Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
Synonyms

CACTD
ID

http://purl.bioontology.org/ontology/OMIM/212138
altLabel

CACTD

CACT DEFICIENCY
cui

C0342791
Gene Locus

3p21.31
Gene Symbol

CACT

CAC

SLC25A20
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU036362

http://purl.bioontology.org/ontology/OMIM/MTHU041769

http://purl.bioontology.org/ontology/OMIM/MTHU029828

http://purl.bioontology.org/ontology/OMIM/MTHU041772

http://purl.bioontology.org/ontology/OMIM/MTHU041770

http://purl.bioontology.org/ontology/OMIM/MTHU000660

http://purl.bioontology.org/ontology/OMIM/MTHU026047

http://purl.bioontology.org/ontology/OMIM/MTHU036873

http://purl.bioontology.org/ontology/OMIM/MTHU041768

http://purl.bioontology.org/ontology/OMIM/MTHU012739

http://purl.bioontology.org/ontology/OMIM/MTHU041773

http://purl.bioontology.org/ontology/OMIM/MTHU041771

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU000780

http://purl.bioontology.org/ontology/OMIM/MTHU037248

http://purl.bioontology.org/ontology/OMIM/MTHU002540

http://purl.bioontology.org/ontology/OMIM/MTHU024897

http://purl.bioontology.org/ontology/OMIM/MTHU000730

http://purl.bioontology.org/ontology/OMIM/MTHU024633

http://purl.bioontology.org/ontology/OMIM/MTHU036852

http://purl.bioontology.org/ontology/OMIM/MTHU001654

http://purl.bioontology.org/ontology/OMIM/MTHU000197
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

212138
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
tui

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/PW_0002506 Pathway Ontology LOOM
http://purl.bioontology.org/ontology/LNC/LA12475-2 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/LNC/LA12475-2 Logical Observation Identifier Names and Codes LOOM
http://purl.obolibrary.org/obo/DOID_0111585 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/C562812 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C562812 Medical Subject Headings LOOM