Knowledge on rare diseases and orphan drugs
COVID-19 & Rare diseases
Rare Diseases Resources for Refugees/Displaced Persons
Homepage > Rare diseases > Classifications
Search for a classification
Return to classification browser
- Rare cardiac disease ORPHA:97929
- Rare cardiomyopathy ORPHA:167848
- Inherited arrhythmogenic cardiomyopathy ORPHA:247
- Rare hypertrophic cardiomyopathy ORPHA:217569
- Rare familial disorder with hypertrophic cardiomyopathy ORPHA:99739
- Glycogen storage disease with hypertrophic cardiomyopathy ORPHA:217572
- Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease ORPHA:439854
- Glycogen storage disease due to acid maltase deficiency ORPHA:365
- Glycogen storage disease due to acid maltase deficiency, infantile onset ORPHA:308552
- Glycogen storage disease due to acid maltase deficiency, late-onset ORPHA:420429
- Glycogen storage disease due to glycogen debranching enzyme deficiency ORPHA:366
- Danon disease ORPHA:34587
- Glycogen storage disease due to muscle and heart glycogen synthase deficiency ORPHA:137625
- Lysosomal disease with hypertrophic cardiomyopathy ORPHA:217581
- Beta-mannosidosis ORPHA:118
- Fucosidosis ORPHA:349
- Glycogen storage disease due to acid maltase deficiency ORPHA:365
- Glycogen storage disease due to acid maltase deficiency, infantile onset ORPHA:308552
- Glycogen storage disease due to acid maltase deficiency, late-onset ORPHA:420429
- Fabry disease ORPHA:324
- Mucopolysaccharidosis type 2 ORPHA:580
- Mucopolysaccharidosis type 2, severe form ORPHA:217085
- Mucopolysaccharidosis type 2, attenuated form ORPHA:217093
- Hurler syndrome ORPHA:93473
- Hurler-Scheie syndrome ORPHA:93476
- Mitochondrial disease with hypertrophic cardiomyopathy ORPHA:217587
- MELAS ORPHA:550
- MERRF ORPHA:551
- Mitochondrial DNA-related cardiomyopathy and hearing loss ORPHA:1349
- Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome ORPHA:1369
- Leber plus disease ORPHA:99718
- Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ORPHA:314637
- Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome ORPHA:319678
- Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation ORPHA:324525
- Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency ORPHA:352563
- Combined oxidative phosphorylation defect type 17 ORPHA:369913
- Combined oxidative phosphorylation defect type 23 ORPHA:444013
- Ocular anomalies-axonal neuropathy-developmental delay syndrome ORPHA:496790
- Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ORPHA:457185
- QRSL1-related combined oxidative phosphorylation defect ORPHA:570491
- 1p36.33 duplication syndrome ORPHA:656279
- Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy ORPHA:217591
- Mitochondrial trifunctional protein deficiency ORPHA:746
- Carnitine-acylcarnitine translocase deficiency ORPHA:159
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ORPHA:5
- Multiple acyl-CoA dehydrogenase deficiency ORPHA:26791
- Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type ORPHA:394529
- Multiple acyl-CoA dehydrogenase deficiency, mild type ORPHA:394532
- Very long chain acyl-CoA dehydrogenase deficiency ORPHA:26793
- Acyl-CoA dehydrogenase 9 deficiency ORPHA:99901
- Syndrome associated with hypertrophic cardiomyopathy ORPHA:217595
- Friedreich ataxia ORPHA:95
- Steinert myotonic dystrophy ORPHA:273
- Childhood-onset Steinert myotonic dystrophy ORPHA:589824
- Juvenile-onset Steinert myotonic dystrophy ORPHA:589827
- Adult-onset Steinert myotonic dystrophy ORPHA:589830
- Late-onset Steinert myotonic dystrophy ORPHA:589833
- Congenital-onset Steinert myotonic dystrophy ORPHA:589821
- Beckwith-Wiedemann syndrome ORPHA:116
- Beckwith-Wiedemann syndrome due to 11p15 microduplication ORPHA:96076
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 ORPHA:96193
- Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 ORPHA:231117
- Beckwith-Wiedemann syndrome due to CDKN1C mutation ORPHA:231120
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion ORPHA:231127
