About: Carvajal syndrome

Not logged in : Login

(Sponging disallowed)

Facets (new session)
Description
Metadata
Settings
- Rule:
- Inverse Functional Properties:
- "Same As":

About: Carvajal syndrome Goto Sponge Distinct Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	Naxos disease
label	Carvajal syndrome
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0090128
database_cross_reference	GARD:5595 OMIM:605676 ORDO:65282
has_exact_synonym	DCWHK (en) dilated cardiomyopathy with woolly hair and keratoderma (en) palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50942311

Faceted Search & Find service v1.17_git149 as of Dec 03 2024

Alternative Linked Data Documents: iSPARQL | ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 08.03.3331 as of Aug 25 2024, on Linux (x86_64-ubuntu_noble-linux-glibc2.38-64), Single-Server Edition (378 GB total memory, 16 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software