Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

ACATALASEMIA
Synonyms

CATALASE DEFICIENCY

ACATALASIA
ID

http://purl.bioontology.org/ontology/OMIM/614097
altLabel

CATALASE DEFICIENCY

ACATALASIA
cui

C0268419
Gene Locus

11p13
Gene Symbol

CAT
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

614097
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

ACATALASEMIA
tui

T047
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Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10086152 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10086151 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10086151 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D020642 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D6-95400 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/267454002 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10086152 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/267454002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MSHFRE/D020642 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10086152 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10086141 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10086141 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10086141 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10086151 MDRFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000004165 NDFRT CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84526 NCIT LOOM
http://purl.obolibrary.org/obo/OMIM_614097 CCO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Acatalasemia CSEO LOOM
http://identifiers.org/omim/614097 REXO LOOM
http://identifiers.org/omim/614097 GEXO LOOM
http://identifiers.org/omim/614097 RETO LOOM
http://purl.obolibrary.org/obo/NCIT_C84526 BERO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10086152 MEDDRA LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/267454002 SNOMEDCT LOOM
http://www.orpha.net/ORDO/Orphanet_926 ORDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_794 HRDO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15061 DERMLEX LOOM
http://nanbyodata.jp/ontology/NANDO_1200774 NANDO LOOM