2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
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Glycogen storage disease, type 0
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2-methylbutyrylglycinuria
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Gonadal dysgenesis, 46XY, partial, with minifascicular neuropathy
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2-methylbutyrylglycinuria
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Griscelli syndrome, type 2
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3-methylglutaconic aciduria, type I
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Hawkinsinuria
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Acyl-CoA dehydrogenase, short-chain, deficiency of
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Hemolytic anemia due to bisphosphoglycerate mutase deficiency
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Adrenal cortical carcinoma
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Homocysteine plasma level
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Aldolase A deficiency
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HPRT-related gout
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Alzheimer disease-4
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Hyper-IgD syndrome
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Amyotrophic lateral sclerosis 10
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Hyperleucinemia-isoleucinemia or hypervalinemia
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Arthrogryposis multiplex congenita, distal, type 1
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Hypervalinemia or hyperleucine-isoleucinemia
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Bannayan-Riley-Ruvalcaba syndrome
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Hypogonadotropic hypogonadism
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Bartter syndrome, type 2
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Hypokalemic periodic paralysis
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Beta-ureidopropionase deficiency
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Hypomagnesemia, renal, with ocular involvement
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Birt-Hogg-Dube syndrome,
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Hypotrichosis, localized, autosomal recessive
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Bjornstad syndrome,
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Immunodeficiency with hyper IgM, type 4
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Breast cancer, sporadic
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Leigh syndrome
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Brugada syndrome 2
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Leukoencephalopathy with vanishing white matter
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Brunner syndrome
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Lipoid adrenal hyperplasia
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C2 deficiency
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Lung cancer
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C9 deficiency
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Mast syndrome,
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Cardiomyopathy, dilated, 1M,
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Megakaryoblastic leukemia, acute
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Cardiomyopathy, dilated, 1N
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Mental retardation, X-linked syndromic
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Cardiomyopathy, dilated, 1Z
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Methemoglobinemia due to cytochrome b5 deficiency
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Cardiomyopathy, familial hypertrophic
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Methylmalonyl-CoA epimerase deficiency
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Carnitine acetyltransferase deficiency
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Microphthalmia, syndromic 6
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Carnitine deficiency, systemic primary
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Mitochondrial complex I deficiency
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Cataract, posterior polar 2
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Myopathy due to phosphoglycerate mutase deficiency
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Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
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Myopathy with exercise intolerance, Swedish type
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Ceroid lipofuscinosis, neuronal 8
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Neuroblastoma
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Charcot-Marie-Tooth disease, axonal, type 2F
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Oral-facial-digital syndrome 1
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Charcot-Marie-Tooth neuropathy, X-linked dominant, 1
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Ovarian carcinoma
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Colon cancer, advanced
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Pancreatic cancer
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Combined oxidative phosphorylation deficiency 2
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Phenylketonuria - dihydropteridine reductase deficiency
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Combined oxidative phosphorylation deficiency 5
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Phosphoglycerate kinase 1 deficiency
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Congenital disorder of glycosylation, type IIc
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Porphyria cutanea tarda
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Costello syndrome
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Retinitis pigmentosa-46
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Cutis laxa, autosomal dominant
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Retinitis pigmentosa-46
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D-2-hydroxyglutaric aciduria
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Ribose 5-phosphate isomerase deficiency
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Deafness, autosomal recessive 63
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Spastic paraplegia 31
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Desmosterolosis
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Spondylocostal dysostosis, autosomal recessive 3
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Diamond-Blackfan anemia 6
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STAR syndrome
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Epilepsy, neonatal myoclonic, with suppression-burst pattern
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Temperature-sensitive apoptosis, cellular
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Esophageal carcinoma, somatic
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Transcobalamin II deficiency
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Galactosemia
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Tyrosinemia, type I
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Generalized epilepsy with febrile seizures
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Ventricular tachycardia, catecholaminergic polymorphic, 2
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Glutamine deficiency, congenital
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