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
Genetic disorders of glycan synthesis
'Heart Diseases'
(
Integration tree
)
Pathogenesis (traditional nomenclature)
Genetic disorders of glycan synthesis (traditional nomenclature)
Pathogenesis (new nomenclature)
Genetic disorders of glycan synthesis (new nomenclature)
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Cardiovascular Diseases
Heart Diseases
Cardiomegaly
Cardiomyopathy, dilated, 1X
(GDGDB)
[FKTN]
Heart Failure
DOLK-CDG
[TMEM15]
Ehlers-Danlos syndrome, type VI
(GDGDB)
(GDGDB)
[PLOD1]
Heart Valve Diseases
Ehlers-Danlos syndrome, type VI
(GDGDB)
(GDGDB)
[PLOD1]
Cardiomyopathies
Endomyocardial Fibrosis
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, infantile multisystem stage
[PMM2]
ALG1-CDG
(GDGDB)
[ALG1]
DOLK-CDG
[TMEM15]
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Muscular dystrophy, limb-girdle, type 2M
(GDGDB)
[FKTN]
Cardiomyopathy, dilated, 1X
(GDGDB)
[FKTN]
Muscular dystrophy, limb-girdle, type 2I
(GDGDB)
[FKRP]
Duchenne muscular dystrophy
[DMD]
DPM3-CDG
[DPM3]
PGM1-CDG
[PGM1]
Pericardial Effusion
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, infantile multisystem stage
[PMM2]
PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage
[PMM2]
PMM2-CDG, adult stable disability stage
[PMM2]
ALG9-CDG
(GDGDB)
[ALG9]
Arrhythmias, Cardiac
DOLK-CDG
[TMEM15]
ALG12-CDG
(GDGDB)
[ALG12]
ALG8-CDG
(GDGDB)
[ALG8]
Cardiomyopathy, dilated, 1X
(GDGDB)
[FKTN]
Muscular dystrophy, limb-girdle, type 2I
(GDGDB)
[FKRP]
DPM3-CDG
[DPM3]
SRD5A3-CDG
[SRD5A3]
PGM1-CDG
[PGM1]
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
[B3GAT3]
Spondyloepiphyseal dysplasia with congenital joint dislocations
[CHST3]
Ehlers-Danlos syndrome, musculocontractural type
[CHST14]
Hyperphosphatasia with mental retardation syndrome 1
[PIGV]
Multiple congenital anomalies-hypotonia-seizures syndrome 1
[PIGN]
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