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neuronal ceroid lipofuscinosis

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Human disease

Välised allikad

WikiProjectMed ID
Neuronal ceroid lipofuscinosis
LCCN
sh85091152[1]
MedlinePlus ID
001613
MeSH descriptor ID
D009472[2]

teema nimetus kujul: Neuronal Ceroid-Lipofuscinoses

mapping relation type: täpne vaste

Mondo ID
MONDO_0016295
YSO tunnus
582
MeSH tree code
C10.574.500.550
C16.320.400.600
C16.320.565.398.641.509
C18.452.584.563.641.509
C18.452.648.398.641.509
eMedicine ID
1178391
KEGG ID
H00149
UMLS CUI
C0027877[3]
ICD-11 ID (MMS)
5C56.1

teema nimetus kujul: Neuronal ceroid lipofuscinosis

GARD rare disease ID
10739[3]
BabelNet ID
01481411n[4]
Orphanet ID
79262[3]
216[3]
OpenAlex ID
C2778650512[5]
ICD-10-CM
E75.4[3][6]
Microsoft Academic ID
2778650512
ICD-11 ID (Foundation)
1568332253
Disease Ontology ID
DOID:14503[7]
National Library of Israel J9U ID
987012431017605171

üksikjuht nähtusest

class of disease

mille alamklass

lipid storage disease[7]
eye degenerative disease[6]
nervous system heredodegenerative disease[6]

meditsiiniline eriala

endokrinoloogia

genetic association

CLN8[8][9]
CTSD[10][11]
TPP1[12][13][14]
CLN6[15][16]
MFSD8[17]
CLN5[18]

Wikimedia projekti fookusnimekiri

Vikipeedia:Vikiprojekt Meditsiin

NCI Thesaurus ID

C61257[19][2]

mapping relation type: täpne vaste

C61257[3]

täpne vaste

http://purl.obolibrary.org/obo/DOID_14503[7]
http://identifiers.org/doid/DOID:14503[20]
http://www.orpha.net/ORDO/Orphanet_216
http://www.orpha.net/ORDO/Orphanet_79262

Viited

  1. ↑ https://github.com/JohnMarkOckerbloom/ftl/blob/master/data/wikimap, 3. aprill 2019
  2. ↑ 2,0 2,1 Monarch Disease Ontology release 2018-06-29, MONDO_0016295, 3. juuli 2018
  3. ↑ 3,0 3,1 3,2 3,3 3,4 3,5 Disease Ontology, 15. mai 2019, DOID:14503
  4. ↑ BabelNet
  5. ↑ OpenAlex, 26. jaanuar 2022, https://docs.openalex.org/download-snapshot/snapshot-data-format
  6. ↑ 6,0 6,1 6,2 Monarch Disease Ontology release 2018-06-29, 3. juuli 2018, MONDO_0016295
  7. ↑ 7,0 7,1 7,2 Disease Ontology, 29. november 2020, DOID:14503
  8. ↑ ClinGen, 14. september 2020, https://search.clinicalgenome.org/kb/gene-validity/68775ed0-576e-4ee7-90f2-d16329ecd7c1--2020-09-07T22:01:16
  9. ↑ ClinGen, 25. jaanuar 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_68775ed0-576e-4ee7-90f2-d16329ecd7c1-2020-09-07T220116.243Z
  10. ↑ ClinGen, 8. detsember 2020, https://search.clinicalgenome.org/kb/gene-validity/d74b1b2a-52a3-4192-b5b4-e4fd46ffc0ba--2020-11-03T18:00:00
  11. ↑ ClinGen, 25. jaanuar 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d74b1b2a-52a3-4192-b5b4-e4fd46ffc0ba-2020-11-03T180000.000Z
  12. ↑ ClinGen, 9. detsember 2020, https://search.clinicalgenome.org/kb/gene-validity/9b2f3b20-fb9a-4b5e-ad8e-e03be5ebb8e5--2020-09-26T00:53:42
  13. ↑ ClinGen, 25. jaanuar 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b2f3b20-fb9a-4b5e-ad8e-e03be5ebb8e5-2020-09-26T005342.102Z
  14. ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000166340/MONDO_0016295, inferred from an Open Targets association score over 0.7
  15. ↑ ClinGen, 14. detsember 2020, https://search.clinicalgenome.org/kb/gene-validity/09654b45-6649-4d11-b43e-aeb6d20fb86d--2020-12-01T17:00:00
  16. ↑ ClinGen, 25. jaanuar 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_09654b45-6649-4d11-b43e-aeb6d20fb86d-2020-12-01T170000.000Z
  17. ↑ ClinGen, 25. veebruar 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0f42cb66-5f28-4674-8f5a-76e15880bbfc-2020-12-15T170000.000Z
  18. ↑ ClinGen, 14. märts 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a522b1d6-5ade-4749-94b8-d5426bbe5961-2021-09-08T023930.981Z
  19. ↑ Disease Ontology, 11. juuli 2018, DOID:14503
  20. ↑ Identifiers.org, https://registry.identifiers.org/registry/doid
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