Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023
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Preferred Name

Ellis-van Creveld syndrome
Synonyms

Ellis-van Creveld syndrome

Chondroectodermal dysplasia

mesodermic dysplasia

Mesoectodermal dysplasia

Ellis-VAN Creveld syndrome

Ellis Van Creveld syndrome

EVC
Definitions

Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.
ID

http://purl.obolibrary.org/obo/MONDO_0009162
has_exact_synonym

Ellis-van Creveld syndrome

Chondroectodermal dysplasia

mesodermic dysplasia
has_related_synonym

Mesoectodermal dysplasia

Ellis-VAN Creveld syndrome

Ellis Van Creveld syndrome

EVC
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4948
label

Ellis-van Creveld syndrome
prefixIRI

MONDO:0009162
prefLabel

Ellis-van Creveld syndrome
seeAlso

https://rarediseases.info.nih.gov/diseases/1301/ellis-van-creveld-syndrome
textual definition

Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.
subClassOf

http://purl.obolibrary.org/obo/MONDO_0005267

http://purl.obolibrary.org/obo/MONDO_0019287

http://purl.obolibrary.org/obo/MONDO_0018770

http://purl.obolibrary.org/obo/MONDO_0006025
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http://purl.obolibrary.org/obo/MONDO_0009162 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009162 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009162 KTAO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009162 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_289 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009162 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_12714 DOID LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.250.398 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D004613 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0009162 KTAO LOOM
http://www.gamuts.net/entity#Ellis_van_Creveld_syndrome GAMUTS LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039333 PMAPP-PMO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0013903 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.850.250.398 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#gen_id_16001 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.350.398 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D004613 MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_287 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.708.327 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.831.350.398 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Ellis-Van_Creveld_Syndrome CSEO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID17748 DERMLEX LOOM
http://purl.bioontology.org/ontology/OMIM/225500 OMIM LOOM
http://purl.obolibrary.org/obo/OMIT_0005861 OMIT LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_12714 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.804.350.398 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D004613 MDM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84684 NCIT LOOM
http://purl.jp/bio/4/id/200906069421269978 IOBC LOOM
http://identifiers.org/omim/225500 REXO LOOM
http://identifiers.org/omim/225500 GEXO LOOM
http://identifiers.org/omim/225500 RETO LOOM
http://purl.obolibrary.org/obo/OMIM_225500 CCO LOOM
http://purl.obolibrary.org/obo/DERMO_0000091 DERMO LOOM
http://purl.obolibrary.org/obo/NCIT_C84684 BERO LOOM
http://www.orpha.net/ORDO/Orphanet_289 ORDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#4369 OCHV LOOM
http://purl.obolibrary.org/obo/DOID_12714 CLO LOOM
http://purl.obolibrary.org/obo/DOID_12714 DTO LOOM
http://purl.obolibrary.org/obo/DOID_12714 BAO LOOM
http://purl.obolibrary.org/obo/DOID_12714 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_12714 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_12714 FNS-H LOOM
http://purl.bioontology.org/ontology/MEDDRA/10076418 MEDDRA LOOM