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
'Motor Skills 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)
Psychiatry and Psychology
Mental Disorders
Mental Disorders Diagnosed in Childhood
Motor Skills Disorders
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage
[PMM2]
ALG6-CDG
(GDGDB)
[ALG6]
ALG12-CDG
(GDGDB)
[ALG12]
B4GALT1-CDG
(GDGDB)
[B4GALT1]
COG1-CDG
[COG1]
COG5-CDG
[COG5]
COG4-CDG
[COG4]
ATP6VOA2-CDG
[ATP6V0A2]
POMT1/POMT2-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMT1,POMT2]
POMGNT1-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMGNT1]
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Muscular dystrophy, limb-girdle, type 2M
(GDGDB)
[FKTN]
Muscular dystrophy, congenital, type 1C
(GDGDB)
[FKRP]
Muscular dystrophy, limb-girdle, type 2I
(GDGDB)
[FKRP]
LARGE-CDG (cong. muscular dystrophy spectrum)
[LARGE]
Duchenne muscular dystrophy
[DMD]
Ehlers-Danlos syndrome, type VI
(GDGDB)
(GDGDB)
[PLOD1]
ST3GAL5-CDG
[SIAT9]
SRD5A3-CDG
[SRD5A3]
DDOST-CDG
[DDOST]
Ehlers-Danlos syndrome, musculocontractural type
[CHST14]
Hyperphosphatasia with mental retardation syndrome 1
[PIGV]
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