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
'Developmental Disabilities'
(
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
Developmental Disabilities
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, infantile multisystem stage
[PMM2]
PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage
[PMM2]
ALG6-CDG
(GDGDB)
[ALG6]
ALG3-CDG
(GDGDB)
[ALG3]
DPM1-CDG
(GDGDB)
[DPM1]
MPDU1-CDG
(GDGDB)
[MPDU1]
ALG12-CDG
(GDGDB)
[ALG12]
ALG2-CDG
(GDGDB)
[ALG2]
DPAGT1-CDG
(GDGDB)
[DPAGT1]
ALG1-CDG
(GDGDB)
[ALG1]
ALG9-CDG
(GDGDB)
[ALG9]
DOLK-CDG
[TMEM15]
RFT1-CDG
[RFT1]
MGAT2-CDG
(GDGDB)
[MGAT2]
SLC35C1-CDG
(GDGDB)
[SLC35C1]
B4GALT1-CDG
(GDGDB)
[B4GALT1]
COG1-CDG
[COG1]
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]
LARGE-CDG (cong. muscular dystrophy spectrum)
[LARGE]
B4GALT7-CDG
[B4GALT7]
B3GALTL-CDG
[B3GALTL]
Lysyl hydroxylase 3 deficiency
(GDGDB)
[PLOD3]
ST3GAL5-CDG
[SIAT9]
ALG11-CDG
[ALG11]
SRD5A3-CDG
[SRD5A3]
DDOST-CDG
[DDOST]
COG6-CDG
[COG6]
Hyperphosphatasia with mental retardation syndrome 1
[PIGV]
Multiple congenital anomalies-hypotonia-seizures syndrome 1
[PIGN]
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