| dbo:abstract |
نقص الجالاكتوز إبيميراس، المعروف أيضا باسم نقص غيل، غالاكتوسيميا الثالث ونقص أودب الجالاكتوز -4 إبيميراس، هو نادر، شكل متنحية مقهورة من الجالاكتوز في الدم يرتبط مع نقص في إبيميراس انزيم غالاكتوز. (ar) Galactose epimerase deficiency, also known as GALE deficiency, Galactosemia III and UDP-galactose-4-epimerase deficiency, is a rare, autosomal recessive form of galactosemia associated with a deficiency of the enzyme galactose epimerase. (en) |
| dbo:diseasesDB |
29842 |
| dbo:geneReviewsId |
51671 |
| dbo:geneReviewsName |
Epimerase Deficiency Galactosemia (en) |
| dbo:icd10 |
E74.2 |
| dbo:omim |
230350 (xsd:integer) |
| dbo:orpha |
79238 |
| dbo:thumbnail |
wiki-commons:Special:FilePath/UDP-glucose.png?width=300 |
| dbo:wikiPageID |
11001441 (xsd:integer) |
| dbo:wikiPageLength |
10140 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID |
1048138932 (xsd:integer) |
| dbo:wikiPageWikiLink |
dbr:Cataracts dbr:Epimerase_and_racemase dbr:Uridine_diphosphate_glucose dbr:Enzyme dbr:Galactosemia dbr:Gene dbc:Autosomal_recessive_disorders dbr:Pentose_phosphate_pathway dbr:Autosomal_recessive dbr:Glycogen_phosphorylase dbc:Rare_diseases dbr:Jaundice dbr:Hypotonia dbr:Dominance_(genetics) dbr:Autosome dbr:Phosphoglucomutase dbr:Splenomegaly dbr:Purkinje_cells dbr:Turnover_number dbr:Specificity_constant dbr:Galactose_epimerase dbr:File:Autosomal_recessive_-_en.svg dbr:File:Complete_galactose_metabolism.png dbr:Hypertrophic_hypergonadism |
| dbp:caption |
dbr:Uridine_diphosphate_glucose |
| dbp:diseasesdb |
29842 (xsd:integer) |
| dbp:genereviewsname |
Epimerase Deficiency Galactosemia (en) |
| dbp:genereviewsnbk |
51671 (xsd:integer) |
| dbp:icd |
E74.2 (en) |
| dbp:name |
Galactose epimerase deficiency (en) |
| dbp:omim |
230350 (xsd:integer) |
| dbp:orphanet |
79238 (xsd:integer) |
| dbp:synonyms |
Uridine diphosphate galactose-4-epimerase deficiency (en) |
| dbp:wikiPageUsesTemplate |
dbt:Citation_needed dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Refimprove dbt:Reflist dbt:OMIM dbt:Carbohydrate_metabolic_pathology |
| dbp:wordnet_type |
http://www.w3.org/2006/03/wn/wn20/instances/synset-disease-noun-1 |
| dcterms:subject |
dbc:Autosomal_recessive_disorders dbc:Rare_diseases |
| rdf:type |
owl:Thing wikidata:Q12136 yago:WikicatAutosomalRecessiveDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:Disorder114052403 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 dbo:Disease yago:State100024720 umbel-rc:AilmentCondition |
| rdfs:comment |
نقص الجالاكتوز إبيميراس، المعروف أيضا باسم نقص غيل، غالاكتوسيميا الثالث ونقص أودب الجالاكتوز -4 إبيميراس، هو نادر، شكل متنحية مقهورة من الجالاكتوز في الدم يرتبط مع نقص في إبيميراس انزيم غالاكتوز. (ar) Galactose epimerase deficiency, also known as GALE deficiency, Galactosemia III and UDP-galactose-4-epimerase deficiency, is a rare, autosomal recessive form of galactosemia associated with a deficiency of the enzyme galactose epimerase. (en) |
| rdfs:label |
نقص الجالاكتوز إبيميراس (ar) Galactose epimerase deficiency (en) |
| owl:sameAs |
freebase:Galactose epimerase deficiency yago-res:Galactose epimerase deficiency http://www4.wiwiss.fu-berlin.de/diseasome/resource/diseases/431 wikidata:Galactose epimerase deficiency dbpedia-ar:Galactose epimerase deficiency https://global.dbpedia.org/id/gotE |
| prov:wasDerivedFrom |
wikipedia-en:Galactose_epimerase_deficiency?oldid=1048138932&ns=0 |
| foaf:depiction |
wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg wiki-commons:Special:FilePath/Complete_galactose_metabolism.png wiki-commons:Special:FilePath/UDP-glucose.png |
| foaf:isPrimaryTopicOf |
wikipedia-en:Galactose_epimerase_deficiency |
| foaf:name |
Galactose epimerase deficiency (en) |
| is dbo:wikiPageRedirects of |
dbr:Epimerase_deficiency |
| is dbo:wikiPageWikiLink of |
dbr:Epimerase_and_racemase dbr:List_of_disorders_included_in_newborn_screening_programs dbr:Galactosemia dbr:Duarte_galactosemia dbr:Galactose-1-phosphate_uridylyltransferase_deficiency dbr:List_of_OMIM_disorder_codes dbr:Epimerase_deficiency |
| is foaf:primaryTopic of |
wikipedia-en:Galactose_epimerase_deficiency |
