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
'ALG11-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 (new nomenclature)
Congenital disorders of glycosylation (CDGs)
Defects in protein N-glycosylation
Defects in lipid-linked oligosaccharide biosynthesis
ALG11-CDG
[ALG11]
Hereditary disorders by systems
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Digestive System Diseases
Gastrointestinal Diseases
Gastrointestinal Hemorrhage
ALG11-CDG
[ALG11]
Eye Diseases
Ocular Motility Disorders
Strabismus
ALG11-CDG
[ALG11]
Vision Disorders
Vision, Low
ALG11-CDG
[ALG11]
Musculoskeletal Diseases
Bone Diseases
Spinal Diseases
Spinal Curvatures
Scoliosis
ALG11-CDG
[ALG11]
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Microcephaly
ALG11-CDG
[ALG11]
ALG11-CDG
[ALG11]
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Epilepsy
ALG11-CDG
[ALG11]
Nervous System Malformations
Malformations of Cortical Development
Microcephaly
ALG11-CDG
[ALG11]
Neurologic Manifestations
Neurobehavioral Manifestations
Psychomotor Disorders
ALG11-CDG
[ALG11]
Intellectual Disability
ALG11-CDG
[ALG11]
Neuromuscular Manifestations
Muscle Hypotonia
ALG11-CDG
[ALG11]
Sensation Disorders
Vision Disorders
Vision, Low
ALG11-CDG
[ALG11]
Seizures
ALG11-CDG
[ALG11]
Cranial Nerve Diseases
Ocular Motility Disorders
Strabismus
ALG11-CDG
[ALG11]
Otorhinolaryngologic Diseases
Ear Diseases
Hearing Disorders
Hearing Loss
ALG11-CDG
[ALG11]
Pathological Conditions, Signs and Symptoms
Pathologic Processes
Hemorrhage
Gastrointestinal Hemorrhage
ALG11-CDG
[ALG11]
Signs and Symptoms
Body Temperature Changes
ALG11-CDG
[ALG11]
Signs and Symptoms, Digestive
Vomiting
ALG11-CDG
[ALG11]
Failure to Thrive
ALG11-CDG
[ALG11]
Skin and Connective Tissue Diseases
Skin Diseases
Skin Abnormalities
ALG11-CDG
[ALG11]
Skin Diseases, Genetic
ALG11-CDG
[ALG11]
Psychiatry and Psychology
Mental Disorders
Mental Disorders Diagnosed in Childhood
Developmental Disabilities
ALG11-CDG
[ALG11]
Feeding and Eating Disorders of Childhood
ALG11-CDG
[ALG11]
Intellectual Disability
ALG11-CDG
[ALG11]
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