hereditary spastic paraplegia
Ilme
genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs
üksikjuht nähtusest
rare disease
class of disease
nimetatud ... järgi
meditsiiniline eriala
Wikimedia projekti fookusnimekiri
NCI Thesaurus ID
täpne vaste
Commonsi kategooria
Hereditary spastic paraplegia
Viited
- ↑ Freebase Data Dumps, 28. oktoober 2013
- ↑ 2,0 2,1 2,2 2,3 2,4 Disease Ontology, 15. mai 2019, DOID:2476
- ↑ 3,0 3,1 3,2 3,3 3,4 3,5 3,6 Monarch Disease Ontology release 2018-06-29, 3. juuli 2018, MONDO_0019064
- ↑ 4,0 4,1 4,2 4,3 4,4 Disease Ontology, 30. november 2020, DOID:2476
- ↑ OpenAlex, 26. jaanuar 2022, https://docs.openalex.org/download-snapshot/snapshot-data-format
- ↑ MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.
- ↑ Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus
- ↑ X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene
- ↑ Identifiers.org, https://registry.identifiers.org/registry/doid