GGDonto: Genetic Glyco-Diseases Ontology
Legend:
Concept Types
target (classification term)
classification term
pathway-based classification term
clinical findings
multiple types disease
single disease
disease type
'Genetic disorders of glycan degradation (by systems, signs and symptoms)'
Congenital, Hereditary, and Neonatal Diseases and Abnormalities related to Glycans
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lysosomal Storage Diseases
(degradation)
Hereditary disorders by systems
Genetic disorders of glycan degradation (by systems, signs and symptoms)
Diseases
Cardiovascular Diseases
Cardiovascular Abnormalities
Heart Defects, Congenital
Mucopolysaccharidosis II
(GDGDB)
[IDS]
Pompe disease
(GDGDB)
[GAA]
Pompe disease, infantile-onset form
[GAA]
Heart Diseases
Cardiomegaly
Schindler disease
Galactosialidosis
(GDGDB)
[CTSA]
Mucopolysaccharidosis II
(GDGDB)
[IDS]
GM1-gangliosidosis, type I
(GDGDB)
[GLB1]
GM1-gangliosidosis, type II
(GDGDB)
[GLB1]
GM1-gangliosidosis, type III
(GDGDB)
[GLB1]
Pompe disease
(GDGDB)
[GAA]
Pompe disease, infantile-onset form
[GAA]
Heart Failure
Mucopolysaccharidosis I
Mucopolysaccharidosis II
(GDGDB)
[IDS]
Mucopolysaccharidosis III
Mucopolysaccharidosis IV
Mucopolysaccharidosis VI
(GDGDB)
(GDGDB)
[ARSB]
Mucopolysaccharidosis VII
(GDGDB)
[GUSB]
Pompe disease
(GDGDB)
[GAA]
Pompe disease, infantile-onset form
[GAA]
Heart Valve Diseases
Galactosialidosis
(GDGDB)
[CTSA]
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Mucolipidosis III (alpha/beta)
(GDGDB)
[GNPTAB]
Hurler syndrome
(GDGDB)
[IDUA]
Hurler-Scheie syndrome
(GDGDB)
[IDUA]
Scheie syndrome
(GDGDB)
[IDUA]
Mucopolysaccharidosis II
(GDGDB)
[IDS]
Mucopolysaccharidosis III
Morquio syndrome A
(GDGDB)
[GALNS]
Morquio syndrome B
(GDGDB)
[GLB1]
Mucopolysaccharidosis VI
(GDGDB)
(GDGDB)
[ARSB]
Mucopolysaccharidosis VII
(GDGDB)
[GUSB]
Gaucher disease, type IIIC
(GDGDB)
[GBA]
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]
GM1-gangliosidosis, type I
(GDGDB)
[GLB1]
GM1-gangliosidosis, type II
(GDGDB)
[GLB1]
GM1-gangliosidosis, type III
(GDGDB)
[GLB1]
Gaucher disease, type IIIC
(GDGDB)
[GBA]
Pompe disease
(GDGDB)
[GAA]
Myocardial Ischemia
Coronary Disease
Coronary Artery Disease
Hurler syndrome
(GDGDB)
[IDUA]
Hurler-Scheie syndrome
(GDGDB)
[IDUA]
Scheie syndrome
(GDGDB)
[IDUA]
Mucopolysaccharidosis II
(GDGDB)
[IDS]
Mucopolysaccharidosis III
Mucopolysaccharidosis IV
Mucopolysaccharidosis VI
(GDGDB)
(GDGDB)
[ARSB]
Mucopolysaccharidosis VII
(GDGDB)
[GUSB]
Niemann-Pick disease, type B
(GDGDB)
[SMPD1]
Myocardial Infarction
Fabry disease
(GDGDB)
[GLA]
Vascular Diseases
Peripheral Vascular Diseases
Mucopolysaccharidosis I
Mucopolysaccharidosis II
(GDGDB)
[IDS]
Mucopolysaccharidosis III
Mucopolysaccharidosis IV
Mucopolysaccharidosis VI
(GDGDB)
(GDGDB)
[ARSB]
Mucopolysaccharidosis VII
(GDGDB)
[GUSB]
Cerebrovascular Disorders
Stroke
Fabry disease
(GDGDB)
[GLA]
Myocardial Ischemia
Coronary Disease
Coronary Artery Disease
Hurler syndrome
(GDGDB)
[IDUA]
Hurler-Scheie syndrome
(GDGDB)
[IDUA]
Scheie syndrome
(GDGDB)
[IDUA]
Mucopolysaccharidosis II
