About: Ellis-Van Creveld Syndrome

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Ellis-Van Creveld Syndrome Goto Sponge NotDistinct Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	Ellis-Van Creveld Syndrome
rdfs:subClassOf	Syndrome Rare Non-Neoplastic Disorder
Has_NICHD_Parent	Genetic Disorder
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Ellis-Van Creveld Syndrome
UMLS_CUI	C0013903
Contributing_Source	NICHD
FULL_SYN	Ellis-Van Creveld SyndromePTNCI Chondroectodermal DysplasiaSYNCI Chondroectodermal DysplasiaPTNICHD
DEFINITION	A rare autosomal recessive syndrome caused by mutations in the EVC gene. It is characterized by dwarfism, small chest, ectodermal dysplasia, and postaxial polydactyly. There is an increased frequency of congenital heart malformations.NCI
code	C84684
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0007241
is sameAs of	Ellis-Van Creveld Syndrome

Faceted Search & Find service v1.16.121 as of Mar 31 2025

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3240 as of Mar 31 2025, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 13 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software