The search resulted in 80 diseases.
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|---|---|---|---|
| Orphanet:104 | Leber hereditary optic neuropathy | ||
| Orphanet:111 | Barth syndrome | ||
| Orphanet:119 | Autosomal recessive limb-girdle muscular dystrophy type 2E | ||
| Orphanet:130 | Brugada syndrome | ||
| Orphanet:1342 | Heart-hand syndrome type 3 | ||
| Orphanet:1345 | Cardiomyopathy-cataract-hip spine disease | ||
| Orphanet:1350 | Heart-hand syndrome type 2 | ||
| Orphanet:137675 | Histiocytoid cardiomyopathy | ||
| Orphanet:154 | Familial isolated dilated cardiomyopathy | ||
| Orphanet:158 | Carnitine uptake deficiency | ||
| Orphanet:159 | Carnitine-acylcarnitine translocase deficiency | ||
| Orphanet:183 | Eosinophilic granulomatosis with polyangiitis | ||
| Orphanet:220393 | Diffuse cutaneous systemic sclerosis | ||
| Orphanet:220402 | Limited cutaneous systemic sclerosis | ||
| Orphanet:220407 | Limited systemic sclerosis | ||
| Orphanet:228429 | Generalized congenital lipodystrophy with myopathy | ||
| Orphanet:2331 | Kawasaki disease | ||
| Orphanet:26791 | Multiple acyl-CoA dehydrogenase deficiency | ||
| Orphanet:26793 | Very long chain acyl-CoA dehydrogenase deficiency | ||
| Orphanet:273 | Steinert myotonic dystrophy | ||
| Orphanet:289377 | Early-onset myopathy with fatal cardiomyopathy | ||
| Orphanet:2946 | Brachydactyly-long thumb syndrome | ||
| Orphanet:300751 | Familial dilated cardiomyopathy with conduction defect due to LMNA mutation | ||
| Orphanet:3071 | Costello syndrome | ||
| Orphanet:308552 | Glycogen storage disease due to acid maltase deficiency, infantile onset | ||
| Orphanet:314637 | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | ||
| Orphanet:314701 | Primary systemic amyloidosis | ||
| Orphanet:324 | Fabry disease | ||
| Orphanet:3282 | Multifocal atrial tachycardia | ||
| Orphanet:3283 | His bundle tachycardia | ||
| Orphanet:3286 | Catecholaminergic polymorphic ventricular tachycardia | ||
| Orphanet:3403 | Uhl anomaly | ||
| Orphanet:34217 | Naxos disease | ||
| Orphanet:34587 | Glycogen storage disease due to LAMP-2 deficiency | ||
| Orphanet:353 | Autosomal recessive limb-girdle muscular dystrophy type 2C | ||
| Orphanet:37553 | Cardiodysrhythmic potassium-sensitive periodic paralysis | ||
| Orphanet:392 | Holt-Oram syndrome | ||
| Orphanet:480 | Kearns-Sayre syndrome | ||
| Orphanet:5 | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | ||
| Orphanet:500 | Noonan syndrome with multiple lentigines | ||
| Orphanet:550 | MELAS | ||
| Orphanet:551 | MERRF | ||
| Orphanet:563 | Peripartum cardiomyopathy | ||
| Orphanet:59306 | McLeod neuroacanthocytosis syndrome | ||
| Orphanet:648 | Noonan syndrome | ||
| Orphanet:66529 | Tako-Tsubo cardiomyopathy | ||
| Orphanet:746 | Mitochondrial trifunctional protein deficiency | ||
| Orphanet:768 | Familial long QT syndrome | ||
| Orphanet:77259 | Gaucher disease type 1 | ||
| Orphanet:77260 | Gaucher disease type 2 | ||
| Orphanet:77261 | Gaucher disease type 3 | ||
| Orphanet:797 | Sarcoidosis | ||
| Orphanet:85443 | AL amyloidosis | ||
| Orphanet:85451 | ATTRV122I amyloidosis | ||
| Orphanet:871 | Familial progressive cardiac conduction defect | ||
| Orphanet:874 | Adult heart tumor | ||
| Orphanet:875 | Heart tumor of the child | ||
| Orphanet:90290 | CREST syndrome | ||
| Orphanet:90291 | Systemic sclerosis | ||
| Orphanet:91131 | DK1-CDG | ||
| Orphanet:93473 | Hurler syndrome | ||
| Orphanet:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | ||
| Orphanet:98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy | ||
| Orphanet:98863 | X-linked Emery-Dreifuss muscular dystrophy | ||
| Orphanet:98895 | Becker muscular dystrophy | ||
| Orphanet:98896 | Duchenne muscular dystrophy | ||
| Orphanet:98909 | Desminopathy | ||
| Orphanet:99718 | Leber plus disease | ||
| OMIM:182190 | Sinus node disease and myopia | ||
| OMIM:192600 | Cardiomyopathy, familial hypertrophic, 1 | ||
| OMIM:229300 | Friedreich ataxia 1 | ||
| OMIM:600858 | Cardiomyopathy, familial hypertrophic, 6 | ||
| OMIM:601154 | Cardiomyopathy, dilated, 1E | ||
| OMIM:607554 | Atrial fibrillation, familial, 3 | ||
| OMIM:612098 | Cardiomyopathy, familial hypertrophic, 11 | ||
| OMIM:613251 | Cardiomyopathy, familial hypertrophic, 14 | ||
| OMIM:614676 | Cardiomyopathy, familial hypertrophic, 21 | ||
| OMIM:615373 | Left ventricular noncompaction 8 | ||
| Orphanet:420429 | Glycogen storage disease due to acid maltase deficiency, late-onset | ||
| OMIM:615821 | Cardiomyopathy, dilated, with woolly hair, keratoderma, and toothagenesis |