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
'Gaucher disease, type II'
Congenital, Hereditary, and Neonatal Diseases and Abnormalities related to Glycans
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lysosomal Storage Diseases
(degradation)
Pathogenesis
Genetic disorders of glycan degradation
Disorders of sphingolipid metabolism and other lipid storage disorders
Sphingolipidosis
Other sphingolipidosis
Gaucher disease
Gaucher disease, type II
(GDGDB)
[GBA]
Gaucher disease, type II, neuronopathic form, classic type
[GBA]
Gaucher disease, type II, perinatal lethal form
[GBA]
Hereditary disorders by systems
Genetic disorders of glycan degradation (by systems, signs and symptoms)
Diseases
Digestive System Diseases
Liver Diseases
Hepatomegaly
Gaucher disease, type II
(GDGDB)
[GBA]
Eye Diseases
Ocular Motility Disorders
Gaucher disease, type II
(GDGDB)
[GBA]
Hemic and Lymphatic Diseases
Hematologic Diseases
Anemia
Gaucher disease, type II
(GDGDB)
[GBA]
Blood Platelet Disorders
Thrombocytopenia
Gaucher disease, type II
(GDGDB)
[GBA]
Hemorrhagic Disorders
Gaucher disease, type II
(GDGDB)
[GBA]
Lymphatic Diseases
Splenic Diseases
Gaucher disease, type II
(GDGDB)
[GBA]
Musculoskeletal Diseases
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Maxillofacial Abnormalities
Gaucher disease, type II
(GDGDB)
[GBA]
Gaucher disease, type II, perinatal lethal form
[GBA]
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Gaucher disease, type II
(GDGDB)
[GBA]
Dementia
Gaucher disease, type II
(GDGDB)
[GBA]
Movement Disorders
Dyskinesias
Gaucher disease, type II
(GDGDB)
[GBA]
Ocular Motility Disorders
Gaucher disease, type II
(GDGDB)
[GBA]
Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Gaucher disease, type II
(GDGDB)
[GBA]
Neuromuscular Manifestations
Fasciculation
Gaucher disease, type II
(GDGDB)
[GBA]
Seizures
Gaucher disease, type II
(GDGDB)
[GBA]
Otorhinolaryngologic Diseases
Pharyngeal Diseases
Deglutition Disorders
Gaucher disease, type II
(GDGDB)
[GBA]
Pathological Conditions, Signs and Symptoms
Signs and Symptoms
Edema
Hydrops Fetalis
Gaucher disease, type II
(GDGDB)
[GBA]
Gaucher disease, type II, perinatal lethal form
[GBA]
Respiratory Tract Diseases
Lung Diseases
Gaucher disease, type II
(GDGDB)
[GBA]
Respiration Disorders
Dyspnea
Gaucher disease, type II
(GDGDB)
[GBA]
Skin and Connective Tissue Diseases
Skin Diseases
Skin Abnormalities
Ichthyosis
Gaucher disease, type II
(GDGDB)
[GBA]
Gaucher disease, type II, perinatal lethal form
[GBA]
Gaucher disease, type II
(GDGDB)
[GBA]
Gaucher disease, type II, perinatal lethal form
[GBA]
Stomatognathic Diseases
Stomatognathic System Abnormalities
Maxillofacial Abnormalities
Gaucher disease, type II
(GDGDB)
[GBA]
Gaucher disease, type II, perinatal lethal form
[GBA]
Psychiatry and Psychology
Mental Disorders
Mental Disorders Diagnosed in Childhood
Developmental Disabilities
Gaucher disease, type II
(GDGDB)
[GBA]
Motor Skills Disorders
Gaucher disease, type II
(GDGDB)
[GBA]
Intellectual Disability
Gaucher disease, type II
(GDGDB)
[GBA]
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