carnitine-acylcarnitine translocase deficiency

Summary

carnitine-acylcarnitine translocase deficiency is a rare disease^[1].

Key Facts

• carnitine-acylcarnitine translocase deficiency's instance of is recorded as rare disease^[2].
• carnitine-acylcarnitine translocase deficiency's instance of is recorded as class of disease^[3].
• carnitine-acylcarnitine translocase deficiency is a type of congenital disorder of amino acid metabolism^[4].
• carnitine-acylcarnitine translocase deficiency is a type of fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy^[5].
• carnitine-acylcarnitine translocase deficiency is a type of disorder of carnitine cycle and carnitine transport^[6].
• carnitine-acylcarnitine translocase deficiency is a type of autosomal recessive disease^[7].
• carnitine-acylcarnitine translocase deficiency is a type of lipid metabolism disorder^[8].
• carnitine-acylcarnitine translocase deficiency's NCI Thesaurus ID is recorded as C133086^[9].
• carnitine-acylcarnitine translocase deficiency's genetic association is recorded as SLC25A20^[10].
• carnitine-acylcarnitine translocase deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_159^[11].
• carnitine-acylcarnitine translocase deficiency's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111585^[12].
• carnitine-acylcarnitine translocase deficiency's exact match is recorded as http://identifiers.org/doid/DOID:0111585^[13].