commit 326b99d43fdc9b210d2f5df79018ef03614ea684 Author: davidlagorce Date: Tue Dec 9 16:49:50 2025 +0100 DECEMBER 2025 diff --git a/Rare diseases and classifications/Classifications of rare diseases/en_product3_146.xml b/Rare diseases and classifications/Classifications of rare diseases/en_product3_146.xml index 7ed2097..e975609 100755 --- a/Rare diseases and classifications/Classifications of rare diseases/en_product3_146.xml +++ b/Rare diseases and classifications/Classifications of rare diseases/en_product3_146.xml @@ -1,3066 +1,3054 @@ - - - - - Creative Commons Attribution 4.0 International - CC-BY-4.0 - https://creativecommons.org/licenses/by/4.0/legalcode - - - - - 156265 - Orphanet classification of rare cardiac diseases - - - - 97929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97929 - Rare cardiac disease - - Category - - - - - - 167848 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167848 - Rare cardiomyopathy - - Category - - - - - - 247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247 - Inherited arrhythmogenic cardiomyopathy - - Clinical group - - - - - - 34217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34217 - Naxos disease - - Disease - - - - - - - - 217656 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217656 - Inherited isolated arrhythmogenic cardiomyopathy - - Disease - - - - - - 293888 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293888 - Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant - - Clinical subtype - - - - - - - - 293899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293899 - Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant - - Clinical subtype - - - - - - - - 293910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293910 - Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant - - Clinical subtype - - - - - - - - - - - - 217569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217569 - Rare hypertrophic cardiomyopathy - - Category - - - - - - 99739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99739 - Rare familial disorder with hypertrophic cardiomyopathy - - Category - - - - - - 217572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217572 - Glycogen storage disease with hypertrophic cardiomyopathy - - Category - - - - - - 439854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439854 - Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease - - Disease - - - - - - - - 365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365 - Glycogen storage disease due to acid maltase deficiency - - Disease - - - - - - 308552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308552 - Glycogen storage disease due to acid maltase deficiency, infantile onset - - Clinical subtype - - - - - - - - 420429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420429 - Glycogen storage disease due to acid maltase deficiency, late-onset - - Clinical subtype - - - - - - - - - - 366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=366 - Glycogen storage disease due to glycogen debranching enzyme deficiency - - Disease - - - - - - - - 34587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34587 - Danon disease - - Disease - - - - - - - - 137625 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137625 - Glycogen storage disease due to muscle and heart glycogen synthase deficiency - - Disease - - - - - - - - - - 217581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217581 - Lysosomal disease with hypertrophic cardiomyopathy - - Category - - - - - - 118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=118 - Beta-mannosidosis - - Disease - - - - - - - - 349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=349 - Fucosidosis - - Disease - - - - - - - - 365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365 - Glycogen storage disease due to acid maltase deficiency - - Disease - - - - - - 308552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308552 - Glycogen storage disease due to acid maltase deficiency, infantile onset - - Clinical subtype - - - - - - - - 420429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420429 - Glycogen storage disease due to acid maltase deficiency, late-onset - - Clinical subtype - - - - - - - - - - 324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 - Fabry disease - - Disease - - - - - - - - 580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580 - Mucopolysaccharidosis type 2 - - Disease - - - - - - 217085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085 - Mucopolysaccharidosis type 2, severe form - - Clinical subtype - - - - - - - - 217093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093 - Mucopolysaccharidosis type 2, attenuated form - - Clinical subtype - - - - - - - - - - 93473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 - Hurler syndrome - - Clinical subtype - - - - - - - - 93476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476 - Hurler-Scheie syndrome - - Clinical subtype - - - - - - - - - - 217587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217587 - Mitochondrial disease with hypertrophic cardiomyopathy - - Category - - - - - - 550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550 - MELAS - - Disease - - - - - - - - 551 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551 - MERRF - - Disease - - - - - - - - 1349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1349 - Mitochondrial DNA-related cardiomyopathy and hearing loss - - Malformation syndrome - - - - - - - - 1369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1369 - Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome - - Disease - - - - - - - - 99718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99718 - Leber plus disease - - Disease - - - - - - - - 314637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314637 - Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency - - Disease - - - - - - - - 319678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319678 - Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome - - Disease - - - - - - - - 324525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324525 - Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation - - Disease - - - - - - - - 352563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352563 - Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency - - Disease - - - - - - - - 369913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369913 - Combined oxidative phosphorylation defect type 17 - - Disease - - - - - - - - 444013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444013 - Combined oxidative phosphorylation defect type 23 - - Disease - - - - - - - - 496790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496790 - Ocular anomalies-axonal neuropathy-developmental delay syndrome - - Disease - - - - - - - - 457185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457185 - Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome - - Disease - - - - - - - - 570491 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570491 - QRSL1-related combined oxidative phosphorylation defect - - Disease - - - - - - - - 656279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656279 - 1p36.33 duplication syndrome - - Disease - - - - - - - - - - 217591 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217591 - Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy - - Category - - - - - - 746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=746 - Mitochondrial trifunctional protein deficiency - - Disease - - - - - - - - 159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=159 - Carnitine-acylcarnitine translocase deficiency - - Disease - - - - - - - - 5 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=5 - Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency - - Disease - - - - - - - - 26791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26791 - Multiple acyl-CoA dehydrogenase deficiency - - Disease - - - - - - 394529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394529 - Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type - - Clinical subtype - - - - - - - - 394532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394532 - Multiple acyl-CoA dehydrogenase deficiency, mild type - - Clinical subtype - - - - - - - - - - 26793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26793 - Very long chain acyl-CoA dehydrogenase deficiency - - Disease - - - - - - - - 99901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99901 - Acyl-CoA dehydrogenase 9 deficiency - - Disease - - - - - - - - - - 217595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217595 - Syndrome associated with hypertrophic cardiomyopathy - - Category - - - - - - 95 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95 - Friedreich ataxia - - Disease - - - - - - - - 273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=273 - Steinert myotonic dystrophy - - Disease - - - - - - 589824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589824 - Childhood-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589827 - Juvenile-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589830 - Adult-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589833 - Late-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589821 - Congenital-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - - - 116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116 - Beckwith-Wiedemann syndrome - - Malformation syndrome - - - - - - 96076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076 - Beckwith-Wiedemann syndrome due to 11p15 microduplication - - Etiological subtype - - - - - - - - 96193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193 - Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 - - Etiological subtype - - - - - - - - 231117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117 - Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 - - Etiological subtype - - - - - - - - 231120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120 - Beckwith-Wiedemann syndrome due to CDKN1C mutation - - Etiological subtype - - - - - - - - 231127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127 - Beckwith-Wiedemann syndrome due to 11p15 microdeletion - - Etiological subtype - - - - - - - - 231130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130 - Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion - - Etiological subtype - - - - - - - - 238613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238613 - Beckwith-Wiedemann syndrome due to NSD1 mutation - - Etiological subtype - - - - - - - - - - 91130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91130 - Cardiomyopathy-hypotonia-lactic acidosis syndrome - - Disease - - - - - - - - 228012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228012 - Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome - - Disease - - - - - - - - 399058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399058 - Alpha-B crystallin-related late-onset myopathy - - Disease - - - - - - - - 98909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98909 - Desminopathy - - Disease - - - - - - - - 3071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071 - Costello syndrome - - Malformation syndrome - - - - - - - - 2701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701 - Noonan syndrome-like disorder with loose anagen hair - - Malformation syndrome - - - - - - - - 648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 - Noonan syndrome - - Malformation syndrome - - - - - - - - 500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500 - Noonan syndrome with multiple lentigines - - Malformation syndrome - - - - - - - - 363972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363972 - Noonan syndrome-like disorder with juvenile myelomonocytic leukemia - - Malformation syndrome - - - - - - - - 1340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340 - Cardiofaciocutaneous syndrome - - Malformation syndrome - - - - - - - - 693647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693647 - Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome - - Disease - - - - - - - - - - - - 217598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217598 - Non-familial hypertrophic cardiomyopathy - - Category - - - - - - 1926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1926 - Diabetic embryopathy - - Malformation syndrome - - - - - - - - 85443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85443 - AL amyloidosis - - Disease - - - - - - 314701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314701 - Primary systemic amyloidosis - - Clinical subtype - - - - - - - - 314709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314709 - Primary localized amyloidosis - - Clinical subtype - - - - - - - - - - - - - - 217604 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217604 - Dilated cardiomyopathy - - Category - - - - - - 217607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217607 - Familial dilated cardiomyopathy - - Category - - - - - - 2119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2119 - HEC syndrome - - Malformation syndrome - - - - - - - - 367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=367 - Glycogen storage disease due to glycogen branching enzyme deficiency - - Disease - - - - - - 206583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206583 - Adult polyglucosan body disease - - Clinical subtype - - - - - - - - 308621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308621 - Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form - - Clinical subtype - - - - - - - - 308638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308638 - Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form - - Clinical subtype - - - - - - - - 308655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308655 - Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form - - Clinical subtype - - - - - - - - 308670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308670 - Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form - - Clinical subtype - - - - - - - - 308684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308684 - Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form - - Clinical subtype - - - - - - - - 308698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308698 - Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form - - Clinical subtype - - - - - - - - 308712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308712 - Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form - - Clinical subtype - - - - - - - - - - 154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=154 - Familial isolated dilated cardiomyopathy - - Disease - - - - - - - - 217610 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217610 - Neuromuscular disease with dilated cardiomyopathy - - Category - - - - - - 262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262 - Duchenne and Becker muscular dystrophy - - Clinical group - - - - - - 98895 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98895 - Becker muscular dystrophy - - Disease - - - - - - - - 98896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98896 - Duchenne muscular dystrophy - - Disease - - - - - - - - 206546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206546 - Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers - - Disease - - - - - - - - - - 261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261 - Emery-Dreifuss muscular dystrophy - - Disease - - - - - - 98853 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98853 - Autosomal dominant Emery-Dreifuss muscular dystrophy - - Etiological subtype - - - - - - - - 98855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98855 - Autosomal recessive Emery-Dreifuss muscular dystrophy - - Etiological subtype - - - - - - - - 98863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98863 - X-linked Emery-Dreifuss muscular dystrophy - - Etiological subtype - - - - - - - - - - 62 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=62 - Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 - - Disease - - - - - - - - 119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=119 - Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 - - Disease - - - - - - - - 353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353 - Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 - - Disease - - - - - - - - 219 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=219 - Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 - - Disease - - - - - - - - 98909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98909 - Desminopathy - - Disease - - - - - - - - 206554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206554 - Fukutin-related limb-girdle muscular dystrophy R13 - - Disease - - - - - - - - 289377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289377 - Early-onset myopathy with fatal cardiomyopathy - - Disease - - - - - - - - 397937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397937 - Polyglucosan body myopathy type 1 - - Disease - - - - - - - - - - 217613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217613 - Mitochondrial disease with dilated cardiomyopathy - - Category - - - - - - 480 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480 - Kearns-Sayre syndrome - - Disease - - - - - - - - 550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550 - MELAS - - Disease - - - - - - - - 551 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551 - MERRF - - Disease - - - - - - - - 111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=111 - Barth syndrome - - Disease - - - - - - - - 99718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99718 - Leber plus disease - - Disease - - - - - - - - 137675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137675 - Histiocytoid cardiomyopathy - - Disease - - - - - - - - - - 217616 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217616 - Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy - - Category - - - - - - 158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158 - Systemic primary carnitine deficiency - - Disease - - - - - - - - 99901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99901 - Acyl-CoA dehydrogenase 9 deficiency - - Disease - - - - - - - - - - 217619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217619 - Syndrome associated with dilated cardiomyopathy - - Category - - - - - - 64 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64 - Alström syndrome - - Disease - - - - - - - - 1345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1345 - Cardiomyopathy-cataract-hip spine disease syndrome - - Disease - - - - - - - - 1493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493 - Vici syndrome - - Malformation syndrome - - - - - - - - 1606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1606 - 1p36 deletion syndrome - - Malformation syndrome - - - - - - - - 2229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2229 - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - - Malformation syndrome - - - - - - - - 2515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2515 - Microcephaly-cardiomyopathy syndrome - - Malformation syndrome - - - - - - - - 59306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59306 - McLeod neuroacanthocytosis syndrome - - Disease - - - - - - - - 65282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65282 - Carvajal syndrome - - Disease - - - - - - - - 66634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66634 - Dilated cardiomyopathy with ataxia - - Disease - - - - - - - - 73224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73224 - Kidney tubulopathy-dilated cardiomyopathy syndrome - - Disease - - - - - - - - 79159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79159 - Isobutyryl-CoA dehydrogenase deficiency - - Disease - - - - - - - - 168796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168796 - Heart-hand syndrome, Slovenian type - - Malformation syndrome - - - - - - - - 217622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217622 - Sensorineural deafness with dilated cardiomyopathy - - Disease - - - - - - - - 476096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476096 - Erythrokeratodermia-cardiomyopathy syndrome - - Disease - - - - - - - - 2663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2663 - Nathalie syndrome - - Malformation syndrome - - - - - - - - - - 300751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300751 - Familial dilated cardiomyopathy with conduction defect due to LMNA mutation - - Disease - - - - - - - - 371176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371176 - Congenital disorder of glycosylation with dilated cardiomyopathy - - Category - - - - - - 91131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91131 - DK1-CDG - - Disease - - - - - - - - 206554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206554 - Fukutin-related limb-girdle muscular dystrophy R13 - - Disease - - - - - - - - 263494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263494 - DPM3-CDG - - Disease - - - - - - - - 319646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319646 - PGM1-CDG - - Disease - - - - - - - - - - 34587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34587 - Danon disease - - Disease - - - - - - - - - - 217629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217629 - Non-familial dilated cardiomyopathy - - Category - - - - - - 2022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2022 - Endocardial fibroelastosis - - Disease - - - - - - - - 563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563 - Peripartum cardiomyopathy - - Disease - - - - - - - - 324767 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324767 - Non-familial rare disease with dilated cardiomyopathy - - Category - - - - - - 2119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2119 - HEC syndrome - - Malformation syndrome - - - - - - - - 183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183 - Eosinophilic granulomatosis with polyangiitis - - Disease - - - - - - - - - - - - - - 217632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217632 - Restrictive cardiomyopathy - - Category - - - - - - 217635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217635 - Familial restrictive cardiomyopathy - - Category - - - - - - 2119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2119 - HEC syndrome - - Malformation syndrome - - - - - - - - 1344 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1344 - Isolated atrial standstill - - Disease - - - - - - - - 758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=758 - Pseudoxanthoma elasticum - - Disease - - - - - - - - 75249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75249 - Familial isolated restrictive cardiomyopathy - - Disease - - - - - - - - 271861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271861 - Hereditary ATTR amyloidosis - - Disease - - - - - - 85451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85451 - ATTRV122I amyloidosis - - Clinical subtype - - - - - - - - 85447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85447 - ATTRV30M amyloidosis - - Clinical subtype - - - - - - - - - - 98909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98909 - Desminopathy - - Disease - - - - - - - - 217638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217638 - Lysosomal disease with restrictive cardiomyopathy - - Category - - - - - - 365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365 - Glycogen storage disease due to acid maltase deficiency - - Disease - - - - - - 308552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308552 - Glycogen storage disease due to acid maltase deficiency, infantile onset - - Clinical subtype - - - - - - - - 420429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420429 - Glycogen storage disease due to acid maltase deficiency, late-onset - - Clinical subtype - - - - - - - - - - 324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 - Fabry disease - - Disease - - - - - - - - 77259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259 - Gaucher disease type 1 - - Clinical subtype - - - - - - - - 93473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 - Hurler syndrome - - Clinical subtype - - - - - - - - - - - - 217720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217720 - Non-familial restrictive cardiomyopathy - - Category - - - - - - 2022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2022 - Endocardial fibroelastosis - - Disease - - - - - - - - 2119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2119 - HEC syndrome - - Malformation syndrome - - - - - - - - 797 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=797 - Sarcoidosis - - Disease - - - - - - - - 75565 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75565 - Tropical endomyocardial fibrosis - - Disease - - - - - - - - 75566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75566 - Loeffler endocarditis - - Disease - - - - - - - - 85445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85445 - AA amyloidosis - - Disease - - - - - - - - 90291 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90291 - Systemic sclerosis - - Disease - - - - - - 220393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220393 - Diffuse cutaneous systemic sclerosis - - Clinical subtype - - - - - - - - 220402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220402 - Limited cutaneous systemic sclerosis - - Clinical subtype - - - - - - - - 220407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220407 - Limited systemic sclerosis - - Clinical subtype - - - - - - - - - - 168956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168956 - Hypereosinophilic syndrome - - Clinical group - - - - - - 314962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314962 - Secondary hypereosinophilic syndrome - - Disease - - - - - - 314970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314970 - Lymphocytic hypereosinophilic syndrome - - Clinical subtype - - - - - - - - - - 3260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3260 - Idiopathic hypereosinophilic syndrome - - Disease - - - - - - - - 