Carnitine palmitoyl transferase deficiency

Disease Term Disease ID Gene Symbol References
Carnitine palmitoyl transferase 1A deficiency C1829703, 156 CPT1A 12111367, 12189492, 27066452, 11350183, 15669684, 11441142, 9691089, 15363638, 11350182, 16146704, 20696606, 7892212, 7014807, 14517221, 21962599, 15110323, 16169268
Carnitine palmitoyl transferase 2 deficiency C0342790 CPT2 12410208, 2762996, 23184072, 27629963, 10862092, 14605500, 9309694, 9600456, 18363739, 9562964, 8358442, 10090476, 8786066, 24602495, 12560872, 12673791, 27974123, 8651281, 8682496, 20810031, 28516040, 16996287, 18550408, 28801073, 2647738, 1528846, 22899091, 16781677, 16615913, 9758712, 21709843, 7711730, 15642848, 17936304, 10398215, 24398345, 18306170, 15776096, 21913903, 26537576, 12707442, 16704352, 17372854, 28916721, 22652984, 25827434, 23700290, 15622536
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET C1833508 CPT2 10090476, 15622536, 16996287, 22854105, 8651281, 9600456, 18550408, 11477613, 18363739, 7711730, 21227726, 1528846, 10862092, 14605500, 10873395, 12673791, 23700290, 16615913, 15489334, 9758712, 8358442, 11855939, 16602102, 25919294, 14615409
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE C1833511 CPT2 8682496, 8651281, 14615409, 9758712, 15363638, 12673791, 21227726, 10090476, 8358442, 7711730, 10862092, 16615913, 11855939, 20810031, 22854105, 9562964, 22841441, 14605500, 20661589, 10398215, 1528846, 16996287, 23184072, 24398345, 20543534, 18363739, 27604308, 18645163, 12410208, 17936304, 23322164, 9600456, 18577113, 18550408, 25827434, 25919294, 15642848, 23700290, 21709843, 15622536, 18925671, 10734268, 24816252, 22975760, 21913903, 16602102
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL C1833518 CPT2 21227726, 16996287, 27604308, 11855939, 9600456, 16615913, 25919294, 24816252, 10862092, 22854105, 23700290, 12673791, 16602102, 18550408, 18363739
Carnitine palmitoyl transferase II deficiency, myopathic form 228302 CPT2
Carnitine palmitoyl transferase II deficiency, severe infantile form 228305 CPT2
Carnitine palmitoyl transferase II deficiency, neonatal form 228308 CPT2