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