| 1 |
P |
CCH009 |
Coach Syndrome 1
|
57 |
| 2 |
|
GRC001 |
Gracile Syndrome
|
54 |
| 3 |
|
CNG564 |
Congenital Respiratory-Biliary Fistula
|
10 |
| 4 |
c |
PSD121 |
Pseudo-Torch Syndrome 3
|
25 |
| 5 |
|
ISL116 |
Isolated Complex Iii Deficiency
|
27 |
| 6 |
c |
PSD107 |
Pseudo-Torch Syndrome 2
|
32 |
| 7 |
|
GST052 |
Gestational Choriocarcinoma
|
37 |
| 8 |
|
RYN003 |
Reynolds Syndrome
|
48 |
| 9 |
c |
PSD106 |
Pseudo-Torch Syndrome 1
|
48 |
| 10 |
|
CHL065 |
Cholangiocarcinoma
|
67 |
| 11 |
|
RRM018 |
Rare Malignant Epithelial Tumor of Liver and Intrahepatic Biliary Tract
|
4 |
| 12 |
c |
LTN032 |
Late-Onset Citrullinemia Type I
|
9 |
| 13 |
c |
CHR471 |
Chronic Hepatic Porphyria
|
15 |
| 14 |
|
CRB163 |
Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome
|
21 |
| 15 |
|
HYP481 |
Hyperbiliverdinemia
|
27 |
| 16 |
|
HPT085 |
Hepatitis, Fulminant Viral
|
31 |
| 17 |
|
MTC085 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
|
46 |
| 18 |
|
GLY081 |
Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency
|
46 |
| 19 |
|
CMB026 |
Combined Oxidative Phosphorylation Deficiency 12
|
49 |
| 20 |
|
ALP012 |
Alpha-Methylacyl-Coa Racemase Deficiency
|
49 |
