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-IL' 'ALG9-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-IL
(GDGDB)
[ALG9]
Genetic disorders of glycan synthesis (new nomenclature)
Congenital disorders of glycosylation (CDGs)
Defects in protein N-glycosylation
Defects in lipid-linked oligosaccharide biosynthesis
ALG9-CDG
(GDGDB)
[ALG9]
Hereditary disorders by systems
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Cardiovascular Diseases
Heart Diseases
Pericardial Effusion
ALG9-CDG
(GDGDB)
[ALG9]
Digestive System Diseases
Liver Diseases
Hepatomegaly
ALG9-CDG
(GDGDB)
[ALG9]
Eye Diseases
Ocular Motility Disorders
Strabismus
Esotropia
ALG9-CDG
(GDGDB)
[ALG9]
Female Urogenital Diseases and Pregnancy Complications
Female Urogenital Diseases
Urologic Diseases
Kidney Diseases
Kidney Diseases, Cystic
ALG9-CDG
(GDGDB)
[ALG9]
Hemic and Lymphatic Diseases
Lymphatic Diseases
Splenic Diseases
ALG9-CDG
(GDGDB)
[ALG9]
Male Urogenital Diseases
Urologic Diseases
Kidney Diseases
Kidney Diseases, Cystic
ALG9-CDG
(GDGDB)
[ALG9]
Musculoskeletal Diseases
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Microcephaly
ALG9-CDG
(GDGDB)
[ALG9]
Nervous System Diseases
Nervous System Malformations
Malformations of Cortical Development
Microcephaly
ALG9-CDG
(GDGDB)
[ALG9]
Neurodegenerative Diseases
Heredodegenerative Disorders, Nervous System
ALG9-CDG
(GDGDB)
[ALG9]
Neurologic Manifestations
Neuromuscular Manifestations
Muscle Hypotonia
ALG9-CDG
(GDGDB)
[ALG9]
Seizures
ALG9-CDG
(GDGDB)
[ALG9]
Cranial Nerve Diseases
Ocular Motility Disorders
Strabismus
Esotropia
ALG9-CDG
(GDGDB)
[ALG9]
Pathological Conditions, Signs and Symptoms
Pathologic Processes
Growth Disorders
ALG9-CDG
(GDGDB)
[ALG9]
Signs and Symptoms
Failure to Thrive
ALG9-CDG
(GDGDB)
[ALG9]
Respiratory Tract Diseases
Respiratory Hypersensitivity
Asthma
ALG9-CDG
(GDGDB)
[ALG9]
Psychiatry and Psychology
Mental Disorders
Mental Disorders Diagnosed in Childhood
Developmental Disabilities
ALG9-CDG
(GDGDB)
[ALG9]
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