Nsf Results

MCFD2

multiple coagulation factor deficiency 2
10/16/2018

FAU

FAU, ubiquitin like and ribosomal protein S30 fusion

NSF

N-ethylmaleimide sensitive factor, vesicle fusing ATPase

NSFL1C

NSFL1 cofactor

ornithine carbamoyltransferase deficiency

MONDO_0010703 Condition
Ornithine carbamoyltransferase deficiency
02/21/2018

guanidinoacetate methyltransferase deficiency

MONDO_0012999 Condition
Cerebral Creatine Deficiency Syndrome type 2
01/25/2019

carnitine palmitoyl transferase 1A deficiency

MONDO_0009705 Condition
hepatic carnitine palmitoyl transferase 1 deficiency
10/25/2018

succinyl-CoA:3-ketoacid CoA transferase deficiency

MONDO_0009492 Condition
OXCT1 deficiency
05/31/2017

carnitine palmitoyltransferase II deficiency

MONDO_0015515 Condition
CPTII
03/27/2018

GABA aminotransferase deficiency

MONDO_0013166 Condition
Gamma-amino butyric acid transaminase deficiency
05/31/2017

teratoma with malignant transformation

MONDO_0006444 Condition
Teratoma with Malignant Transformation

carnitine palmitoyl transferase II deficiency, neonatal form

MONDO_0012136 Condition
Carnitine palmitoyl transferase II deficiency, lethal systemic form

thiopurine S-methyltransferase deficiency

MONDO_0012503 Condition
poor metabolism of thiopurines-1

qualitative or quantitative defects of protein O-mannosyltransferase 2

MONDO_0016185 Condition
Qualitative or quantitative defects of protein O-mannosyltransferase type 2

qualitative or quantitative defects of protein O-mannosyltransferase 1

MONDO_0016184 Condition
Qualitative or quantitative defects of protein O-mannosyltransferase type 1

hypoxanthine-guanine phosphoribosyltransferase deficiency

MONDO_0016088 Condition
HPRT deficiency

glycine N-methyltransferase deficiency

MONDO_0011698 Condition
Glycine N-methyltransferase deficiency

carnitine acetyltransferase deficiency

MONDO_0011642 Condition

carnitine palmitoyl transferase II deficiency, severe infantile form

MONDO_0010914 Condition
CPT2, hepatocardiomuscular form

twin to twin transfusion syndrome

MONDO_0019805 Condition
Twin-to-twin blood transfer (disorder)