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
'Psychomotor Disorders'
Congenital, Hereditary, and Neonatal Diseases and Abnormalities related to Glycans
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
(synthesis)
Hereditary disorders by systems
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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