FNS-Harmony

Last uploaded: November 2, 2023
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Preferred Name

Ellis-Van Creveld syndrome
Synonyms
Definitions

A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either EVC or EVC2 on chromosome 4p16.2.
ID

http://purl.obolibrary.org/obo/DOID_12714
definition

A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either EVC or EVC2 on chromosome 4p16.2.
imported from

http://purl.obolibrary.org/obo/doid.owl
label

Ellis-Van Creveld syndrome
prefixIRI

DOID:12714
prefLabel

Ellis-Van Creveld syndrome
subClassOf

http://purl.obolibrary.org/obo/DOID_0050737

http://purl.obolibrary.org/obo/DOID_225
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http://purl.obolibrary.org/obo/DOID_12714 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_12714 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_12714 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_12714 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_12714 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_12714 NIFSTD 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 DOVES 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.bioontology.org/ontology/MEDDRA/10076418 MEDDRA LOOM