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
'Niemann-Pick disease, type C2'
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
Niemann-Pick disease
Niemann-Pick disease, type C
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Hereditary disorders by systems
Genetic disorders of glycan degradation (by systems, signs and symptoms)
Diseases
Digestive System Diseases
Liver Diseases
Hepatomegaly
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Eye Diseases
Ocular Motility Disorders
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Hemic and Lymphatic Diseases
Lymphatic Diseases
Splenic Diseases
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Dementia
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Movement Disorders
Dyskinesias
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Ocular Motility Disorders
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Neurologic Manifestations
Dyskinesias
Ataxia
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Dystonia
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Tremor
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Neurobehavioral Manifestations
Communication Disorders
Language Disorders
Speech Disorders
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Learning Disorders
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Intellectual Disability
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Paralysis
Facial Paralysis
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Seizures
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Otorhinolaryngologic Diseases
Pharyngeal Diseases
Deglutition Disorders
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Pathological Conditions, Signs and Symptoms
Pathologic Processes
Hyperbilirubinemia
Jaundice
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Signs and Symptoms
Mobility Limitation
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Respiratory Tract Diseases
Lung Diseases
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Respiration Disorders
Dyspnea
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Respiratory Tract Infections
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Psychiatry and Psychology
Behavior and Behavior Mechanisms
Behavior
Behavioral Symptoms
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Mental Disorders
Mental Disorders Diagnosed in Childhood
Developmental Disabilities
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Feeding and Eating Disorders of Childhood
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Motor Skills Disorders
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Intellectual Disability
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Learning Disorders
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
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