orphafolder

| 308425 | Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
| 307711 | Disease with diffuse palmoplantar keratoderma as a major feature
| 307148 | Isolated diffuse palmoplantar keratoderma
| 307766 | Curly hair-acral keratoderma-caries syndrome
| 307804 | Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
| 307773 | Autosomal dominant diffuse mutilating palmoplantar keratoderma
| 307846 | Isolated focal palmoplantar keratoderma
| 307837 | Focal palmoplantar keratoderma
| 307936 | Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
| 307871 | Disease with focal palmoplantar keratoderma as a major feature
| 307995 | Marginal papular palmoplantar keratoderma
| 307967 | Punctate palmoplantar keratoderma
| 308023 | Disease with punctate palmoplantar keratoderma as a major feature
| 308013 | Focal acral hyperkeratosis
| 308041 | Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
| 308031 | Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
| 309001 | Disorder of carbohydrate absorption and transport
| 309005 | Disorder of lipid metabolism
| 308993 | Glycerol kinase deficiency
| 308998 | Disorder of glyoxylate metabolism
| 308698 | Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
| 308712 | Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
| 308670 | Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
| 308684 | Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
| 309111 | Combined pancreatic lipase-colipase deficiency
| 309115 | Disorder of fatty acid oxidation and ketogenesis
| 309031 | Pancreatic triacylglycerol lipase deficiency
| 309108 | Pancreatic colipase deficiency
| 309025 | Mevalonate kinase deficiency
| 309028 | Disorder of lipid absorption and transport
| 309015 | Familial lipoprotein lipase deficiency
| 309020 | Familial apolipoprotein C-II deficiency
| 308487 | Generalized galactose epimerase deficiency
| 178 | Chordoma
| 308473 | Erythrocyte galactose epimerase deficiency
| 308467 | Disorder of galactose metabolism
| 2637 | Microcephalic osteodysplastic primordial dwarfism type II
| 308463 | Disorder of fructose metabolism
| 592 | Macrophagic myofasciitis
| 308459 | Disorder of glycolysis
| 77 | Aniridia
| 308451 | Disorder of neutral amino acid transport
| 308448 | Aminoacylase deficiency
| 308442 | Vitamin B12-responsive methylmalonic acidemia, type cblDv2
| 308655 | Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
| 308638 | Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
| 308621 | Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
| 308552 | Glycogen storage disease due to acid maltase deficiency, infantile onset
| 308520 | Glycogen storage disease due to glycogen synthase deficiency
| 309271 | Metachromatic leukodystrophy, adult form
| 309279 | Glycoproteinosis
| 309282 | Alpha-mannosidosis, infantile form
| 309288 | Alpha-mannosidosis, adult form
| 309246 | GM2 gangliosidosis, AB variant
| 309252 | Atypical Gaucher disease due to saposin C deficiency
| 309256 | Metachromatic leukodystrophy, late infantile form
| 309263 | Metachromatic leukodystrophy, juvenile form
| 309324 | Free sialic acid storage disease, infantile form
| 309331 | Intermediate severe Salla disease
| 309334 | Salla disease
| 309337 | Lysosomal glycogen storage disease
| 309294 | Sialidosis
| 309297 | Mucopolysaccharidosis type 4A
| 309310 | Mucopolysaccharidosis type 4B
| 309319 | Disorder of sialic acid metabolism
| 309136 | Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
| 309147 | Hyper-beta-alaninemia
| 309144 | Gangliosidosis
| 309127 | 3-hydroxyacyl-CoA dehydrogenase deficiency
| 309120 | Acyl-CoA dehydrogenase deficiency
| 309133 | Metabolic disease due to other fatty acid oxidation disorder
| 309130 | Disorder of carnitine cycle and carnitine transport
| 309185 | Tay-Sachs disease, B variant, juvenile form
| 309178 | Tay-Sachs disease, B variant, infantile form
| 309239 | Tay-Sachs disease, B1 variant
| 309192 | Tay-Sachs disease, B variant, adult form
| 309155 | Sandhoff disease, infantile form
| 309152 | GM2 gangliosidosis
| 309169 | Sandhoff disease, adult form
| 309162 | Sandhoff disease, juvenile form
| 300547 | Autosomal recessive infantile hypercalcemia
| 300552 | Follicular cholangitis and pancreatitis
| 300557 | Carcinoma of the ampulla of Vater
| 300564 | Combined pulmonary fibrosis-emphysema syndrome
| 300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
| 300573 | Polymicrogyria due to TUBB2B mutation
| 300576 | Oligodontia-cancer predisposition syndrome
| 300579 | Staphylococcal toxemia
| 300496 | Multiple congenital anomalies-hypotonia-seizures syndrome type 2
| 300501 | Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
| 300504 | Onychocytic matricoma
| 300512 | Onychomatricoma
| 300515 | Rare nail tumor
| 300525 | Pseudohypoaldosteronism type 2D
| 300530 | Pseudohypoaldosteronism type 2E
| 300536 | DDOST-CDG
| 300849 | Diffuse large B-cell lymphoma of the central nervous system
| 300846 | Aggressive B-cell non-Hodgkin lymphoma
| 300865 | Primary cutaneous anaplastic large cell lymphoma
| 300857 | T-cell/histiocyte rich large B cell lymphoma

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