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-IIe' 'COG7-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-IIe
(GDGDB)
[COG7]
Genetic disorders of glycan synthesis (new nomenclature)
Congenital disorders of glycosylation (CDGs)
Defects in multiple glycosylation and other pathways
Defects in vesicular transport
Defects in COG protein complex
COG7-CDG
(GDGDB)
[COG7]
Hereditary disorders by systems
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Digestive System Diseases
Liver Diseases
Hepatomegaly
COG7-CDG
(GDGDB)
[COG7]
Hemic and Lymphatic Diseases
Lymphatic Diseases
Splenic Diseases
COG7-CDG
(GDGDB)
[COG7]
Musculoskeletal Diseases
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Maxillofacial Abnormalities
COG7-CDG
(GDGDB)
[COG7]
Jaw Abnormalities
Micrognathism
COG7-CDG
(GDGDB)
[COG7]
COG7-CDG
(GDGDB)
[COG7]
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Epilepsy
COG7-CDG
(GDGDB)
[COG7]
Neurodegenerative Diseases
Heredodegenerative Disorders, Nervous System
COG7-CDG
(GDGDB)
[COG7]
Neurologic Manifestations
Neurobehavioral Manifestations
Psychomotor Disorders
COG7-CDG
(GDGDB)
[COG7]
Neuromuscular Manifestations
Muscle Hypotonia
COG7-CDG
(GDGDB)
[COG7]
Seizures
COG7-CDG
(GDGDB)
[COG7]
Pathological Conditions, Signs and Symptoms
Pathologic Processes
Growth Disorders
COG7-CDG
(GDGDB)
[COG7]
Hyperbilirubinemia
Jaundice
COG7-CDG
(GDGDB)
[COG7]
Signs and Symptoms
Body Temperature Changes
Fever
COG7-CDG
(GDGDB)
[COG7]
Failure to Thrive
COG7-CDG
(GDGDB)
[COG7]
Skin and Connective Tissue Diseases
Connective Tissue Diseases
Cutis Laxa
COG7-CDG
(GDGDB)
[COG7]
Stomatognathic Diseases
Stomatognathic System Abnormalities
Maxillofacial Abnormalities
Jaw Abnormalities
Micrognathism
COG7-CDG
(GDGDB)
[COG7]
Psychiatry and Psychology
Mental Disorders
Mental Disorders Diagnosed in Childhood
Feeding and Eating Disorders of Childhood
COG7-CDG
(GDGDB)
[COG7]
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