Description |
OMIM Number |
ABETALIPOPROTEINEMIA; ABL |
200100 |
ACYL-CoA DEHYDROGENASE LONG-CHAIN DEFICIENCY OF |
201460 |
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM |
201450 |
ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF |
201470 |
ACYL-CoA DEHYDROGENASE, SHORT/BRANCHED CHAIN; ACADSB |
600301 |
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF |
201475 |
APOLIPOPROTEIN C-II DEFICIENCY, TYPE I HYPERLIPOPROTEINEMIA DUE TO |
207750 |
CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP |
212140 |
CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY; CACTD |
212138 |
FABRY DISEASE |
301500 |
FARBER LIPOGRANULOMATOSIS |
228000 |
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I |
230500 |
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE II, OR JUVENILE TYPE |
230600 |
GAUCHER DISEASE, TYPE I |
230800 |
GAUCHER DISEASE, TYPE II |
230900 |
GAUCHER DISEASE, TYPE III |
231000 |
HYPERCHOLESTEROLEMIA FAMILIAL |
143890 |
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH |
603813 |
HYPERLIPIDEMIA, FAMILIAL COMBINED |
144250 |
HYPERLIPOPROTEINEMIA, TYPE I |
238600 |
KRABBE DISEASE |
245200 |
LIPASE DEFICIENCY COMBINED |
246650 |
LIPASE, CONGENITAL ABSENCE OF PANCREATIC |
246600 |
LIPOID PROTEINOSIS OF URBACH AND WIETHE |
247100 |
LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY |
609016 |
METACHROMATIC LEUKODYSTROPHY |
250100 |
MEVALONATE KINASE; MVK MEVALONICACIDURIA, INCLUDED |
251170 |
MULTIPLE SULFATASE DEFICIENCY |
272200 |
MYOPATHY WITH DEFICIENCY OF CARNITINE PALMITOYLTRANSFERASE II |
255110 |
NIEMANN-PICK DISEASE, TYPE A |
257200 |
NIEMANN-PICK DISEASE, TYPE B |
607616 |
NIEMANN-PICK DISEASE, TYPE C1 |
257220 |
NIEMANN-PICK DISEASE, TYPE C2 |
607625 |
REFSUM DISEASE |
266500 |
REFSUM DISEASE, INFANTILE FORM |
266510 |
SANDHOFF DISEASE |
268800 |
SEA-BLUE HISTIOCYTE DISEASE |
269600 |
SITOSTEROLEMIA |
210250 |
SJOGREN-LARSSON SYNDROME |
270200 |
TAY-SACHS DISEASE, AB VARIANT |
272750 |
TAY-SACHS DISEASE; TSD |
272800 |
TRIFUNCTIONAL PROTEIN DEFICIENCY |
609015 |
WOLMAN DISEASE |
278000 |