Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

ELLIS-VAN CREVELD SYNDROME
Synonyms

EVC
ID

http://purl.bioontology.org/ontology/OMIM/225500
altLabel

EVC

MESOECTODERMAL DYSPLASIA

CHONDROECTODERMAL DYSPLASIA
cui

C0013903
Gene Locus

4p16
Gene Symbol

LBN

EVC2

WAD
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU013181

http://purl.bioontology.org/ontology/OMIM/MTHU036368

http://purl.bioontology.org/ontology/OMIM/MTHU011565

http://purl.bioontology.org/ontology/OMIM/MTHU013172

http://purl.bioontology.org/ontology/OMIM/MTHU003988

http://purl.bioontology.org/ontology/OMIM/MTHU003181

http://purl.bioontology.org/ontology/OMIM/MTHU013168

http://purl.bioontology.org/ontology/OMIM/MTHU005092

http://purl.bioontology.org/ontology/OMIM/MTHU007401

http://purl.bioontology.org/ontology/OMIM/MTHU001106

http://purl.bioontology.org/ontology/OMIM/MTHU002570

http://purl.bioontology.org/ontology/OMIM/MTHU056926

http://purl.bioontology.org/ontology/OMIM/MTHU036365

http://purl.bioontology.org/ontology/OMIM/MTHU001153

http://purl.bioontology.org/ontology/OMIM/MTHU013178

http://purl.bioontology.org/ontology/OMIM/MTHU004144

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU013175

http://purl.bioontology.org/ontology/OMIM/MTHU036339

http://purl.bioontology.org/ontology/OMIM/MTHU013176

http://purl.bioontology.org/ontology/OMIM/MTHU023430

http://purl.bioontology.org/ontology/OMIM/MTHU013169

http://purl.bioontology.org/ontology/OMIM/MTHU013177

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU013182

http://purl.bioontology.org/ontology/OMIM/MTHU002571

http://purl.bioontology.org/ontology/OMIM/MTHU013179

http://purl.bioontology.org/ontology/OMIM/MTHU013167

http://purl.bioontology.org/ontology/OMIM/MTHU037414

http://purl.bioontology.org/ontology/OMIM/MTHU013170

http://purl.bioontology.org/ontology/OMIM/MTHU013173
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

602363
notation

225500
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

ELLIS-VAN CREVELD SYNDROME
Scope Statement

Caused by mutation in the EVC gene (EVC, 604831.0001) [MOLECULAR BASIS]

Increased frequency in eastern Pennsylvania Amish [MISCELLANEOUS]

Caused by mutation in the EVC2 (limbin) gene (EVC2, 607231.0001) [MOLECULAR BASIS]
tui

T047
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Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10076418 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10008724 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/62501005 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10008724 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10008724 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10CM/Q77.6 ICD10CM CUI
http://purl.bioontology.org/ontology/MSHFRE/D004613 MSHFRE CUI
http://purl.bioontology.org/ontology/RCD/PG55. RCD CUI
http://purl.bioontology.org/ontology/ICD10/Q77.6 ICD10 CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001065 NDFRT CUI
http://purl.bioontology.org/ontology/MESH/D004613 MESH CUI
http://purl.bioontology.org/ontology/ICD9CM/756.55 ICD9CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/62501005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10076418 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/D4-00A25 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10076418 MEDDRA CUI
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.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