(GDGDB)
[IDS]
Mucopolysaccharidosis III
Mucopolysaccharidosis IV
Mucopolysaccharidosis VI
(GDGDB)
(GDGDB)
[ARSB]
Mucopolysaccharidosis VII
(GDGDB)
[GUSB]
Niemann-Pick disease, type B
(GDGDB)
[SMPD1]
Myocardial Infarction
Fabry disease
(GDGDB)
[GLA]
Digestive System Diseases
Gastrointestinal Diseases
Fabry disease
(GDGDB)
[GLA]
Liver Diseases
Hepatomegaly
Fucosidosis
(GDGDB)
[FUCA1]
Alpha-mannosidosis
(GDGDB)
[MAN2B1]
Sialidosis
(GDGDB)
[NEU1]
Schindler disease
Galactosialidosis
(GDGDB)
[CTSA]
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]
GM1-gangliosidosis, type I
(GDGDB)
[GLB1]
GM1-gangliosidosis, type II
(GDGDB)
[GLB1]
GM1-gangliosidosis, type III
(GDGDB)
[GLB1]
Sandhoff disease
(GDGDB)
[HEXB]
Gaucher disease, type I
(GDGDB)
[GBA]
Gaucher disease, type II
(GDGDB)
[GBA]
Gaucher disease, type III
(GDGDB)
[GBA]
Gaucher disease, type IIIC
(GDGDB)
[GBA]
Gaucher disease, atypical, due to saposin C deficiency
(GDGDB)
[PSAP]
Multiple sulfatase deficiency
(GDGDB)
[SUMF1]
Niemann-Pick disease, type A
(GDGDB)
[SMPD1]
Niemann-Pick disease, type B
(GDGDB)
[SMPD1]
Niemann-Pick disease, type C1
(GDGDB)
[NPC1]
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Farber Lipogranulomatosis
(GDGDB)
[ASAH1]
Combined saposin deficiency
(GDGDB)
[PSAP]
Wolman disease
(GDGDB)
[LIPA]
Pompe disease
(GDGDB)
[GAA]
Pompe disease, infantile-onset form
[GAA]
Niemann-Pick disease, type C1
(GDGDB)
[NPC1]
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Endocrine System Diseases
Adrenal Gland Diseases
Wolman disease
(GDGDB)
[LIPA]
Eye Diseases
Corneal Diseases
Corneal Opacity
Mucolipidosis III (alpha/beta)
(GDGDB)
[GNPTAB]
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]
Fabry disease
(GDGDB)
[GLA]
Gaucher disease, type IIIC
(GDGDB)
[GBA]
Eye Abnormalities
Gaucher disease, type IIIC
(GDGDB)
[GBA]
Lens Diseases
Cataract
Alpha-mannosidosis
(GDGDB)
[MAN2B1]
Ocular Hypertension
Glaucoma
Hurler syndrome
(GDGDB)
[IDUA]
Hurler-Scheie syndrome
(GDGDB)
[IDUA]
Scheie syndrome
(GDGDB)
[IDUA]
Retinal Diseases
Retinal Degeneration
Sialidosis
(GDGDB)
[NEU1]
Sialidosis type I
[NEU1]
Sialidosis type II
[NEU1]
Sialidosis type II, infantile form
[NEU1]
Sialidosis type II, juvenile form
[NEU1]
Galactosialidosis
(GDGDB)
[CTSA]
Hurler syndrome
(GDGDB)
[IDUA]
Mucopolysaccharidosis II
(GDGDB)
[IDS]
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]
Niemann-Pick disease, type A
(GDGDB)
[SMPD1]
Farber Lipogranulomatosis
(GDGDB)
[ASAH1]
Farber Lipogranulomatosis, type 1
[ASAH1]
Farber Lipogranulomatosis, type 5
[ASAH1]
Optic Nerve Diseases
Optic Atrophy
Optic Atrophies, Hereditary
Combined saposin deficiency
(GDGDB)
[PSAP]
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]
Female Urogenital Diseases and Pregnancy Complications
Female Urogenital Diseases
Urologic Diseases
Kidney Diseases
Galactosialidosis
(GDGDB)
[CTSA]
Fabry disease
(GDGDB)
[GLA]
Renal Insufficiency
Galactosialidosis
(GDGDB)
[CTSA]
Fabry disease
(GDGDB)
[GLA]
Hemic and Lymphatic Diseases
Hematologic Diseases
Anemia
Gaucher disease, type I
(GDGDB)
[GBA]
Gaucher disease, type II
(GDGDB)
[GBA]
