|
gamma aminobutyric acid transaminase deficiency
|
13166 |
|
|
gamma-amino butyric acid transaminase deficiency
|
13166 |
|
|
4 alpha aminobutyrate transaminase deficiency
|
13166 |
|
|
nephronophthisis (disease) caused by mutation in XPNPEP3
|
13163 |
|
|
autosomal recessive complex spastic paraplegia caused by mutation in NT5C2
|
13165 |
|
|
muscular dystrophy, congenital, Pomt2-Related
|
http://purl.obolibrary.org/obo/MONDO_0013160 |
|
|
muscular dystrophy, congenital, Pomt2-related
|
13160 |
|
|
Beta-alanine synthase deficiency
|
13164 |
|
|
GABA aminotransferase deficiency
|
13166 |
|
|
GABA transaminase deficiency
|
13166 |
|
|
familial isolated dilated cardiomyopathy caused by mutation in RBM20
|
13168 |
|
|
chromosome 5p13 duplication syndrome
|
13169 |
|
|
limb-girdle muscular dystrophy type 2N
|
13162 |
|
|
limb-girdle muscular dystrophy type 2O
|
13161 |
|
