http://dbpedia.org/ontology/abstract
|
Aldolase A deficiency is an autosomal rece … Aldolase A deficiency is an autosomal recessive metabolic disorder resulting in a deficiency of the enzyme aldolase A; the enzyme is found predominantly in red blood cells and muscle tissue. The deficiency may lead to hemolytic anaemia as well as myopathy associated with exercise intolerance and rhabdomyolysis in some cases.olerance and rhabdomyolysis in some cases.
|
http://dbpedia.org/ontology/diseasesDB
|
29873
|
http://dbpedia.org/ontology/icd10
|
E74.1
|
http://dbpedia.org/ontology/omim
|
611881
|
http://dbpedia.org/ontology/orpha
|
57
|
http://dbpedia.org/ontology/thumbnail
|
http://commons.wikimedia.org/wiki/Special:FilePath/autorecessive.svg?width=300 +
|
http://dbpedia.org/ontology/wikiPageID
|
10259982
|
http://dbpedia.org/ontology/wikiPageLength
|
15320
|
http://dbpedia.org/ontology/wikiPageRevisionID
|
1114699961
|
http://dbpedia.org/ontology/wikiPageWikiLink
|
http://dbpedia.org/resource/Tyrosine +
, http://dbpedia.org/resource/Category:Autosomal_recessive_disorders +
, http://dbpedia.org/resource/Aldolase_C +
, http://dbpedia.org/resource/Template:2%2C3-Bisphosphoglycerate_synthesis +
, http://dbpedia.org/resource/File:Hemoglobin_degredation_to_bilirubin.png +
, http://dbpedia.org/resource/Glycogen +
, http://dbpedia.org/resource/Missense_mutation +
, http://dbpedia.org/resource/Myopathy +
, http://dbpedia.org/resource/Red_blood_cell +
, http://dbpedia.org/resource/Adenosine_triphosphate +
, http://dbpedia.org/resource/Jaundice +
, http://dbpedia.org/resource/Metabolic_disorder +
, http://dbpedia.org/resource/Hemolytic_anaemia +
, http://dbpedia.org/resource/Pyropoikilocytosis +
, http://dbpedia.org/resource/Hepatomegaly +
, http://dbpedia.org/resource/Hyperkalemia +
, http://dbpedia.org/resource/Bilirubin +
, http://dbpedia.org/resource/Infection +
, http://dbpedia.org/resource/Cysteine +
, http://dbpedia.org/resource/Enzyme +
, http://dbpedia.org/resource/Consanguinity +
, http://dbpedia.org/resource/Elliptocytosis +
, http://dbpedia.org/resource/Dominance_%28genetics%29 +
, http://dbpedia.org/resource/Lysine +
, http://dbpedia.org/resource/Muscle +
, http://dbpedia.org/resource/Hemolytic_anemia +
, http://dbpedia.org/resource/2%2C3-diphosphoglycerate +
, http://dbpedia.org/resource/Nonsense_mutation +
, http://dbpedia.org/resource/Rhabdomyolysis +
, http://dbpedia.org/resource/Nicotinamide_adenine_dinucleotide_phosphate +
, http://dbpedia.org/resource/Leukocyte +
, http://dbpedia.org/resource/Inheritance +
, http://dbpedia.org/resource/Hereditary_pyropoikilocytosis +
, http://dbpedia.org/resource/Glycine +
, http://dbpedia.org/resource/Isoelectric_focusing +
, http://dbpedia.org/resource/Lysis +
, http://dbpedia.org/resource/Arginine +
, http://dbpedia.org/resource/Glucose-6-phosphate_dehydrogenase +
, http://dbpedia.org/resource/Electrophoresis +
, http://dbpedia.org/resource/Category:Inborn_errors_of_carbohydrate_metabolism +
, http://dbpedia.org/resource/Aldolase_A +
, http://dbpedia.org/resource/Splenomegaly +
, http://dbpedia.org/resource/Category:Red_blood_cell_disorders +
, http://dbpedia.org/resource/Hyperbilirubinemia +
, http://dbpedia.org/resource/Aspartic_acid +
, http://dbpedia.org/resource/Homeostasis +
, http://dbpedia.org/resource/Glycogen_storage_disease +
, http://dbpedia.org/resource/Fructose-1%2C6-bisphosphate +
, http://dbpedia.org/resource/Hereditary_elliptocytosis +
, http://dbpedia.org/resource/Creatine_phosphate +
, http://dbpedia.org/resource/Category:Rare_diseases +
, http://dbpedia.org/resource/Neonatal +
, http://dbpedia.org/resource/Dysmorphic_feature +
, http://dbpedia.org/resource/Liver +
, http://dbpedia.org/resource/Pentose_phosphate_pathway +
, http://dbpedia.org/resource/Lactic_acid_fermentation +
, http://dbpedia.org/resource/Fever +
, http://dbpedia.org/resource/Glutamic_acid +
, http://dbpedia.org/resource/Enzyme_kinetics +
|
http://dbpedia.org/property/caption
|
Aldolase A deficiency has an autosomal recessive pattern of inheritance
