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
'Sensation Disorders'
(
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
Nervous System Diseases
Neurologic Manifestations
Sensation Disorders
Hearing Disorders
Hearing Loss
ST3GAL5-CDG
[SIAT9]
Vision Disorders
Blindness
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage
[PMM2]
PMM2-CDG, adult stable disability stage
[PMM2]
ALG3-CDG
(GDGDB)
[ALG3]
DPM1-CDG
(GDGDB)
[DPM1]
ALG12-CDG
(GDGDB)
[ALG12]
POMT1/POMT2-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMT1,POMT2]
POMGNT1-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMGNT1]
Ehlers-Danlos syndrome, type VI
(GDGDB)
(GDGDB)
[PLOD1]
ST3GAL5-CDG
[SIAT9]
SRD5A3-CDG
[SRD5A3]
Vision, Low
ALG3-CDG
(GDGDB)
[ALG3]
MPDU1-CDG
(GDGDB)
[MPDU1]
ALG1-CDG
(GDGDB)
[ALG1]
POMT1/POMT2-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMT1,POMT2]
POMGNT1-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMGNT1]
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
B3GALTL-CDG
[B3GALTL]
ALG11-CDG
[ALG11]
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