|
Loeys-Dietz syndrome Type 3 |
approved
|
613795 |
|
|
|
|
3-Hydroxyisobutryl-CoA Hydrolase Deficiency (HIBCHD) |
approved
|
250620 |
|
|
|
|
3-Methylcrotonyl-CoA Carboxylase 1 Deficiency; MCC1D |
approved
|
210200 |
|
|
|
|
3-Methylcrotonyl-CoA Carboxylase 2 Deficiency; MCC2D |
approved
|
210210 |
|
|
|
|
46XY Sex Reversal 6 (SRXY6) |
approved
|
613762 |
|
|
|
|
Aarskog-Scott Syndrome |
approved
|
305400 |
|
|
|
|
Abetalipoproteinemia (also known as aconthocytosis, microsomal triglyceride transfer protein deficiency and Bassen-Kornweig syndrome) |
approved
|
200100 |
|
|
|
|
Achondrogenesis Type 1a |
approved
|
200600 |
|
|
|
|
Achondrogenesis Type 1b |
approved
|
600972 |
|
|
|
|
Achondrogenesis Type 2 |
approved
|
200610 |
|
|
|
|
Achondroplasia (ACH) |
approved
|
100800 |
|
|
|
|
Achromatopsia 2 (ACHM2) |
approved
|
216900 |
|
|
|
|
Achromatopsia 3 (ACHM3) |
approved
|
262300 |
|
|
|
|
Achromatopsia 4 (ACHM4) |
approved
|
613856 |
|
|
|
|
Achromatopsia 5 (ACHM5) |
approved
|
613093 |
|
|
|
|
Achromatopsia 6 (ACHM6) (autosomal recessive only) |
approved
|
610024 |
|
|
|
|
Achromatopsia 7 (ACHM7) |
approved
|
616517 |
|
|
|
|
Acute Intermittent Porphyria (AIP) |
approved
|
176000 |
|
|
|
|
Acute Recurrent Autosomal Recessive Rhabdomyolysis |
approved
|
268200 |
|
|
|
|
Adams-Oliver Syndrome 1 (AOS1) |
approved
|
100300 |
|
|
|
