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About:
Carvajal syndrome
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An Entity of Type :
owl:Class
, within Data Space :
linkeddata.uriburner.com:28898
associated with source
document(s)
New Facet based on Instances of this Class
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
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