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autosomal recessive spastic paraplegia type 76

Go to external page http://purl.obolibrary.org/obo/MONDO_0014827

Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration. [ Orphanet : 488594 ]

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:616907 (Orphanet:488594)
  • DOID:0110821 (MONDO:equivalentTo)
  • UMLS:C4310800 (MONDO:ncbi_mim2gene_medline)
  • Orphanet:488594 (MONDO:equivalentTo)
  • EFO:0009019 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
SPG76 [ DOID : 0110821 https://omim.org/entry/616907 Orphanet : 488594 ]
conformsTo
  • http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml
definition
  • Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.
exactMatch
  • http://purl.obolibrary.org/obo/DOID_0110821
  • http://linkedlifedata.com/resource/umls/id/C4310800
  • http://www.orpha.net/ORDO/Orphanet_488594
  • https://omim.org/entry/616907
has exact synonym
  • SPG76
  • autosomal recessive spastic paraplegia 76
  • spastic paraplegia 76, autosomal recessive
  • CAPN1 autosomal recessive complex spastic paraplegia
  • hereditary spastic paraplegia type 76
  • autosomal recessive complex spastic paraplegia caused by mutation in CAPN1
has related synonym
  • hereditary spastic paraplegia 76
id
  • MONDO:0014827