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About:
spondyloepiphyseal dysplasia tarda with intellectual disability
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An Entity of Type :
owl:Class
, within Data Space :
linkeddata.uriburner.com:28898
associated with source
document(s)
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Attributes
Values
type
Class
subClassOf
autosomal recessive disease
spondyloepiphyseal dysplasia tarda
nodeID://b50946450
label
spondyloepiphyseal dysplasia tarda with intellectual disability
described by
https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id
DOID:0112292
database_cross_reference
MESH:C564796
OMIM:271620
ORDO:163665
UMLS_CUI:C1849053
has_obo_namespace
disease_ontology
http://purl.obolib...g/obo/IAO_0000115
A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of spondyloepiphyseal dysplasia associated with mild to moderate intellectual disability.
is
topic
of
Human Disease Ontology
is
annotatedSource
of
nodeID://b50946451
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