|
Pituitary Adenoma Type 5 |
approved
|
617540 |
|
|
|
|
Pleuropulmonary Blastoma Familial Tumor Predisposition Syndrome |
approved
|
601200 |
|
|
|
|
Polycystic kidney disease (PKD4) |
approved
|
263200 |
|
|
Polycystic Kidney Disease- type 2 (PKD2) |
approved
|
613095 |
|
|
|
|
Polycystic Kidney Disease-type 3 (PKD3) |
approved
|
600666 |
|
|
|
|
Polycystic Kidney Disease-type 5 (PKD5) |
approved
|
617610 |
|
|
|
|
Polycystic Kidney Disease-type 6 (PKD6) |
approved
|
618061 |
|
|
|
|
Polymicrogyria in association with homozygous/compound heterozygous ATP1A2 variants (autosomal recessive) |
approved
|
*182340 |
|
|
|
|
Pontocerebellar Hypoplasia type 1a, type 2a, type 2b, type 2c, type 2d , type 3, type 4, type 6 |
approved
|
607596, 277470, 612389, 612390, 613811, 608027, 225753, 611523 |
|
|
|
|
Pontocerebellar Hypoplasia type 1B (PCH1B) |
approved
|
614678 |
|
|
|
|
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal |
approved
|
618810 |
|
|
|
|
Popliteal Pterigum Syndrome (PPS) |
approved
|
119500 |
|
|
|
|
Porencephaly 1 |
approved
|
175780 |
|
|
|
|
Prader Willi Syndrome (PWS) |
approved
|
176270 |
|
|
Primary Ciliary Dyskinesia Type 1 (CILD1 |
approved
|
244400 |
|
|
|
|
Primary Ciliary Dyskinesia Type 10 (CILD10) |
approved
|
612518 |
|
|
|
|
Primary Ciliary Dyskinesia Type 11 (CILD11) |
approved
|
612649 |
|
|
|
|
Primary Ciliary Dyskinesia Type 12 (CILD12) |
approved
|
612650 |
|
|
|
|
Primary Ciliary Dyskinesia Type 13 (CILD13) |
approved
|
613193 |
|
|
|
|
Primary Ciliary Dyskinesia Type 14 (CILD14) |
approved
|
613807 |
|
|
|
