GGDonto

GGDonto: Genetic Glyco-Diseases Ontology

Legend:

Concept Types
- target (clinical findings)
- classification term
- pathway-based classification term
- clinical findings
- multiple types disease
- single disease
- disease type

Genetic disorders of glycan degradation

'Neurologic Manifestations' (Integration tree)

Pathogenesis

Genetic disorders of glycan degradation

Disorders by systems

Genetic disorders of glycan degradation (by systems, signs and symptoms)
- Diseases
  - Nervous System Diseases
    - Neurologic Manifestations
      - Dyskinesias
        Ataxia
        Aspartylglucosaminuria (GDGDB) [AGA]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Sialidosis (GDGDB) [NEU1]
        Galactosialidosis (GDGDB) [CTSA]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        
        Dystonia
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        
        Myoclonus
        Sialidosis (GDGDB) [NEU1]
        Galactosialidosis (GDGDB) [CTSA]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Farber Lipogranulomatosis, type 5 [ASAH1]
        
        Combined saposin deficiency (GDGDB) [PSAP]
        
        Tremor
        Sialidosis (GDGDB) [NEU1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        
        Hyperkinesis
        Combined saposin deficiency (GDGDB) [PSAP]
      - Gait Disorders, Neurologic
        Sialidosis (GDGDB) [NEU1]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
      - Neurobehavioral Manifestations
        Communication Disorders
        Language Disorders
        Speech Disorders
        Aspartylglucosaminuria (GDGDB) [AGA]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        Multiple sulfatase deficiency (GDGDB) [SUMF1]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Farber Lipogranulomatosis, type 5 [ASAH1]
        
        Learning Disorders
        Aspartylglucosaminuria (GDGDB) [AGA]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Schindler disease, type I (GDGDB) [NAGA]
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        
        Intellectual Disability
        Aspartylglucosaminuria (GDGDB) [AGA]
        Fucosidosis (GDGDB) [FUCA1]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Sialidosis (GDGDB) [NEU1]
        Sialidosis type II [NEU1]
        
        Schindler disease, type I (GDGDB) [NAGA]
        Schindler disease, type II (GDGDB) [NAGA]
        Galactosialidosis (GDGDB) [CTSA]
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        Fabry disease (GDGDB) [GLA]
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Gaucher disease, atypical, due to saposin C deficiency (GDGDB) [PSAP]
        Krabbe disease (GDGDB) [GALC]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Mental Retardation, X-Linked
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        
        Perceptual Disorders
        Hallucinations
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, adult form [ARSA]
      - Neuromuscular Manifestations
        Fasciculation
        Gaucher disease, type II (GDGDB) [GBA]
        Combined saposin deficiency (GDGDB) [PSAP]
        
        Muscle Hypertonia
        Muscle Rigidity
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        Krabbe disease, late-onset form [GALC]
        
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        
        Muscle Spasticity
        Fucosidosis (GDGDB) [FUCA1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        
        Muscle Hypotonia
        Beta-mannosidosis (GDGDB) [MANBA]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Combined saposin deficiency (GDGDB) [PSAP]
        Wolman disease (GDGDB) [LIPA]
        Pompe disease (GDGDB) [GAA]
        
        Muscle Weakness
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        Krabbe disease, late-onset form [GALC]
        
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Pompe disease (GDGDB) [GAA]
        
        Muscular Atrophy
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
      - Pain
        Musculoskeletal Pain
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Fabry disease (GDGDB) [GLA]
        Gaucher disease, type I (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Gaucher disease, type IIIC (GDGDB) [GBA]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
      - Paralysis
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Farber Lipogranulomatosis, type 5 [ASAH1]
        
        Facial Paralysis
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
      - Paresis
        Paraparesis
        Paraparesis, Spastic
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
      - Seizures
        Aspartylglucosaminuria (GDGDB) [AGA]
        Fucosidosis (GDGDB) [FUCA1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Sialidosis (GDGDB) [NEU1]
        Schindler disease, type I (GDGDB) [NAGA]
        Galactosialidosis (GDGDB) [CTSA]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        Krabbe disease, late-onset form [GALC]
        
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Farber Lipogranulomatosis, type 5 [ASAH1]
        
        Combined saposin deficiency (GDGDB) [PSAP]
      - Sensation Disorders
        Hearing Disorders
        Hearing Loss
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Sialidosis (GDGDB) [NEU1]
        Schindler disease, type II (GDGDB) [NAGA]
        Galactosialidosis (GDGDB) [CTSA]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Fabry disease (GDGDB) [GLA]
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        Krabbe disease, late-onset form [GALC]
        
        Multiple sulfatase deficiency (GDGDB) [SUMF1]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        
        Tinnitus
        Fabry disease (GDGDB) [GLA]
        
        Somatosensory Disorders
        Hypesthesia
        Beta-mannosidosis (GDGDB) [MANBA]
        Schindler disease, type II (GDGDB) [NAGA]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        
        Paresthesia
        Fabry disease (GDGDB) [GLA]
        
        Vision Disorders
        Blindness
        Schindler disease, type I (GDGDB) [NAGA]
        Galactosialidosis (GDGDB) [CTSA]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Krabbe disease (GDGDB) [GALC]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        
        Vision, Low
        Sialidosis (GDGDB) [NEU1]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Gaucher disease, type IIIC (GDGDB) [GBA]
  - Pathological Conditions, Signs and Symptoms
    - Signs and Symptoms
      - Neurologic Manifestations
        Sleep Disorders
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]

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