Term ID: |
8166 |
Name: |
Decreased beta-galactosidase activity |
Synonym: |
Beta-galactosidase deficiency in fibroblasts and white blood cells; Beta-galactosidase-1 deficiency; Decreased beta galactosidase activity |
Definition: |
Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma. |
Comments: |
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Reference: |
HP:0008166 |
Genes and Diseases: | |
Child Nodes: |
Sister Nodes: |
Genes (2) :CTSA GLB1
Diseases (6) :OMIM:256540 ORPHA:79255 OMIM:230500 OMIM:230600 OMIM:230650 OMIM:253010 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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