About: Schimke immuno-osseous dysplasia

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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://b50938926
label	Schimke immuno-osseous dysplasia (en)
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060490
database_cross_reference	GARD:4984 MESH:C536629 NCI:C135087 OMIM:242900 ORDO:1830 SNOMEDCT_US_2021_09_01:723995003 UMLS_CUI:C0877024
has_exact_synonym	Schimke immunoosseous dysplasia (en) Schimke syndrome (en) immunoosseous dysplasia Schimke type (en) spondyloepiphyseal dysplasia - nephrotic syndrome (en)
has_obo_namespace	disease_ontology
in_subset	DO_rare_slim NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50938927

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