About: spondyloepimetaphyseal dysplasia, Strudwick type

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About: spondyloepimetaphyseal dysplasia, Strudwick type Goto Sponge NotDistinct Permalink

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

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	autosomal dominant disease spondyloepimetaphyseal dysplasia nodeID://b50940240 nodeID://b50940241 nodeID://b50940242 nodeID://b50940243 nodeID://b50940244 nodeID://b50940245 nodeID://b50940246 nodeID://b50940247
label	spondyloepimetaphyseal dysplasia, Strudwick type
comment	OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0080028
database_cross_reference	OMIM:184250
has_obo_namespace	disease_ontology
in_subset	DO_rare_slim
http://purl.obolib...g/obo/IAO_0000115	A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50940248

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