|
hypercholanemia, familial; FHCA
|
http://purl.obolibrary.org/obo/MONDO_0011905 |
|
|
nephronophthisis 2; NPHP2
|
http://purl.obolibrary.org/obo/MONDO_0011190 |
|
|
Charcot Marie Tooth disease dominant intermediate 3
|
11909 |
|
|
Charcot Marie Tooth disease type 1F
|
11902 |
|
|
Charcot Marie Tooth disease type 2H
|
11901 |
|
|
Charcot Marie Tooth disease type 2J
|
11903 |
|
|
congenital bile acid synthesis defect 1
|
11906 |
|
|
congenital bile acid synthesis defect caused by mutation in HSD3B7
|
11906 |
|
|
congenital bile acid synthesis defect type 1
|
11906 |
|
|
congenital bile acid synthesis defect, type 1
|
11906 |
|