Lipid%20Metabolism%20Disorders
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Records Return:
(41)
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Description | Omim Number | Sample Count |
ABETALIPOPROTEINEMIA; ABL | 200100 | 3 |
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | 201450 | 13 |
ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD | 201470 | 4 |
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD | 201475 | 1 |
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD | 201475 | 4 |
APOLIPOPROTEIN C-II DEFICIENCY | 207750 | 1 |
CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP | 212140 | 4 |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED | 255110 | 2 |
CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY; CACTD | 212138 | 3 |
FABRY DISEASE | 301500 | 10 |
FARBER LIPOGRANULOMATOSIS; FRBRL | 228000 | 12 |
GAUCHER DISEASE, TYPE I; GD1 | 230800 | 10 |
GAUCHER DISEASE, TYPE II; GD2 | 230900 | 9 |
GAUCHER DISEASE, TYPE III; GD3 | 231000 | 4 |
GM1-GANGLIOSIDOSIS, TYPE I | 230500 | 7 |
GM1-GANGLIOSIDOSIS, TYPE II | 230600 | 1 |
GM2-GANGLIOSIDOSIS, AB VARIANT | 272750 | 2 |
HYPERCHOLESTEROLEMIA, FAMILIAL, 1; FHCL1 | 143890 | 27 |
HYPERCHOLESTEROLEMIA, FAMILIAL, 4; FHCL4 | 603813 | 5 |
HYPERLIPIDEMIA, FAMILIAL COMBINED, 3; FCHL3 | 144250 | 1 |
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