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About:
spondyloepiphyseal dysplasia
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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
osteochondrodysplasia
label
spondyloepiphyseal dysplasia
described by
https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id
DOID:0112280
database_cross_reference
GARD:7687
has_exact_synonym
SED
has_obo_namespace
disease_ontology
http://purl.obolib...g/obo/IAO_0000115
An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs.
is
subClassOf
of
spondyloepiphyseal dysplasia congenita
spondyloepiphyseal dysplasia with congenital joint dislocations
spondyloepiphyseal dysplasia Maroteaux type
spondyloepiphyseal dysplasia Stanescu type
spondyloepiphyseal dysplasia Kimberley type
spondyloepiphyseal dysplasia Kondo-Fu type
spondyloepiphyseal dysplasia tarda
spondyloepiphyseal dysplasia with punctate corneal dystrophy
spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
spondyloepiphyseal dysplasia Nishimura type
is
topic
of
Human Disease Ontology
is
annotatedSource
of
nodeID://b50946430
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