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
'Respiratory Tract Diseases'
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
Lung Diseases
ALG8-CDG
(GDGDB)
[ALG8]
Muscular dystrophy, limb-girdle, type 2I
(GDGDB)
[FKRP]
TMEM165-CDG
[TMEM165]
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]
Respiratory Tract Infections
ALG12-CDG
(GDGDB)
[ALG12]
DOLK-CDG
[TMEM15]
MGAT2-CDG
(GDGDB)
[MGAT2]
SLC35C1-CDG
(GDGDB)
[SLC35C1]
SLC35A1-CDG
[SLC35A1]
COG4-CDG
[COG4]
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
ALG13-CDG
[ALG13]
COG6-CDG
[COG6]
Respiratory Hypersensitivity
Asthma
ALG9-CDG
(GDGDB)
[ALG9]
Ehlers-Danlos syndrome, musculocontractural type
[CHST14]
Lysosomal Storage Diseases
(degradation)
Hereditary disorders by systems
Genetic disorders of glycan degradation (by systems, signs and symptoms)
Diseases
Respiratory Tract Diseases
Lung Diseases
Hurler syndrome
(GDGDB)
[IDUA]
Hurler-Scheie syndrome
(GDGDB)
[IDUA]
Scheie syndrome
(GDGDB)
[IDUA]
Gaucher disease, type I
(GDGDB)
[GBA]
Gaucher disease, type II
(GDGDB)
[GBA]
Gaucher disease, type III
(GDGDB)
[GBA]
Niemann-Pick disease, type A
(GDGDB)
[SMPD1]
Niemann-Pick disease, type B
(GDGDB)
[SMPD1]
Niemann-Pick disease, type C1
(GDGDB)
[NPC1]
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Farber Lipogranulomatosis
(GDGDB)
[ASAH1]
Farber Lipogranulomatosis, type 1
[ASAH1]
Farber Lipogranulomatosis, type 4
[ASAH1]
Pompe disease
(GDGDB)
[GAA]
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]
Respiratory Tract Infections
Aspartylglucosaminuria
(GDGDB)
[AGA]
Fucosidosis
(GDGDB)
[FUCA1]
Alpha-mannosidosis
(GDGDB)
[MAN2B1]
Beta-mannosidosis
(GDGDB)
[MANBA]
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Mucolipidosis III (alpha/beta)
(GDGDB)
[GNPTAB]
Hurler syndrome
(GDGDB)
[IDUA]
Hurler-Scheie syndrome
(GDGDB)
[IDUA]
Scheie syndrome
(GDGDB)
[IDUA]
Mucopolysaccharidosis II
(GDGDB)
[IDS]
Sanfilippo syndrome A
(GDGDB)
[SGSH]
Sanfilippo syndrome B
(GDGDB)
[NAGLU]
Sanfilippo syndrome C
(GDGDB)
[HGSNAT]
Sanfilippo syndrome D
(GDGDB)
[GNS]
Morquio syndrome A
(GDGDB)
[GALNS]
Morquio syndrome B
(GDGDB)
[GLB1]
Mucopolysaccharidosis VI
(GDGDB)
(GDGDB)
[ARSB]
Mucopolysaccharidosis VII
(GDGDB)
[GUSB]
Niemann-Pick disease, type A
(GDGDB)
[SMPD1]
Niemann-Pick disease, type B
(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]
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