|
autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
|
14566 |
|
|
autosomal dominant Charcot-Marie-Tooth disease type 2U
|
14566 |
|
|
spondylometaepiphyseal dysplasia, Menger type
|
54560 |
|
|
3-Hydroxyacyl-CoA dehydrogenase II deficiency
|
C564560 |
|
|
Hydroxyacyl-CoA dehydrogenase II deficiency
|
C564560 |
|
|
low serum HDL cholesterol
|
D052456 |
|
|
neurofibromatosis, peripheral, NF 1
|
D009456 |
|
|
neurofibromatosis, peripheral, NF1
|
D009456 |
|
|
nephronophthisis 3; NPHP3
|
http://purl.obolibrary.org/obo/MONDO_0011456 |
|
|
primary coenzyme Q10 deficiency 7
|
14562 |
|
|
congenital bile acid synthesis defect 5
|
14564 |
|
|
congenital bile acid synthesis defect caused by mutation in ABCD3
|
14564 |
|
|
congenital bile acid synthesis defect type 5
|
14564 |
|
|
CLPB 3-methylglutaconic aciduria
|
14561 |
|
|
biphenotypic leukemia, acute
|
D015456 |
|
