Medical Subject Headings

Last uploaded: January 31, 2024

Details
Visualization
Notes ( 0 )
Class Mappings ( )

Preferred Name	Ellis-Van Creveld Syndrome
Synonyms	Ellis-Van Creveld Dysplasia
Definitions	Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed)
ID	http://purl.bioontology.org/ontology/MESH/D004613
altLabel	Ellis-Van Creveld Dysplasia Dysplasia, Chondroectodermal Syndrome, Ellis-Van Creveld Dysplasia, Ellis-Van Creveld Ellis Van Creveld Dysplasia Dysplasia, Mesoectodermal Mesoectodermal Dysplasias Chondroectodermal Dysplasias Mesoectodermal Dysplasia Chondroectodermal Dysplasia Ellis Van Creveld Syndrome
AN	do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
AQL	BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui	C0013903
DC	1
definition	Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed)
DX	19650101
HN	65(63)
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401
Inverse of RO	http://purl.bioontology.org/ontology/MESH/D002357
Machine permutation	65
Mapped from	http://purl.bioontology.org/ontology/MESH/C537572 http://purl.bioontology.org/ontology/MESH/C537571 http://purl.bioontology.org/ontology/MESH/C566982
MDA	19990101
MMR	20160120
MN	C16.131.077.350.398 C17.800.804.350.398 C05.116.099.708.327 C16.131.831.350.398 C17.800.827.250.398 C16.320.850.250.398
notation	D004613
prefLabel	Ellis-Van Creveld Syndrome
TERMUI	T014079 T014078 T841322 T000892494
TH	OMIM (2013) NLM (1963) UNK (19XX) GHR (2014) ORD (2010)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D004476 http://purl.bioontology.org/ontology/MESH/D010009

Add comment

Add proposal

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display

Create mapping

Mapping To	Ontology	Source
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/OMIM/607261	OMIM	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/ICD9CM/756.55	ICD9CM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/62501005	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/OMIM/225500	OMIM	CUI
http://purl.bioontology.org/ontology/MDRFRE/10076418	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRGER/10076418	MDRGER	CUI
http://purl.bioontology.org/ontology/OMIM/604831	OMIM	CUI
http://purl.bioontology.org/ontology/SNMI/D4-00A25	SNMI	CUI
http://purl.bioontology.org/ontology/MDRGER/10008724	MDRGER	CUI
http://purl.bioontology.org/ontology/MEDDRA/10076418	MEDDRA	CUI
http://purl.obolibrary.org/obo/MONDO_0009162	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009162	EFO	LOOM
http://www.orpha.net/ORDO/Orphanet_289	EFO	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	EFO	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://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://www.orpha.net/ORDO/Orphanet_289	EFO	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	DOID	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