Human Phenotype Ontology 
Grandparent Node:
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Abnormal enzyme/coenzyme activity (HP:0012379)help
Parent Node:
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Abnormal biotinidase level (HP:0410144)help
..Starting node
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Decreased biotinidase level (HP:0410145)help
Term ID: 410145
Name: Decreased biotinidase level
Synonym:
Definition: A decrease in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.
Comments:
Reference: HP:0410145
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandIncreased biotinidase level (HP:0410146) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0410145HP:0410145Decreased biotinidase level0BTD CL E G H6861122ORPHA:79241Biotinidase deficiencyHP:0040281 - Very frequent223
HP:0410145HP:0410145Decreased biotinidase level0BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset223


Genes (1) :BTD

Diseases (2) :ORPHA:79241 OMIM:253260
 

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