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About:
SHOX-related short stature
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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
monogenic disease
bone development disease
nodeID://b50946120
label
SHOX-related short stature
described by
https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id
DOID:0112120
database_cross_reference
OMIM:300582
ORDO:314795
has_exact_synonym
idiopathic familial short stature
has_obo_namespace
disease_ontology
http://purl.obolib...g/obo/IAO_0000115
A bone development disease characterized by height below the third percentile for chronological age that has_material_basis_in mutation in SHOX or SHOXY on chromosomes Xp22.33 and Yp11.2, respectively.
is
topic
of
Human Disease Ontology
is
annotatedSource
of
nodeID://b50946121
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