|
Carnitine Palmitoyltransferase 2 deficiency with hypoketotic hypoglycemia
|
10914 |
|
|
Carnitine Palmitoyltransferase 2 deficiency, hepatocardiomuscular
|
10914 |
|
|
Carnitine Palmitoyltransferase 2 deficiency, infantile
|
10914 |
|
|
torsion dystonia 2, autosomal recessive type
|
9141 |
|
|
CARNITINE PALMITOYLTRANSFERASE II deficiency, infantile
|
10914 |
|
|
Meier-GORLIN syndrome 1; MGORS1
|
http://purl.obolibrary.org/obo/MONDO_0009143 |
|
|
Dias-Logan syndrome; DILOS
|
14914 |
|
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES; IDDHDF
|
http://purl.obolibrary.org/obo/MONDO_0029143 |
|
|
EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY
|
29144 |
|
|
EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO
|
http://purl.obolibrary.org/obo/MONDO_0029144 |
|
|
primary dystonia, DYT2 type
|
9141 |
|
|
METHANETHIOL Oxidase Deficiency
|
29144 |
|
