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 glycolipid metabolism (HP:0010969)

Parent Node:
Abnormal glycosphingolipid metabolism (HP:0004343)

..Starting node
..Abnormality of cerebrosidase metabolism (HP:0004344)

Term ID:

4344

Name:

Abnormality of cerebrosidase metabolism

Synonym:

Definition:

Comments:

Reference:

HP:0004344

Genes and Diseases:

Child Nodes:

........

Decreased beta-glucocerebrosidase protein and activity (HP:0003656)

Sister Nodes:

Ganglioside accumulation (HP:0004345)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004344	HP:0004344	Abnormality of cerebrosidase metabolism	0	CL E G H

Genes (0) :

Diseases (0) :

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