About: Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome

An Entity of Type: disease, from Named Graph: http://dbpedia.org, within Data Space: dbpedia.org

Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare genetic disorder which is characterized by osseous anomalies resulting in short stature and other afflictions.

Property	Value
dbo:abstract	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare genetic disorder which is characterized by osseous anomalies resulting in short stature and other afflictions. (en)
dbo:alias	(en) SMED-SL syndrome (en)
dbo:thumbnail	wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg?width=300
dbo:wikiPageID	71227675 (xsd:integer)
dbo:wikiPageLength	10225 (xsd:nonNegativeInteger)
dbo:wikiPageRevisionID	1098149592 (xsd:integer)
dbo:wikiPageWikiLink	dbr:Puerto_Rico dbr:Death dbr:Pediatry dbr:Genetic_disorder dbr:Genetic_mutation dbr:Consanguinity dbr:Platyspondyly dbc:Autosomal_recessive_disorders dbr:Ligaments dbr:Sudden_infant_death_syndrome dbr:Pectus_excavatum dbr:Medical_genetics dbr:Whole_genome_sequencing dbc:Genetic_diseases_and_disorders dbr:Dwarfism dbr:Pakistan dbr:Chromosome_1 dbr:Falx_cerebri dbc:Growth_disorders dbr:Larynx dbr:High-arched_palate dbr:DDR2_(gene) dbr:Metaphyses dbr:Philtrum dbr:Sephardic_Jewish dbr:Premature_death dbr:Epiphyses dbr:Atlantoaxial_instability dbr:Radiographs dbr:Sephardic_Jew
dbp:causes	dbr:Genetic_mutation
dbp:complications	dbr:Death
dbp:deaths	10 (xsd:integer)
dbp:diagnosis	This condition is diagnosed mainly through radiographs and sequencing of the DDR2 gene . (en)
dbp:differential	dbr:Sudden_infant_death_syndrome dbr:Dwarfism
dbp:duration	Lifelong (en)
dbp:frequency	rare, only 24 cases have been described (en)
dbp:name	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome (en)
dbp:onset	Birth (en)
dbp:prevention	None (en)
dbp:prognosis	Poor (en)
dbp:risks	Being of Puerto Rican descent, being part of a consanguineous family. (en)
dbp:specialty	dbr:Pediatry dbr:Medical_genetics
dbp:symptoms	Osseous anomalies which result primarily in short stature (en)
dbp:synonyms	SMED-SL syndrome (en)
dbp:treatment	treatment is done on the symptoms (en)
dbp:wikiPageUsesTemplate	dbt:Reflist dbt:Infobox_medical_condition
dcterms:subject	dbc:Autosomal_recessive_disorders dbc:Genetic_diseases_and_disorders dbc:Growth_disorders
rdf:type	owl:Thing wikidata:Q12136 dbo:Disease
rdfs:comment	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare genetic disorder which is characterized by osseous anomalies resulting in short stature and other afflictions. (en)
rdfs:label	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome (en)
owl:sameAs	wikidata:Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome https://global.dbpedia.org/id/GQCwU
prov:wasDerivedFrom	wikipedia-en:Spondyloepimetaphyseal_dysplasia-short...cation_syndrome?oldid=1098149592&ns=0
foaf:depiction	wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg
foaf:isPrimaryTopicOf	wikipedia-en:Spondyloepimetaphyseal_dysplasia-short_limb-abnormal_calcification_syndrome
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is foaf:primaryTopic of	wikipedia-en:Spondyloepimetaphyseal_dysplasia-short_limb-abnormal_calcification_syndrome