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
'Respiration Disorders'
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)
Diseases
Respiratory Tract Diseases
Respiration Disorders
Apnea
GCS1-CDG
(GDGDB)
[GCS1]
Dyspnea
ALG8-CDG
(GDGDB)
[ALG8]
PGM1-CDG
[PGM1]
Respiratory Insufficiency
Hypoventilation
GCS1-CDG
(GDGDB)
[GCS1]
DPAGT1-CDG
(GDGDB)
[DPAGT1]
ALG1-CDG
(GDGDB)
[ALG1]
GCS1-CDG
(GDGDB)
[GCS1]
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Muscular dystrophy, congenital, type 1C
(GDGDB)
[FKRP]
Muscular dystrophy, limb-girdle, type 2I
(GDGDB)
[FKRP]
Diastrophic dysplasia
[SLC26A2]
Achondrogenesis type IB
[SLC26A2]
Neonatal osseous dysplasia I
[SLC26A2]
MPDU1-CDG
(GDGDB)
[MPDU1]
DPAGT1-CDG
(GDGDB)
[DPAGT1]
Lysosomal Storage Diseases
(degradation)
Hereditary disorders by systems
Genetic disorders of glycan degradation (by systems, signs and symptoms)
Diseases
Respiratory Tract Diseases
Respiration Disorders
Apnea
Sleep Apnea Syndromes
Sleep Apnea, Obstructive
Hurler syndrome
(GDGDB)
[IDUA]
Hurler-Scheie syndrome
(GDGDB)
[IDUA]
Scheie syndrome
(GDGDB)
[IDUA]
Mucopolysaccharidosis II
(GDGDB)
[IDS]
Morquio syndrome A
(GDGDB)
[GALNS]
Morquio syndrome B
(GDGDB)
[GLB1]
Mucopolysaccharidosis VI
(GDGDB)
(GDGDB)
[ARSB]
Mucopolysaccharidosis VII
(GDGDB)
[GUSB]
Dyspnea
Gaucher disease, type II
(GDGDB)
[GBA]
Krabbe disease
(GDGDB)
[GALC]
Krabbe disease, infantile form
[GALC]
Niemann-Pick disease, type C1
(GDGDB)
[NPC1]
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Farber Lipogranulomatosis
(GDGDB)
[ASAH1]
Pompe disease
(GDGDB)
[GAA]
Hoarseness
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Hurler syndrome
(GDGDB)
[IDUA]
Hurler-Scheie syndrome
(GDGDB)
[IDUA]
Scheie syndrome
(GDGDB)
[IDUA]
Mucopolysaccharidosis II
(GDGDB)
[IDS]
Farber Lipogranulomatosis
(GDGDB)
[ASAH1]
Respiratory Insufficiency
Airway Obstruction
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Hurler syndrome
(GDGDB)
[IDUA]
Hurler-Scheie syndrome
(GDGDB)
[IDUA]
Scheie syndrome
(GDGDB)
[IDUA]
Mucopolysaccharidosis II
(GDGDB)
[IDS]
Morquio syndrome A
(GDGDB)
[GALNS]
Morquio syndrome B
(GDGDB)
[GLB1]
Mucopolysaccharidosis VI
(GDGDB)
(GDGDB)
[ARSB]
Mucopolysaccharidosis VII
(GDGDB)
[GUSB]
Krabbe disease
(GDGDB)
[GALC]
Krabbe disease, infantile form
[GALC]
Combined saposin deficiency
(GDGDB)
[PSAP]
Pompe disease
(GDGDB)
[GAA]
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