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Submissions

hexosaminidase subunit beta

Summary

Gene Symbol

HEXB

Aliases

beta-hexosaminidase subunit beta

Organism

Homo sapiens (human)

External Links

NCBI Gene

3074

HGNC

4879

KEGG Gene ID

hsa:3074

PubChem

3074

Alliance of Genome Resources

HGNC:4879

Annotation

Keyword

3D-structure
Cytoplasmic vesicle
Direct protein sequencing
Disease variant
Disulfide bond
Gangliosidosis
Glycoprotein
Glycosidase
Hydrolase
Lipid metabolism
Lysosome
Neurodegeneration
Proteomics identification
Reference proteome
Signal
Zymogen

Proteins

Displaying **all 3** entries
UniProt	Protein Name
P07686	Beta-N-acetylhexosaminidase subunit beta Cervical cancer proto-oncogene 7 protein N-acetyl-beta-glucosaminidase subunit beta
A0A024RAJ6
Q5URX0	Beta-N-acetylhexosaminidase subunit beta N-acetyl-beta-glucosaminidase subunit beta

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 24 in total

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GO Term	Evidence Code	PMID
dermatan sulfate catabolic process	IEA
single fertilization	ISS
myelination	IEA
intracellular calcium ion homeostasis	IEA
hyaluronan catabolic process	IEA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

amide metabolic process [inference]

ceramide metabolic process [inference]

ganglioside metabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

organonitrogen compound metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process [inference]

glycosaminoglycan metabolic process

glycosaminoglycan catabolic process [inference]

mucopolysaccharide metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate catabolic process

dermatan sulfate metabolic process [inference]

dermatan sulfate catabolic process

hyaluronan metabolic process [inference]

hyaluronan catabolic process

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ganglioside metabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

glycosphingolipid metabolic process [inference]

ganglioside metabolic process [inference]

ganglioside catabolic process

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

organonitrogen compound catabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process [inference]

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

catabolic process [inference]

cellular catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

sulfur compound catabolic process [inference]

small molecule catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

monosaccharide catabolic process [inference]

dermatan sulfate catabolic process

organic substance catabolic process [inference]

macromolecule catabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process [inference]

lipid catabolic process [inference]

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

carbohydrate catabolic process [inference]

oligosaccharide catabolic process

monosaccharide catabolic process [inference]

dermatan sulfate catabolic process

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

carbohydrate derivative catabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

amino disaccharide catabolic process [inference]

dermatan sulfate catabolic process

organonitrogen compound catabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process [inference]

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

biosynthetic process [inference]

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

dermatan sulfate metabolic process [inference]

dermatan sulfate catabolic process

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

sulfur compound metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate catabolic process

dermatan sulfate metabolic process [inference]

dermatan sulfate catabolic process

sulfur compound catabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phospholipid metabolic process [inference]

phospholipid biosynthetic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

phospholipid biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process

cellular catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

sulfur compound catabolic process [inference]

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

ganglioside metabolic process [inference]

ganglioside catabolic process

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ganglioside metabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

glycosphingolipid metabolic process [inference]

ganglioside metabolic process [inference]

ganglioside catabolic process

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

phospholipid metabolic process [inference]

phospholipid biosynthetic process

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

primary metabolic process [inference]

carbohydrate metabolic process [inference]

monosaccharide metabolic process [inference]

dermatan sulfate metabolic process [inference]

dermatan sulfate catabolic process

monosaccharide catabolic process [inference]

dermatan sulfate catabolic process

oligosaccharide metabolic process [inference]

oligosaccharide catabolic process

carbohydrate catabolic process [inference]

oligosaccharide catabolic process

monosaccharide catabolic process [inference]

dermatan sulfate catabolic process

lipid metabolic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process

lipid catabolic process [inference]

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

ganglioside metabolic process [inference]

ganglioside catabolic process

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ganglioside metabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

glycosphingolipid metabolic process [inference]

ganglioside metabolic process [inference]

ganglioside catabolic process

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

phospholipid metabolic process [inference]

phospholipid biosynthetic process

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

liposaccharide metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

ganglioside metabolic process [inference]

ganglioside catabolic process

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

small molecule metabolic process [inference]

monosaccharide metabolic process [inference]

dermatan sulfate metabolic process [inference]

dermatan sulfate catabolic process

monosaccharide catabolic process [inference]

dermatan sulfate catabolic process

organic acid metabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

dermatan sulfate metabolic process [inference]

dermatan sulfate catabolic process

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

small molecule catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

monosaccharide catabolic process [inference]

dermatan sulfate catabolic process

organic substance metabolic process [inference]

carbohydrate metabolic process [inference]

monosaccharide metabolic process [inference]

dermatan sulfate metabolic process [inference]

dermatan sulfate catabolic process

monosaccharide catabolic process [inference]

dermatan sulfate catabolic process

oligosaccharide metabolic process [inference]

oligosaccharide catabolic process

carbohydrate catabolic process [inference]

oligosaccharide catabolic process

monosaccharide catabolic process [inference]

dermatan sulfate catabolic process

organic acid metabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

dermatan sulfate metabolic process [inference]

dermatan sulfate catabolic process

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

lipid metabolic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process

lipid catabolic process [inference]

