Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of glycoside metabolism (HP:0003649)

Parent Node:
Abnormality of galactoside metabolism (HP:0004342)

..Starting node
..Decreased beta-galactosidase activity (HP:0008166)

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:

Reference:

HP:0008166

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008166	HP:0008166	Decreased beta-galactosidase activity	0	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis	.	51
HP:0008166	HP:0008166	Decreased beta-galactosidase activity	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040280 - Obligate	120
HP:0008166	HP:0008166	Decreased beta-galactosidase activity	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I	.	120
HP:0008166	HP:0008166	Decreased beta-galactosidase activity	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II	.	120
HP:0008166	HP:0008166	Decreased beta-galactosidase activity	0	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III	.	120
HP:0008166	HP:0008166	Decreased beta-galactosidase activity	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120

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.