DISO2_YXZ Find_IDs Find_Terms Annotation
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created at 2017-12-21 11:07:44 UTC
updated at 2017-12-22 12:31:05 UTC
2 layers
520,470 entries
Label
Id
TFP DISO:LNC
Trifunctional Protein Deficiency With Myopathy And Neuropathy DISO:MTH
LCHAD DEFICIENCY DISO:OMIM
LCHAD DEFICIENCY DISO:OMIM
Long chain 3 hydroxyacyl coA dehydrogenase deficiency DISO:HPO
MTPD DISO:OMIM
MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY DISO:OMIM
TRIFUNCTIONAL PROTEIN DEFICIENCY DISO:OMIM
MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY DISO:OMIM
MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY DISO:OMIM
MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY DISO:OMIM
Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD) DISO:MTHICD9
Abnormal pupillary light reflexes DISO:OMIM
Normal platelet aggregation studies with ADP, collagen, and ristocetin DISO:OMIM
Vesicoureteral reflux (rare) DISO:OMIM