| dbo:abstract |
Arakawa's syndrome II is an autosomal dominant metabolic disorder that causes a deficiency of the enzyme tetrahydrofolate-methyltransferase; affected individuals cannot properly metabolize methylcobalamin, a type of Vitamin B12. (en) Niedobór syntazy metioninowej, niedobór metylotransferazy homocysteinowej, zespół Arakawy II (ang. methionine synthase deficiency, tetrahydrofolate-methyltransferase deficiency syndrome, N5-methylhomocysteine transferase deficiency, Arakawa syndrome II) to genetycznie uwarunkowana choroba metaboliczna wynikająca z niedoboru enzymu metylotransferazy homocysteinowej. Dotknięte nią osoby nie mogą właściwie metabolizować metylokobalaminy, jednej z postaci witaminy B12. (pl) Синдром Аракава II (англ. Arakawa's syndrome II; також англ. Methionine synthase deficiency, Tetrahydrofolate-methyltransferase deficiency syndrome, N5-methylhomocysteine transferase deficiency, синдром дефіциту метіонінсинтази, синдром дефіциту тетрагідрофолатметилтрансферази, синдром дефіциту N5-метилгомоцистеїнтрансферази) — клінічний синдром, аутосомно-домінантне порушення обміну речовин, яке спричинює дефіцит ферменту тетрагідрофолатметилтрансферази. (uk) |
| dbo:diseasesDB |
32787 |
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156570 (xsd:integer) |
| dbo:thumbnail |
wiki-commons:Special:FilePath/Mecobalamin.svg?width=300 |
| dbo:wikiPageID |
4211737 (xsd:integer) |
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3239 (xsd:nonNegativeInteger) |
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| dbo:wikiPageWikiLink |
dbr:Scoliosis dbr:Epilepsy dbr:Methionine_synthase dbr:Delayed_milestone dbr:Megaloblastic_anemia dbr:Ventricular_system dbr:Myoclonus dbr:Pectus_excavatum dbc:Vitamin,_coenzyme,_and_cofactor_metabolism_disorders dbr:Cyanocobalamin dbr:Diarrhea dbr:Vomiting dbc:Syndromes_affecting_the_nervous_system dbc:Syndromes_with_intellectual_disability dbr:Hepatosplenomegaly dbr:Atrophy dbr:Hypotonia dbc:Syndromes_affecting_blood dbc:Autosomal_dominant_disorders dbr:Dominance_(genetics) dbr:Autosome dbr:Inborn_error_of_metabolism dbr:Intellectual_disability dbr:Methylcobalamin dbr:Neurology dbr:Tetrahydrofolate-methyltransferase dbr:Glutamate_formiminotransferase dbr:File:Autosomal_dominant_-_en.svg |
| dbp:caption |
dbr:Methylcobalamin |
| dbp:diseasesdb |
32787 (xsd:integer) |
| dbp:name |
Arakawa's syndrome II (en) |
| dbp:omim |
156570 (xsd:integer) |
| dbp:synonyms |
Methionine synthase deficiency, Tetrahydrofolate-methyltransferase deficiency syndrome, and N5-methylhomocysteine transferase deficiency. (en) |
| dbp:wikiPageUsesTemplate |
dbt:Citation_needed dbt:Clear dbt:Cn dbt:Empty_section dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:RareDiseases |
| dbp:wordnet_type |
http://www.w3.org/2006/03/wn/wn20/instances/synset-disease-noun-1 |
| dct:subject |
dbc:Vitamin,_coenzyme,_and_cofactor_metabolism_disorders dbc:Syndromes_affecting_the_nervous_system dbc:Syndromes_with_intellectual_disability dbc:Syndromes_affecting_blood dbc:Autosomal_dominant_disorders |
| gold:hypernym |
dbr:Disorder |
| rdf:type |
owl:Thing wikidata:Q12136 yago:WikicatAutosomalDominantDisorders yago:WikicatMetabolicDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:AutosomalDominantDisease114162025 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Disease114070360 yago:Disorder114052403 yago:GeneticDisease114151139 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:MetabolicDisorder114084502 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 yago:WikicatGeneticDisorders dbo:Disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes umbel-rc:AilmentCondition |
| rdfs:comment |
Arakawa's syndrome II is an autosomal dominant metabolic disorder that causes a deficiency of the enzyme tetrahydrofolate-methyltransferase; affected individuals cannot properly metabolize methylcobalamin, a type of Vitamin B12. (en) Niedobór syntazy metioninowej, niedobór metylotransferazy homocysteinowej, zespół Arakawy II (ang. methionine synthase deficiency, tetrahydrofolate-methyltransferase deficiency syndrome, N5-methylhomocysteine transferase deficiency, Arakawa syndrome II) to genetycznie uwarunkowana choroba metaboliczna wynikająca z niedoboru enzymu metylotransferazy homocysteinowej. Dotknięte nią osoby nie mogą właściwie metabolizować metylokobalaminy, jednej z postaci witaminy B12. (pl) Синдром Аракава II (англ. Arakawa's syndrome II; також англ. Methionine synthase deficiency, Tetrahydrofolate-methyltransferase deficiency syndrome, N5-methylhomocysteine transferase deficiency, синдром дефіциту метіонінсинтази, синдром дефіциту тетрагідрофолатметилтрансферази, синдром дефіциту N5-метилгомоцистеїнтрансферази) — клінічний синдром, аутосомно-домінантне порушення обміну речовин, яке спричинює дефіцит ферменту тетрагідрофолатметилтрансферази. (uk) |
| rdfs:label |
Arakawa's syndrome II (en) Niedobór syntazy metioninowej (pl) Синдром Аракава II (uk) |
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freebase:Arakawa's syndrome II yago-res:Arakawa's syndrome II wikidata:Arakawa's syndrome II dbpedia-pl:Arakawa's syndrome II dbpedia-uk:Arakawa's syndrome II https://global.dbpedia.org/id/4RJCD |
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wikipedia-en:Arakawa's_syndrome_II?oldid=1061928871&ns=0 |
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wiki-commons:Special:FilePath/Autosomal_dominant_-_en.svg wiki-commons:Special:FilePath/Mecobalamin.svg |
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wikipedia-en:Arakawa's_syndrome_II |
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Arakawa's syndrome II (en) |
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dbr:Arakawa |
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dbr:Methionine_synthase_deficiency dbr:Tetrahydrofolate-methyltransferase_deficiency_syndrome dbr:Arakawa's_syndrome_2 dbr:Arakawa'sa_syndrome_II dbr:N5-methylhomocysteine_transferase_deficiency |
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dbr:List_of_diseases_(A) dbr:Methionine_synthase dbr:Arakawa dbr:Methionine_synthase_deficiency dbr:List_of_syndromes dbr:Tetrahydrofolate-methyltransferase_deficiency_syndrome dbr:Arakawa's_syndrome_2 dbr:Arakawa'sa_syndrome_II dbr:N5-methylhomocysteine_transferase_deficiency |
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