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

ganglioside metabolic process [inference]

ganglioside catabolic process

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ganglioside metabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

glycosphingolipid metabolic process [inference]

ganglioside metabolic process [inference]

ganglioside catabolic process

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

phospholipid metabolic process [inference]

phospholipid biosynthetic process

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

liposaccharide metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

ganglioside metabolic process [inference]

ganglioside catabolic process

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

phospholipid biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process

macromolecule metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process [inference]

glycosaminoglycan metabolic process

glycosaminoglycan catabolic process [inference]

mucopolysaccharide metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate catabolic process

dermatan sulfate metabolic process [inference]

dermatan sulfate catabolic process

hyaluronan metabolic process [inference]

hyaluronan catabolic process

macromolecule catabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process [inference]

carbohydrate derivative metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process [inference]

glycosaminoglycan metabolic process

glycosaminoglycan catabolic process [inference]

mucopolysaccharide metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate catabolic process

dermatan sulfate metabolic process [inference]

dermatan sulfate catabolic process

hyaluronan metabolic process [inference]

hyaluronan catabolic process

amino disaccharide metabolic process [inference]

dermatan sulfate metabolic process [inference]

dermatan sulfate catabolic process

amino disaccharide catabolic process [inference]

dermatan sulfate catabolic process

carbohydrate derivative catabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

amino disaccharide catabolic process [inference]

dermatan sulfate catabolic process

liposaccharide metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

ganglioside metabolic process [inference]

ganglioside catabolic process

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

organonitrogen compound metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process [inference]

glycosaminoglycan metabolic process

glycosaminoglycan catabolic process [inference]

mucopolysaccharide metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate catabolic process

dermatan sulfate metabolic process [inference]

dermatan sulfate catabolic process

hyaluronan metabolic process [inference]

hyaluronan catabolic process

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ganglioside metabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

glycosphingolipid metabolic process [inference]

ganglioside metabolic process [inference]

ganglioside catabolic process

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

organonitrogen compound catabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process [inference]

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

organic substance catabolic process [inference]

macromolecule catabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process [inference]

lipid catabolic process [inference]

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

carbohydrate catabolic process [inference]

oligosaccharide catabolic process

monosaccharide catabolic process [inference]

dermatan sulfate catabolic process

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

carbohydrate derivative catabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

amino disaccharide catabolic process [inference]

dermatan sulfate catabolic process

organonitrogen compound catabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process [inference]

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process

cellular process [inference]

ensheathment of neurons [inference]

axon ensheathment [inference]

myelination

cellular process involved in reproduction in multicellular organism [inference]

germ cell development [inference]

oogenesis

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

dermatan sulfate metabolic process [inference]

dermatan sulfate catabolic process

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

sulfur compound metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate catabolic process

dermatan sulfate metabolic process [inference]

dermatan sulfate catabolic process

sulfur compound catabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phospholipid metabolic process [inference]

phospholipid biosynthetic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

phospholipid biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process

cellular catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

sulfur compound catabolic process [inference]

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

ganglioside metabolic process [inference]

ganglioside catabolic process

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ganglioside metabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

glycosphingolipid metabolic process [inference]

ganglioside metabolic process [inference]

ganglioside catabolic process

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

phospholipid metabolic process [inference]

phospholipid biosynthetic process

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

cellular developmental process [inference]

cell development [inference]

germ cell development [inference]

oogenesis

cell motility [inference]

cell migration [inference]

glial cell migration [inference]

astrocyte cell migration

maintenance of location in cell

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

vacuole organization [inference]

lytic vacuole organization [inference]

lysosome organization

reproductive process [inference]

developmental process involved in reproduction [inference]

germ cell development [inference]

oogenesis

fertilization [inference]

single fertilization

reproductive behavior [inference]

mating behavior [inference]

courtship behavior [inference]

male courtship behavior

male mating behavior [inference]

male courtship behavior

cellular process involved in reproduction in multicellular organism [inference]

germ cell development [inference]

oogenesis

multicellular organismal reproductive process [inference]

gamete generation [inference]

female gamete generation [inference]

oogenesis

penetration of zona pellucida

multicellular organismal process [inference]

system process [inference]

nervous system process [inference]

sensory perception [inference]

sensory perception of mechanical stimulus [inference]

sensory perception of sound

neuromuscular process [inference]

neuromuscular process controlling balance

behavior [inference]

locomotory behavior

reproductive behavior [inference]

mating behavior [inference]

courtship behavior [inference]

male courtship behavior

male mating behavior [inference]

male courtship behavior

multi-multicellular organism process [inference]

penetration of zona pellucida

developmental process [inference]

developmental process involved in reproduction [inference]

germ cell development [inference]

oogenesis

anatomical structure development [inference]

cell development [inference]

germ cell development [inference]

oogenesis

system development [inference]

skeletal system development

cellular developmental process [inference]

cell development [inference]

germ cell development [inference]

oogenesis

homeostatic process [inference]

cellular homeostasis [inference]

intracellular chemical homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

intracellular calcium ion homeostasis

neuron cellular homeostasis

chemical homeostasis [inference]

monoatomic ion homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

intracellular calcium ion homeostasis

monoatomic cation homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

intracellular calcium ion homeostasis

calcium ion homeostasis [inference]

intracellular calcium ion homeostasis

intracellular chemical homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

intracellular calcium ion homeostasis

inorganic ion homeostasis [inference]

calcium ion homeostasis [inference]

intracellular calcium ion homeostasis

localization [inference]

maintenance of location [inference]