Gaucher disease, type III
(GDGDB)
[GBA]
Wolman disease
(GDGDB)
[LIPA]
Blood Platelet Disorders
Thrombocytopenia
Gaucher disease, type I
(GDGDB)
[GBA]
Gaucher disease, type II
(GDGDB)
[GBA]
Gaucher disease, type III
(GDGDB)
[GBA]
Niemann-Pick disease, type B
(GDGDB)
[SMPD1]
Hemorrhagic Disorders
Gaucher disease, type I
(GDGDB)
[GBA]
Gaucher disease, type II
(GDGDB)
[GBA]
Gaucher disease, type III
(GDGDB)
[GBA]
Lymphatic Diseases
Histiocytosis
Niemann-Pick disease, type A
(GDGDB)
[SMPD1]
Niemann-Pick disease, type B
(GDGDB)
[SMPD1]
Niemann-Pick disease, type C
Splenic Diseases
Fucosidosis
(GDGDB)
[FUCA1]
Alpha-mannosidosis
(GDGDB)
[MAN2B1]
Sialidosis
(GDGDB)
[NEU1]
Schindler disease
Galactosialidosis
(GDGDB)
[CTSA]
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]
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]
Tay-Sachs disease, late-onset forms
[HEXA]
Sandhoff disease
(GDGDB)
[HEXB]
Gaucher disease, type I
(GDGDB)
[GBA]
Gaucher disease, type II
(GDGDB)
[GBA]
Gaucher disease, type III
(GDGDB)
[GBA]
Gaucher disease, type IIIC
(GDGDB)
[GBA]
Gaucher disease, atypical, due to saposin C deficiency
(GDGDB)
[PSAP]
Multiple sulfatase deficiency
(GDGDB)
[SUMF1]
Niemann-Pick disease, type A
(GDGDB)
[SMPD1]
Niemann-Pick disease, type B
(GDGDB)
[SMPD1]
Niemann-Pick disease, type C1
(GDGDB)
[NPC1]
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Farber Lipogranulomatosis
(GDGDB)
[ASAH1]
Combined saposin deficiency
(GDGDB)
[PSAP]
Wolman disease
(GDGDB)
[LIPA]
Male Urogenital Diseases
Urologic Diseases
Kidney Diseases
Galactosialidosis
(GDGDB)
[CTSA]
Fabry disease
(GDGDB)
[GLA]
Renal Insufficiency
Galactosialidosis
(GDGDB)
[CTSA]
Fabry disease
(GDGDB)
[GLA]
Musculoskeletal Diseases
Bone Diseases
Bone Diseases, Developmental
Dwarfism
Sialidosis
(GDGDB)
[NEU1]
Galactosialidosis
(GDGDB)
[CTSA]
Mucolipidosis III (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]
Niemann-Pick disease, type B
(GDGDB)
[SMPD1]
Dysostoses
Aspartylglucosaminuria
(GDGDB)
[AGA]
Fucosidosis
(GDGDB)
[FUCA1]
Alpha-mannosidosis
(GDGDB)
[MAN2B1]
Beta-mannosidosis
(GDGDB)
[MANBA]
Sialidosis
(GDGDB)
[NEU1]
Schindler disease
Galactosialidosis
(GDGDB)
[CTSA]
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Mucolipidosis III (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]
GM1-gangliosidosis, type I
(GDGDB)
[GLB1]
GM1-gangliosidosis, type II
(GDGDB)
[GLB1]
GM1-gangliosidosis, type III
(GDGDB)
[GLB1]
Sandhoff disease
(GDGDB)
[HEXB]
Bone Diseases, Metabolic
Mucolipidoses
Sialidosis
(GDGDB)
[NEU1]
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Mucolipidosis III (alpha/beta)
(GDGDB)
[GNPTAB]
Osteoporosis
Aspartylglucosaminuria
(GDGDB)
[AGA]
Alpha-mannosidosis
(GDGDB)
[MAN2B1]
Mucolipidosis III (alpha/beta)
(GDGDB)
[GNPTAB]
Gaucher disease, type I
(GDGDB)
[GBA]
Gaucher disease, type III
(GDGDB)
[GBA]
Gaucher disease, type IIIC
(GDGDB)
[GBA]
Spinal Diseases
Spinal Curvatures
Kyphosis
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Multiple sulfatase deficiency
(GDGDB)
[SUMF1]
Spinal Stenosis
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]
