About: Inborn errors of metabolism

Property	Value
dbo:description	질병의 종류 (ko) Krankheit (de) хвороба (uk) large classe de maladies génétiques impliquant des troubles du métabolisme (fr) clase de enfermedades metabólicas (es) genetik hastalıklar grubu (tr) genetycznie uwarunkowane choroby metaboliczne (pl) class of disease including endocrine diseases, nutritional diseases and metabolic diseases (en) ampia classe di malattie genetiche che implicano difetti metabolici (it) أخطاء استقلابية خلقية (ar)
dbo:eMedicineSubject	emerg (en)
dbo:eMedicineTopic	768 (en)
dbo:icd10	- E70. E90.
dbo:icd9	- 270 279
dbo:medlinePlus	002438
dbo:meshId	D008661
dbo:thumbnail	wiki-commons:Special:FilePath/GCMS_closed.jpg?width=300
dbo:wikiPageWikiLink	dbr:Blood_plasma dbr:Encephalopathy dbr:Pyrimidine dbr:Hepatomegaly dbr:Immunodeficiency dbr:Liver_failure dbr:Maple_syrup_urine_disease dbr:Intersex dbr:Diagnostic_test dbr:Brain dbr:Mass_spectrometry dbr:Respiratory_failure dbr:Alglucosidase_alfa dbr:Abdominal_pain dbr:Amino_acid dbr:Anemia dbr:Biopsy dbr:British_Columbia dbr:Cancer dbr:Diarrhea dbr:Enzyme dbr:Gene dbr:Jaundice dbr:Liver dbr:Lymphadenopathy dbr:Muscle dbr:Myocardial_infarction dbr:Rash dbr:Alkaptonuria dbr:Edema dbr:Vomiting dbr:Carbohydrate dbr:Deafness dbr:Dementia dbr:Hypertension dbr:Hypoglycemia dbr:Hypothyroidism dbr:Psychosis dbr:Seizure dbr:Stroke dbr:Heart_failure dbr:Paper_chromatography dbr:Purine dbr:Hypotension dbr:Lysosomal_storage_disease dbr:Gas_chromatography–mass_spectrometry dbr:Gaucher's_disease dbr:Glycogen_storage_disease dbr:Niemann–Pick_disease dbr:Product_(chemistry) dbr:Lesch–Nyhan_syndrome dbr:Ion_chromatography dbr:Archibald_Garrod dbr:Dehydration dbr:Kidney_failure dbr:Urine dbr:Hyperventilation dbr:Hypogonadism dbr:Splenomegaly dbr:Galactosemia dbr:Polyuria dbr:Precocious_puberty dbr:Congenital_adrenal_hyperplasia dbr:Mitochondrial_disease dbr:Nitisinone dbr:Blindness dbr:Bone_marrow dbr:Thiamine dbr:Gene_therapy dbr:Acute_intermittent_porphyria dbr:Ninhydrin dbr:Organic_acid dbr:Porphyrin dbr:Tyrosinemia_type_I dbr:Cardiomegaly dbr:Tyrosinemia dbr:Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency dbr:Congenital dbr:Lipoid_congenital_adrenal_hyperplasia dbr:Newborn_screening dbr:Phenylketonuria dbr:Zellweger_syndrome dbr:Thrombocytopenia dbr:Peroxisomal_disorder dbr:Carbamoyl_phosphate_synthetase_I_deficiency dbr:Adrenal_insufficiency dbr:Glucose-6-phosphate_dehydrogenase_deficiency dbr:Inborn_errors_of_steroid_metabolism dbr:Combined_malonic_and_methylmalonic_aciduria dbr:Kearns–Sayre_syndrome dbr:Delayed_puberty dbr:Lactic_acidosis dbr:2-Hydroxyglutaric_aciduria dbr:Inborn_errors_of_carbohydrate_metabolism dbr:Ferric_chloride_test dbr:Hirsutism dbc:Metabolism dbc:Medical_genetics dbc:Inborn_errors_of_metabolism dbr:Developmental_delay dbr:Low-protein_diet dbr:Pigmentation dbr:ADHD dbr:Diabetes_mellitus dbr:Clinical_depression dbr:Pompe_disease dbr:Substrate_(biochemistry) dbr:Guthrie_test dbr:Biochemical_Processes dbr:DNA_testing dbr:Amino_acids dbr:Acylcarnitine dbr:"one_gene-one_enzyme"_hypothesis dbr:Growth_failure dbr:Mitochondrial dbr:Peroxisomal dbr:Pain_agnosia dbr:Glutaric_acidemia_type_1 dbr:Congenital_malformation dbr:Genetic_disease dbr:Lysosomal_storage_disorder dbr:Organic_aciduria dbr:List_of_amino_acid_metabolism_disorders dbr:List_of_fatty_acid_metabolism_disorders dbr:Single_gene_disorders dbr:File:GCMS_closed.jpg dbr:Amino_acid_disorder
