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About:
spondyloepimetaphyseal dysplasia, Missouri type
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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
OMIM mapping confirmed by DO. [SN].
Attributes
Values
type
Class
subClassOf
autosomal dominant disease
spondyloepimetaphyseal dysplasia
nodeID://b50940250
nodeID://b50940251
nodeID://b50940252
nodeID://b50940253
label
spondyloepimetaphyseal dysplasia, Missouri type
comment
OMIM mapping confirmed by DO. [SN].
described by
https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id
DOID:0080030
database_cross_reference
OMIM:602111
has_obo_namespace
disease_ontology
http://purl.obolib...g/obo/IAO_0000115
A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities.
is
topic
of
Human Disease Ontology
is
annotatedSource
of
nodeID://b50940254
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