orphafolder

| 443073 | Charcot-Marie-Tooth disease type 2S
| 442835 | Undetermined early-onset epileptic encephalopathy
| 442582 | AH amyloidosis
| 3276 | Disorder of plasmalogens biosynthesis
| 443197 | X-linked erythropoietic protoporphyria
| 443192 | Classic stiff person syndrome
| 443180 | Spontaneous intracranial hypotension
| 443173 | Postpartum psychosis
| 443291 | HIV-associated cancer
| 443287 | ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor
| 443236 | Postural orthostatic tachycardia syndrome due to NET deficiency
| 443227 | Paratyphoid fever
| 443098 | Hyperostosis cranialis interna
| 443095 | Hyperinsulinemic hypoglycaemia
| 443090 | 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
| 443087 | 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
| 443167 | NUT midline carcinoma
| 443162 | NDE1-related microhydranencephaly
| 443159 | Lymphoplasmacytic lymphoma without IgM production
| 443101 | Hypothalamic adipsic hypernatraemia syndrome
| 443804 | Focal stiff limb syndrome
| 443811 | PGM3-CDG
| 443909 | Hereditary nonpolyposis colon cancer
| 443950 | DNAJB2-related Charcot-Marie-Tooth disease type 2
| 443988 | Ventriculomegaly-cystic kidney disease
| 444092 | Autoimmune interstitial lung disease-arthritis syndrome
| 444099 | Autosomal dominant spastic paraplegia type 73
| 444116 | Hereditary amyloidosis
| 444138 | Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
| 444002 | 11q22.2q22.3 microdeletion syndrome
| 443995 | Mandibulofacial dysostosis with alopecia
| 444048 | 46,XX ovarian dysgenesis-short stature syndrome
| 444013 | Combined oxidative phosphorylation defect type 23
| 444069 | Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
| 444051 | 20q11.2 microdeletion syndrome
| 444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
| 444072 | Cerebellar-facial-dental syndrome
| 444463 | Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
| 444490 | Familial chylomicronemia syndrome
| 444316 | Idiopathic phalangeal acro-osteolysis
| 444458 | Combined oxidative phosphorylation defect type 24
| 445110 | Limb-girdle muscular dystrophy due to POMK deficiency
| 445062 | Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
| 445038 | 3-methylglutaconic aciduria type 7
| 445018 | Combined immunodeficiency due to LRBA deficiency
| 444941 | Caudal regression-sirenomelia spectrum
| 444916 | Pseudohypoaldosteronism
| 447731 | NIK deficiency
| 447737 | DOCK2 deficiency
| 447740 | Susceptibility to localized juvenile periodontitis
| 445197 | Secondary vasculitis
| 447881 | Idiopathic dropped head syndrome
| 447877 | Polymerase proofreading-related adenomatous polyposis
| 447896 | Tremor-ataxia-central hypomyelination syndrome
| 447893 | Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
| 447792 | Hemochromatosis type 5
| 447788 | Cerebral visual impairment
| 447874 | Biological anomaly without phenotypic characterization
| 447795 | Lipoyl transferase 2 deficiency
| 447774 | Secondary sclerosing cholangitis
| 447771 | Sclerosing cholangitis
| 447784 | Mitochondrial pyruvate carrier deficiency
| 447777 | Keratocystic odontogenic tumor
| 447757 | Autosomal dominant spastic paraplegia type 9B
| 447753 | Autosomal dominant spastic paraplegia type 9A
| 447764 | IgG4-related sclerosing cholangitis
| 447760 | Autosomal recessive spastic paraplegia type 9B
| 413667 | Antidepressant or antipsychotic toxicity or dose selection
| 413674 | Vitamin K antagonists toxicity or dose selection
| 413681 | Oral antidiabetic drugs toxicity or dose selection
| 413684 | Resistance to vitamin K antagonists
| 413687 | Azathioprine or 6-mercatopurine toxicity or dose selection
| 413690 | Methotrexate toxicity or dose selection
| 413693 | Curariform drugs toxicity
| 413696 | Statin toxicity
| 412066 | PRKAR1B-related neurodegenerative dementia with intermediate filaments
| 412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency
| 412181 | Epidermolysis bullosa simplex due to BP230 deficiency
| 412069 | AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
| 412189 | Epidermolysis bullosa simplex due to exophilin 5 deficiency
| 412217 | Dystonia-aphonia syndrome
| 412206 | Primary failure of tooth eruption
| 418959 | Squamous cell carcinoma of the stomach
| 418945 | Carcinoma of esophagus, salivary gland type
| 418951 | Undifferentiated carcinoma of esophagus
| 420259 | Secondary pulmonary alveolar proteinosis
| 420179 | Malan overgrowth syndrome
| 414726 | Genetic facial cleft
| 414750 | Phenytoin or carbamazepine toxicity
| 415286 | Bilirubin encephalopathy
| 420755 | Rare genetic odontal or periodontal disorder
| 420789 | Autoimmune encephalopathy with parasomnia and obstructive sleep apnea
| 420794 | Cono-spondylar dysplasia
| 420702 | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
| 420728 | Combined oxidative phosphorylation defect type 20
| 420733 | Combined oxidative phosphorylation defect type 21
| 420741 | RIDDLE syndrome
| 420492 | Adult-onset cervical dystonia, DYT23 type
| 420485 | Cranio-cervical dystonia with laryngeal and upper-limb involvement
| 420556 | Visual snow syndrome

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