|
Primary Microcephaly 8 (MCPH8) |
approved
|
614673 |
|
|
|
|
Primary Microcephaly 9 (MCPH9) |
approved
|
614852 |
|
|
|
|
Prion disease with protracted course |
approved
|
606688 |
|
|
|
|
Progressive External Opthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 3 (PEOA3) |
approved
|
609286 |
|
|
|
|
Progressive Familial Intrahepatic Cholestasis Type 1 (PFIC1) |
approved
|
211600 |
|
|
Prolidase Deficiency |
approved
|
170100 |
|
|
|
|
Propionic Acidemia |
approved
|
606054 |
|
|
|
|
Pseudoachondroplasia |
approved
|
177170 |
|
|
|
|
Pseudohypoparathyroidism (PHP1a) |
approved
|
103580 |
|
|
|
|
Pseudo-TORCH syndrome-type 1 |
approved
|
251290 |
|
|
|
|
Pseudo-TORCH syndrome-type 2 |
approved
|
617397 |
|
|
|
|
Pseudovaginal Perineoscrotal Hypospadias due to 5-Alpha-Reductase Deficiency (insofar as that condition affects males, with simultaneous sex determination) |
approved
|
264600 |
|
|
|
|
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne Syndrome (PAPA) |
approved
|
604416 |
|
|
|
|
Pyrodoxine-dependent seizures (EPD) |
approved
|
266100 |
|
|
Pyruvate dehydrogenase E1-alpha deficiency X-linked |
approved
|
312170 |
|
|
|
|
Pyruvate Dehydrogenase E1-beta Deficiency |
approved
|
614111 |
|
|
Pyruvate Dehydrogenase, Alpha-1 (PDHA1) |
approved
|
312170 |
|
|
Radioulnar synostosis with amegakaryocytic thrombocytopenia type 1 (RUSAT1) |
approved
|
605432 |
|
|
|
|
Radioulnar synostosis with amegakaryocytic thrombocytopenia type 2 (RUSAT2) |
approved
|
616738 |
|
|
|
|
Rapp-Hodgkin Syndrome (RHS) |
approved
|
129400 |
|
|
|