Aspartylglucosaminuria
(GDGDB)
[AGA]
Alpha-mannosidosis
(GDGDB)
[MAN2B1]
Galactosialidosis
(GDGDB)
[CTSA]
GM1-gangliosidosis, type I
(GDGDB)
[GLB1]
GM1-gangliosidosis, type II
(GDGDB)
[GLB1]
GM1-gangliosidosis, type III
(GDGDB)
[GLB1]
Joint Diseases
Arthritis
Gaucher disease, type I
(GDGDB)
[GBA]
Gaucher disease, type III
(GDGDB)
[GBA]
Gaucher disease, type IIIC
(GDGDB)
[GBA]
Farber Lipogranulomatosis
(GDGDB)
[ASAH1]
Contracture
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
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]
Farber Lipogranulomatosis
(GDGDB)
[ASAH1]
Aspartylglucosaminuria
(GDGDB)
[AGA]
Alpha-mannosidosis
(GDGDB)
[MAN2B1]
Mucolipidosis III (alpha/beta)
(GDGDB)
[GNPTAB]
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]
Musculoskeletal Abnormalities
Craniofacial Abnormalities
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]
Maxillofacial Abnormalities
Aspartylglucosaminuria
(GDGDB)
[AGA]
Fucosidosis
(GDGDB)
[FUCA1]
Alpha-mannosidosis
(GDGDB)
[MAN2B1]
Beta-mannosidosis
(GDGDB)
[MANBA]
Sialidosis
(GDGDB)
[NEU1]
Galactosialidosis
(GDGDB)
[CTSA]
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Mucolipidosis III (alpha/beta)
(GDGDB)
[GNPTAB]
Hurler syndrome
(GDGDB)
[IDUA]
Hurler-Scheie syndrome
(GDGDB)
[IDUA]
Scheie syndrome
(GDGDB)
[IDUA]
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]
GM1-gangliosidosis, type I
(GDGDB)
[GLB1]
GM1-gangliosidosis, type II
(GDGDB)
[GLB1]
GM1-gangliosidosis, type III
(GDGDB)
[GLB1]
Gaucher disease, type II
(GDGDB)
[GBA]
Gaucher disease, type II, perinatal lethal form
[GBA]
Multiple sulfatase deficiency
(GDGDB)
[SUMF1]
Microcephaly
Aspartylglucosaminuria
(GDGDB)
[AGA]
Hip Dislocation, Congenital
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Limb Deformities, Congenital
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Alpha-mannosidosis
(GDGDB)
[MAN2B1]
Morquio syndrome A
(GDGDB)
[GALNS]
Morquio syndrome B
(GDGDB)
[GLB1]
GM1-gangliosidosis, type I
(GDGDB)
[GLB1]
GM1-gangliosidosis, type II
(GDGDB)
[GLB1]
GM1-gangliosidosis, type III
(GDGDB)
[GLB1]
Sandhoff disease
(GDGDB)
[HEXB]
Gaucher disease, type I
(GDGDB)
[GBA]
Gaucher disease, type III
(GDGDB)
[GBA]
Gaucher disease, type IIIC
(GDGDB)
[GBA]
Multiple sulfatase deficiency
(GDGDB)
[SUMF1]
Muscular Diseases
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 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]
Neoplasms
Neoplasms by Histologic Type
Neoplasms, Vascular Tissue
Angiokeratoma
Fucosidosis
(GDGDB)
[FUCA1]
Beta-mannosidosis
(GDGDB)
[MANBA]
Sialidosis
(GDGDB)
[NEU1]
Schindler disease, type II
(GDGDB)
[NAGA]
Galactosialidosis
(GDGDB)
[CTSA]
Fabry disease
(GDGDB)
[GLA]
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]
Otorhinolaryngologic Diseases
Ear Diseases
Labyrinth Diseases
Schindler disease, type II
(GDGDB)
[NAGA]
Otitis
Alpha-mannosidosis
(GDGDB)
[MAN2B1]
Beta-mannosidosis
(GDGDB)
[MANBA]
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Mucolipidosis III (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]
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]
