-
| 399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation
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| 399786 | Male infertility with spermatogenesis disorder due to single gene mutation
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| 399775 | Male infertility with spermatogenesis disorder
-
| 399329 | Epiphysiolysis of the hip
-
| 399391 | Osteochondrosis of genetic origin
-
| 399572 | Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder
-
| 399380 | Osteonecrosis of genetic origin
-
| 399388 | Avascular necrosis of genetic origin
-
| 399180 | Secondary non-traumatic avascular necrosis
-
| 399185 | Rare hereditary disease with avascular necrosis
-
| 399169 | Secondary avascular necrosis
-
| 399175 | Traumatic avascular necrosis
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| 399307 | Idiopathic avascular necrosis
-
| 399319 | Osteochondrosis
-
| 399293 | Osteonecrosis of the jaw
-
| 399302 | Primary avascular necrosis
-
| 399058 | Alpha-B crystallin-related late-onset myopathy
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| 398987 | Malignant teratoma of ovary
-
| 399086 | Finnish upper limb-onset distal myopathy
-
| 399081 | KLHL9-related early-onset distal myopathy
-
| 399103 | Distal nebulin myopathy
-
| 399096 | Distal anoctaminopathy
-
| 399164 | Avascular necrosis
-
| 399158 | Osteonecrosis
-
| 398934 | Malignant epithelial tumor of ovary
-
| 398961 | Mucinous adenocarcinoma of ovary
-
| 398940 | Malignant non-epithelial tumor of ovary
-
| 398980 | Primary peritoneal serous/papillary carcinoma
-
| 398971 | Clear cell adenocarcinoma of the ovary
-
| 398124 | Neonatal lupus erythematosus
-
| 398127 | Neonatal scleroderma
-
| 398147 | Persistent idiopathic facial pain
-
| 398156 | Oculoauriculofrontonasal syndrome
-
| 398166 | Focal facial dermal dysplasia
-
| 398173 | Focal facial dermal dysplasia type II
-
| 398189 | Focal facial dermal dysplasia type IV
-
| 398069 | Prader-Willi syndrome due to a point mutation
-
| 398073 | Prader-Willi-like syndrome
-
| 398079 | Prader-Willi-like syndrome due to a point mutation
-
| 398088 | Hereditary cryohydrocytosis with normal stomatin
-
| 398091 | Secondary neonatal autoimmune disease
-
| 398097 | Neonatal antiphospholipid syndrome
-
| 398109 | Neonatal autoimmune hemolytic anemia
-
| 398117 | Neonatal dermatomyositis
-
| 3008 | Pyruvate carboxylase deficiency
-
| 595 | Centronuclear myopathy
-
| 298 | Mitochondrial neurogastrointestinal encephalomyopathy
-
| 396 | Chronic hiccup
-
| 552 | MODY
-
| 854 | Primitive portal vein thrombosis
-
| 130 | Brugada syndrome
-
| 277 | Severe combined immunodeficiency due to adenosine deaminase deficiency
-
| 26793 | Very long chain acyl-CoA dehydrogenase deficiency
-
| 29072 | Hereditary pheochromocytoma-paraganglioma
-
| 28378 | Tyrosinemia type 2
-
| 29207 | Reactive arthritis
-
| 29073 | Multiple myeloma
-
| 29822 | Spontaneous periodic hypothermia
-
| 30391 | Isolated biliary atresia
-
| 320 | Apparent mineralocorticoid excess
-
| 724 | Idiopathic acute eosinophilic pneumonia
-
| 230 | Dopamine beta-hydroxylase deficiency
-
| 725 | Continuous spikes and waves during sleep
-
| 590 | Congenital myasthenic syndrome
-
| 404 | Familial hyperaldosteronism type II
-
| 756 | Pseudohypoaldosteronism type 1
-
| 162 | Cataract-glaucoma syndrome
-
| 544 | Diffuse large B-cell lymphoma
-
| 545 | Follicular lymphoma
-
| 88 | Idiopathic aplastic anemia
-
| 102 | Multiple system atrophy
-
| 824 | Primary myelofibrosis
-
| 748 | Mendelian susceptibility to mycobacterial diseases
-
| 729 | Polycythemia vera
-
| 25980 | X-linked myopathy with excessive autophagy
-
| 26137 | Juvenile temporal arteritis
-
| 26106 | Hereditary diffuse gastric cancer
-
| 25968 | Benign occipital epilepsy
-
| 807 | Sebastian syndrome
-
| 26790 | Pseudomyxoma peritonei
-
| 26792 | Short chain acyl-CoA dehydrogenase deficiency
-
| 26791 | Multiple acyl-CoA dehydrogenase deficiency
-
| 26348 | Acquired prothrombin deficiency
-
| 26349 | Protein S acquired deficiency
-
| 620 | Common mesentery
-
| 831 | Congenital cervical spinal stenosis
-
| 49 | Penile agenesis
-
| 227 | Diphallia
-
| 674 | Accessory pancreas
-
| 386 | Hepatic cystic hamartoma
-
| 266 | Autosomal dominant limb-girdle muscular dystrophy type 1A
-
| 264 | Autosomal dominant limb-girdle muscular dystrophy type 1B
-
| 353 | Autosomal recessive limb-girdle muscular dystrophy type 2C
-
| 219 | Autosomal recessive limb-girdle muscular dystrophy type 2F
-
| 641 | Multifocal motor neuropathy
-
| 119 | Autosomal recessive limb-girdle muscular dystrophy type 2E
-
| 788 | Hereditary resistance to anti-vitamin K
-
| 603 | Distal myopathy, Welander type
-
| 588 | Muscle-eye-brain disease
-
| 899 | Walker-Warburg syndrome
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