Preferred Name |
acatalasia |
|
Synonyms |
deficiency of catalase |
|
Definitions |
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. |
|
ID |
http://purl.obolibrary.org/obo/DOID_2582 |
|
database_cross_reference |
OMIM:614097 SNOMEDCT_US_2023_03_01:190954001 MESH:D020642 UMLS_CUI:C0268419 GARD:363 NCI:C84526 ORDO:926 |
|
definition |
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. |
|
has exact synonym |
deficiency of catalase acatalasemia |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:2582 |
|
in_subset | ||
label |
acatalasia |
|
notation |
DOID:2582 |
|
prefLabel |
acatalasia |
|
subClassOf |
Create mapping