orphafolder

| 98543 | Metabolic disease with dementia
| 98494 | Acquired neuromuscular junction disease
| 98491 | Neuromuscular junction disease
| 98497 | Genetic peripheral neuropathy
| 98495 | Genetic neuromuscular junction disease
| 98496 | Rare peripheral neuropathy
| 98506 | Acquired motor neuron disease
| 98505 | Genetic motor neuron disease
| 98503 | Motor neuron disease
| 98518 | Cranial nerve and nuclear aplasia
| 98516 | Malformation of the cerebellar hemispheres
| 98514 | Malformation of the cerebellar vermis
| 117573 | Syndromic anorectal malformation
| 104077 | Myopathic intestinal pseudoobstruction
| 104076 | Leiomyosarcoma of small intestine
| 104075 | Adenocarcinoma of the small instestine
| 104013 | Metabolic disease with intestinal involvement
| 104012 | Rare inflammatory bowel disease
| 104011 | Rare tumor of intestine
| 104010 | Intestinal polyposis syndrome
| 104009 | Rare disease involving intestinal motility
| 104008 | Short bowel syndrome
| 104007 | Congenital enteropathy involving intestinal mucosa development
| 104006 | Congenital intestinal disease due to an enzymatic defect
| 104005 | Intestinal disease due to fat malabsorption
| 104004 | Intestinal disease due to vitamin absorption anomaly
| 104003 | Congenital intestinal transport defect
| 103920 | Undetermined colitis
| 103919 | Autoimmune pancreatitis
| 103918 | Tropical pancreatitis
| 103910 | Congenital enterocyte heparan sulfate deficiency
| 103908 | Congenital sodium diarrhea
| 103909 | Trehalase deficiency
| 103907 | Chronic diarrhea due to glucoamylase deficiency
| 102724 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation
| 102379 | Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
| 102381 | Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
| 109011 | Non-syndromic limb malformation
| 109009 | Syndrome with limb malformations as a major feature
| 117569 | Rare intestinal disease
| 109007 | Arthrogryposis syndrome
| 108995 | Syndromic respiratory or mediastinal malformation
| 108993 | Non-syndromic respiratory or mediastinal malformation
| 108999 | Rare disorder due to toxic effects
| 108997 | Rare anemia
| 108987 | Syndromic developmental defect of the eye
| 108985 | Non-syndromic developmental defect of the eye
| 108991 | Syndrome with a central nervous system malformation as major feature
| 108989 | Non-syndromic central nervous system malformation
| 108977 | Non-syndromic diaphragmatic or abdominal wall malformation
| 108979 | Syndromic diaphragmatic or abdominal wall malformation
| 108969 | Syndromic intestinal malformation
| 108971 | Non-syndromic visceral malformation
| 108973 | Syndromic visceral malformation
| 108961 | Syndromic esophageal malformation
| 108963 | Non-syndromic gastroduodenal malformation
| 108965 | Syndromic gastroduodenal malformation
| 108967 | Non-syndromic intestinal malformation
| 104078 | Unclassified intestinal pseudoobstruction
| 108959 | Non-syndromic esophageal malformation
| 101995 | Periodic fever syndrome
| 101992 | Immunodeficiency due to a complement cascade protein anomaly
| 101998 | Rare epilepsy
| 101997 | Primary immunodeficiency
| 102002 | Rare ataxia
| 102003 | Rare movement disorder
| 102000 | Medullar disease
| 102006 | Neurovascular malformation
| 102005 | Brain inflammatory disease
| 101977 | Immunodeficiency predominantly affecting antibody production
| 101987 | Constitutional neutropenia
| 101985 | Quantitative and/or qualitative congenital phagocyte defect
| 101988 | Primary immunodeficiency due to a defect in innate immunity
| 102024 | Human herpesvirus 8-related disorder
| 102237 | Unexplained periodic fever syndrome
| 102283 | Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
| 102284 | Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
| 102285 | Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
| 102369 | Rare syndromic intellectual disability
| 102373 | Primary glomerular disease
| 102009 | Classic lissencephaly
| 102011 | Lissencephaly type 3
| 102010 | Other syndrome with lissencephaly as a major feature
| 102013 | Complex hereditary spastic paraplegia
| 102012 | Pure hereditary spastic paraplegia
| 102015 | Autosomal recessive limb-girdle muscular dystrophy
| 102014 | Autosomal dominant limb-girdle muscular dystrophy
| 102021 | Rickettsial disease
| 102020 | Autosomal monosomy
| 102023 | Typhus-group rickettsiosis
| 102022 | Spotted fever rickettsiosis
| 101934 | Genetic cardiac rhythm disease
| 101932 | Anomaly of the mitral subvalvular apparatus
| 101685 | Rare non-syndromic intellectual disability
| 101943 | Rare hepatic and biliary tract tumor
| 101940 | Rare metabolic liver disease
| 101941 | Rare biliary tract disease
| 101938 | Rare vascular liver disease
| 101939 | Rare parenchymal liver disease
| 101936 | Rare gastroesophageal disease

« Til de 100 forrige Til de 100 næste » 1 ... 81 82 83 84 85 86 87 ... 97

Handlinger tilknyttet webside

Send this