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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
peroxisomal disease +     
acatalasia  
A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13. (DO)
adrenoleukodystrophy +   
alpha-methylacyl-CoA racemase deficiency  
congenital bile acid synthesis defect 4  
D-bifunctional protein deficiency  
glutaric acidemia type 3  
infantile Refsum disease  
mevalonic aciduria  
Mitchell syndrome  
peroxisomal acyl-CoA oxidase deficiency  
peroxisomal biogenesis disorder +   
Refsum disease +   
retinal dystrophy with leukodystrophy  
rhizomelic chondrodysplasia punctata +   

Synonyms
Exact Synonyms: Acatalasemia ;   Acatalasemia Japanese Type ;   Acatalasemia Swiss Type ;   Catalase Deficiencies ;   Catalase Deficiency ;   Hypocatalasemia ;   Hypocatalasia ;   Takahara Disease ;   Takahara's Disease ;   Takaharas Disease ;   deficiency of catalase
Primary IDs: MESH:D020642
Alternate IDs: OMIA:001138 ;   OMIM:614097
Xrefs: EFO:0004144 ;   GARD:363 ;   NCI:C84526 ;   ORDO:926
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/1999334/ "DO" "DO"

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