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-Ik' 'ALG1-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-Ik
(GDGDB)
[ALG1]
Genetic disorders of glycan synthesis (new nomenclature)
Congenital disorders of glycosylation (CDGs)
Defects in protein N-glycosylation
Defects in lipid-linked oligosaccharide biosynthesis
ALG1-CDG
(GDGDB)
[ALG1]
Hereditary disorders by systems
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Cardiovascular Diseases
Heart Diseases
Cardiomyopathies
ALG1-CDG
(GDGDB)
[ALG1]
Digestive System Diseases
Liver Diseases
Hepatomegaly
ALG1-CDG
(GDGDB)
[ALG1]
ALG1-CDG
(GDGDB)
[ALG1]
Endocrine System Diseases
Gonadal Disorders
Hypogonadism
ALG1-CDG
(GDGDB)
[ALG1]
Eye Diseases
Vision Disorders
Vision, Low
ALG1-CDG
(GDGDB)
[ALG1]
Female Urogenital Diseases and Pregnancy Complications
Female Urogenital Diseases
Urologic Diseases
Kidney Diseases
Nephrosis
Nephrotic Syndrome
ALG1-CDG
(GDGDB)
[ALG1]
Hemic and Lymphatic Diseases
Hematologic Diseases
Blood Coagulation Disorders
ALG1-CDG
(GDGDB)
[ALG1]
Lymphatic Diseases
Splenic Diseases
ALG1-CDG
(GDGDB)
[ALG1]
Male Urogenital Diseases
Urologic Diseases
Kidney Diseases
Nephrosis
Nephrotic Syndrome
ALG1-CDG
(GDGDB)
[ALG1]
Musculoskeletal Diseases
Joint Diseases
Contracture
ALG1-CDG
(GDGDB)
[ALG1]
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Craniofacial Dysostosis
Hypertelorism
ALG1-CDG
(GDGDB)
[ALG1]
Maxillofacial Abnormalities
ALG1-CDG
(GDGDB)
[ALG1]
Jaw Abnormalities
Micrognathism
ALG1-CDG
(GDGDB)
[ALG1]
Microcephaly
ALG1-CDG
(GDGDB)
[ALG1]
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Cerebellar Diseases
ALG1-CDG
(GDGDB)
[ALG1]
Epilepsy
ALG1-CDG
(GDGDB)
[ALG1]
Nervous System Malformations
Malformations of Cortical Development
Microcephaly
ALG1-CDG
(GDGDB)
[ALG1]
Neurodegenerative Diseases
Heredodegenerative Disorders, Nervous System
ALG1-CDG
(GDGDB)
[ALG1]
Neurologic Manifestations
Neurobehavioral Manifestations
Psychomotor Disorders
ALG1-CDG
(GDGDB)
[ALG1]
Neuromuscular Manifestations
Muscle Hypotonia
ALG1-CDG
(GDGDB)
[ALG1]
Sensation Disorders
Vision Disorders
Vision, Low
ALG1-CDG
(GDGDB)
[ALG1]
Reflex, Abnormal
ALG1-CDG
(GDGDB)
[ALG1]
Seizures
ALG1-CDG
(GDGDB)
[ALG1]
Pathological Conditions, Signs and Symptoms
Signs and Symptoms
Edema
Hydrops Fetalis
ALG1-CDG
(GDGDB)
[ALG1]
Respiratory Tract Diseases
Respiration Disorders
Respiratory Insufficiency
ALG1-CDG
(GDGDB)
[ALG1]
Stomatognathic Diseases
Stomatognathic System Abnormalities
Maxillofacial Abnormalities
Jaw Abnormalities
Micrognathism
ALG1-CDG
(GDGDB)
[ALG1]
Immune System Diseases
Immunologic Deficiency Syndromes
Dysgammaglobulinemia
ALG1-CDG
(GDGDB)
[ALG1]
ALG1-CDG
(GDGDB)
[ALG1]
Psychiatry and Psychology
Mental Disorders
Mental Disorders Diagnosed in Childhood
Developmental Disabilities
ALG1-CDG
(GDGDB)
[ALG1]
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