|
Loeys-Dietz syndrome Type 3 |
approved
|
613795 |
|
|
|
|
3-Hydroxyisobutryl-CoA Hydrolase Deficiency (HIBCHD) |
approved
|
250620 |
|
|
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 |
|
|
|
|
Acute Intermittent Porphyria (AIP) |
approved
|
176000 |
|
|
Acute Recurrent Autosomal Recessive Rhabdomyolysis |
approved
|
268200 |
|
|
Adenylosuccinate lyase deficiency (ADSLD) |
approved
|
103050 |
|
|
|
|
Adrenal Insufficiency Congenital, with 46, XY sex reversal, partial or complete |
approved
|
613743 |
|
|
|
|
Adrenoleukodystrophy (Adrenomyeloneuropathy) (ALD) |
approved
|
300100 |
|
|
Adult Syndrome |
approved
|
103285 |
|
|
|
|
Adult-onset vitelliform macular dystrophy |
approved
|
153700 |
|
|
|
|
Agammaglobulinaemia (x-linked) |
approved
|
300755 |
|
|
Agammaglobulinemia and isolated hormone deficiency |
approved
|
307200 |
|
|
Aicardi Goutieres syndrome Types 2, 3, 4, 5 and 6 |
approved
|
610181, 610329, 610333, 612952, 615010 |
|
|
|
|
Aicardi-Goutieres Syndrome 1 (AGS1) |
approved
|
225750 |
|
