Pathway Ontology

Last uploaded: January 13, 2022
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Preferred Name

carnitine-acylcarnitine translocase deficiency
Synonyms

SMP:00517
Definitions

A rare autosomal recessive condition resulting from alteration in long-fatty acid oxidation and due to defects in the SLC25A20 gene.
ID

http://purl.obolibrary.org/obo/PW_0002506
created_by

VPetri
creation_date

2016-02-12T08:39:07Z
definition

A rare autosomal recessive condition resulting from alteration in long-fatty acid oxidation and due to defects in the SLC25A20 gene.
has_obo_namespace

pathway
has_related_synonym

SMP:00517
id

PW:0002506
label

carnitine-acylcarnitine translocase deficiency
notation

PW:0002506
prefLabel

carnitine-acylcarnitine translocase deficiency
treeView

http://purl.obolibrary.org/obo/PW_0001643
subClassOf

http://purl.obolibrary.org/obo/PW_0001643
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/212138 Online Mendelian Inheritance in Man LOOM
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 LOOM