Experimental Factor Ontology

Last uploaded: December 16, 2024
Jump to:
Preferred Name

acatalasia
Synonyms

deficiency of catalase

catalase deficiency

acatalasemia

acatalasia
Definitions

Acatalasia is an autosomal recessive peroxisomal disorder caused by a complete lack of catalase. The disorder is relatively benign, although it causes an increased incidence of periodontal infections, and can under rare circumstances lead to gangrene. A congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide.
ID

http://www.ebi.ac.uk/efo/EFO_0004144
curated_content_resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0013571
database_cross_reference

NANDO:1200774

OMIM:115500

OMIM:614097

Orphanet:926

SCTID:124202004

NCIT:C84526

MESH:D020642

MEDGEN:75679

MONDO:0013571

UMLS:C0268419

MeSH:D020642

DOID:2582

GARD:363

HGNC:1516

ICD9:277.6
definition

Acatalasia is an autosomal recessive peroxisomal disorder caused by a complete lack of catalase. The disorder is relatively benign, although it causes an increased incidence of periodontal infections, and can under rare circumstances lead to gangrene.

A congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide.
definition_citation

web:http://en.wikipedia.org/wiki/Acatalasia
exactMatch

http://identifiers.org/medgen/75679

http://purl.obolibrary.org/obo/DOID_2582

http://linkedlifedata.com/resource/umls/id/C0268419

http://identifiers.org/mesh/D020642

http://purl.obolibrary.org/obo/NCIT_C84526

http://www.orpha.net/ORDO/Orphanet_926

http://identifiers.org/snomedct/124202004

https://omim.org/entry/614097

http://www.ebi.ac.uk/efo/EFO_0004144
has_exact_synonym

deficiency of catalase

catalase deficiency

acatalasemia

acatalasia
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/2632
id

EFO:0004144
in_subset

http://purl.obolibrary.org/obo/mondo#ordo_disorder

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#orphanet_rare

http://purl.obolibrary.org/obo/mondo#otar

http://purl.obolibrary.org/obo/mondo#clingen

http://purl.obolibrary.org/obo/mondo#gard_rare
label

acatalasia
notation

EFO:0004144
preferred label

acatalasia
prefLabel

acatalasia
excluded_subClassOf

http://purl.obolibrary.org/obo/MONDO_0017753
subClassOf

http://purl.obolibrary.org/obo/MONDO_0100306
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping