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:
Abnormal glycosphingolipid metabolism (HP:0004343)

Parent Node:
Ganglioside accumulation (HP:0004345)

..Starting node
..Increased serum beta-hexosaminidase (HP:0003333)

Term ID:

3333

Name:

Increased serum beta-hexosaminidase

Synonym:

Definition:

Comments:

Reference:

HP:0003333

Genes and Diseases:

Child Nodes:

Sister Nodes:

GM2-ganglioside accumulation (HP:0003495)

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:0003333	HP:0003333	Increased serum beta-hexosaminidase	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0003333	HP:0003333	Increased serum beta-hexosaminidase	0	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta	.	240
HP:0003333	HP:0003333	Increased serum beta-hexosaminidase	0	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma	.	57

Genes (2) :GNPTAB GNPTG

Diseases (3) :OMIM:252500 OMIM:252600 OMIM:252605

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.