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
'DDOST-CDG'
(
Integration tree
)
Pathogenesis (traditional nomenclature)
Genetic disorders of glycan synthesis (traditional nomenclature)
Pathogenesis (new nomenclature)
Genetic disorders of glycan synthesis (new nomenclature)
Congenital disorders of glycosylation (CDGs)
Defects in protein N-glycosylation
Defects in N-glycosylation
Defects in oligosaccharyltransferase subunits
DDOST-CDG
[DDOST]
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Digestive System Diseases
Liver Diseases
DDOST-CDG
[DDOST]
Eye Diseases
Ocular Motility Disorders
Strabismus
DDOST-CDG
[DDOST]
Hemic and Lymphatic Diseases
Hematologic Diseases
Blood Coagulation Disorders
Coagulation Protein Disorders
DDOST-CDG
[DDOST]
Musculoskeletal Diseases
Bone Diseases
Bone Diseases, Metabolic
Osteoporosis
DDOST-CDG
[DDOST]
Nervous System Diseases
Demyelinating Diseases
Hereditary Central Nervous System Demyelinating Diseases
DDOST-CDG
[DDOST]
Neurodegenerative Diseases
Heredodegenerative Disorders, Nervous System
DDOST-CDG
[DDOST]
Neurologic Manifestations
Neurobehavioral Manifestations
Psychomotor Disorders
DDOST-CDG
[DDOST]
Communication Disorders
Language Disorders
Speech Disorders
DDOST-CDG
[DDOST]
Neuromuscular Manifestations
Muscle Hypotonia
DDOST-CDG
[DDOST]
Cranial Nerve Diseases
Ocular Motility Disorders
Strabismus
DDOST-CDG
[DDOST]
Otorhinolaryngologic Diseases
Ear Diseases
Otitis
DDOST-CDG
[DDOST]
Pharyngeal Diseases
Deglutition Disorders
DDOST-CDG
[DDOST]
Pathological Conditions, Signs and Symptoms
Signs and Symptoms
Signs and Symptoms, Digestive
Constipation
DDOST-CDG
[DDOST]
Failure to Thrive
DDOST-CDG
[DDOST]
Psychiatry and Psychology
Mental Disorders
Mental Disorders Diagnosed in Childhood
Developmental Disabilities
DDOST-CDG
[DDOST]
Motor Skills Disorders
DDOST-CDG
[DDOST]
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