Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of metabolism/homeostasis (HP:0001939)help
Parent Node:
expandAbnormal enzyme/coenzyme activity (HP:0012379)help
..Starting node
..expandReduced catalase level (HP:0012517)help
Term ID: 12517
Name: Reduced catalase level
Synonym:
Definition: An abnormally decreased amount of catalase level.
Comments:
Reference: HP:0012517
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal aldolase level (HP:0012400) help
..expandAbnormal biotinidase level (HP:0410144) 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 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:0012517HP:0012517Reduced catalase level0CAT CL E G H8471516OMIM:614097Acatalasemia5
HP:0012517HP:0012517Reduced catalase level0CAT CL E G H8471516ORPHA:926AcatalasemiaHP:0040281 - Very frequent5


Genes (1) :CAT

Diseases (2) :OMIM:614097 ORPHA:926
 

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