| http://dbpedia.org/ontology/abstract
|
SLC35A1-CDG is a rare inherited disorder t … SLC35A1-CDG is a rare inherited disorder that mainly affects the vascular systems of the body. It forms part of a large group of disorders called congenital disorders of glycosylation. It is caused by mutations in the SLC35A1 gene, located in the sixth chromosome.5A1 gene, located in the sixth chromosome.
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| http://dbpedia.org/ontology/alias
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CDG IIf, CONGENITAL DISORDER OF GLYCOSYLAT … CDG IIf, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, CDG2F, CDG syndrome type IIf, CMP-sialic acid transporter deficiency, Carbohydrate deficient glycoprotein syndrome type IIf, Congenital disorder of glycosylation type 2f, Congenital disorder of glycosylation type IIf, CDG-IIf, SLC35A1-CDGycosylation type IIf, CDG-IIf, SLC35A1-CDG
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| http://dbpedia.org/ontology/thumbnail
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http://commons.wikimedia.org/wiki/Special:FilePath/Autosomal_recessive_-_en.svg?width=300 +
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| http://dbpedia.org/ontology/wikiPageID
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71542754
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13857
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| http://dbpedia.org/ontology/wikiPageRevisionID
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1106657978
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| http://dbpedia.org/ontology/wikiPageWikiLink
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http://dbpedia.org/resource/SLC35A1 +
, http://dbpedia.org/resource/Bunions +
, http://dbpedia.org/resource/Megakaryocytes +
, http://dbpedia.org/resource/SRD5A3-CDG +
, http://dbpedia.org/resource/Congenital_disorders_of_glycosylation +
, http://dbpedia.org/resource/Category:Genetic_diseases_and_disorders +
, http://dbpedia.org/resource/Hypotelorism +
, http://dbpedia.org/resource/Neutropenia +
, http://dbpedia.org/resource/Thrombocytopenia +
, http://dbpedia.org/resource/Ataxia +
, http://dbpedia.org/resource/Hyporeflexia +
, http://dbpedia.org/resource/Joint_hypermobility +
, http://dbpedia.org/resource/Medical_genetics +
, http://dbpedia.org/resource/Microcephaly +
, http://dbpedia.org/resource/Clinodactyly +
, http://dbpedia.org/resource/Genetic_mutation +
, http://dbpedia.org/resource/Cellulitis +
, http://dbpedia.org/resource/PMM2_deficiency +
, http://dbpedia.org/resource/Pneumonia +
, http://dbpedia.org/resource/Hypoxia_%28medical%29 +
, http://dbpedia.org/resource/Encephalopathy +
, http://dbpedia.org/resource/Hypotonia +
, http://dbpedia.org/resource/Intellectual_disability +
, http://dbpedia.org/resource/Single-nucleotide_polymorphism +
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| http://dbpedia.org/property/causes
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http://dbpedia.org/resource/Genetic_mutation +
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| http://dbpedia.org/property/complications
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Early death
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| http://dbpedia.org/property/deaths
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out of the 3 people diagnosed with this condition, 1 is suspected to still be alive, the other 2 died due to surgical complications that were aggravated by their condition.
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| http://dbpedia.org/property/duration
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Lifelong
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| http://dbpedia.org/property/frequency
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very rare, only 3 cases have been described in medical literature
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| http://dbpedia.org/property/onset
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Birth-Childhood
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| http://dbpedia.org/property/prevention
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none
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| http://dbpedia.org/property/prognosis
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Medium - Poor
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| http://dbpedia.org/property/specialty
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http://dbpedia.org/resource/Medical_genetics +
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| http://dbpedia.org/property/symptoms
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Vascular system abnormalities
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| http://dbpedia.org/property/synonyms
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CDG IIf, CONGENITAL DISORDER OF GLYCOSYLAT … CDG IIf, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, CDG2F, CDG syndrome type IIf, CMP-sialic acid transporter deficiency, Carbohydrate deficient glycoprotein syndrome type IIf, Congenital disorder of glycosylation type 2f, Congenital disorder of glycosylation type IIf, CDG-IIf, SLC35A1-CDGycosylation type IIf, CDG-IIf, SLC35A1-CDG
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http://dbpedia.org/resource/Template:Reflist +
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http://dbpedia.org/resource/Category:Genetic_diseases_and_disorders +
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http://en.wikipedia.org/wiki/SLC35A1-CDG?oldid=1106657978&ns=0 +
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http://commons.wikimedia.org/wiki/Special:FilePath/Autosomal_recessive_-_en.svg +
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http://en.wikipedia.org/wiki/SLC35A1-CDG +
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http://www.wikidata.org/entity/Q12136 +
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| rdfs:comment |
SLC35A1-CDG is a rare inherited disorder t … SLC35A1-CDG is a rare inherited disorder that mainly affects the vascular systems of the body. It forms part of a large group of disorders called congenital disorders of glycosylation. It is caused by mutations in the SLC35A1 gene, located in the sixth chromosome.5A1 gene, located in the sixth chromosome.
|
| rdfs:label |
SLC35A1-CDG
|
