-
| 36273 | Gastric linitis plastica
-
| 36258 | Buerger disease
-
| 35808 | Malignant sex cord stromal tumor of ovary
-
| 35807 | Malignant germ cell tumor of ovary
-
| 35878 | Hyperinsulinism-hyperammonemia syndrome
-
| 35858 | Imerslund-Gräsbeck syndrome
-
| 35909 | Combined deficiency of factor V and factor VIII
-
| 35889 | Acute opioid poisoning
-
| 36204 | Intestinal lymphangiectasia
-
| 35981 | Polymicrogyria
-
| 33572 | 5-oxoprolinase deficiency
-
| 33543 | Kleine-Levin syndrome
-
| 33475 | Meningococcal meningitis
-
| 33445 | Neuroectodermal melanolysosomal disease
-
| 33408 | Bullous lichen planus
-
| 33402 | Pediatric hepatocellular carcinoma
-
| 34217 | Naxos disease
-
| 34149 | Autosomal dominant tubulointerstitial kidney disease
-
| 33577 | Nodular non-suppurative panniculitis
-
| 33574 | Glutamate-cysteine ligase deficiency
-
| 33573 | Gamma-glutamyl transpeptidase deficiency
-
| 33110 | Autosomal agammaglobulinemia
-
| 33111 | Granulomatous slack skin
-
| 33108 | Lethal multiple pterygium syndrome
-
| 33067 | Metaphyseal chondrodysplasia, Jansen type
-
| 33069 | Dravet syndrome
-
| 33001 | Lymphedema-distichiasis syndrome
-
| 33355 | Reticular dysgenesis
-
| 33364 | Trichothiodystrophy
-
| 33276 | Kaposi sarcoma
-
| 33314 | Jessner lymphocytic infiltration of the skin
-
| 33208 | Idiopathic hypersomnia
-
| 33226 | Waldenström macroglobulinemia
-
| 35061 | Idiopathic recurrent and disabling cutaneous herpes
-
| 35069 | Infantile neuroaxonal dystrophy
-
| 35093 | Isolated scaphocephaly
-
| 35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency
-
| 35063 | Fulminant viral hepatitis
-
| 35062 | Idiopathic disseminated cytomegalovirus infection
-
| 35065 | Idiopathic severe pneumococcemia
-
| 34520 | Congenital muscular dystrophy with integrin alpha-7 deficiency
-
| 34521 | Distal myopathy with early respiratory muscle involvement
-
| 34514 | Autosomal recessive limb-girdle muscular dystrophy type 2G
-
| 34515 | Autosomal recessive limb-girdle muscular dystrophy type 2I
-
| 34516 | Autosomal dominant limb-girdle muscular dystrophy type 1D
-
| 34517 | Autosomal dominant limb-girdle muscular dystrophy type 1E
-
| 34587 | Glycogen storage disease due to LAMP-2 deficiency
-
| 34592 | Immunodeficiency by defective expression of HLA class 1
-
| 34526 | Familial primary hypomagnesemia
-
| 34527 | Familial primary hypomagnesemia with normocalciuria and normocalcemia
-
| 34528 | Autosomal dominant primary hypomagnesemia with hypocalciuria
-
| 34533 | Corneal dystrophy
-
| 32960 | Tumor necrosis factor receptor 1 associated periodic syndrome
-
| 52662 | Rare teratologic disease
-
| 52530 | Pseudo-von Willebrand disease
-
| 52688 | Myelodysplastic syndrome
-
| 52429 | Branchiootic syndrome
-
| 52428 | Congenital muscular dystrophy type 1C
-
| 52503 | X-linked creatine transporter deficiency
-
| 52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
-
| 52416 | Mantle cell lymphoma
-
| 52427 | Retinitis punctata albescens
-
| 52417 | MALT lymphoma
-
| 52056 | Ulnar/fibula ray defect-brachydactyly syndrome
-
| 52055 | Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
-
| 52368 | Mohr-Tranebjaerg syndrome
-
| 52183 | Premature chromosome condensation with microcephaly and intellectual disability
-
| 53271 | Muenke syndrome
-
| 53296 | Familial cutaneous collagenoma
-
| 53347 | Brody myopathy
-
| 52994 | Orbital leiomyoma
-
| 53035 | Caroli disease
-
| 52759 | Vasculitis
-
| 52901 | Isolated follicle stimulating hormone deficiency
-
| 53690 | Congenital lactase deficiency
-
| 53689 | Congenital chloride diarrhea
-
| 53583 | Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
-
| 53540 | Goldmann-Favre syndrome
-
| 53372 | Hereditary geniospasm
-
| 53351 | X-linked dystonia-parkinsonism
-
| 54260 | Left ventricular noncompaction
-
| 54247 | Posterior cortical atrophy
-
| 54251 | Corticosteroid-sensitive aseptic abscess syndrome
-
| 54057 | Thrombotic thrombocytopenic purpura
-
| 54238 | Myotonic dystrophy type 3
-
| 53739 | Distal hereditary motor neuropathy
-
| 54028 | Plummer-Vinson syndrome
-
| 53719 | Wyburn-Mason syndrome
-
| 53721 | Spinal arteriovenous metameric syndrome
-
| 53698 | Hyaline body myopathy
-
| 53715 | Familial tumoral calcinosis
-
| 53696 | Lethal arthrogryposis-anterior horn cell disease syndrome
-
| 53697 | Gnathodiaphyseal dysplasia
-
| 53691 | Congenital cornea plana
-
| 53693 | GRACILE syndrome
-
| 48818 | Aceruloplasminemia
-
| 48736 | Embryonal carcinoma of the central nervous system
-
| 49041 | IgG4-related retroperitoneal fibrosis
-
| 48918 | Focal myositis
-
| 49382 | Achromatopsia
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