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
'Neurobehavioral 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
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]
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