Human Phenotype Ontology 
Grandparent Node:
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Abnormality of metabolism/homeostasis (HP:0001939)help
Parent Node:
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Abnormal enzyme/coenzyme activity (HP:0012379)help
..Starting node
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Abnormal biotinidase level (HP:0410144)help
Term ID: 410144
Name: Abnormal biotinidase level
Synonym:
Definition: An abnormality in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.
Comments:
Reference: HP:0410144
Genes and Diseases:
 
       Child Nodes:
........expandDecreased biotinidase activity (HP:0410145) help
........expandIncreased biotinidase activity (HP:0410146) help

 Sister Nodes: 
..expandAbnormal aldolase level (HP:0012400) help
..expandAbnormal erythrocyte enzyme level (HP:0030272) help
..expandAbnormal hypoxanthine-guanine phosphoribosyltransferase level (HP:0031821) help
..expandAbnormal lactate dehydrogenase level (HP:0045040) help
..expandAbnormal superoxide dismutase level (HP:0031835) help
..expandAbnormal uridine diphosphate glucose-4-epimerase level (HP:0410192) help
..expandAbnormality of alkaline phosphatase level (HP:0004379) help
..expandDecreased circulating lipoprotein lipase concentration (HP:0031209) help
..expandDecreased lecithin cholesterol acyl transferase level (HP:0025433) help
..expandDecreased small intestinal mucosa lactase level (HP:0025130) help
..expandElevated gamma-glutamyltransferase level (HP:0030948) help
..expandobsolete Abnormal serum tryptase concentration (HP:0031900) help
..expandPlatelet-activating factor acetylhydrolase deficiency (HP:0040175) help
..expandReduced carnitine O-palmitoyltransferase level (HP:0012380) help
..expandReduced catalase level (HP:0012517) help
..expandReduced lysosomal acid lipase activity (HP:0031205) 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:0410144HP:0410144Abnormal biotinidase level0BTD CL E G H6861122ORPHA:79241Biotinidase deficiency223
HP:0410144HP:0410144Abnormal biotinidase level0BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset223
HP:0410144HP:0410146Increased biotinidase level1 CL E G H
HP:0410144HP:0410145Decreased biotinidase level1BTD CL E G H6861122ORPHA:79241Biotinidase deficiencyHP:0040281 - Very frequent223
HP:0410144HP:0410145Decreased biotinidase level1BTD 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.