314950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314950 - Primary hypereosinophilic syndrome - - Disease - - - - - - - - - - 570762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570762 - Infective endocarditis - - Disease - - - - - - - - 330001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330001 - Wild type ATTR amyloidosis - - Disease - - - - - - - - 85443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85443 - AL amyloidosis - - Disease - - - - - - 314701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314701 - Primary systemic amyloidosis - - Clinical subtype - - - - - - - - 314709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314709 - Primary localized amyloidosis - - Clinical subtype - - - - - - - - - - - - - - 217678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217678 - Unclassified cardiomyopathy - - Category - - - - - - 692305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692305 - Triglyceride deposit cardiomyovasculopathy - - Disease - - - - - - 692296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692296 - Idiopathic triglyceride deposit cardiomyovasculopathy - - Etiological subtype - - - - - - - - 565612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565612 - Primary triglyceride deposit cardiomyovasculopathy - - Etiological subtype - - - - - - - - - - 3403 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3403 - Uhl anomaly - - Morphological anomaly - - - - - - - - 54260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54260 - Left ventricular noncompaction - - Disease - - - - - - - - 66529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66529 - Tako-Tsubo cardiomyopathy - - Disease - - - - - - - - 478049 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478049 - Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome - - Disease - - - - - - - - - - 329874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329874 - Idiopathic giant cell myocarditis - - Disease - - - - - - - - - - 168194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168194 - Rare cardiac tumor - - Category - - - - - - 1359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1359 - Carney complex - - Disease - - - - - - - - 615 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615 - Familial atrial myxoma - - Disease - - - - - - - - 874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=874 - Primary adult heart tumor - - Disease - - - - - - - - 875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=875 - Primary pediatric heart tumor - - Disease - - - - - - - - 319340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319340 - Carney complex-trismus-pseudocamptodactyly syndrome - - Disease - - - - - - - - 685004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685004 - Primary pericardial mesothelioma - - Disease - - - - - - - - - - 218436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=218436 - Rare cardiac rhythm disease - - Category - - - - - - 101934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101934 - Genetic cardiac rhythm disease - - Category - - - - - - 768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=768 - Congenital long QT syndrome - - Clinical group - - - - - - 65283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65283 - Timothy syndrome - - Malformation syndrome - - - - - - 595098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595098 - Timothy syndrome type 1 - - Clinical subtype - - - - - - - - 595105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595105 - Timothy syndrome type 2 - - Clinical subtype - - - - - - - - 595109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595109 - Atypical Timothy syndrome - - Clinical subtype - - - - - - - - - - 90647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90647 - Jervell and Lange-Nielsen syndrome - - Disease - - - - - - - - 101016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101016 - Romano-Ward syndrome - - Disease - - - - - - - - - - 871 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=871 - Hereditary progressive cardiac conduction defect - - Disease - - - - - - - - 1344 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1344 - Isolated atrial standstill - - Disease - - - - - - - - 392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392 - Holt-Oram syndrome - - Malformation syndrome - - - - - - - - 1342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1342 - Heart-hand syndrome type 3 - - Malformation syndrome - - - - - - - - 1350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1350 - Heart-hand syndrome type 2 - - Malformation syndrome - - - - - - - - 2946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2946 - Brachydactyly-long thumb syndrome - - Malformation syndrome - - - - - - - - 1479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1479 - Atrial septal defect-atrioventricular conduction defects syndrome - - Malformation syndrome - - - - - - - - 3283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3283 - His bundle tachycardia - - Disease - - - - - - - - 3286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3286 - Catecholaminergic polymorphic ventricular tachycardia - - Disease - - - - - - - - 130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=130 - Brugada syndrome - - Disease - - - - - - - - 334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=334 - Hereditary atrial fibrillation - - Disease - - - - - - - - 37553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37553 - Andersen-Tawil syndrome - - Disease - - - - - - - - 51083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51083 - Congenital short QT syndrome - - Disease - - - - - - - - 51084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51084 - Torsade-de-pointes syndrome with short coupling interval - - Disease - - - - - - - - 60041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60041 - Congenital heart block - - Disease - - - - - - - - 137675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137675 - Histiocytoid cardiomyopathy - - Disease - - - - - - - - 166282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166282 - Hereditary sick sinus syndrome - - Disease - - - - - - - - 168796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168796 - Heart-hand syndrome, Slovenian type - - Malformation syndrome - - - - - - - - 228012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228012 - Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome - - Disease - - - - - - - - 228140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228140 - Idiopathic ventricular fibrillation - - Disease - - - - - - - - 324321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324321 - Sinoatrial node dysfunction and deafness - - Disease - - - - - - - - 324410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324410 - X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome - - Disease - - - - - - - - 435988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435988 - Chronic atrial and intestinal dysrhythmia syndrome - - Disease - - - - - - - - 436242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436242 - Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease - - Disease - - - - - - - - 480864 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480864 - Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome - - Disease - - - - - - - - 542306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542306 - GNB5-related intellectual disability-cardiac arrhythmia syndrome - - Disease - - - - - - - - 476084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476084 - BVES-related limb-girdle muscular dystrophy - - Disease - - - - - - - - - - 218439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=218439 - Non-genetic cardiac rhythm disease - - Category - - - - - - 3282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3282 - Multifocal atrial tachycardia - - Disease - - - - - - - - 45452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45452 - Idiopathic neonatal atrial flutter - - Disease - - - - - - - - 45453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45453 - Incessant infant ventricular tachycardia - - Disease - - - - - - - - - - - - 363618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363618 - LMNA-related cardiocutaneous progeria syndrome - - Disease - - - - - - - - 97292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97292 - Cardiogenic shock - - Particular clinical situation in a disease or syndrome - - - - - - - - 458718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458718 - Idiopathic spontaneous coronary artery dissection - - Disease - - - - - - - - 263352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263352 - Postcardiotomy right ventricular failure - - Particular clinical situation in a disease or syndrome - - - - - - - - - - - + + + + + Creative Commons Attribution 4.0 International + CC-BY-4.0 + https://creativecommons.org/licenses/by/4.0/legalcode + + + + + 156265 + Orphanet classification of rare cardiac diseases + + + + 97929 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97929 + Rare cardiac disease + + Category + + + + + + 167848 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167848 + Rare cardiomyopathy + + Category + + + + + + 247 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247 + Inherited arrhythmogenic cardiomyopathy + + Clinical group + + + + + + 34217 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34217 + Naxos disease + + Disease + + + + + + + + 217656 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217656 + Inherited isolated arrhythmogenic cardiomyopathy + + Disease + + + + + + 293888 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293888 + Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant + + Clinical subtype + + + + + + + + 293899 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293899 + Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant + + Clinical subtype + + + + + + + + 293910 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293910 + Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant + + Clinical subtype + + + + + + + + + + + + 217569 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217569 + Rare hypertrophic cardiomyopathy + + Category + + + + + + 99739 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99739 + Rare familial disorder with hypertrophic cardiomyopathy + + Category + + + + + + 217572 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217572 + Glycogen storage disease with hypertrophic cardiomyopathy + + Category + + + + + + 439854 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439854 + Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease + + Disease + + + + + + + + 365 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365 + Glycogen storage disease due to acid maltase deficiency + + Disease + + + + + + 308552 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308552 + Glycogen storage disease due to acid maltase deficiency, infantile onset + + Clinical subtype + + + + + + + + 420429 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420429 + Glycogen storage disease due to acid maltase deficiency, late-onset + + Clinical subtype + + + + + + + + + + 366 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=366 + Glycogen storage disease due to glycogen debranching enzyme deficiency + + Disease + + + + + + + + 34587 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34587 + Danon disease + + Disease + + + + + + + + 137625 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137625 + Glycogen storage disease due to muscle and heart glycogen synthase deficiency + + Disease + + + + + + + + + + 217581 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217581 + Lysosomal disease with hypertrophic cardiomyopathy + + Category + + + + + + 118 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=118 + Beta-mannosidosis + + Disease + + + + + + + + 349 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=349 + Fucosidosis + + Disease + + + + + + + + 365 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365 + Glycogen storage disease due to acid maltase deficiency + + Disease + + + + + + 308552 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308552 + Glycogen storage disease due to acid maltase deficiency, infantile onset + + Clinical subtype + + + + + + + + 420429 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420429 + Glycogen storage disease due to acid maltase deficiency, late-onset + + Clinical subtype + + + + + + + + + + 324 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 + Fabry disease + + Disease + + + + + + + + 580 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580 + Mucopolysaccharidosis type 2 + + Disease + + + + + + 217085 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085 + Mucopolysaccharidosis type 2, severe form + + Clinical subtype + + + + + + + + 217093 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093 + Mucopolysaccharidosis type 2, attenuated form + + Clinical subtype + + + + + + + + + + 93473 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 + Hurler syndrome + + Clinical subtype + + + + + + + + 93476 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476 + Hurler-Scheie syndrome + + Clinical subtype + + + + + + + + + + 217587 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217587 + Mitochondrial disease with hypertrophic cardiomyopathy + + Category + + + + + + 550 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550 + MELAS + + Disease + + + + + + + + 551 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551 + MERRF + + Disease + + + + + + + + 1349 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1349 + Mitochondrial DNA-related cardiomyopathy and hearing loss + + Malformation syndrome + + + + + + + + 1369 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1369 + Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome + + Disease + + + + + + + + 99718 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99718 + Leber plus disease + + Disease + + + + + + + + 314637 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314637 + Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency + + Disease + + + + + + + + 319678 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319678 + Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome + + Disease + + + + + + + + 324525 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324525 + Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation + + Disease + + + + + + + + 352563 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352563 + Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency + + Disease + + + + + + + + 369913 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369913 + Combined oxidative phosphorylation defect type 17 + + Disease + + + + + + + + 444013 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444013 + Combined oxidative phosphorylation defect type 23 + + Disease + + + + + + + + 496790 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496790 + Ocular anomalies-axonal neuropathy-developmental delay syndrome + + Disease + + + + + + + + 457185 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457185 + Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome + + Disease + + + + + + + + 570491 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570491 + QRSL1-related combined oxidative phosphorylation defect + + Disease + + + + + + + + 656279 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656279 + 1p36.33 duplication syndrome + + Disease + + + + + + + + + + 217591 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217591 + Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy + + Category + + + + + + 746 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=746 + Mitochondrial trifunctional protein deficiency + + Disease + + + + + + + + 159 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=159 + Carnitine-acylcarnitine translocase deficiency + + Disease + + + + + + + + 5 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=5 + Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency + + Disease + + + + + + + + 26791 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26791 + Multiple acyl-CoA dehydrogenase deficiency + + Disease + + + + + + 394529 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394529 + Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type + + Clinical subtype + + + + + + + + 394532 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394532 + Multiple acyl-CoA dehydrogenase deficiency, mild type + + Clinical subtype + + + + + + + + + + 26793 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26793 + Very long chain acyl-CoA dehydrogenase deficiency + + Disease + + + + + + + + 99901 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99901 + Acyl-CoA dehydrogenase 9 deficiency + + Disease + + + + + + + + + + 217595 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217595 + Syndrome associated with hypertrophic cardiomyopathy + + Category + + + + + + 95 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95 + Friedreich ataxia + + Disease + + + + + + + + 273 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=273 + Steinert myotonic dystrophy + + Disease + + + + + + 589824 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589824 + Childhood-onset Steinert myotonic dystrophy + + Clinical subtype + + + + + + + + 589827 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589827 + Juvenile-onset Steinert myotonic