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of nitrogen compound metabolic process [inference]

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of cellular metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of nitrogen compound metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of nitrogen compound metabolic process [inference]

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of primary metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of biological process [inference]

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of nitrogen compound metabolic process [inference]

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of cellular process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of developmental process [inference]

regulation of anatomical structure morphogenesis [inference]

regulation of cell morphogenesis [inference]

regulation of cell shape

regulation of cellular process [inference]

regulation of cellular metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of cellular process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of biological quality [inference]

regulation of cell shape

Displaying entries **6 - 10** of 10 in total

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GO Term	Evidence Code	PMID
extracellular exosome	HDA	23533145
acrosomal vesicle	IEA
lysosome	IBA
beta-N-acetylhexosaminidase complex	IPI ISS	16698036
azurophil granule lumen	TAS

GO Hierarchy

cellular component

protein-containing complex [inference]

catalytic complex [inference]

beta-N-acetylhexosaminidase complex

cellular anatomical entity [inference]

membrane-enclosed lumen [inference]

organelle lumen [inference]

vesicle lumen [inference]

cytoplasmic vesicle lumen [inference]

secretory granule lumen [inference]

azurophil granule lumen

intracellular organelle lumen [inference]

vacuolar lumen [inference]

cytoplasmic vesicle lumen [inference]

secretory granule lumen [inference]

azurophil granule lumen

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

secretory vesicle [inference]

secretory granule [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

vacuole [inference]

lytic vacuole [inference]

lysosome

primary lysosome [inference]

azurophil granule

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

secretory vesicle [inference]

secretory granule [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

vacuole [inference]

lytic vacuole [inference]

lysosome

primary lysosome [inference]

azurophil granule

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

secretory vesicle [inference]

secretory granule [inference]

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

Displaying **all 5** entries
GO Term	Evidence Code	PMID
beta-N-acetylhexosaminidase activity	IBA IDA TAS	8123671 8672428
N-acetyl-beta-D-galactosaminidase activity	IEA
acetylglucosaminyltransferase activity	IDA	25645918
protein binding	IPI	16698036 28514442 32296183 32814053
identical protein binding	IDA	6230359

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

UDP-glycosyltransferase activity [inference]

acetylglucosaminyltransferase activity

hexosyltransferase activity [inference]

acetylglucosaminyltransferase activity

hydrolase activity [inference]

hydrolase activity, acting on glycosyl bonds [inference]

hydrolase activity, hydrolyzing O-glycosyl compounds [inference]

hexosaminidase activity [inference]

beta-N-acetylhexosaminidase activity

N-acetyl-beta-D-galactosaminidase activity

binding [inference]

protein binding

identical protein binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000049860

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K12373

Name

hexosaminidase [EC:3.2.1.52]

References

7721787

Reactions

Displaying **all 2** entries
KEGG Reaction	Enzyme	Acceptor	Product
R05963	3.2.1.52	G00061MO	G00059MO
R06004	3.2.1.52	G79389NT	G91237TK

Disease

Disease Ontology

Displaying entries **1 - 10** of 55 in total

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DO ID	Disease Name	Source
DOID:0060193	amyotrophic lateral sclerosis type 1	DisGeNET
DOID:0060194	amyotrophic lateral sclerosis type 2	DisGeNET
DOID:0060196	amyotrophic lateral sclerosis type 4	DisGeNET
DOID:0060490	Schimke immuno-osseous dysplasia	DisGeNET
DOID:0111064	autosomal recessive distal hereditary motor neuronopathy 1	DisGeNET
DOID:0111154	postural orthostatic tachycardia syndrome	DisGeNET
DOID:11120	psychologic dyspareunia	DisGeNET
DOID:11155	hypohidrosis	DisGeNET
DOID:11156	anhidrosis	DisGeNET
DOID:11771	spontaneous ocular nystagmus	DisGeNET

The Human Phenotype Ontology

Displaying entries **51 - 60** of 77 in total

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HPO ID	HPO Term
HP:0003202	Skeletal muscle atrophy
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003390	Sensory axonal neuropathy
HP:0003394	Muscle spasm
HP:0003429	CNS hypomyelination
HP:0003484	Upper limb muscle weakness
HP:0003593	Infantile onset
HP:0003701	Proximal muscle weakness
HP:0003819	Death in childhood
HP:0004343	Abnormal glycosphingolipid metabolism

Displaying **all 4** entries
Disease ID	Disease Name
ORPHA:309155	Sandhoff disease, infantile form
OMIM:268800	Sandhoff disease
ORPHA:309162	Sandhoff disease, juvenile form
ORPHA:309169	Sandhoff disease, adult form