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