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 enzyme/coenzyme activity (HP:0012379)

Parent Node:
Abnormal biotinidase level (HP:0410144)

..Starting node
..Increased biotinidase level (HP:0410146)

Term ID:

410146

Name:

Increased biotinidase level

Synonym:

Definition:

An increase in biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.

Comments:

Reference:

HP:0410146

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased biotinidase level (HP:0410145)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0410146	HP:0410146	Increased biotinidase level	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.