hereditary spastic paraplegia

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genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs

Välised allikad

Freebase	/m/01hzg9^[1]
MeSH descriptor ID	D015419^[2] teema nimetus kujul: Spastic Paraplegia, Hereditary
Quora topic ID	Hereditary-Spastic-Paraplegia
PatientsLikeMe condition ID	hereditary-spastic-paraplegia
DiseasesDB	33207
Orphanet ID	685^[3] mapping relation type: täpne vaste
Disease Ontology ID	DOID:2476^[4]
WikiProjectMed ID	Hereditary spastic paraplegia
MeSH tree code	C10.500.300.820 C10.574.500.495.820 C10.668.829.800.300.820 C16.131.666.300.820 C16.320.400.375.820
GND	4077650-5
JSTOR topic ID	hereditary-spastic-paraplegia
ICD-11 (foundation)	810807375
NHS Health A to Z ID	hereditary-spastic-paraplegia
UMLS CUI	C2931355^[3] mapping relation type: close match C0037773^[2]
UK Parliament thesaurus ID	510524 teema nimetus kujul: Hereditary spastic paraplegia
GARD rare disease ID	6637^[3]^[2]
KEGG ID	H00266
ICD-10-CM	G11.4^[2]^[3]
OMIM ID	312920
OpenAlex ID	C2780395223^[5]
Mondo ID	MONDO_0019064
eMedicine ID	306713
ICD-11 ID (MMS)	8B44.0 teema nimetus kujul: Hereditary spastic paraplegia

üksikjuht nähtusest

rare disease

class of disease

mille alamklass

paraplegia^[4]

nervous system heredodegenerative disease^[3]

haigus

nimetatud ... järgi

Adolf von Strümpell

meditsiiniline eriala

neuroloogia

sümptomid

paraplegia^[4]

spasticity^[4]

genetic association

L1CAM^[6]^[7]^[8]

Wikimedia projekti fookusnimekiri

Vikipeedia:Vikiprojekt Meditsiin

ICD-9-CM

334.1^[2]^[3]

NCI Thesaurus ID

C140267^[3]

mapping relation type: täpne vaste

täpne vaste

http://purl.obolibrary.org/obo/DOID_2476^[4]

http://identifiers.org/doid/DOID:2476^[9]

http://www.orpha.net/ORDO/Orphanet_685

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

[r972aa6d7-1] Freebase Data Dumps, 28. oktoober 2013

[rf82623bf-2] 2,0 ^2,1 ^2,2 ^2,3 ^2,4 Disease Ontology, 15. mai 2019, DOID:2476

[rf4416d86-3] 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

[r94cca3f2-4] 4,0 ^4,1 ^4,2 ^4,3 ^4,4 Disease Ontology, 30. november 2020, DOID:2476

[rfcd831de-5] OpenAlex, 26. jaanuar 2022, https://docs.openalex.org/download-snapshot/snapshot-data-format

[r7fd026fe-6] MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.

[re6961278-7] Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus

[r500b7bed-8] X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

[raccfa3a2-9] Identifiers.org, https://registry.identifiers.org/registry/doid

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