dystrophy + + Clinical subtype + + + + + + + + 589830 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589830 + Adult-onset Steinert myotonic dystrophy + + Clinical subtype + + + + + + + + 589833 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589833 + Late-onset Steinert myotonic dystrophy + + Clinical subtype + + + + + + + + 589821 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589821 + Congenital-onset Steinert myotonic dystrophy + + Clinical subtype + + + + + + + + + + 116 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116 + Beckwith-Wiedemann syndrome + + Malformation syndrome + + + + + + 96076 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076 + Beckwith-Wiedemann syndrome due to 11p15 microduplication + + Etiological subtype + + + + + + + + 96193 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193 + Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 + + Etiological subtype + + + + + + + + 231117 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117 + Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 + + Etiological subtype + + + + + + + + 231120 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120 + Beckwith-Wiedemann syndrome due to CDKN1C mutation + + Etiological subtype + + + + + + + + 231127 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127 + Beckwith-Wiedemann syndrome due to 11p15 microdeletion + + Etiological subtype + + + + + + + + 231130 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130 + Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion + + Etiological subtype + + + + + + + + + + 91130 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91130 + Cardiomyopathy-hypotonia-lactic acidosis syndrome + + Disease + + + + + + + + 228012 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228012 + Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome + + Disease + + + + + + + + 399058 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399058 + Alpha-B crystallin-related late-onset myopathy + + Disease + + + + + + + + 98909 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98909 + Desminopathy + + Disease + + + + + + + + 3071 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071 + Costello syndrome + + Malformation syndrome + + + + + + + + 2701 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701 + Noonan syndrome-like disorder with loose anagen hair + + Malformation syndrome + + + + + + + + 648 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 + Noonan syndrome + + Malformation syndrome + + + + + + + + 500 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500 + Noonan syndrome with multiple lentigines + + Malformation syndrome + + + + + + + + 363972 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363972 + Noonan syndrome-like disorder with juvenile myelomonocytic leukemia + + Malformation syndrome + + + + + + + + 1340 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340 + Cardiofaciocutaneous syndrome + + Malformation syndrome + + + + + + + + 693647 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693647 + Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome + + Disease + + + + + + + + + + + + 217598 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217598 + Non-familial hypertrophic cardiomyopathy + + Category + + + + + + 1926 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1926 + Diabetic embryopathy + + Malformation syndrome + + + + + + + + 85443 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85443 + AL amyloidosis + + Disease + + + + + + 314701 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314701 + Primary systemic amyloidosis + + Clinical subtype + + + + + + + + 314709 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314709 + Primary localized amyloidosis + + Clinical subtype + + + + + + + + + + + + + + 217604 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217604 + Dilated cardiomyopathy + + Category + + + + + + 217607 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217607 + Familial dilated cardiomyopathy + + Category + + + + + + 2119 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2119 + HEC syndrome + + Malformation syndrome + + + + + + + + 367 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=367 + Glycogen storage disease due to glycogen branching enzyme deficiency + + Disease + + + + + + 206583 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206583 + Adult polyglucosan body disease + + Clinical subtype + + + + + + + + 308621 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308621 + Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form + + Clinical subtype + + + + + + + + 308638 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308638 + Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form + + Clinical subtype + + + + + + + + 308655 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308655 + Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form + + Clinical subtype + + + + + + + + 308670 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308670 + Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form + + Clinical subtype + + + + + + + + 308684 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308684 + Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form + + Clinical subtype + + + + + + + + 308698 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308698 + Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form + + Clinical subtype + + + + + + + + 308712 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308712 + Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form + + Clinical subtype + + + + + + + + + + 154 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=154 + Familial isolated dilated cardiomyopathy + + Disease + + + + + + + + 217610 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217610 + Neuromuscular disease with dilated cardiomyopathy + + Category + + + + + + 262 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262 + Duchenne and Becker muscular dystrophy + + Clinical group + + + + + + 98895 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98895 + Becker muscular dystrophy + + Disease + + + + + + + + 98896 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98896 + Duchenne muscular dystrophy + + Disease + + + + + + + + 206546 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206546 + Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers + + Disease + + + + + + + + + + 261 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261 + Emery-Dreifuss muscular dystrophy + + Disease + + + + + + 98853 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98853 + Autosomal dominant Emery-Dreifuss muscular dystrophy + + Etiological subtype + + + + + + + + 98855 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98855 + Autosomal recessive Emery-Dreifuss muscular dystrophy + + Etiological subtype + + + + + + + + 98863 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98863 + X-linked Emery-Dreifuss muscular dystrophy + + Etiological subtype + + + + + + + + + + 62 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=62 + Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 + + Disease + + + + + + + + 119 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=119 + Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 + + Disease + + + + + + + + 353 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353 + Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 + + Disease + + + + + + + + 219 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=219 + Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 + + Disease + + + + + + + + 98909 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98909 + Desminopathy + + Disease + + + + + + + + 206554 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206554 + Fukutin-related limb-girdle muscular dystrophy R13 + + Disease + + + + + + + + 289377 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289377 + Early-onset myopathy with fatal cardiomyopathy + + Disease + + + + + + + + 397937 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397937 + Polyglucosan body myopathy type 1 + + Disease + + + + + + + + + + 217613 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217613 + Mitochondrial disease with dilated cardiomyopathy + + Category + + + + + + 480 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480 + Kearns-Sayre syndrome + + Disease + + + + + + + + 550 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550 + MELAS + + Disease + + + + + + + + 551 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551 + MERRF + + Disease + + + + + + + + 111 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=111 + Barth syndrome + + Disease + + + + + + + + 99718 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99718 + Leber plus disease + + Disease + + + + + + + + 137675 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137675 + Histiocytoid cardiomyopathy + + Disease + + + + + + + + + + 217616 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217616 + Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy + + Category + + + + + + 158 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158 + Systemic primary carnitine deficiency + + Disease + + + + + + + + 99901 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99901 + Acyl-CoA dehydrogenase 9 deficiency + + Disease + + + + + + + + + + 217619 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217619 + Syndrome associated with dilated cardiomyopathy + + Category + + + + + + 64 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64 + Alström syndrome + + Disease + + + + + + + + 1345 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1345 + Cardiomyopathy-cataract-hip spine disease syndrome + + Disease + + + + + + + + 1493 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493 + Vici syndrome + + Malformation syndrome + + + + + + + + 1606 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1606 + 1p36 deletion syndrome + + Malformation syndrome + + + + + + + + 2229 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2229 + Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome + + Malformation syndrome + + + + + + + + 2515 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2515 + Microcephaly-cardiomyopathy syndrome + + Malformation syndrome + + + + + + + + 59306 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59306 + McLeod neuroacanthocytosis syndrome + + Disease + + + + + + + + 65282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65282 + Carvajal syndrome + + Disease + + + + + + + + 66634 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66634 + Dilated cardiomyopathy with ataxia + + Disease + + + + + + + + 73224 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73224 + Kidney tubulopathy-dilated cardiomyopathy syndrome + + Disease + + + + + + + + 79159 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79159 + Isobutyryl-CoA dehydrogenase deficiency + + Disease + + + + + + + + 168796 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168796 + Heart-hand syndrome, Slovenian type + + Malformation syndrome + + + + + + + + 217622 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217622 + Sensorineural deafness with dilated cardiomyopathy + + Disease + + + + + + + + 476096 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476096 + Erythrokeratodermia-cardiomyopathy syndrome + + Disease + + + + + + + + 2663 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2663 + Nathalie syndrome + + Malformation syndrome + + + + + + + + + + 300751 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300751 + Familial dilated cardiomyopathy with conduction defect due to LMNA mutation + + Disease + + + + + + + + 371176 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371176 + Congenital disorder of glycosylation with dilated cardiomyopathy + + Category + + + + + + 91131 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91131 + DK1-CDG + + Disease + + + + + + + + 206554 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206554 + Fukutin-related limb-girdle muscular dystrophy R13 + + Disease + + + + + + + + 263494 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263494 + DPM3-CDG + + Disease + + + + + + + + 319646 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319646 + PGM1-CDG + + Disease + + + + + + + + + + 34587 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34587 + Danon disease + + Disease + + + + + + + + + + 217629 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217629 + Non-familial dilated cardiomyopathy + + Category + + + + + + 2022 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2022 + Endocardial fibroelastosis + + Disease + + + + + + + + 563 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563 + Peripartum cardiomyopathy + + Disease + + + + + + + + 324767 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324767 + Non-familial rare disease with dilated cardiomyopathy + + Category + + + + + + 2119 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2119 + HEC syndrome + + Malformation syndrome + + + + + + + + 183 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183 + Eosinophilic granulomatosis with polyangiitis + + Disease + + + + + + + + + + + + + + 217632 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217632 + Restrictive cardiomyopathy + + Category + + + + + + 217635 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217635 + Familial restrictive cardiomyopathy + + Category + + + + + + 2119 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2119 + HEC syndrome + + Malformation syndrome + + + + + + + + 1344 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1344 + Isolated atrial standstill + + Disease + + + + + + + + 758 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=758 + Pseudoxanthoma elasticum + + Disease + + + + + + + + 75249 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75249 + Familial isolated restrictive cardiomyopathy + + Disease + + + + + + + + 271861 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271861 + Hereditary ATTR amyloidosis + + Disease + + + + + + 85451 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85451 + ATTRV122I amyloidosis + + Clinical subtype + + + + + + + + 85447 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85447 + ATTRV30M amyloidosis + + Clinical subtype + + + + + + + + + + 98909 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98909 + Desminopathy + + Disease + + + + + + + + 217638 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217638 + Lysosomal disease with restrictive cardiomyopathy + + Category + + + + + + 365 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365 + Glycogen storage disease due to acid maltase deficiency + + Disease + + + + + + 308552 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308552 + Glycogen storage disease due to acid maltase deficiency, infantile onset + + Clinical subtype + + + + + + + + 420429 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420429 + Glycogen storage disease due to acid maltase deficiency, late-onset + + Clinical subtype + + + + + + + + + + 324 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 + Fabry disease + + Disease + + + + + + + + 77259 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259 + Gaucher disease type 1 + + Clinical subtype + + + + + + + + 93473 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 + Hurler syndrome + + Clinical subtype + + + + + + + + + + + + 217720 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217720 + Non-familial restrictive cardiomyopathy + + Category + + + + + + 2022 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2022 + Endocardial fibroelastosis + + Disease + + + + + + + + 2119 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2119 + HEC syndrome + + Malformation syndrome + + + + + + + + 797 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=797 + Sarcoidosis + + Disease + + + + + + + + 75565 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75565 + Tropical endomyocardial fibrosis + + Disease + + + + + + + + 75566 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75566 + Loeffler endocarditis + + Disease + + + + + + + + 85445 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85445 + AA amyloidosis + + Disease + + + + + + + + 90291 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90291 + Systemic sclerosis + + Disease + + + + + + 220393 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220393 + Diffuse cutaneous systemic sclerosis + + Clinical subtype + + + + + + + + 220402 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220402 + Limited cutaneous systemic sclerosis + + Clinical subtype + + + + + + + + 220407 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220407 + Limited systemic sclerosis + + Clinical subtype + + + + + + + + + + 168956 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168956 + Hypereosinophilic syndrome + + Clinical group + + + + + + 314962 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314962 + Secondary hypereosinophilic syndrome + + Disease + + + + + + 314970 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314970 + Lymphocytic hypereosinophilic syndrome + + Clinical subtype + + + + + + + + + + 3260 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3260 + Idiopathic hypereosinophilic syndrome + + Disease + + + + + + + + 314950 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314950 + Primary hypereosinophilic syndrome + + Disease + + + + + + + + + + 570762 