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About:
acrofacial dysostosis
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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
dysostosis
label
acrofacial dysostosis
described by
https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id
DOID:0060379
created_by
elvira
creation_date
2015-09-21T15:24:28Z
has_obo_namespace
disease_ontology
http://purl.obolib...g/obo/IAO_0000115
A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene.
is
subClassOf
of
Nager acrofacial dysostosis
acrofacial dysostosis Cincinnati type
acrofacial dysostosis Rodriguez type
acrofacial dysostosis, Catania type
acrofacial dysostosis, Patagonia type
Weyers acrofacial dysostosis
is
topic
of
Human Disease Ontology
is
annotatedSource
of
nodeID://b50938746
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