Du er her: Forside / intranet / orphafolder

orphaentry | 178503 | Dursun syndrome
orphaentry | 611 | Inclusion body myositis
orphaentry | 178493 | Myopic macular degeneration
orphaentry | 178487 | Adult intestinal botulism
orphaentry | 177926 | Symptomatic form of hemophilia A in female carriers
orphaentry | 581 | Mucopolysaccharidosis type 3
orphaentry | 177929 | Symptomatic form of hemophilia B in female carriers
orphaentry | 685 | Hereditary spastic paraplegia
orphaentry | 178025 | Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations
orphaentry | 666 | Osteogenesis imperfecta
orphaentry | 178029 | Central diabetes insipidus
orphaentry | 177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
orphaentry | 423 | Malignant hyperthermia of anesthesia
orphaentry | 177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
orphaentry | 418 | Congenital adrenal hyperplasia
orphaentry | 177907 | Prader-Willi syndrome due to translocation
orphaentry | 177910 | Prader-Willi syndrome due to imprinting mutation
orphaentry | 216 | Neuronal ceroid lipofuscinosis
orphaentry | 364 | Glycogen storage disease due to glucose-6-phosphatase deficiency
orphaentry | 177101 | Rare adult hypothyroidism
orphaentry | 355 | Gaucher disease
orphaentry | 388 | Hirschsprung disease
orphaentry | 177107 | Syndromic hypothyroidism
orphaentry | 448 | Hemophilia
orphaentry | 304 | Epidermolysis bullosa simplex
orphaentry | 174590 | Congenital hypogonadotropic hypogonadism
orphaentry | 354 | GM1 gangliosidosis
orphaentry | 178320 | Acute lung injury
orphaentry | 178315 | Undifferentiated embryonal sarcoma of the liver
orphaentry | 178333 | Åland Islands eye disease
orphaentry | 760 | Purine nucleoside phosphorylase deficiency
orphaentry | 178330 | Heinz body anemia
orphaentry | 270 | Oculopharyngeal muscular dystrophy
orphaentry | 178303 | 8q22.1 microdeletion syndrome
orphaentry | 244 | Primary ciliary dyskinesia
orphaentry | 178148 | Antenatal multiminicore disease with arthrogryposis multiplex congenita
orphaentry | 178311 | Isolated sternocostoclavicular hyperostosis
orphaentry | 178307 | Reticulate acropigmentation of Kitamura
orphaentry | 589 | Myasthenia gravis
orphaentry | 805 | Tuberous sclerosis complex
orphaentry | 886 | Usher syndrome
orphaentry | 178145 | Moderate multiminicore disease with hand involvement
orphaentry | 3440 | Waardenburg syndrome
orphaentry | 178040 | Peripheral precocious puberty
orphaentry | 702 | Pelizaeus-Merzbacher disease
orphaentry | 738 | Porphyria
orphaentry | 768 | Familial long QT syndrome
orphaentry | 178045 | Transient congenital hypothyroidism
orphaentry | 791 | Retinitis pigmentosa
orphaentry | 172985 | Congenital myopathy with vacuoles
orphaentry | 375 | Anti-glomerular basement membrane disease
orphaentry | 2054 | Osteochondritis of tarsal/metatarsal bone
orphaentry | 183 | Eosinophilic granulomatosis with polyangiitis
orphaentry | 172979 | Congenital myopathy with central nuclei
orphaentry | 172982 | Congenital myopathy with fiber size variation
orphaentry | 1164 | Allergic bronchopulmonary aspergillosis
orphaentry | 2406 | Locked-in syndrome
orphaentry | 509 | Leptospirosis
orphaentry | 761 | Immunoglobulin A vasculitis
orphaentry | 2131 | Alternating hemiplegia of childhood
orphaentry | 171901 | Primary cutaneous T-cell lymphoma
orphaentry | 713 | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
orphaentry | 171915 | B-cell non-Hodgkin lymphoma
orphaentry | 57 | Glycogen storage disease due to aldolase A deficiency
orphaentry | 171895 | Myeloid hemopathy
orphaentry | 171898 | Lymphoid hemopathy
orphaentry | 172973 | Congenital myopathy with protein accumulation
orphaentry | 249 | Fibrous dysplasia of bone
orphaentry | 172976 | Congenital myopathy with cores
orphaentry | 2334 | Autosomal dominant keratitis
orphaentry | 171918 | T-cell non-Hodgkin lymphoma
orphaentry | 755 | Leydig cell hypoplasia
orphaentry | 171929 | Trisomy 10p
orphaentry | 187 | Citrullinemia
orphaentry | 46 | Adenylosuccinate lyase deficiency
orphaentry | 442 | Congenital hypothyroidism
orphaentry | 43 | X-linked adrenoleukodystrophy
orphaentry | 3166 | Sialuria
orphaentry | 2882 | Sitosterolemia
orphaentry | 810 | Shigellosis
orphaentry | 3165 | Eosinophilic fasciitis
orphaentry | 2420 | Primary pulmonary lymphoma
orphaentry | 727 | Microscopic polyangiitis
orphaentry | 900 | Granulomatosis with polyangiitis
orphaentry | 863 | Trichinellosis
orphaentry | 171695 | Parkinsonian-pyramidal syndrome
orphaentry | 134 | Beta-ketothiolase deficiency
orphaentry | 171700 | Diffuse panbronchiolitis
orphaentry | 984 | Pulmonary agenesis
orphaentry | 171703 | Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
orphaentry | 171706 | Short stature-delayed bone age due to thyroid hormone metabolism deficiency
orphaentry | 171709 | Male infertility due to globozoospermia
orphaentry | 171714 | Amish infantile epilepsy syndrome
orphaentry | 171719 | Cutis laxa-Marfanoid syndrome
orphaentry | 1163 | Aspergillosis
orphaentry | 171723 | White sponge nevus
orphaentry | 3467 | Hereditary xanthinuria
orphaentry | 171673 | Limbal stem cell deficiency
orphaentry | 171676 | Periventricular leukomalacia
orphaentry | 171680 | Lissencephaly due to TUBA1A mutation

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