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-IIb' 'GCS1-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 II CDGs
CDG-IIb
(GDGDB)
[GCS1]
Genetic disorders of glycan synthesis (new nomenclature)
Congenital disorders of glycosylation (CDGs)
Defects in protein N-glycosylation
Defects in N-glycosylation
Defects in N-glycan trimming
GCS1-CDG
(GDGDB)
[GCS1]
Hereditary disorders by systems
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Digestive System Diseases
Liver Diseases
Hepatomegaly
GCS1-CDG
(GDGDB)
[GCS1]
Female Urogenital Diseases and Pregnancy Complications
Female Urogenital Diseases
Urogenital Abnormalities
GCS1-CDG
(GDGDB)
[GCS1]
Musculoskeletal Diseases
Bone Diseases
Spinal Diseases
Spinal Curvatures
Scoliosis
GCS1-CDG
(GDGDB)
[GCS1]
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Maxillofacial Abnormalities
GCS1-CDG
(GDGDB)
[GCS1]
Nervous System Diseases
Neurologic Manifestations
Neuromuscular Manifestations
Muscle Hypotonia
GCS1-CDG
(GDGDB)
[GCS1]
Seizures
GCS1-CDG
(GDGDB)
[GCS1]
Pathological Conditions, Signs and Symptoms
Signs and Symptoms
Edema
GCS1-CDG
(GDGDB)
[GCS1]
Respiratory Tract Diseases
Respiration Disorders
Apnea
GCS1-CDG
(GDGDB)
[GCS1]
Respiratory Insufficiency
Hypoventilation
GCS1-CDG
(GDGDB)
[GCS1]
GCS1-CDG
(GDGDB)
[GCS1]
Psychiatry and Psychology
Mental Disorders
Mental Disorders Diagnosed in Childhood
Feeding and Eating Disorders of Childhood
GCS1-CDG
(GDGDB)
[GCS1]
Copyright © 2014-2023 National Institute of Advanced Industrial Science and Technology (AIST)