GAUCHER DISEASE, TYPE I

GAUCHER DISEASE, NONCEREBRAL JUVENILE

http://purl.bioontology.org/ontology/OMIM/230800

GAUCHER DISEASE, NONCEREBRAL JUVENILE

GBA DEFICIENCY

ACID BETA-GLUCOSIDASE DEFICIENCY

GD1

GLUCOCEREBROSIDASE DEFICIENCY

GD I

C1961835

1q21

GBA

http://purl.bioontology.org/ontology/OMIM/MTHU001744

http://purl.bioontology.org/ontology/OMIM/MTHU012844

http://purl.bioontology.org/ontology/OMIM/MTHU012837

http://purl.bioontology.org/ontology/OMIM/MTHU012845

http://purl.bioontology.org/ontology/OMIM/MTHU002225

http://purl.bioontology.org/ontology/OMIM/MTHU012839

http://purl.bioontology.org/ontology/OMIM/MTHU001136

http://purl.bioontology.org/ontology/OMIM/MTHU005592

http://purl.bioontology.org/ontology/OMIM/MTHU012840

http://purl.bioontology.org/ontology/OMIM/MTHU012843

http://purl.bioontology.org/ontology/OMIM/MTHU012846

http://purl.bioontology.org/ontology/OMIM/MTHU012852

http://purl.bioontology.org/ontology/OMIM/MTHU012834

http://purl.bioontology.org/ontology/OMIM/MTHU037461

http://purl.bioontology.org/ontology/OMIM/MTHU000212

http://purl.bioontology.org/ontology/OMIM/MTHU012842

http://purl.bioontology.org/ontology/OMIM/MTHU012849

http://purl.bioontology.org/ontology/OMIM/MTHU012838

http://purl.bioontology.org/ontology/OMIM/MTHU012836

http://purl.bioontology.org/ontology/OMIM/MTHU037132

http://purl.bioontology.org/ontology/OMIM/MTHU036367

http://purl.bioontology.org/ontology/OMIM/MTHU067604

http://purl.bioontology.org/ontology/OMIM/MTHU012835

http://purl.bioontology.org/ontology/OMIM/MTHU012853

http://purl.bioontology.org/ontology/OMIM/MTHU012841

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU012847

http://purl.bioontology.org/ontology/OMIM/MTHU036683

http://purl.bioontology.org/ontology/OMIM/MTHU012848

http://purl.bioontology.org/ontology/OMIM/MTHU036809

http://purl.bioontology.org/ontology/OMIM/MTHU002606

Phenotype description, molecular basis known.

138035

230800

3

pound

GAUCHER DISEASE, TYPE I

Age at onset most often in childhood (first decade) [MISCELLANEOUS]

Increased frequency in Ashkenazi Jews (carrier frequency 1 in 14) [MISCELLANEOUS]

Highly variable phenotype, some adults may be asymptomatic [MISCELLANEOUS]

Onset and diagnosis may occur later (after age 20 years) [MISCELLANEOUS]

Caused by mutation in the acid beta glucosidase gene (GBA, 606463.0001) [MOLECULAR BASIS]

T047