|
http://dbpedia.org/property/diseasesdb
|
29873
|
http://dbpedia.org/property/icd
|
E74.1
|
http://dbpedia.org/property/name
|
Aldolase A deficiency
|
http://dbpedia.org/property/omim
|
611881
|
http://dbpedia.org/property/orphanet
|
57
|
http://dbpedia.org/property/synonyms
|
ALDOA deficiency, Red cell aldolase deficiency, or Glycogen storage disease type 12
|
http://dbpedia.org/property/wikiPageUsesTemplate
|
http://dbpedia.org/resource/Template:Infobox_medical_condition_%28new%29 +
, http://dbpedia.org/resource/Template:2%2C3-Bisphosphoglycerate_synthesis +
, http://dbpedia.org/resource/Template:Citation_needed +
, http://dbpedia.org/resource/Template:Reflist +
, http://dbpedia.org/resource/Template:Medical_resources +
, http://dbpedia.org/resource/Template:Empty_section +
, http://dbpedia.org/resource/Template:Commonscatinline +
, http://dbpedia.org/resource/Template:Inborn_errors_of_carbohydrate_metabolism +
|
http://dbpedia.org/property/wordnet type
|
http://www.w3.org/2006/03/wn/wn20/instances/synset-disease-noun-1 +
|
http://purl.org/dc/terms/subject
|
http://dbpedia.org/resource/Category:Red_blood_cell_disorders +
, http://dbpedia.org/resource/Category:Autosomal_recessive_disorders +
, http://dbpedia.org/resource/Category:Inborn_errors_of_carbohydrate_metabolism +
, http://dbpedia.org/resource/Category:Rare_diseases +
|
http://purl.org/linguistics/gold/hypernym
|
http://dbpedia.org/resource/Disorder +
|
http://www.w3.org/ns/prov#wasDerivedFrom
|
http://en.wikipedia.org/wiki/Aldolase_A_deficiency?oldid=1114699961&ns=0 +
|
http://xmlns.com/foaf/0.1/depiction
|
http://commons.wikimedia.org/wiki/Special:FilePath/autorecessive.svg +
, http://commons.wikimedia.org/wiki/Special:FilePath/Hemoglobin_degredation_to_bilirubin.png +
|
http://xmlns.com/foaf/0.1/isPrimaryTopicOf
|
http://en.wikipedia.org/wiki/Aldolase_A_deficiency +
|
http://xmlns.com/foaf/0.1/name
|
Aldolase A deficiency
|
owl:sameAs |
http://rdf.freebase.com/ns/m.02q6rz8 +
, http://www.wikidata.org/entity/Q4713937 +
, http://www4.wiwiss.fu-berlin.de/diseasome/resource/diseases/1380 +
, http://dbpedia.org/resource/Aldolase_A_deficiency +
, https://global.dbpedia.org/id/4Mscn +
, http://www4.wiwiss.fu-berlin.de/diseasome/resource/diseases/56 +
, http://yago-knowledge.org/resource/Aldolase_A_deficiency +
|
rdf:type |
http://dbpedia.org/class/yago/WikicatRedBloodCellDisorders +
, http://dbpedia.org/class/yago/PsychologicalFeature100023100 +
, http://dbpedia.org/class/yago/Act100030358 +
, http://dbpedia.org/class/yago/Disease114070360 +
, http://dbpedia.org/class/yago/Abstraction100002137 +
, http://dbpedia.org/class/yago/PhysicalCondition114034177 +
, http://dbpedia.org/class/yago/Nonaccomplishment100066216 +
, http://dbpedia.org/class/yago/Condition113920835 +
, http://dbpedia.org/class/yago/Attribute100024264 +
, http://dbpedia.org/class/yago/State100024720 +
, http://dbpedia.org/class/yago/Mistake100070965 +
, http://dbpedia.org/class/yago/YagoPermanentlyLocatedEntity +
, http://dbpedia.org/class/yago/PathologicalState114051917 +
, http://dbpedia.org/class/yago/IllHealth114052046 +
, http://dbpedia.org/ontology/Disease +
, http://dbpedia.org/class/yago/Disorder114052403 +
, http://dbpedia.org/class/yago/Event100029378 +
, http://dbpedia.org/class/yago/WikicatInbornErrorsOfCarbohydrateMetabolism +
, http://dbpedia.org/class/yago/Illness114061805 +
, http://dbpedia.org/class/yago/WikicatAutosomalRecessiveDisorders +
, http://www.wikidata.org/entity/Q12136 +
, http://umbel.org/umbel/rc/AilmentCondition +
|
rdfs:comment |
Aldolase A deficiency is an autosomal rece … Aldolase A deficiency is an autosomal recessive metabolic disorder resulting in a deficiency of the enzyme aldolase A; the enzyme is found predominantly in red blood cells and muscle tissue. The deficiency may lead to hemolytic anaemia as well as myopathy associated with exercise intolerance and rhabdomyolysis in some cases.olerance and rhabdomyolysis in some cases.
|
rdfs:label |
Aldolase A deficiency
|