Multiple sulfatase deficiency
(GDGDB)
[SUMF1]
Metachromatic leukodystrophy
(GDGDB)
[ARSA]
Metachromatic leukodystrophy, due to saposin B deficiency
(GDGDB)
[PSAP]
Tinnitus
Pharyngeal Diseases
Deglutition Disorders
Beta-mannosidosis
(GDGDB)
[MANBA]
Gaucher disease, type II
(GDGDB)
[GBA]
Krabbe disease
(GDGDB)
[GALC]
Niemann-Pick disease, type C1
(GDGDB)
[NPC1]
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Pathological Conditions, Signs and Symptoms
Pathologic Processes
Growth Disorders
Niemann-Pick disease, type A
(GDGDB)
[SMPD1]
Niemann-Pick disease, type B
(GDGDB)
[SMPD1]
Wolman disease
(GDGDB)
[LIPA]
Pompe disease
(GDGDB)
[GAA]
Pompe disease, infantile-onset form
[GAA]
Hyperbilirubinemia
Jaundice
Niemann-Pick disease, type A
(GDGDB)
[SMPD1]
Niemann-Pick disease, type C1
(GDGDB)
[NPC1]
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Wolman disease
(GDGDB)
[LIPA]
Pathological Conditions, Anatomical
Hernia
Hernia, Abdominal
Hernia, Inguinal
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]
Hernia, Ventral
Hernia, Umbilical
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]
Signs and Symptoms
Body Temperature Changes
Fever
Krabbe disease
(GDGDB)
[GALC]
Krabbe disease, infantile form
[GALC]
Edema
Hydrops Fetalis
Sialidosis
(GDGDB)
[NEU1]
Galactosialidosis
(GDGDB)
[CTSA]
Mucopolysaccharidosis VII
(GDGDB)
[GUSB]
Gaucher disease, type II
(GDGDB)
[GBA]
Gaucher disease, type II, perinatal lethal form
[GBA]
Mobility Limitation
Aspartylglucosaminuria
(GDGDB)
[AGA]
Fucosidosis
(GDGDB)
[FUCA1]
Alpha-mannosidosis
(GDGDB)
[MAN2B1]
Sialidosis
(GDGDB)
[NEU1]
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Mucolipidosis III (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]
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]
Farber Lipogranulomatosis, type 5
[ASAH1]
Pompe disease
(GDGDB)
[GAA]
Signs and Symptoms, Digestive
Constipation
Hurler syndrome
(GDGDB)
[IDUA]
Hurler-Scheie syndrome
(GDGDB)
[IDUA]
Scheie syndrome
(GDGDB)
[IDUA]
Diarrhea
Aspartylglucosaminuria
(GDGDB)
[AGA]
Hurler syndrome
(GDGDB)
[IDUA]
Hurler-Scheie syndrome
(GDGDB)
[IDUA]
Scheie syndrome
(GDGDB)
[IDUA]
Sanfilippo syndrome A
(GDGDB)
[SGSH]
Sanfilippo syndrome B
(GDGDB)
[NAGLU]
Sanfilippo syndrome C
(GDGDB)
[HGSNAT]
Sanfilippo syndrome D
(GDGDB)
[GNS]
Wolman disease
(GDGDB)
[LIPA]
Vomiting
Niemann-Pick disease, type A
(GDGDB)
[SMPD1]
Wolman disease
(GDGDB)
[LIPA]
Urological Manifestations
Lower Urinary Tract Symptoms
Urinary Incontinence
Metachromatic leukodystrophy
(GDGDB)
[ARSA]
Metachromatic leukodystrophy, due to saposin B deficiency
(GDGDB)
[PSAP]
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]
Respiratory Tract Diseases
Lung Diseases
Hurler syndrome
(GDGDB)
[IDUA]
Hurler-Scheie syndrome
(GDGDB)
[IDUA]
Scheie syndrome
(GDGDB)
[IDUA]
Gaucher disease, type I
(GDGDB)
[GBA]
Gaucher disease, type II
(GDGDB)
[GBA]
Gaucher disease, type III
(GDGDB)
[GBA]
Niemann-Pick disease, type A
(GDGDB)
[SMPD1]
Niemann-Pick disease, type B
(GDGDB)
[SMPD1]
Niemann-Pick disease, type C1
(GDGDB)
[NPC1]
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Farber Lipogranulomatosis
