About: spondyloepiphyseal dysplasia Nishimura 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://b50946442
label	spondyloepiphyseal dysplasia Nishimura type
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0112288
database_cross_reference	OMIM:618618
has_exact_synonym	SEDN
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A spondyloepiphyseal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, midface hypoplasia with a small nose, mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses that has_material_basis_in heterozygous gain-of-function mutation in MIR140 on chromosome 16q22.1.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50946443

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