purl.obolibrary.org/obo/DOID_0060196

http://identifiers.org/medgen/355983

has related synonym

neuronopathy, distal hereditary motor, with pyramidal features

id

MONDO:0011223

seeAlso

https://rarediseases.info.nih.gov/diseases/10502/amyotrophic-lateral-sclerosis-type-4