(GDGDB)
[ASAH1]
Farber Lipogranulomatosis, type 1
[ASAH1]
Farber Lipogranulomatosis, type 4
[ASAH1]
Pompe disease
(GDGDB)
[GAA]
Respiration Disorders
Apnea
Sleep Apnea Syndromes
Sleep Apnea, Obstructive
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]
Dyspnea
Gaucher disease, type II
(GDGDB)
[GBA]
Krabbe disease
(GDGDB)
[GALC]
Krabbe disease, infantile form
[GALC]
Niemann-Pick disease, type C1
(GDGDB)
[NPC1]
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Farber Lipogranulomatosis
(GDGDB)
[ASAH1]
Pompe disease
(GDGDB)
[GAA]
Hoarseness
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Hurler syndrome
(GDGDB)
[IDUA]
Hurler-Scheie syndrome
(GDGDB)
[IDUA]
Scheie syndrome
(GDGDB)
[IDUA]
Mucopolysaccharidosis II
(GDGDB)
[IDS]
Farber Lipogranulomatosis
(GDGDB)
[ASAH1]
Respiratory Insufficiency
Airway Obstruction
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
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]
Krabbe disease
(GDGDB)
[GALC]
Krabbe disease, infantile form
[GALC]
Combined saposin deficiency
(GDGDB)
[PSAP]
Pompe disease
(GDGDB)
[GAA]
Respiratory Tract Infections
Aspartylglucosaminuria
(GDGDB)
[AGA]
Fucosidosis
(GDGDB)
[FUCA1]
Alpha-mannosidosis
(GDGDB)
[MAN2B1]
Beta-mannosidosis
(GDGDB)
[MANBA]
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Mucolipidosis III (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]
Niemann-Pick disease, type A
(GDGDB)
[SMPD1]
Niemann-Pick disease, type B
(GDGDB)
[SMPD1]
Niemann-Pick disease, type C1
(GDGDB)
[NPC1]
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Combined saposin deficiency
(GDGDB)
[PSAP]
Pompe disease
(GDGDB)
[GAA]
Skin and Connective Tissue Diseases
Connective Tissue Diseases
Cutis Laxa
Aspartylglucosaminuria
(GDGDB)
[AGA]
Mucinoses
Hurler syndrome
(GDGDB)
[IDUA]
Hurler-Scheie syndrome
(GDGDB)
[IDUA]
Scheie syndrome
(GDGDB)
[IDUA]
Mucopolysaccharidosis II
(GDGDB)
[IDS]
Mucopolysaccharidosis III
Mucopolysaccharidosis IV
Mucopolysaccharidosis VI
(GDGDB)
(GDGDB)
[ARSB]
Mucopolysaccharidosis VII
(GDGDB)
[GUSB]
Skin Diseases
Skin Abnormalities
Ichthyosis
Gaucher disease, type II
(GDGDB)
[GBA]
Gaucher disease, type II, perinatal lethal form
[GBA]
Multiple sulfatase deficiency
(GDGDB)
[SUMF1]
Gaucher disease, type II
(GDGDB)
[GBA]
Gaucher disease, type II, perinatal lethal form
[GBA]
Sweat Gland Diseases
Hypohidrosis
Fabry disease
(GDGDB)
[GLA]
Fabry disease
(GDGDB)
[GLA]
Stomatognathic Diseases
Mouth Diseases
Periodontal Diseases
Gingival Diseases
Gingival Overgrowth
Gingival Hyperplasia
Alpha-mannosidosis
(GDGDB)
[MAN2B1]
Sialidosis
(GDGDB)
[NEU1]
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
GM1-gangliosidosis, type I
(GDGDB)
[GLB1]
GM1-gangliosidosis, type II
(GDGDB)
[GLB1]
GM1-gangliosidosis, type III
(GDGDB)
[GLB1]
Tongue Diseases
Macroglossia
Alpha-mannosidosis
(GDGDB)
[MAN2B1]
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]
Pompe disease
(GDGDB)
[GAA]
Pompe disease, infantile-onset form
[GAA]
Stomatognathic System Abnormalities
Maxillofacial Abnormalities
Aspartylglucosaminuria
(GDGDB)