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion ORPHA:231130
- Beckwith-Wiedemann syndrome due to NSD1 mutation ORPHA:238613
- Cardiomyopathy-hypotonia-lactic acidosis syndrome ORPHA:91130
- Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome ORPHA:228012
- Alpha-B crystallin-related late-onset myopathy ORPHA:399058
- Desminopathy ORPHA:98909
- Costello syndrome ORPHA:3071
- Noonan syndrome-like disorder with loose anagen hair ORPHA:2701
- Noonan syndrome ORPHA:648
- Noonan syndrome with multiple lentigines ORPHA:500
- Noonan syndrome-like disorder with juvenile myelomonocytic leukemia ORPHA:363972
- Cardiofaciocutaneous syndrome ORPHA:1340
- Non-familial hypertrophic cardiomyopathy ORPHA:217598
- Dilated cardiomyopathy ORPHA:217604
- Familial dilated cardiomyopathy ORPHA:217607
- HEC syndrome ORPHA:2119
- Glycogen storage disease due to glycogen branching enzyme deficiency ORPHA:367
- Adult polyglucosan body disease ORPHA:206583
- Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form ORPHA:308621
- Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form ORPHA:308638
- Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form ORPHA:308655
- Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form ORPHA:308670
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form ORPHA:308684
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form ORPHA:308698
- Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form ORPHA:308712
- Familial isolated dilated cardiomyopathy ORPHA:154
- Neuromuscular disease with dilated cardiomyopathy ORPHA:217610
- Duchenne and Becker muscular dystrophy ORPHA:262
- Becker muscular dystrophy ORPHA:98895
- Duchenne muscular dystrophy ORPHA:98896
- Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers ORPHA:206546
- Emery-Dreifuss muscular dystrophy ORPHA:261
- Autosomal dominant Emery-Dreifuss muscular dystrophy ORPHA:98853
- Autosomal recessive Emery-Dreifuss muscular dystrophy ORPHA:98855
- X-linked Emery-Dreifuss muscular dystrophy ORPHA:98863
- Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 ORPHA:62
- Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 ORPHA:119
- Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 ORPHA:353
- Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 ORPHA:219
- Desminopathy ORPHA:98909
- Fukutin-related limb-girdle muscular dystrophy R13 ORPHA:206554
- Early-onset myopathy with fatal cardiomyopathy ORPHA:289377
- Polyglucosan body myopathy type 1 ORPHA:397937
- Mitochondrial disease with dilated cardiomyopathy ORPHA:217613
- Kearns-Sayre syndrome ORPHA:480
- MELAS ORPHA:550
- MERRF ORPHA:551
- Barth syndrome ORPHA:111
- Leber plus disease ORPHA:99718
- Histiocytoid cardiomyopathy ORPHA:137675
- Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy ORPHA:217616
- Syndrome associated with dilated cardiomyopathy ORPHA:217619
- Alström syndrome ORPHA:64
- Cardiomyopathy-cataract-hip spine disease syndrome ORPHA:1345
- Vici syndrome ORPHA:1493
- 1p36 deletion syndrome ORPHA:1606
- Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome ORPHA:2229
- Microcephaly-cardiomyopathy syndrome ORPHA:2515
- McLeod neuroacanthocytosis syndrome ORPHA:59306
- Carvajal syndrome ORPHA:65282
- Dilated cardiomyopathy with ataxia ORPHA:66634
- Kidney tubulopathy-dilated cardiomyopathy syndrome ORPHA:73224
- Isobutyryl-CoA dehydrogenase deficiency ORPHA:79159
- Heart-hand syndrome, Slovenian type ORPHA:168796
- Sensorineural deafness with dilated cardiomyopathy ORPHA:217622
- Erythrokeratodermia-cardiomyopathy syndrome ORPHA:476096
- Nathalie syndrome ORPHA:2663
- Familial dilated cardiomyopathy with conduction defect due to LMNA mutation ORPHA:300751
- Congenital disorder of glycosylation with dilated cardiomyopathy ORPHA:371176
- DK1-CDG ORPHA:91131
- Fukutin-related limb-girdle muscular dystrophy R13 ORPHA:206554
- DPM3-CDG ORPHA:263494
- PGM1-CDG ORPHA:319646
- Danon disease ORPHA:34587
- Non-familial dilated cardiomyopathy ORPHA:217629
