GGDonto: Genetic Glyco-Diseases Ontology
Legend:
Concept Types
target (clinical findings)
classification term
pathway-based classification term
clinical findings
multiple types disease
single disease
disease type
'Feeding and Eating Disorders of Childhood'
Congenital, Hereditary, and Neonatal Diseases and Abnormalities related to Glycans
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
(synthesis)
Hereditary disorders by systems
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Psychiatry and Psychology
Mental Disorders
Mental Disorders Diagnosed in Childhood
Feeding and Eating Disorders of Childhood
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, infantile multisystem stage
[PMM2]
MPDU1-CDG
(GDGDB)
[MPDU1]
ALG12-CDG
(GDGDB)
[ALG12]
ALG8-CDG
(GDGDB)
[ALG8]
DPAGT1-CDG
(GDGDB)
[DPAGT1]
RFT1-CDG
[RFT1]
MGAT2-CDG
(GDGDB)
[MGAT2]
GCS1-CDG
(GDGDB)
[GCS1]
COG7-CDG
(GDGDB)
[COG7]
COG1-CDG
[COG1]
COG4-CDG
[COG4]
ATP6VOA2-CDG
[ATP6V0A2]
Muscular dystrophy, congenital, type 1C
(GDGDB)
[FKRP]
B3GALTL-CDG
[B3GALTL]
ST3GAL5-CDG
[SIAT9]
ALG11-CDG
[ALG11]
ALG13-CDG
[ALG13]
Lysosomal Storage Diseases
(degradation)
Hereditary disorders by systems
Genetic disorders of glycan degradation (by systems, signs and symptoms)
Psychiatry and Psychology
Mental Disorders
Mental Disorders Diagnosed in Childhood
Feeding and Eating Disorders of Childhood
Krabbe disease
(GDGDB)
[GALC]
Krabbe disease, infantile form
[GALC]
Metachromatic leukodystrophy
(GDGDB)
[ARSA]
Metachromatic leukodystrophy, infantile form
[ARSA]
Niemann-Pick disease, type A
(GDGDB)
[SMPD1]
Niemann-Pick disease, type C1
(GDGDB)
[NPC1]
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Combined saposin deficiency
(GDGDB)
[PSAP]
Pompe disease
(GDGDB)
[GAA]
Pompe disease, infantile-onset form
[GAA]
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