dbp:emedicinesubj	emerg (en)
dbp:emedicinetopic	768 (xsd:integer)
dbp:icd	270 (xsd:integer) 279 (xsd:integer) (en) - (en) -, (en) E70. (en) E90. (en)
dbp:medlineplus	2438 (xsd:integer)
dbp:meshid	D008661 (en)
dbp:wikiPageUsesTemplate	dbt:Amino_acid_metabolic_pathology dbt:Fatty-acid_metabolism_disorders dbt:Inborn_errors_of_purine-pyrimidine_metabolism dbt:Cite_book dbt:Cite_journal dbt:Cn dbt:Columns-list dbt:EMedicine2 dbt:ICD11 dbt:Medical_resources dbt:Reflist dbt:See_also dbt:Short_description dbt:Carbohydrate_metabolic_pathology dbt:Metabolic_disorders_of_vitamins,_coenzymes,_and_cofactors dbt:Lipid_metabolism_disorders dbt:Heme_metabolism_disorders dbt:Defects_of_steroid_metabolism
dct:subject	dbc:Metabolism dbc:Medical_genetics dbc:Inborn_errors_of_metabolism
rdf:type	owl:Thing wikidata:Q12136 dbo:Disease dbo:Disease dbo:Disease
rdfs:label	Stofwisselingsziekte (nl) Inborn errors of metabolism (en) خطأ أيضي خلقي (ar) Vrozená metabolická porucha (cs) Denaska metabola malsano (eo) Gaixotasun metaboliko (eu) Enzymdefekt (de) Error congénito del metabolismo (es) Maladie métabolique génétique (fr) Earráid dhúchasach mheitibileachta (ga) Errore congenito del metabolismo (it) 先天性代謝異常症 (ja) 선천성 대사 이상 (ko) Erro metabólico hereditário (pt) Wrodzone błędy metabolizmu (pl) Наследственные болезни обмена веществ (ru) 遗传性代谢缺陷 (zh)
rdfs:seeAlso	dbr:Metabolic_disorder
owl:sameAs	wikidata:Inborn errors of metabolism dbpedia-de:Inborn errors of metabolism dbpedia-es:Inborn errors of metabolism dbpedia-it:Inborn errors of metabolism dbpedia-nl:Inborn errors of metabolism dbpedia-pl:Inborn errors of metabolism dbpedia-tr:Inborn errors of metabolism dbpedia-fr:Inborn errors of metabolism dbpedia-ja:Inborn errors of metabolism dbpedia-pt:Inborn errors of metabolism dbpedia-ru:Inborn errors of metabolism dbpedia-zh:Inborn errors of metabolism dbpedia-vi:Inborn errors of metabolism dbpedia-ko:Inborn errors of metabolism dbpedia-ar:Inborn errors of metabolism dbpedia-bs:Inborn errors of metabolism dbpedia-cs:Inborn errors of metabolism dbpedia-eo:Inborn errors of metabolism dbpedia-eu:Inborn errors of metabolism dbpedia-fa:Inborn errors of metabolism dbpedia-ga:Inborn errors of metabolism dbpedia-hi:Inborn errors of metabolism dbpedia-lt:Inborn errors of metabolism dbpedia-ms:Inborn errors of metabolism dbpedia-sr:Inborn errors of metabolism dbpedia-th:Inborn errors of metabolism dbpedia-global:Inborn errors of metabolism
prov:wasDerivedFrom	wikipedia-en:Inborn_errors_of_metabolism?oldid=1305683405&ns=0
foaf:depiction	wiki-commons:Special:FilePath/GCMS_closed.jpg
