Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: 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 hereditary spastic paraplegia 11 SPG11 hereditary spastic paraplegia autosomal recessive spastic paraplegia complicated with thin corpus callosum autosomal recessive spastic paraplegia type 11 SPG11 autosomal recessive spastic paraplegia 11 hereditary spastic paraplegia type 11 Nakamura-Osame syndrome
Term information
- Orphanet:2822 (OMIM:604360)
- SCTID:715491000 (MONDO:equivalentTo)
- DOID:0110764 (MONDO:equivalentTo)
- NCIT:C148317 (MONDO:equivalentTo)
- GARD:4919 (Orphanet:2822)
- OMIM:604360 (Orphanet:2822/e)
gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen
http://www.orpha.net/ORDO/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
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
Nakamura Osame syndrome
hereditary spastic paraplegia mental impairment and thin corpus callosum