GGDonto: Genetic Glyco-Diseases Ontology
Legend:
Concept Types
target (single disease)
classification term
pathway-based classification term
clinical findings
multiple types disease
single disease
disease type
'CDG-If' 'MPDU1-CDG'
Congenital, Hereditary, and Neonatal Diseases and Abnormalities related to Glycans
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
(synthesis)
Pathogenesis
Genetic disorders of glycan synthesis (traditional nomenclature)
Defects in N-glycan biosynthesis
Disorders of N-linked glycosylation - Congenital disorders of glycosylation (CDGs)
Type I CDGs
CDG-If
(GDGDB)
[MPDU1]
Genetic disorders of glycan synthesis (new nomenclature)
Congenital disorders of glycosylation (CDGs)
Defects in multiple glycosylation and other pathways
MPDU1-CDG
(GDGDB)
[MPDU1]
Hereditary disorders by systems
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Eye Diseases
Vision Disorders
Vision, Low
MPDU1-CDG
(GDGDB)
[MPDU1]
Musculoskeletal Diseases
Bone Diseases
Bone Diseases, Developmental
Dwarfism
MPDU1-CDG
(GDGDB)
[MPDU1]
Nervous System Diseases
Neurologic Manifestations
Neurobehavioral Manifestations
Psychomotor Disorders
MPDU1-CDG
(GDGDB)
[MPDU1]
Neuromuscular Manifestations
Muscle Hypertonia
MPDU1-CDG
(GDGDB)
[MPDU1]
Sensation Disorders
Vision Disorders
Vision, Low
MPDU1-CDG
(GDGDB)
[MPDU1]
Seizures
MPDU1-CDG
(GDGDB)
[MPDU1]
Pathological Conditions, Signs and Symptoms
Pathologic Processes
Growth Disorders
MPDU1-CDG
(GDGDB)
[MPDU1]
Signs and Symptoms
Failure to Thrive
MPDU1-CDG
(GDGDB)
[MPDU1]
Respiratory Tract Diseases
Respiration Disorders
MPDU1-CDG
(GDGDB)
[MPDU1]
Skin and Connective Tissue Diseases
Skin Diseases
Skin Abnormalities
MPDU1-CDG
(GDGDB)
[MPDU1]
Dermatitis
Dermatitis, Exfoliative
MPDU1-CDG
(GDGDB)
[MPDU1]
Psychiatry and Psychology
Mental Disorders
Mental Disorders Diagnosed in Childhood
Developmental Disabilities
MPDU1-CDG
(GDGDB)
[MPDU1]
Feeding and Eating Disorders of Childhood
MPDU1-CDG
(GDGDB)
[MPDU1]
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