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-Id' 'ALG3-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 I CDGs
CDG-Id
(GDGDB)
[ALG3]
Genetic disorders of glycan synthesis (new nomenclature)
Congenital disorders of glycosylation (CDGs)
Defects in protein N-glycosylation
Defects in lipid-linked oligosaccharide biosynthesis
ALG3-CDG
(GDGDB)
[ALG3]
Hereditary disorders by systems
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Digestive System Diseases
Liver Diseases
ALG3-CDG
(GDGDB)
[ALG3]
Eye Diseases
Eye Abnormalities
Coloboma
ALG3-CDG
(GDGDB)
[ALG3]
Eye Diseases, Hereditary
Optic Atrophies, Hereditary
ALG3-CDG
(GDGDB)
[ALG3]
Ocular Motility Disorders
Strabismus
ALG3-CDG
(GDGDB)
[ALG3]
Vision Disorders
Blindness
ALG3-CDG
(GDGDB)
[ALG3]
Vision, Low
ALG3-CDG
(GDGDB)
[ALG3]
Optic Nerve Diseases
Optic Atrophy
Optic Atrophies, Hereditary
ALG3-CDG
(GDGDB)
[ALG3]
Musculoskeletal Diseases
Joint Diseases
Contracture
ALG3-CDG
(GDGDB)
[ALG3]
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Maxillofacial Abnormalities
ALG3-CDG
(GDGDB)
[ALG3]
Microcephaly
ALG3-CDG
(GDGDB)
[ALG3]
Arthrogryposis
ALG3-CDG
(GDGDB)
[ALG3]
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Cerebellar Diseases
ALG3-CDG
(GDGDB)
[ALG3]
Epilepsy
Epilepsy, Generalized
Spasms, Infantile
ALG3-CDG
(GDGDB)
[ALG3]
ALG3-CDG
(GDGDB)
[ALG3]
Nervous System Malformations
Malformations of Cortical Development
Microcephaly
ALG3-CDG
(GDGDB)
[ALG3]
Neurodegenerative Diseases
Heredodegenerative Disorders, Nervous System
ALG3-CDG
(GDGDB)
[ALG3]
Neurologic Manifestations
Neurobehavioral Manifestations
Psychomotor Disorders
ALG3-CDG
(GDGDB)
[ALG3]
Communication Disorders
Language Disorders
Speech Disorders
ALG3-CDG
(GDGDB)
[ALG3]
Intellectual Disability
ALG3-CDG
(GDGDB)
[ALG3]
Neuromuscular Manifestations
Muscle Hypotonia
ALG3-CDG
(GDGDB)
[ALG3]
Paresis
Paraparesis
Paraparesis, Spastic
ALG3-CDG
(GDGDB)
[ALG3]
Sensation Disorders
Vision Disorders
Blindness
ALG3-CDG
(GDGDB)
[ALG3]
Vision, Low
ALG3-CDG
(GDGDB)
[ALG3]
Reflex, Abnormal
ALG3-CDG
(GDGDB)
[ALG3]
Seizures
ALG3-CDG
(GDGDB)
[ALG3]
Cranial Nerve Diseases
Ocular Motility Disorders
Strabismus
ALG3-CDG
(GDGDB)
[ALG3]
Optic Nerve Diseases
Optic Atrophy
Optic Atrophies, Hereditary
ALG3-CDG
(GDGDB)
[ALG3]
Pathological Conditions, Signs and Symptoms
Pathologic Processes
Growth Disorders
ALG3-CDG
(GDGDB)
[ALG3]
Signs and Symptoms
Signs and Symptoms, Digestive
Diarrhea
ALG3-CDG
(GDGDB)
[ALG3]
Vomiting
ALG3-CDG
(GDGDB)
[ALG3]
ALG3-CDG
(GDGDB)
[ALG3]
Failure to Thrive
ALG3-CDG
(GDGDB)
[ALG3]
Psychiatry and Psychology
Mental Disorders
Mental Disorders Diagnosed in Childhood
Developmental Disabilities
ALG3-CDG
(GDGDB)
[ALG3]
Intellectual Disability
ALG3-CDG
(GDGDB)
[ALG3]
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