GGDonto: Genetic Glyco-Diseases Ontology
Legend:
Concept Types
target (disease type)
classification term
pathway-based classification term
clinical findings
multiple types disease
single disease
disease type
'Farber Lipogranulomatosis, type 5'
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
Farber Lipogranulomatosis
(GDGDB)
[ASAH1]
Farber Lipogranulomatosis, type 5
[ASAH1]
Hereditary disorders by systems
Genetic disorders of glycan degradation (by systems, signs and symptoms)
Diseases
Eye Diseases
Retinal Diseases
Retinal Degeneration
Farber Lipogranulomatosis
(GDGDB)
[ASAH1]
Farber Lipogranulomatosis, type 5
[ASAH1]
Nervous System Diseases
Neurologic Manifestations
Dyskinesias
Myoclonus
Farber Lipogranulomatosis
(GDGDB)
[ASAH1]
Farber Lipogranulomatosis, type 5
[ASAH1]
Neurobehavioral Manifestations
Communication Disorders
Language Disorders
Speech Disorders
Farber Lipogranulomatosis
(GDGDB)
[ASAH1]
Farber Lipogranulomatosis, type 5
[ASAH1]
Paralysis
Farber Lipogranulomatosis
(GDGDB)
[ASAH1]
Farber Lipogranulomatosis, type 5
[ASAH1]
Seizures
Farber Lipogranulomatosis
(GDGDB)
[ASAH1]
Farber Lipogranulomatosis, type 5
[ASAH1]
Pathological Conditions, Signs and Symptoms
Signs and Symptoms
Mobility Limitation
Farber Lipogranulomatosis
(GDGDB)
[ASAH1]
Farber Lipogranulomatosis, type 5
[ASAH1]
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