About: spondyloepiphyseal dysplasia Stanescu type

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal dominant disease spondyloepiphyseal dysplasia nodeID://b50946431
label	spondyloepiphyseal dysplasia Stanescu type
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0112281
database_cross_reference	OMIM:616583 ORDO:459051
has_exact_synonym	SED Stanescu type SEDSTN
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50946432

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