About: spondyloepiphyseal dysplasia with congenital joint dislocations

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About: spondyloepiphyseal dysplasia with congenital joint dislocations Goto Sponge NotDistinct Permalink

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

Attributes	Values
type	Class
subClassOf	physical disorder spondyloepiphyseal dysplasia nodeID://b50937638 nodeID://b50937639
label	spondyloepiphyseal dysplasia with congenital joint dislocations
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0050813
created_by	lschriml
creation_date	2013-12-04T01:30:01Z
database_cross_reference	OMIM:143095
has_exact_synonym	Humero-spinal dysostosis with congenital heart disease (en) CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS (en) CHST3-Related Skeletal Dysplasia (en) Humerospinal Dysostosis (en) Humerospinal dysostosis (en) Kozlowski Celermajer Tink syndrome (en) Omani Type (en) Spondyloepiphyseal Dysplasia (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50937640

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