Du er her: Forside / intranet / orphafolder

orphaentry | 217335 | RIN2 syndrome
orphaentry | 217340 | 17q21.31 microduplication syndrome
orphaentry | 3260 | Idiopathic hypereosinophilic syndrome
orphaentry | 217315 | Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome
orphaentry | 217330 | REN-related autosomal dominant tubulointerstitial kidney disease
orphaentry | 2086 | Optic pathway glioma
orphaentry | 2566 | Chronic Epstein-Barr virus infection syndrome
orphaentry | 3385 | African trypanosomiasis
orphaentry | 1560 | Cysticercosis
orphaentry | 566 | Congenital microcoria
orphaentry | 344 | Arbovirus fever
orphaentry | 341 | Viral hemorrhagic fever
orphaentry | 340 | Hemorrhagic fever-renal syndrome
orphaentry | 2552 | Microsporidiosis
orphaentry | 1171 | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
orphaentry | 1463 | Triatrial heart
orphaentry | 217560 | Neuroendocrine cell hyperplasia of infancy
orphaentry | 217557 | Pulmonary interstitial glycogenosis
orphaentry | 1686 | Cardiac diverticulum
orphaentry | 217566 | Chronic respiratory distress with surfactant metabolism deficiency
orphaentry | 217563 | Neonatal acute respiratory distress due to SP-B deficiency
orphaentry | 1864 | Congenital valvular dysplasia
orphaentry | 217407 | Hereditary hypotrichosis with recurrent skin vesicles
orphaentry | 1456 | Atypical coarctation of aorta
orphaentry | 217467 | Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
orphaentry | 217454 | Rare hereditary thrombophilia
orphaentry | 1457 | Aorta coarctation
orphaentry | 217390 | Combined immunodeficiency due to DOCK8 deficiency
orphaentry | 1132 | Aortic arch defects
orphaentry | 1138 | Abnormal origin of the pulmonary artery
orphaentry | 217385 | 17p13.3 microduplication syndrome
orphaentry | 1207 | Pulmonary atresia with ventricular septal defect
orphaentry | 217399 | Congenital insensitivity to pain with hyperhidrosis
orphaentry | 217396 | Progressive polyneuropathy with bilateral striatal necrosis
orphaentry | 982 | Pulmonary valve agenesis
orphaentry | 217371 | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
orphaentry | 217346 | 19q13.11 microdeletion syndrome
orphaentry | 980 | Absence of the pulmonary artery
orphaentry | 217382 | Neurodegenerative syndrome due to cerebral folate transport deficiency
orphaentry | 1054 | Aneurysm of sinus of Valsalva
orphaentry | 1081 | Coronary artery congenital malformation
orphaentry | 217377 | Microduplication Xp11.22p11.23 syndrome
orphaentry | 3091 | Congenital systemic veins anomaly
orphaentry | 217613 | Mitochondrial disease with dilated cardiomyopathy
orphaentry | 217616 | Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
orphaentry | 217619 | Syndrome associated with dilated cardiomyopathy
orphaentry | 3093 | Congenital aortic valve stenosis
orphaentry | 217622 | Sensorineural deafness with dilated cardiomyopathy
orphaentry | 3092 | Fixed subaortic stenosis
orphaentry | 217601 | Hypertrophic cardiomyopathy due to intensive athletic training
orphaentry | 217604 | Dilated cardiomyopathy
orphaentry | 2299 | Aortic arch interruption
orphaentry | 3427 | Double outlet left ventricle
orphaentry | 217607 | Familial dilated cardiomyopathy
orphaentry | 217610 | Neuromuscular disease with dilated cardiomyopathy
orphaentry | 3426 | Double outlet right ventricle
orphaentry | 439 | Isolated right ventricular hypoplasia
orphaentry | 217587 | Mitochondrial disease with hypertrophic cardiomyopathy
orphaentry | 217591 | Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
orphaentry | 422 | Idiopathic and/or familial pulmonary arterial hypertension
orphaentry | 217595 | Syndrome associated with hypertrophic cardiomyopathy
orphaentry | 2447 | Congenital mitral malformation
orphaentry | 217598 | Non-familial hypertrophic cardiomyopathy
orphaentry | 2038 | Pulmonary arteriovenous malformation
orphaentry | 217569 | Hypertrophic cardiomyopathy
orphaentry | 2037 | Congenital aortopulmonary window
orphaentry | 217572 | Glycogen storage disease with hypertrophic cardiomyopathy
orphaentry | 2041 | Coronary arterial fistulas
orphaentry | 217581 | Lysosomal disease with hypertrophic cardiomyopathy
orphaentry | 2039 | Congenital systemic arteriovenous fistula
orphaentry | 282 | Frontotemporal dementia
orphaentry | 331 | Congenital factor XIII deficiency
orphaentry | 217720 | Non-familial restrictive cardiomyopathy
orphaentry | 159 | Carnitine-acylcarnitine translocase deficiency
orphaentry | 542 | Primary cutaneous lymphoma
orphaentry | 707 | Plague
orphaentry | 217638 | Lysosomal disease with restrictive cardiomyopathy
orphaentry | 335 | Congenital fibrinogen deficiency
orphaentry | 217635 | Familial restrictive cardiomyopathy
orphaentry | 217632 | Restrictive cardiomyopathy
orphaentry | 217629 | Non-familial dilated cardiomyopathy
orphaentry | 217678 | Unclassified cardiomyopathy
orphaentry | 79 | Congenital alpha2-antiplasmin deficiency
orphaentry | 1070 | Anisakiasis
orphaentry | 217656 | Familial isolated arrhythmogenic right ventricular dysplasia
orphaentry | 1467 | Cogan syndrome
orphaentry | 2157 | Histidinemia
orphaentry | 220402 | Limited cutaneous systemic sclerosis
orphaentry | 3124 | Saccharopinuria
orphaentry | 220407 | Limited systemic sclerosis
orphaentry | 220386 | Semilobar holoprosencephaly
orphaentry | 2203 | Hyperlysinemia
orphaentry | 220393 | Diffuse cutaneous systemic sclerosis
orphaentry | 332 | Congenital intrinsic factor deficiency
orphaentry | 220448 | Macrothrombocytopenia with mitral valve insufficiency
orphaentry | 2967 | Transcobalamin I deficiency
orphaentry | 220452 | Isolated hereditary giant platelet disorder
orphaentry | 220436 | Quebec platelet disorder
orphaentry | 2168 | Homocarnosinosis
orphaentry | 2195 | Dicarboxylic aminoaciduria

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