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Disease association ontology term - MONDO:0019214 - inborn carbohydrate metabolic disorder

Term summary

ID
MONDO:0019214
Name
inborn carbohydrate metabolic disorder
Ontology or CV name
Disease association
Definition
An inherited metabolic disease that is has its basis in the disruption of carbohydrate metabolic process.

Parents

Annotation

Disease association

MONDO:0019214 - inborn carbohydrate metabolic disorder

References:

Genes:

MONDO:0100255 - adenosine kinase deficiency

References:

Genes:

MONDO:0014648 - Al-Raqad syndrome

References:

Genes:

MONDO:0017779 - alpha-N-acetylgalactosaminidase deficiency

References:

Genes:

MONDO:0012221 - alpha-N-acetylgalactosaminidase deficiency type 1

References:

Genes:

MONDO:0012222 - alpha-N-acetylgalactosaminidase deficiency type 2

References:

Genes:

MONDO:0010480 - anemia, nonspherocytic hemolytic, due to G6PD deficiency

References:

Genes:

MONDO:0019502 - autosomal recessive non-syndromic intellectual disability

References:

Genes:

MONDO:0011534 - Charcot-Marie-Tooth disease type 4G

References:

Genes:

MONDO:0009258 - classic galactosemia

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Genes:

MONDO:0800044 - congenital disorder of deglycosylation 1

References:

Genes:

MONDO:0009114 - congenital sucrase-isomaltase deficiency

References:

Genes:

MONDO:0012803 - diarrhea-vomiting due to trehalase deficiency

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Genes:

MONDO:0002412 - disorder of glycogen metabolism

References:

Genes:

MONDO:0010027 - free sialic acid storage disease, infantile form

References:

Genes:

MONDO:0009251 - fructose-1,6-bisphosphatase deficiency

References:

Genes:

MONDO:0005775 - G6PD deficiency

References:

Genes:

MONDO:0009255 - galactokinase deficiency

References:

Genes:

MONDO:0009257 - galactose epimerase deficiency

References:

Genes:

MONDO:0018116 - galactosemia

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Genes:

MONDO:0009737 - galactosialidosis

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Genes:

MONDO:0017694 - glycogen storage disease due to acid maltase deficiency, infantile onset

References:

Genes:

MONDO:0018485 - glycogen storage disease due to acid maltase deficiency, late-onset

References:

Genes:

MONDO:0013587 - glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

References:

Genes:

MONDO:0013047 - glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

References:

Genes:

MONDO:0013046 - glycogen storage disease due to muscle beta-enolase deficiency

References:

Genes:

MONDO:0010392 - glycogen storage disease due to phosphoglycerate kinase 1 deficiency

References:

Genes:

MONDO:0009865 - glycogen storage disease due to phosphoglycerate mutase deficiency

References:

Genes:

MONDO:0009290 - glycogen storage disease II

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Genes:

MONDO:0009294 - glycogen storage disease VI

References:

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MONDO:0009295 - glycogen storage disease VII

References:

Genes:

MONDO:0013291 - glycogen storage disease XV

References:

Genes:

MONDO:0040500 - glycosylphosphatidylinositol biosynthesis defect 16

References:

Genes:

MONDO:0013275 - hemolytic anemia due to glucophosphate isomerase deficiency

References:

Genes:

MONDO:0009666 - holocarboxylase synthetase deficiency

References:

Genes:

MONDO:0005803 - hyperinsulinemic hypoglycemia

References:

Genes:

MONDO:0011236 - hyperinsulinemic hypoglycemia, familial, 3

References:

Genes:

MONDO:0859362 - hyperinsulinemic hypoglycemia, familial, 8

References:

Genes:

MONDO:0011717 - hyperinsulinism-hyperammonemia syndrome

References:

Genes:

MONDO:0032662 - intellectual developmental disorder, autosomal recessive 67

References:

Genes:

MONDO:0032665 - intellectual developmental disorder, autosomal recessive 68

References:

Genes:

MONDO:0032789 - intellectual developmental disorder, autosomal recessive 71

References:

Genes:

MONDO:0030533 - intellectual developmental disorder, autosomal recessive 73

References:

Genes:

