|
ankle defects short stature
|
22456 |
|
|
UNC93B1 herpes simplex encephalitis
|
24563 |
|
|
5q14.3 microdeletion syndrome
|
16456 |
|
|
autosomal dominant spastic paraplegia type 73
|
14568 |
|
|
ectodermal dysplasia-syndactyly syndrome 1; EDSS1
|
http://purl.obolibrary.org/obo/MONDO_0024565 |
|
|
sick sinus syndrome 1; SSS1
|
http://purl.obolibrary.org/obo/MONDO_0024562 |
|
|
bile acid synthesis defect, congenital, 5
|
14564 |
|
|
Coats plus syndrome caused by mutation in CTC1
|
24564 |
|
|
ectodermal dysplasia-syndactyly syndrome caused by mutation in NECTIN4
|
24565 |
|
|
sick sinus syndrome caused by mutation in SCN5A
|
24562 |
|
|
creatine deficiency syndrome
|
456 |
|
|
postgastric surgery syndrome
|
4566 |
|
|
bile acid synthesis defect, congenital, 5; CBAS5
|
http://purl.obolibrary.org/obo/MONDO_0014564 |
|
