Ellis–Van Creveld syndrome
Ilme
Human disease
mille alamklass
rare syndrome with cardiac malformations[4]
rare abdominal surgical disease[4]
syndromic renal or urinary tract malformation[4]
nimetatud ... järgi
Simon van Creveld
Richard Ellis
meditsiiniline eriala
medical genetics
Wikimedia projekti fookusnimekiri
NCI Thesaurus ID
C84684[3]
täpne vaste
Commonsi kategooria
Ellis–van Creveld syndrome
Viited
- ↑ Freebase Data Dumps, 28. oktoober 2013
- ↑ Monarch Disease Ontology release 2018-06-29, MONDO_0009162, 28. juuli 2018
- ↑ 3,0 3,1 3,2 3,3 3,4 3,5 Disease Ontology, 15. mai 2019, DOID:12714
- ↑ 4,0 4,1 4,2 4,3 4,4 4,5 4,6 4,7 4,8 Monarch Disease Ontology release 2018-06-29, 28. juuli 2018, MONDO_0009162
- ↑ 5,0 5,1 5,2 5,3 Disease Ontology, 29. november 2020, DOID:12714
- ↑ P57679, 13. august 2019, UniProt
- ↑ ClinGen, 4. mai 2020, https://search.clinicalgenome.org/kb/gene-validity/9591
- ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000072840/MONDO_0009162, inferred from an Open Targets association score over 0.7
- ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000072840/Orphanet_289, inferred from an Open Targets association score over 0.7
- ↑ Q86UK5, 13. august 2019, UniProt
- ↑ ClinGen, 4. mai 2020, https://search.clinicalgenome.org/kb/gene-validity/9592
- ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000173040/MONDO_0009162, inferred from an Open Targets association score over 0.7
- ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000173040/Orphanet_289, inferred from an Open Targets association score over 0.7
- ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000138036/Orphanet_289, inferred from an Open Targets association score over 0.7
- ↑ Identifiers.org, https://registry.identifiers.org/registry/doid