Human Disease Ontology

Last uploaded: May 1, 2024
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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

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim
label

acatalasia
notation

DOID:2582
prefLabel

acatalasia
subClassOf

http://purl.obolibrary.org/obo/DOID_906
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_2582 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_2582 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_2582 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_2582 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_2582 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0013571 MONDO LOOM
http://www.ebi.ac.uk/efo/EFO_0004144 EFO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2582 NATPRO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10086151 MEDDRA LOOM
http://purl.obolibrary.org/obo/MONDO_0013571 DOVES LOOM
http://purl.jp/bio/4/id/200906052488964930 IOBC LOOM
http://purl.obolibrary.org/obo/DOID_2582 CLO LOOM
http://purl.obolibrary.org/obo/DOID_2582 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2582 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2582 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2582 FNS-H LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#26305 OCHV LOOM
http://purl.bioontology.org/ontology/MESH/D020642 MESH LOOM
http://purl.bioontology.org/ontology/SNMI/D6-95400 SNMI LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.663.025 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.663.025 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036700 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/RCTV2/C37y400 RCTV2 LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0268419 OCHV LOOM
http://purl.obolibrary.org/obo/OMIT_0020506 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D020642 RH-MESH LOOM
http://www.ebi.ac.uk/efo/EFO_0004144 EFO LOOM