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-IIa' 'MGAT2-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 II CDGs
CDG-IIa
(GDGDB)
[MGAT2]
Genetic disorders of glycan synthesis (new nomenclature)
Congenital disorders of glycosylation (CDGs)
Defects in protein N-glycosylation
Defects in N-glycosylation
Defect in N-glycan branching
MGAT2-CDG
(GDGDB)
[MGAT2]
Hereditary disorders by systems
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Endocrine System Diseases
Gonadal Disorders
Puberty, Delayed
MGAT2-CDG
(GDGDB)
[MGAT2]
Hemic and Lymphatic Diseases
Hematologic Diseases
Blood Coagulation Disorders
MGAT2-CDG
(GDGDB)
[MGAT2]
Musculoskeletal Diseases
Bone Diseases
Bone Diseases, Developmental
Dwarfism
MGAT2-CDG
(GDGDB)
[MGAT2]
Bone Diseases, Metabolic
Osteoporosis
MGAT2-CDG
(GDGDB)
[MGAT2]
Spinal Diseases
Spinal Curvatures
MGAT2-CDG
(GDGDB)
[MGAT2]
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Maxillofacial Abnormalities
MGAT2-CDG
(GDGDB)
[MGAT2]
Limb Deformities, Congenital
MGAT2-CDG
(GDGDB)
[MGAT2]
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Epilepsy
MGAT2-CDG
(GDGDB)
[MGAT2]
Neurologic Manifestations
Neurobehavioral Manifestations
Psychomotor Disorders
MGAT2-CDG
(GDGDB)
[MGAT2]
Neuromuscular Manifestations
Muscular Atrophy
MGAT2-CDG
(GDGDB)
[MGAT2]
Seizures
MGAT2-CDG
(GDGDB)
[MGAT2]
Otorhinolaryngologic Diseases
Ear Diseases
Hearing Disorders
Hearing Loss
MGAT2-CDG
(GDGDB)
[MGAT2]
Pathological Conditions, Signs and Symptoms
Pathologic Processes
Growth Disorders
MGAT2-CDG
(GDGDB)
[MGAT2]
Hemorrhage
MGAT2-CDG
(GDGDB)
[MGAT2]
Signs and Symptoms
Signs and Symptoms, Digestive
Diarrhea
MGAT2-CDG
(GDGDB)
[MGAT2]
MGAT2-CDG
(GDGDB)
[MGAT2]
Failure to Thrive
MGAT2-CDG
(GDGDB)
[MGAT2]
Respiratory Tract Diseases
Respiratory Tract Infections
MGAT2-CDG
(GDGDB)
[MGAT2]
Psychiatry and Psychology
Mental Disorders
Mental Disorders Diagnosed in Childhood
Developmental Disabilities
MGAT2-CDG
(GDGDB)
[MGAT2]
Feeding and Eating Disorders of Childhood
MGAT2-CDG
(GDGDB)
[MGAT2]
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