Dolichol kinase deficiency (original) (raw)

Property Value
dbo:abstract Dolichol kinase deficiency is a cutaneous condition caused by a mutation in the dolichol kinase gene. It is also known as Congenital disorder of glycosylation 1m. (en)
dbo:icd10 E77.8
dbo:omim 610768 (xsd:integer)
dbo:orpha 91131
dbo:thumbnail wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg?width=300
dbo:wikiPageID 25622113 (xsd:integer)
dbo:wikiPageLength 2146 (xsd:nonNegativeInteger)
dbo:wikiPageRevisionID 998211201 (xsd:integer)
dbo:wikiPageWikiLink dbr:Congenital_disorder_of_glycosylation dbr:Dolichol_kinase dbc:Genodermatoses dbc:Glycoprotein_metabolism_disorders dbr:CEDNIK_syndrome dbr:List_of_cutaneous_conditions
dbp:caption This condition is inherited in an autosomal recessive manner. (en)
dbp:icd E77.8 (en)
dbp:name Dolichol kinase deficiency (en)
dbp:omim 610768 (xsd:integer)
dbp:orphanet 91131 (xsd:integer)
dbp:synonyms Hypotonia and ichthyosis due to dolichol phosphate deficiency (en)
dbp:wikiPageUsesTemplate dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Glycoproteinoses dbt:Dermatology-stub
dcterms:subject dbc:Genodermatoses dbc:Glycoprotein_metabolism_disorders
gold:hypernym dbr:Condition
rdf:type owl:Thing wikidata:Q12136 yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:Disorder114052403 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:WikicatGlycoproteinMetabolismDisorders dbo:Disease yago:State100024720
rdfs:comment Dolichol kinase deficiency is a cutaneous condition caused by a mutation in the dolichol kinase gene. It is also known as Congenital disorder of glycosylation 1m. (en)
rdfs:label Dolichol kinase deficiency (en)
owl:sameAs freebase:Dolichol kinase deficiency yago-res:Dolichol kinase deficiency wikidata:Dolichol kinase deficiency https://global.dbpedia.org/id/4iYWB
prov:wasDerivedFrom wikipedia-en:Dolichol_kinase_deficiency?oldid=998211201&ns=0
foaf:depiction wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg
foaf:isPrimaryTopicOf wikipedia-en:Dolichol_kinase_deficiency
foaf:name Dolichol kinase deficiency (en)
is dbo:wikiPageWikiLink of dbr:Dolichol_kinase dbr:List_of_skin_conditions
is foaf:primaryTopic of wikipedia-en:Dolichol_kinase_deficiency