About: spondyloepimetaphyseal dysplasia, Pakistani 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 recessive disease spondyloepimetaphyseal dysplasia nodeID://b50937636
label	spondyloepimetaphyseal dysplasia, Pakistani type
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0050812
created_by	lschriml
creation_date	2013-12-04T01:24:55Z
database_cross_reference	OMIM:612847
has_exact_synonym	spondyloepimetaphyseal dysplasia Pakistani type (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50937637

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