About: spondyloepimetaphyseal dysplasia, Genevieve-type

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About: spondyloepimetaphyseal dysplasia, Genevieve-type 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	autosomal recessive disease spondyloepimetaphyseal dysplasia nodeID://b50941231
label	spondyloepimetaphyseal dysplasia, Genevieve-type
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0080576
database_cross_reference	GARD:10057 OMIM:610442 ORDO:168454
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A spondyloepimetaphyseal dysplasia that is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses and has_material_basis_in homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50941232

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