foaf:isPrimaryTopicOf	wikipedia-en:Inborn_errors_of_metabolism
is dbo:knownFor of	dbr:Charles_Scriver
is dbo:wikiPageRedirects of	dbr:Inborn_errors_of_metal_metabolism dbr:Inborn_error_of_metabolism dbr:Inborn_error_of_metabolism dbr:Metabolic_Diseases dbr:Metabolic_defect dbr:Metabolic_deficiencies dbr:Metabolism,_inborn_error dbr:Metabolism,_inborn_errors dbr:Metabolistic_disease dbr:Congenital_metabolic_disease dbr:Enzyme_deficiency dbr:Enzymopathy dbr:Errors_of_metabolism dbr:Inborn_amino_acid_metabolism_disorder dbr:Inborn_metabolic_disorder dbr:Inherited_biochemical_defects dbr:Inherited_metabolic_diseases dbr:Storage_disease dbr:Storage_disorder
is dbo:wikiPageWikiLink of	dbr:Garrod's_tetrad dbr:Altered_level_of_consciousness dbr:James_E._Bowman dbr:Pipecolic_acidemia dbr:Maleylacetoacetate_isomerase dbr:COVID-19_vaccination_in_the_Republic_of_Ireland dbr:Methylmalonyl-CoA_mutase_deficiency dbr:Cat dbr:Genetic_disorder dbr:Medical_genetics dbr:Charles_Scriver dbr:Glycine_encephalopathy dbr:Purine_nucleoside_phosphorylase_deficiency dbr:Mechanism_of_autism dbr:Urine_test dbr:Attention_deficit_hyperactivity_disorder dbr:Neonatology dbr:BB_Biotech dbr:Autism_spectrum dbr:Hypotonia dbr:Hypoglycemia dbr:Goitre dbr:Gas_chromatography–mass_spectrometry dbr:Deficiency_(medicine) dbr:Coarse_facial_features dbr:Hypervalinemia dbr:Merton_F._Utter dbr:Urinalysis dbr:D-Glyceric_acidemia dbr:Andrea_Superti-Furga dbr:Birth_defect dbr:Fatty_acid_metabolism dbr:Tay–Sachs_disease dbr:Failure_to_thrive dbr:Glycogen dbr:Gastric_outlet_obstruction dbr:Triosephosphate_isomerase_deficiency dbr:Ketotic_hypoglycemia dbr:Carnosinemia dbr:Ralph_DeBerardinis dbr:Lysosome dbr:Reye_syndrome dbr:Congenital_disorder_of_glycosylation dbr:Succinic_semialdehyde_dehydrogenase_deficiency dbr:Sarcosinemia dbr:High_anion_gap_metabolic_acidosis dbr:Ornithine_translocase_deficiency dbr:Metab-L dbr:Urocanic_aciduria dbr:Neonatal_seizure dbr:Inborn_error_of_lipid_metabolism dbr:Combined_malonic_and_methylmalonic_aciduria dbr:Charles_Enrique_Dent dbr:Gunther_disease dbr:2-Methylbutyryl-CoA_dehydrogenase_deficiency dbr:Galactokinase_deficiency dbr:Galactose-1-phosphate_uridylyltransferase_deficiency dbr:List_of_ICD-9_codes_240–279:_endocrine...olic_diseases,_and_immunity_disorders dbr:Cystinuria dbr:Hyperammonemia dbr:Arnold_Peter_Meiklejohn dbr:Inborn_errors_of_metal_metabolism dbr:Joseph_D._Schulman dbr:Pronator_drift dbr:Joseph_Dancis dbr:Inborn_error_of_metabolism dbr:Metabolic_Diseases dbr:Metabolic_defect dbr:Metabolic_deficiencies dbr:Metabolism,_inborn_error dbr:Metabolism,_inborn_errors dbr:Metabolistic_disease dbr:Congenital_metabolic_disease dbr:Enzyme_deficiency dbr:Enzymopathy dbr:Errors_of_metabolism dbr:Inborn_amino_acid_metabolism_disorder dbr:Inborn_metabolic_disorder dbr:Inherited_biochemical_defects dbr:Inherited_metabolic_diseases dbr:Storage_disease dbr:Storage_disorder
is dbp:knownFor of	dbr:Charles_Scriver
is rdfs:seeAlso of	dbr:Metabolic_disorder
is foaf:primaryTopic of	wikipedia-en:Inborn_errors_of_metabolism