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

'Nervous System Diseases' (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
    - Central Nervous System Diseases
      - Brain Diseases
        Brain Diseases, Metabolic
        Brain Diseases, Metabolic, Inborn
        Aspartylglucosaminuria (GDGDB) [AGA]
        Fucosidosis (GDGDB) [FUCA1]
        Sialidosis (GDGDB) [NEU1]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        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]
        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]
        Multiple sulfatase deficiency (GDGDB) [SUMF1]
        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]
        
        Dementia
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        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]
        
        Intracranial Hypertension
        Hydrocephalus
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        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]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        
        Cerebrovascular Disorders
        Stroke
        Fabry disease (GDGDB) [GLA]
      - Movement Disorders
        Dyskinesias
        Aspartylglucosaminuria (GDGDB) [AGA]
        Fucosidosis (GDGDB) [FUCA1]
        Sialidosis (GDGDB) [NEU1]
        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]
        Gaucher disease, type II (GDGDB) [GBA]
        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]
        Combined saposin deficiency (GDGDB) [PSAP]
      - Spinal Cord Diseases
        Spinal Cord Compression
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
      - Ocular Motility Disorders
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Gaucher disease, type IIIC (GDGDB) [GBA]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        Combined saposin deficiency (GDGDB) [PSAP]
    - Demyelinating Diseases
      - Hereditary Central Nervous System Demyelinating Diseases
        Fucosidosis (GDGDB) [FUCA1]
        Hurler-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]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Tay-Sachs disease, infantile form [HEXA]
        
        Sandhoff disease (GDGDB) [HEXB]
        Sandhoff disease, infantile form [HEXB]
        
        Krabbe disease (GDGDB) [GALC]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Combined saposin deficiency (GDGDB) [PSAP]
    - Nervous System Malformations
      - Malformations of Cortical Development
        Combined saposin deficiency (GDGDB) [PSAP]
        Macrocephaly
        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]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        
        Microcephaly
        Aspartylglucosaminuria (GDGDB) [AGA]
    - Neurodegenerative Diseases
      - Heredodegenerative Disorders, Nervous System
        Schindler disease, type I (GDGDB) [NAGA]
        Schindler disease, type II (GDGDB) [NAGA]
        Combined saposin deficiency (GDGDB) [PSAP]
    - Neuromuscular Diseases
      - Peripheral Nervous System Diseases
        Mononeuropathies
        Median Neuropathy
        Carpal Tunnel Syndrome
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        
        Nerve Compression Syndromes
        Carpal Tunnel Syndrome
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        
        Beta-mannosidosis (GDGDB) [MANBA]
        Tay-Sachs disease (GDGDB) [HEXA]
        Fabry disease (GDGDB) [GLA]
        Krabbe disease (GDGDB) [GALC]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
    - Cranial Nerve 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]
    - 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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