MONDO:0957288 - intellectual developmental disorder, autosomal recessive 79

References:

Genes:

MONDO:0958204 - intellectual developmental disorder, autosomal recessive 81

References:

Genes:

MONDO:0013173 - intellectual disability, autosomal recessive 13

References:

Genes:

MONDO:0013528 - intellectual disability, autosomal recessive 14

References:

Genes:

MONDO:0014348 - intellectual disability, autosomal recessive 42

References:

Genes:

MONDO:0014409 - intellectual disability, autosomal recessive 44

References:

Genes:

MONDO:0012613 - intellectual disability, autosomal recessive 5

References:

Genes:

MONDO:0014649 - intellectual disability, autosomal recessive 50

References:

Genes:

MONDO:0014815 - intellectual disability, autosomal recessive 52

References:

Genes:

MONDO:0014930 - intellectual disability, autosomal recessive 56

References:

Genes:

MONDO:0014996 - intellectual disability, autosomal recessive 58

References:

Genes:

MONDO:0015020 - intellectual disability, autosomal recessive 59

References:

Genes:

MONDO:0044313 - intellectual disability, autosomal recessive 60

References:

Genes:

MONDO:0020850 - intellectual disability, autosomal recessive 65

References:

Genes:

MONDO:0012615 - intellectual disability, autosomal recessive 7

References:

Genes:

MONDO:0006065 - lactose intolerance adult type

References:

Genes:

MONDO:0009867 - lethal congenital glycogen storage disease of heart

References:

Genes:

MONDO:0013762 - lipoic acid synthetase deficiency

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Genes:

MONDO:0018911 - maturity-onset diabetes of the young

References:

Genes:

MONDO:0014674 - maturity-onset diabetes of the young type 14

References:

Genes:

MONDO:0007453 - maturity-onset diabetes of the young type 2

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MONDO:0001586 - mucopolysaccharidosis type 1

References:

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MONDO:0018938 - mucopolysaccharidosis type 4

References:

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MONDO:0009661 - mucopolysaccharidosis type 6

References:

Genes:

MONDO:0015454 - multiple carboxylase deficiency

References:

Genes:

MONDO:0009340 - non-spherocytic hemolytic anemia due to hexokinase deficiency

References:

Genes:

MONDO:0009846 - pentosuria

References:

Genes:

MONDO:0100165 - permanent neonatal diabetes mellitus 1

References:

Genes:

MONDO:0014526 - polyglucosan body myopathy type 2

References:

Genes:

MONDO:0016396 - pontocerebellar hypoplasia type 1

References:

Genes:

MONDO:0013853 - pontocerebellar hypoplasia type 1B

References:

Genes:

MONDO:0014485 - pontocerebellar hypoplasia, type 1C

References:

Genes:

MONDO:0002474 - primary hyperoxaluria

References:

Genes:

MONDO:0009824 - primary hyperoxaluria type 2

References:

Genes:

MONDO:0009949 - pyruvate carboxylase deficiency disease

References:

Genes:

MONDO:0019169 - pyruvate dehydrogenase deficiency

References:

Genes:

MONDO:0010717 - pyruvate dehydrogenase E1-alpha deficiency

References:

Genes:

MONDO:0013580 - pyruvate dehydrogenase E1-beta deficiency

References:

Genes:

MONDO:0009502 - pyruvate dehydrogenase E2 deficiency

References:

Genes:

MONDO:0009529 - pyruvate dehydrogenase E3 deficiency

References:

Genes:

MONDO:0009503 - pyruvate dehydrogenase E3-binding protein deficiency

References:

Genes:

MONDO:0012120 - pyruvate dehydrogenase phosphatase deficiency

References:

Genes:

MONDO:0009950 - pyruvate kinase deficiency of red cells

References:

Genes:

MONDO:0013624 - Rafiq syndrome

References:

Genes:

MONDO:0012073 - ribose-5-P isomerase deficiency

References:

Genes:

MONDO:0011449 - Salla disease

References:

Genes:

MONDO:0011624 - transaldolase deficiency

References:

Genes:

MONDO:0014881 - transketolase deficiency

References:

Genes:

MONDO:0014221 - triosephosphate isomerase deficiency

References:

Genes: