Preferred Name

ACATALASEMIA

Synonyms

ACATALASIA

ID

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

altLabel

ACATALASIA

CATALASE DEFICIENCY

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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http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84526 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://www.orpha.net/ORDO/Orphanet_926 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/MESH/D020642 Medical Subject Headings / 医学主题词表 CUI