JSON

hereditary spastic paraplegia 11

^ http://purl.obolibrary.org/obo/MONDO_0011445

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • NCIT:C148317 (MONDO:equivalentTo)
  • Orphanet:2822 (OMIM:604360)
  • OMIM:604360 (Orphanet:2822/e)
  • GARD:0004919 (MONDO:equivalentTo)
  • DOID:0110764 (MONDO:equivalentTo)
  • SCTID:715491000 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
SPG11 [ Orphanet:2822 DOID:0110764 MONDO:Lexical OMIM:604360 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

definition

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_2822, https://omim.org/entry/604360, http://purl.obolibrary.org/obo/NCIT_C148317, http://purl.obolibrary.org/obo/DOID_0110764, http://identifiers.org/snomedct/715491000

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has exact synonym

spastic paraplegia-intellectual disability-thin corpus callosum syndrome, HSP-TCC, autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum, hereditary spastic paraplegia caused by mutation in SPG11, SPG11 hereditary spastic paraplegia, autosomal recessive spastic paraplegia complicated with thin corpus callosum, autosomal recessive spastic paraplegia type 11, hereditary spastic paraplegia type 11, autosomal recessive spastic paraplegia 11, SPG11, Nakamura-Osame syndrome

has related synonym

spastic paraplegia - intellectual deficit - thin corpus callosum, spastic paraplegia 11, autosomal recessive, spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum, spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum, spastic paraplegia 11, hereditary spastic paraplegia mental impairment and thin corpus callosum, Nakamura Osame syndrome

id

MONDO:0011445