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About:
anauxetic dysplasia 3
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An Entity of Type :
owl:Class
, within Data Space :
linkeddata.uriburner.com:28898
associated with source
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Attributes
Values
type
Class
subClassOf
autosomal recessive disease
anauxetic dysplasia
nodeID://b50941937
label
anauxetic dysplasia 3
described by
https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id
DOID:0080963
database_cross_reference
OMIM:618853
has_obo_namespace
disease_ontology
http://purl.obolib...g/obo/IAO_0000115
A spondyloepimetaphyseal dysplasia that is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations and that has_material_basis_in homozygous mutation in the NEPRO gene on chromosome 3q13.
is
topic
of
Human Disease Ontology
is
annotatedSource
of
nodeID://b50941938
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