About: spondylometaphyseal dysplasia Sedaghatian 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 spondylometaphyseal dysplasia nodeID://b50946459
label	spondylometaphyseal dysplasia Sedaghatian type
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0112298
database_cross_reference	GARD:4993 MESH:C535798 OMIM:250220 ORDO:93317 UMLS_CUI:C1855229
has_exact_synonym	SMDS Sedaghatian chondrodysplasia congenital lethal metaphyseal chondrodysplasia
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorrhage, severe hypotonia and cardiorespiratory problems that has_material_basis_in homozygous or compound heterozygous mutation in GPX4 on chromosome 19p13.3.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50946460

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