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570762 + Infective endocarditis + + Disease + + + + + + + + 330001 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330001 + Wild type ATTR amyloidosis + + Disease + + + + + + + + 85443 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85443 + AL amyloidosis + + Disease + + + + + + 314701 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314701 + Primary systemic amyloidosis + + Clinical subtype + + + + + + + + 314709 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314709 + Primary localized amyloidosis + + Clinical subtype + + + + + + + + + + + + + + 217678 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217678 + Unclassified cardiomyopathy + + Category + + + + + + 692305 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692305 + Triglyceride deposit cardiomyovasculopathy + + Disease + + + + + + 692296 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692296 + Idiopathic triglyceride deposit cardiomyovasculopathy + + Etiological subtype + + + + + + + + 565612 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565612 + Primary triglyceride deposit cardiomyovasculopathy + + Etiological subtype + + + + + + + + + + 3403 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3403 + Uhl anomaly + + Morphological anomaly + + + + + + + + 54260 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54260 + Left ventricular noncompaction + + Disease + + + + + + + + 66529 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66529 + Tako-Tsubo cardiomyopathy + + Disease + + + + + + + + 478049 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478049 + Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome + + Disease + + + + + + + + + + 329874 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329874 + Idiopathic giant cell myocarditis + + Disease + + + + + + + + + + 168194 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168194 + Rare cardiac tumor + + Category + + + + + + 1359 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1359 + Carney complex + + Disease + + + + + + + + 615 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615 + Familial atrial myxoma + + Disease + + + + + + + + 874 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=874 + Primary adult heart tumor + + Disease + + + + + + + + 875 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=875 + Primary pediatric heart tumor + + Disease + + + + + + + + 319340 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319340 + Carney complex-trismus-pseudocamptodactyly syndrome + + Disease + + + + + + + + 685004 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685004 + Primary pericardial mesothelioma + + Disease + + + + + + + + + + 218436 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=218436 + Rare cardiac rhythm disease + + Category + + + + + + 101934 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101934 + Genetic cardiac rhythm disease + + Category + + + + + + 768 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=768 + Congenital long QT syndrome + + Clinical group + + + + + + 65283 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65283 + Timothy syndrome + + Malformation syndrome + + + + + + 595098 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595098 + Timothy syndrome type 1 + + Clinical subtype + + + + + + + + 595105 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595105 + Timothy syndrome type 2 + + Clinical subtype + + + + + + + + 595109 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595109 + Atypical Timothy syndrome + + Clinical subtype + + + + + + + + + + 90647 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90647 + Jervell and Lange-Nielsen syndrome + + Disease + + + + + + + + 101016 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101016 + Romano-Ward syndrome + + Disease + + + + + + + + + + 871 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=871 + Hereditary progressive cardiac conduction defect + + Disease + + + + + + + + 1344 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1344 + Isolated atrial standstill + + Disease + + + + + + + + 392 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392 + Holt-Oram syndrome + + Malformation syndrome + + + + + + + + 1342 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1342 + Heart-hand syndrome type 3 + + Malformation syndrome + + + + + + + + 1350 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1350 + Heart-hand syndrome type 2 + + Malformation syndrome + + + + + + + + 2946 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2946 + Brachydactyly-long thumb syndrome + + Malformation syndrome + + + + + + + + 1479 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1479 + Atrial septal defect-atrioventricular conduction defects syndrome + + Malformation syndrome + + + + + + + + 3283 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3283 + His bundle tachycardia + + Disease + + + + + + + + 3286 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3286 + Catecholaminergic polymorphic ventricular tachycardia + + Disease + + + + + + + + 130 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=130 + Brugada syndrome + + Disease + + + + + + + + 334 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=334 + Hereditary atrial fibrillation + + Disease + + + + + + + + 37553 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37553 + Andersen-Tawil syndrome + + Disease + + + + + + + + 51083 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51083 + Congenital short QT syndrome + + Disease + + + + + + + + 51084 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51084 + Torsade-de-pointes syndrome with short coupling interval + + Disease + + + + + + + + 60041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60041 + Congenital heart block + + Disease + + + + + + + + 137675 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137675 + Histiocytoid cardiomyopathy + + Disease + + + + + + + + 166282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166282 + Hereditary sick sinus syndrome + + Disease + + + + + + + + 168796 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168796 + Heart-hand syndrome, Slovenian type + + Malformation syndrome + + + + + + + + 228012 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228012 + Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome + + Disease + + + + + + + + 228140 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228140 + Idiopathic ventricular fibrillation + + Disease + + + + + + + + 324321 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324321 + Sinoatrial node dysfunction and deafness + + Disease + + + + + + + + 324410 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324410 + X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome + + Disease + + + + + + + + 435988 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435988 + Chronic atrial and intestinal dysrhythmia syndrome + + Disease + + + + + + + + 436242 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436242 + Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease + + Disease + + + + + + + + 480864 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480864 + Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome + + Disease + + + + + + + + 542306 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542306 + GNB5-related intellectual disability-cardiac arrhythmia syndrome + + Disease + + + + + + + + 476084 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476084 + BVES-related limb-girdle muscular dystrophy + + Disease + + + + + + + + + + 218439 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=218439 + Non-genetic cardiac rhythm disease + + Category + + + + + + 3282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3282 + Multifocal atrial tachycardia + + Disease + + + + + + + + 45452 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45452 + Idiopathic neonatal atrial flutter + + Disease + + + + + + + + 45453 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45453 + Incessant infant ventricular tachycardia + + Disease + + + + + + + + + + + + 363618 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363618 + LMNA-related cardiocutaneous progeria syndrome + + Disease + + + + + + + + 97292 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97292 + Cardiogenic shock + + Particular clinical situation in a disease or syndrome + + + + + + + + 458718 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458718 + Idiopathic spontaneous coronary artery dissection + + Disease + + + + + + + + 263352 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263352 + Postcardiotomy right ventricular failure + + Particular clinical situation in a disease or syndrome + + + + + + + + + + +