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
'COG6-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 multiple glycosylation and other pathways
Defects in vesicular transport
Defects in COG protein complex
COG6-CDG
[COG6]
Hereditary disorders by systems
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Digestive System Diseases
Gastrointestinal Diseases
COG6-CDG
[COG6]
Liver Diseases
Hepatomegaly
COG6-CDG
[COG6]
Liver Cirrhosis
COG6-CDG
[COG6]
COG6-CDG
[COG6]
Digestive System Abnormalities
COG6-CDG
[COG6]
Female Urogenital Diseases and Pregnancy Complications
Female Urogenital Diseases
Urologic Diseases
Kidney Diseases
Nephrosis
COG6-CDG
[COG6]
Hemic and Lymphatic Diseases
Hematologic Diseases
Blood Coagulation Disorders
COG6-CDG
[COG6]
Male Urogenital Diseases
Urologic Diseases
Kidney Diseases
Nephrosis
COG6-CDG
[COG6]
Musculoskeletal Diseases
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Maxillofacial Abnormalities
COG6-CDG
[COG6]
Retrognathia
COG6-CDG
[COG6]
Microcephaly
COG6-CDG
[COG6]
Limb Deformities, Congenital
COG6-CDG
[COG6]
Nervous System Diseases
Nervous System Malformations
Malformations of Cortical Development
Microcephaly
COG6-CDG
[COG6]
Neurologic Manifestations
Neuromuscular Manifestations
Muscle Hypotonia
COG6-CDG
[COG6]
Seizures
COG6-CDG
[COG6]
Pathological Conditions, Signs and Symptoms
Pathologic Processes
Hemorrhage
COG6-CDG
[COG6]
Signs and Symptoms
Signs and Symptoms, Digestive
Diarrhea
COG6-CDG
[COG6]
Vomiting
COG6-CDG
[COG6]
Failure to Thrive
COG6-CDG
[COG6]
Respiratory Tract Diseases
Respiratory Tract Infections
COG6-CDG
[COG6]
Stomatognathic Diseases
Stomatognathic System Abnormalities
Maxillofacial Abnormalities
Jaw Abnormalities
Retrognathia
COG6-CDG
[COG6]
Immune System Diseases
Immunologic Deficiency Syndromes
Dysgammaglobulinemia
COG6-CDG
[COG6]
COG6-CDG
[COG6]
Psychiatry and Psychology
Mental Disorders
Mental Disorders Diagnosed in Childhood
Developmental Disabilities
COG6-CDG
[COG6]
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