amyotrophic lateral sclerosis type 4
Go to external page http://purl.obolibrary.org/obo/MONDO_0011223
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
Term information
- 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)
gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare
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