|
mitochondrial short-chain ENOYL-CoA hydratase 1 deficiency
|
14563 |
|
|
mitochondrial short-chain ENOYL-CoA hydratase 1 deficiency; ECHS1D
|
http://purl.obolibrary.org/obo/MONDO_0014563 |
|
|
mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
|
14563 |
|
|
spastic paraplegia 73, autosomal dominant
|
14568 |
|
|
spastic paraplegia 73, autosomal dominant; SPG73
|
http://purl.obolibrary.org/obo/MONDO_0014568 |
|
|
autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
|
14566 |
|
|
autosomal dominant Charcot-Marie-Tooth disease type 2U
|
14566 |
|
|
nephronophthisis 3; NPHP3
|
http://purl.obolibrary.org/obo/MONDO_0011456 |
|
|
primary coenzyme Q10 deficiency 7
|
14562 |
|
|
mental retardation, autosomal recessive 49
|
14567 |
|
|
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 |
|
