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hereditary spastic paraplegia 8

Go to external page http://purl.obolibrary.org/obo/MONDO_0011339

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the WASHC5 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: hereditary spastic paraplegia type 8 SPG8 hereditary spastic paraplegia caused by mutation in WASHC5 hereditary spastic paraplegia 8 autosomal dominant spastic paraplegia 8 autosomal dominant spastic paraplegia type 8 WASHC5 hereditary spastic paraplegia

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:603563 (Orphanet:100989/e)
  • GARD:9591 (Orphanet:100989)
  • DOID:0110823 (MONDO:equivalentTo)
  • Orphanet:100989 (OMIM:603563)
  • UMLS:C1863704 (Orphanet:100989/e)
  • MESH:C580458 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

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

exactMatch

http://linkedlifedata.com/resource/umls/id/C1863704

http://purl.obolibrary.org/obo/DOID_0110823

http://identifiers.org/mesh/C580458

http://www.orpha.net/ORDO/Orphanet_100989

https://omim.org/entry/603563

has related synonym

spastic paraplegia 8

spastic paraplegia 8, autosomal dominant

id

MONDO:0011339

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0011339

Term relations