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
'Psychomotor 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
Neurobehavioral Manifestations
Psychomotor Disorders
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, infantile multisystem stage
[PMM2]
ALG6-CDG
(GDGDB)
[ALG6]
ALG3-CDG
(GDGDB)
[ALG3]
MPDU1-CDG
(GDGDB)
[MPDU1]
ALG12-CDG
(GDGDB)
[ALG12]
ALG8-CDG
(GDGDB)
[ALG8]
ALG1-CDG
(GDGDB)
[ALG1]
MGAT2-CDG
(GDGDB)
[MGAT2]
SLC35C1-CDG
(GDGDB)
[SLC35C1]
COG7-CDG
(GDGDB)
[COG7]
COG1-CDG
[COG1]
COG8-CDG
[COG8]
COG4-CDG
[COG4]
ST3GAL5-CDG
[SIAT9]
ALG11-CDG
[ALG11]
DDOST-CDG
[DDOST]
ALG13-CDG
[ALG13]
TMEM165-CDG
[TMEM165]
Mental retardation, autosomal recessive 15
[MAN1B1]
Multiple congenital anomalies-hypotonia-seizures syndrome 1
[PIGN]
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