ATRIAL FIBRILLATION, FAMILIAL, 1
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(OMIM:608583)
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Acute intermittent porphyria
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(Orphanet:79276)
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Acute interstitial pneumonia
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(Orphanet:79126)
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Alström syndrome
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(Orphanet:64)
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Arterial calcification, generalized, of infancy, 1
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(OMIM:208000)
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Atrial fibrillation, familial, 3
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(OMIM:607554)
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Atrial fibrillation, familial, 7
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(OMIM:612240)
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Atrial tachyarrhythmia with short PR interval
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(Orphanet:844)
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Autosomal recessive limb-girdle muscular dystrophy type 2M
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(Orphanet:206554)
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Carbamoylphosphate synthetase deficiency
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(Orphanet:147)
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Cardiomyopathy, familial restrictive, 3
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(OMIM:612422)
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Deafness - small bowel diverticulosis - neuropathy
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(Orphanet:3217)
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Encephalopathy due to hydroxykynureninuria
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(Orphanet:79155)
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Fabry disease
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(Orphanet:324)
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Familial dysautonomia
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(Orphanet:1764)
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Familial hyperthyroidism due to mutations in TSH receptor
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(Orphanet:424)
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Familial sick sinus syndrome
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(Orphanet:166282)
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Fructose-1,6-bisphosphatase deficiency
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(Orphanet:348)
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Generalized congenital lipodystrophy with myopathy
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(Orphanet:228429)
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Glycogen storage disease due to glycogen branching enzyme deficiency
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(Orphanet:367)
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Hereditary coproporphyria
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(Orphanet:79273)
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Hereditary coproporphyria
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(Orphanet:79273)
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Hereditary myopathy with lactic acidosis due to ISCU deficiency
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(Orphanet:43115)
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Hereditary pheochromocytoma-paraganglioma
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(Orphanet:29072)
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Hereditary sensory and autonomic neuropathy type 6
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(Orphanet:314381)
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His bundle tachycardia
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(Orphanet:3283)
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Hyperinsulinism-hyperammonemia syndrome
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(Orphanet:35878)
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Idiopathic neonatal atrial flutter
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(Orphanet:45452)
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Idiopathic recurrent pericarditis
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(Orphanet:251307)
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King-Denborough syndrome
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(Orphanet:99741)
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Left ventricular noncompaction 10
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(OMIM:615396)
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Leprechaunism
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(Orphanet:508)
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Lymphoid interstitial pneumonia
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(Orphanet:79128)
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Malignant hyperthermia
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(Orphanet:423)
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Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
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(Orphanet:314637)
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Mucopolysaccharidosis type 2, severe form
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(Orphanet:217085)
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Neonatal hemochromatosis
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(Orphanet:446)
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PARAGANGLIOMAS 1
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(OMIM:168000)
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PARAGANGLIOMAS 1
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(OMIM:168000)
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PARAGANGLIOMAS 3
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(OMIM:605373)
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PARAGANGLIOMAS 3
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(OMIM:605373)
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PARAGANGLIOMAS 4
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(OMIM:115310)
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PGM1-CDG
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(Orphanet:319646)
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PHEOCHROMOCYTOMA--ISLET CELL TUMOR SYNDROME
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(OMIM:171420)
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PHEOCHROMOCYTOMAPHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
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(OMIM:171300)
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Paroxysmal extreme pain disorder
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(Orphanet:46348)
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Porphyria variegata
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(Orphanet:79473)
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Proximal myotonic myopathy
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(Orphanet:606)
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SHORT QT SYNDROME 3
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(OMIM:609622)
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Stiff person syndrome
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(Orphanet:3198)
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TRIMETHYLAMINURIA
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(OMIM:602079)
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Tako-Tsubo cardiomyopathy
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(Orphanet:66529)
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Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
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(Orphanet:3201)
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