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Ellis–Van Creveld syndrome

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Human disease

Välised allikad

Freebase
/m/0525gt[1]
Genetics Home Reference Conditions ID
ellis-van-creveld-syndrome
MedlinePlus ID
001667
MeSH descriptor ID
D004613[2]

teema nimetus kujul: Ellis-Van Creveld Syndrome

mapping relation type: täpne vaste

MeSH tree code
C05.116.099.708.327
C16.131.077.350.398
C16.131.831.350.398
C16.320.850.250.398
C17.800.804.350.398
C17.800.827.250.398
eMedicine ID
943684
DiseasesDB
29309
PatientsLikeMe condition ID
ellis-van-creveld-syndrome
KEGG ID
H00503
UMLS CUI
C0013903[3]
GARD rare disease ID
1301[4][3]
UniProt disease ID
DI-00449
ICD-10-CM
Q77.6[3][4]
Encyclopædia Britannica Online ID
science/chondroectodermal-dysplasia

teema nimetus kujul: chondroectodermal dysplasia

ICD-11 (foundation)
278346811
OMIM ID
225500[3]
Microsoft Academic ID
2776199626
Orphanet ID
289[4]

mapping relation type: täpne vaste

Mondo ID
MONDO_0009162
Disease Ontology ID
DOID:12714[5]

üksikjuht nähtusest

developmental defect during embryogenesis[4]
class of disease

mille alamklass

autosomal recessive disease[4][5]
rare syndrome with cardiac malformations[4]
rare abdominal surgical disease[4]
syndromic renal or urinary tract malformation[4]
sündroom[5]
haigus

nimetatud ... järgi

Simon van Creveld
Richard Ellis

meditsiiniline eriala

medical genetics

genetic association

EVC[6][7][8][9]
EVC2[10][11][12][13]
DYNC2LI1[14]

Wikimedia projekti fookusnimekiri

Vikipeedia:Vikiprojekt Meditsiin

ICD-9-CM

756.55[3][4]

NCI Thesaurus ID

C84684[3]

täpne vaste

http://purl.obolibrary.org/obo/DOID_12714[5]
http://identifiers.org/doid/DOID:12714[15]
http://www.orpha.net/ORDO/Orphanet_289

Commonsi kategooria

Ellis–van Creveld syndrome

Viited

  1. ↑ Freebase Data Dumps, 28. oktoober 2013
  2. ↑ Monarch Disease Ontology release 2018-06-29, MONDO_0009162, 28. juuli 2018
  3. ↑ 3,0 3,1 3,2 3,3 3,4 3,5 Disease Ontology, 15. mai 2019, DOID:12714
  4. ↑ 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. ↑ 5,0 5,1 5,2 5,3 Disease Ontology, 29. november 2020, DOID:12714
  6. ↑ P57679, 13. august 2019, UniProt
  7. ↑ ClinGen, 4. mai 2020, https://search.clinicalgenome.org/kb/gene-validity/9591
  8. ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000072840/MONDO_0009162, inferred from an Open Targets association score over 0.7
  9. ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000072840/Orphanet_289, inferred from an Open Targets association score over 0.7
  10. ↑ Q86UK5, 13. august 2019, UniProt
  11. ↑ ClinGen, 4. mai 2020, https://search.clinicalgenome.org/kb/gene-validity/9592
  12. ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000173040/MONDO_0009162, inferred from an Open Targets association score over 0.7
  13. ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000173040/Orphanet_289, inferred from an Open Targets association score over 0.7
  14. ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000138036/Orphanet_289, inferred from an Open Targets association score over 0.7
  15. ↑ Identifiers.org, https://registry.identifiers.org/registry/doid
Pärit leheküljelt "https://et.wikipedia.org/wiki/Eri:AboutTopic/Q1332448"