- Restrictive cardiomyopathy ORPHA:217632
- Familial restrictive cardiomyopathy ORPHA:217635
- HEC syndrome ORPHA:2119
- Atrial standstill ORPHA:1344
- Pseudoxanthoma elasticum ORPHA:758
- Familial isolated restrictive cardiomyopathy ORPHA:75249
- Hereditary ATTR amyloidosis ORPHA:271861
- Desminopathy ORPHA:98909
- Lysosomal disease with restrictive cardiomyopathy ORPHA:217638
- Glycogen storage disease due to acid maltase deficiency ORPHA:365
- Glycogen storage disease due to acid maltase deficiency, infantile onset ORPHA:308552
- Glycogen storage disease due to acid maltase deficiency, late-onset ORPHA:420429
- Fabry disease ORPHA:324
- Gaucher disease type 1 ORPHA:77259
- Hurler syndrome ORPHA:93473
- Non-familial restrictive cardiomyopathy ORPHA:217720
- Endocardial fibroelastosis ORPHA:2022
- HEC syndrome ORPHA:2119
- Sarcoidosis ORPHA:797
- Tropical endomyocardial fibrosis ORPHA:75565
- Loeffler endocarditis ORPHA:75566
- AA amyloidosis ORPHA:85445
- Systemic sclerosis ORPHA:90291
- Diffuse cutaneous systemic sclerosis ORPHA:220393
- Limited cutaneous systemic sclerosis ORPHA:220402
- Limited systemic sclerosis ORPHA:220407
- Hypereosinophilic syndrome ORPHA:168956
- Secondary hypereosinophilic syndrome ORPHA:314962
- Idiopathic hypereosinophilic syndrome ORPHA:3260
- Primary hypereosinophilic syndrome ORPHA:314950
- Infective endocarditis ORPHA:570762
- Wild type ATTR amyloidosis ORPHA:330001
- AL amyloidosis ORPHA:85443
- Unclassified cardiomyopathy ORPHA:217678
- Triglyceride deposit cardiomyovasculopathy ORPHA:692305
- Idiopathic triglyceride deposit cardiomyovasculopathy ORPHA:692296
- Primary triglyceride deposit cardiomyovasculopathy ORPHA:565612
- Uhl anomaly ORPHA:3403
- Left ventricular noncompaction ORPHA:54260
- Tako-Tsubo cardiomyopathy ORPHA:66529
- Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome ORPHA:478049
- Idiopathic giant cell myocarditis ORPHA:329874
- Rare cardiac tumor ORPHA:168194
- Rare cardiac rhythm disease ORPHA:218436
- Genetic cardiac rhythm disease ORPHA:101934
- Congenital long QT syndrome ORPHA:768
- Timothy syndrome ORPHA:65283
- Timothy syndrome type 1 ORPHA:595098
- Timothy syndrome type 2 ORPHA:595105
- Atypical Timothy syndrome ORPHA:595109
- Jervell and Lange-Nielsen syndrome ORPHA:90647
- Romano-Ward syndrome ORPHA:101016
- Lown-Ganong-Levine syndrome ORPHA:844
- Familial progressive cardiac conduction defect ORPHA:871
- Atrial standstill ORPHA:1344
- Holt-Oram syndrome ORPHA:392
- Heart-hand syndrome type 3 ORPHA:1342
- Heart-hand syndrome type 2 ORPHA:1350
- Brachydactyly-long thumb syndrome ORPHA:2946
- Atrial septal defect-atrioventricular conduction defects syndrome ORPHA:1479
- His bundle tachycardia ORPHA:3283
- Catecholaminergic polymorphic ventricular tachycardia ORPHA:3286
- Brugada syndrome ORPHA:130
- Familial atrial fibrillation ORPHA:334
- Andersen-Tawil syndrome ORPHA:37553
- Congenital short QT syndrome ORPHA:51083
- Torsade-de-pointes syndrome with short coupling interval ORPHA:51084
- Congenital heart block ORPHA:60041
- Histiocytoid cardiomyopathy ORPHA:137675
- Hereditary sick sinus syndrome ORPHA:166282
- Heart-hand syndrome, Slovenian type ORPHA:168796
- Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome ORPHA:228012
- Idiopathic ventricular fibrillation, non Brugada type ORPHA:228140
- Sinoatrial node dysfunction and deafness ORPHA:324321
- X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome ORPHA:324410
- Chronic atrial and intestinal dysrhythmia syndrome ORPHA:435988
- Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease ORPHA:436242
- Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome ORPHA:480864
- GNB5-related intellectual disability-cardiac arrhythmia syndrome ORPHA:542306
- BVES-related limb-girdle muscular dystrophy ORPHA:476084
- Non-genetic cardiac rhythm disease ORPHA:218439
- LMNA-related cardiocutaneous progeria syndrome ORPHA:363618
- Cardiogenic shock ORPHA:97292
- Postcardiotomy right ventricular failure ORPHA:263352