[AGA]
Fucosidosis
(GDGDB)
[FUCA1]
Alpha-mannosidosis
(GDGDB)
[MAN2B1]
Beta-mannosidosis
(GDGDB)
[MANBA]
Sialidosis
(GDGDB)
[NEU1]
Galactosialidosis
(GDGDB)
[CTSA]
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Mucolipidosis III (alpha/beta)
(GDGDB)
[GNPTAB]
Hurler syndrome
(GDGDB)
[IDUA]
Hurler-Scheie syndrome
(GDGDB)
[IDUA]
Scheie syndrome
(GDGDB)
[IDUA]
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]
GM1-gangliosidosis, type I
(GDGDB)
[GLB1]
GM1-gangliosidosis, type II
(GDGDB)
[GLB1]
GM1-gangliosidosis, type III
(GDGDB)
[GLB1]
Gaucher disease, type II
(GDGDB)
[GBA]
Gaucher disease, type II, perinatal lethal form
[GBA]
Multiple sulfatase deficiency
(GDGDB)
[SUMF1]
Psychiatry and Psychology
Behavior and Behavior Mechanisms
Behavior
Behavioral Symptoms
Child Reactive Disorders
Beta-mannosidosis
(GDGDB)
[MANBA]
Delusions
Metachromatic leukodystrophy
(GDGDB)
[ARSA]
Metachromatic leukodystrophy, adult form
[ARSA]
Depression
Alpha-mannosidosis
(GDGDB)
[MAN2B1]
Beta-mannosidosis
(GDGDB)
[MANBA]
Aspartylglucosaminuria
(GDGDB)
[AGA]
Alpha-mannosidosis
(GDGDB)
[MAN2B1]
Beta-mannosidosis
(GDGDB)
[MANBA]
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]
Mental Disorders
Mental Disorders Diagnosed in Childhood
Anxiety, Separation
Alpha-mannosidosis
(GDGDB)
[MAN2B1]
Child Behavior Disorders
Alpha-mannosidosis
(GDGDB)
[MAN2B1]
Schindler disease
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]
Developmental Disabilities
Aspartylglucosaminuria
(GDGDB)
[AGA]
Schindler disease, type I
(GDGDB)
[NAGA]
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Hurler syndrome
(GDGDB)
[IDUA]
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]
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]
Gaucher disease, type II
(GDGDB)
[GBA]
Krabbe disease
(GDGDB)
[GALC]
Krabbe disease, infantile form
[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]
Wolman disease
(GDGDB)
[LIPA]
Feeding and Eating Disorders of Childhood
Krabbe disease
(GDGDB)
[GALC]
Krabbe disease, infantile form
[GALC]
Metachromatic leukodystrophy
(GDGDB)
[ARSA]
Metachromatic leukodystrophy, infantile form
[ARSA]
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]
Pompe disease
(GDGDB)
[GAA]
Pompe disease, infantile-onset form
[GAA]
Motor Skills Disorders
Aspartylglucosaminuria
(GDGDB)
[AGA]
Fucosidosis
(GDGDB)
[FUCA1]
Alpha-mannosidosis
(GDGDB)
[MAN2B1]
Beta-mannosidosis
(GDGDB)
[MANBA]
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Tay-Sachs disease
(GDGDB)
[HEXA]
Sandhoff disease
(GDGDB)
[HEXB]
GM2-gangliosidosis, AB variant
(GDGDB)
[GM2A]
Gaucher disease, type II
(GDGDB)
[GBA]
Krabbe disease
(GDGDB)
[GALC]
Krabbe disease, infantile 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]
Tay-Sachs disease
(GDGDB)
[HEXA]
Sandhoff disease
(GDGDB)
[HEXB]
Communication Disorders
Metachromatic leukodystrophy
(GDGDB)
[ARSA]
Metachromatic leukodystrophy, due to saposin B deficiency
(GDGDB)
[PSAP]
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]
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]
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