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
Genetic disorders of glycan synthesis
'CDG-IIg' 'COG1-CDG'
(
Integration tree
)
Pathogenesis (traditional nomenclature)
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]
Pathogenesis (new nomenclature)
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]
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
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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