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