|
dihydrofolate reductase deficiency
|
13456 |
|
|
hypertrophic cardiomyopathy caused by mutation in MYOZ2
|
13455 |
|
|
osteogenesis imperfecta caused by mutation in SERPINH1
|
13459 |
|
|
night blindness, congenital stationary, type 1D
|
13450 |
|
|
night blindness, congenital stationary, type 1D; CSNB1D
|
http://purl.obolibrary.org/obo/MONDO_0013450 |
|
|
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
|
13458 |
|
|
megaloblastic anemia due to dihydrofolate reductase deficiency
|
13456 |
|
|
progressive myoclonic epilepsy type 5
|
http://purl.obolibrary.org/obo/MONDO_0013451 |
|
|
CRB1 Leber congenital amaurosis
|
13453 |
|
|
IMPDH1 Leber congenital amaurosis
|
13454 |
|
|
TULP1 Leber congenital amaurosis
|
13457 |
|
|
hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome
|
13458 |
|
|
hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome; HUPRAS
|
http://purl.obolibrary.org/obo/MONDO_0013458 |
|
