neuronal ceroid lipofuscinosis
Gwedd
Human disease
enghraifft o'r canlynol
dosbarth o glefyd
isddosbarth o'r canlynol
lipid storage disease[7]
eye degenerative disease[6]
nervous system heredodegenerative disease[6]
arbenigedd meddygol
endocrinoleg
ar restr sylw'r prosiect Wikimedia
Cyfeiriadau
- ↑ https://github.com/JohnMarkOckerbloom/ftl/blob/master/data/wikimap, 3 Ebrill 2019
- ↑ 2.0 2.1 Monarch Disease Ontology release 2018-06-29, MONDO_0016295, 3 Gorffennaf 2018
- ↑ 3.0 3.1 3.2 3.3 3.4 3.5 Disease Ontology, 15 Mai 2019, DOID:14503
- ↑ BabelNet
- ↑ OpenAlex, 26 Ionawr 2022, https://docs.openalex.org/download-snapshot/snapshot-data-format
- ↑ 6.0 6.1 6.2 Monarch Disease Ontology release 2018-06-29, 3 Gorffennaf 2018, MONDO_0016295
- ↑ 7.0 7.1 7.2 Disease Ontology, 29 Tachwedd 2020, DOID:14503
- ↑ ClinGen, 14 Medi 2020, https://search.clinicalgenome.org/kb/gene-validity/68775ed0-576e-4ee7-90f2-d16329ecd7c1--2020-09-07T22:01:16
- ↑ ClinGen, 25 Ionawr 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_68775ed0-576e-4ee7-90f2-d16329ecd7c1-2020-09-07T220116.243Z
- ↑ ClinGen, 8 Rhagfyr 2020, https://search.clinicalgenome.org/kb/gene-validity/d74b1b2a-52a3-4192-b5b4-e4fd46ffc0ba--2020-11-03T18:00:00
- ↑ ClinGen, 25 Ionawr 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d74b1b2a-52a3-4192-b5b4-e4fd46ffc0ba-2020-11-03T180000.000Z
- ↑ ClinGen, 9 Rhagfyr 2020, https://search.clinicalgenome.org/kb/gene-validity/9b2f3b20-fb9a-4b5e-ad8e-e03be5ebb8e5--2020-09-26T00:53:42
- ↑ ClinGen, 25 Ionawr 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b2f3b20-fb9a-4b5e-ad8e-e03be5ebb8e5-2020-09-26T005342.102Z
- ↑ Open Targets Platform, 24 Awst 2023, https://platform.opentargets.org/evidence/ENSG00000166340/MONDO_0016295, inferred from an Open Targets association score over 0.7
- ↑ ClinGen, 14 Rhagfyr 2020, https://search.clinicalgenome.org/kb/gene-validity/09654b45-6649-4d11-b43e-aeb6d20fb86d--2020-12-01T17:00:00
- ↑ ClinGen, 25 Ionawr 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_09654b45-6649-4d11-b43e-aeb6d20fb86d-2020-12-01T170000.000Z
- ↑ ClinGen, 25 Chwefror 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0f42cb66-5f28-4674-8f5a-76e15880bbfc-2020-12-15T170000.000Z
- ↑ ClinGen, 14 Mawrth 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a522b1d6-5ade-4749-94b8-d5426bbe5961-2021-09-08T023930.981Z
- ↑ Disease Ontology, 11 Gorffennaf 2018, DOID:14503
- ↑ Identifiers.org, https://registry.identifiers.org/registry/doid