|
Description | Omim Number | Sample Count |
46,XY SEX REVERSAL 4; SRXY4 | 154230 | 1 |
ADRENAL HYPOPLASIA, CONGENITAL; AHC | 300200 | 5 |
ALAGILLE SYNDROME 1; ALGS1 | 118450 | 13 |
ANGELMAN SYNDROME; AS | 105830 | 9 |
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1 | 208000 | 3 |
BECKWITH-WIEDEMANN SYNDROME; BWS | 130650 | 6 |
BERNARD-SOULIER SYNDROME; BSS | 231200 | 4 |
CARBONIC ANHYDRASE I; CA1 | 114800 | 4 |
CARBOXYPEPTIDASE N DEFICIENCY | 212070 | 1 |
CATALASE; CAT | 115500 | 1 |
CHEDIAK-HIGASHI SYNDROME; CHS | 214500 | 5 |
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1 | 211600 | 16 |
CHROMOSOME 5q DELETION SYNDROME | 153550 | 1 |
CIRRHOSIS, FAMILIAL | 215600 | 6 |
COFFIN-LOWRY SYNDROME; CLS | 303600 | 3 |
COLORECTAL CANCER; CRC | 114500 | 8 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; CDG1G | 607143 | 2 |
COPROPORPHYRIA, HEREDITARY; HCP | 121300 | 2 |
COWDEN SYNDROME 1; CWS1 | 158350 | 1 |
CRI-DU-CHAT SYNDROME | 123450 | 1 |