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-IIg' 'COG1-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-IIg
[COG1]
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
COG1-CDG
[COG1]
Hereditary disorders by systems
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Cardiovascular Diseases
Cardiovascular Abnormalities
Heart Defects, Congenital
COG1-CDG
[COG1]
Digestive System Diseases
Liver Diseases
Hepatomegaly
COG1-CDG
[COG1]
Hemic and Lymphatic Diseases
Lymphatic Diseases
Splenic Diseases
COG1-CDG
[COG1]
Musculoskeletal Diseases
Bone Diseases
Bone Diseases, Developmental
Dwarfism
COG1-CDG
[COG1]
Bone Diseases, Metabolic
Osteoporosis
COG1-CDG
[COG1]
Spinal Diseases
Spinal Curvatures
COG1-CDG
[COG1]
Spondylosis
COG1-CDG
[COG1]
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Maxillofacial Abnormalities
COG1-CDG
[COG1]
Jaw Abnormalities
Micrognathism
COG1-CDG
[COG1]
Microcephaly
COG1-CDG
[COG1]
Nervous System Diseases
Nervous System Malformations
Malformations of Cortical Development
Microcephaly
COG1-CDG
[COG1]
Neurodegenerative Diseases
Heredodegenerative Disorders, Nervous System
COG1-CDG
[COG1]
Neurologic Manifestations
Neurobehavioral Manifestations
Psychomotor Disorders
COG1-CDG
[COG1]
Intellectual Disability
COG1-CDG
[COG1]
Neuromuscular Manifestations
Muscle Hypotonia
COG1-CDG
[COG1]
Pathological Conditions, Signs and Symptoms
Pathologic Processes
Growth Disorders
COG1-CDG
[COG1]
Signs and Symptoms
Failure to Thrive
COG1-CDG
[COG1]
Stomatognathic Diseases
Stomatognathic System Abnormalities
Maxillofacial Abnormalities
Jaw Abnormalities
Micrognathism
COG1-CDG
[COG1]
Psychiatry and Psychology
Mental Disorders
Mental Disorders Diagnosed in Childhood
Developmental Disabilities
COG1-CDG
[COG1]
Feeding and Eating Disorders of Childhood
COG1-CDG
[COG1]
Motor Skills Disorders
COG1-CDG
[COG1]
Intellectual Disability
COG1-CDG
[COG1]
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