4
2
|
2
|
|
Osteopathia striata with cranial sclerosis (OSCS)
|
AMER1
|
XL
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Osteopetrosis, autosomal recessive 1 (OPTB1)
|
TCIRG1
|
AR
|
5
|
7
|
7
|
13
|
3
|
3
|
|
Pachyonychia congenita 3 (PC3)
|
KRT6A
|
AD
|
1
|
2
|
2
|
2
|
2
|
1
|
|
Pancreatitis, hereditary (PCTT)
|
PRSS1
|
AD
|
1
|
1
|
1
|
2
|
1
|
1
|
|
Paraganglioma and gastric stromal sarcoma
|
SDHB
|
AD
|
1
|
1
|
0
|
0
|
0
|
0
|
|
Paramyotonia congenita of von Eulenburg (PMC)
|
SCN4A
|
AD
|
3
|
3
|
3
|
4
|
3
|
2
|
|
Pelizaeus–Merzbacher disease (PMD)
|
PLP1
|
XL
|
7
|
12
|
10
|
15
|
7
|
7
|
|
Periventricular nodular heterotopia 1 (PVNH1)
|
FLNA
|
XL
|
1
|
3
|
3
|
5
|
2
|
1
|
|
Peroxisome biogenesis disorder 1A (Zellweger) (PBD1A)
|
PEX1
|
AR
|
3
|
3
|
3
|
6
|
3
|
3
|
|
Peroxisome biogenesis disorder 2A (Zellweger) (PBD2A)
|
PEX5
|
AR
|
1
|
2
|
2
|
4
|
0
|
0
|
|
Peroxisome biogenesis disorder 3A (Zellweger) (PBD3A)
|
PEX12
|
AR
|
1
|
3
|
3
|
4
|
2
|
1
|
|
Peroxisome biogenesis disorder 5A (Zellweger) (PBD5A)
|
PEX2
|
AR
|
1
|
4
|
3
|
5
|
2
|
2
|
|
Peutz–Jeghers syndrome (PJS)
|
STK11
|
AD
|
4
|
9
|
7
|
9
|
6
|
4
|
|
Pfeiffer syndrome
|
FGFR1
|
AD
|
2
|
2
|
2
|
4
|
2
|
2
|
|
Phenylketonuria (PKU)
|
PAH
|
AR
|
15
|
20
|
14
|
16
|
8
|
7
|
|
Platelet disorder, familial, with associated myeloid malignancy (FPDMM)
|
RUNX1
|
AD
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Pleuropulmonary blastoma (PPB)
|
DICER1
|
AD
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Polycystic kidney disease 1 (PKD1)
|
PKD1
|
AD
|
48
|
84
|
64
|
98
|
37
|
34
|
|
Polycystic kidney disease 2 (PKD2)
|
PKD2
|
AD
|
7
|
10
|
9
|
15
|
3
|
3
|
|
Polycystic kidney disease, autosomal recessive (ARPKD)
|
|
4
