PhenoDis

Subgroups of rare cardiac diseases

Rare cardiac rhythm diseases
Dilated cardiomyopathies
Hypertrophic cardiomyopathies
Restrictive cardiomyopathies
Arrhythmogenic right ventricular dysplasias
Rare cardiac tumors
Rare metabolic diseases
Mitochondrial diseases
Rare neurologic diseases
Rare renal diseases

Frequently occurring symptoms

Congestive heart failure101
Dilated cardiomyopathy90
Arrhythmia74
Sudden cardiac death59
Syncope56
Cardiomyopathy49
Hypertrophic cardiomyopathy46
Dyspnea46
Muscle weakness45
Atrial fibrillation43
more...

About PhenoDis

PhenoDis is a manually curated database of rare cardiac diseases. The dataset consists of 308 diseases based on information from Orphanet and OMIM. The focus of our work is the assignment of clinical symptoms to rare diseases using the biomedical literature as information source and the Human Phenotype Ontology (HPO) as vocabulary.

Annotated Diseases

1p36 deletion syndrome
46,XY complete gonadal dysgenesis
AA amyloidosis
Acyl-CoA dehydrogenase 9 deficiency
Adult heart tumor
Adult polyglucosan body disease
AL amyloidosis
Alpha-mannosidosis
Alpha-mannosidosis, adult form
Alpha-mannosidosis, infantile form
Alström syndrome
Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic right ventricular dysplasia, familial, 10
Arrhythmogenic right ventricular dysplasia, familial, 11
Arrhythmogenic right ventricular dysplasia, familial, 12
Arrhythmogenic right ventricular dysplasia, familial, 13
Arrhythmogenic right ventricular dysplasia, familial, 2
Arrhythmogenic right ventricular dysplasia, familial, 3
Arrhythmogenic right ventricular dysplasia, familial, 4
Arrhythmogenic right ventricular dysplasia, familial, 5
Arrhythmogenic right ventricular dysplasia, familial, 6
Arrhythmogenic right ventricular dysplasia, familial, 8
Arrhythmogenic right ventricular dysplasia, familial, 9
Atrial fibrillation, familial, 10
Atrial fibrillation, familial, 11
Atrial fibrillation, familial, 12
Atrial fibrillation, familial, 17
Atrial fibrillation, familial, 3
Atrial fibrillation, familial, 7
Atrial fibrillation, familial, 9
Atrial septal defect - atrioventricular conduction defects syndrome
Atrial standstill
Atrial standstill 1
Atrial standstill 2
Atrial tachyarrhythmia with short PR interval
ATTRV122I amyloidosis
Atypical Gaucher disease due to saposin C deficiency
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2C
Autosomal recessive limb-girdle muscular dystrophy type 2D
Autosomal recessive limb-girdle muscular dystrophy type 2E
Autosomal recessive limb-girdle muscular dystrophy type 2F
Autosomal recessive limb-girdle muscular dystrophy type 2M
Barth syndrome
Becker muscular dystrophy
Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Beckwith-Wiedemann syndrome due to 11p15 microduplication
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Beckwith-Wiedemann syndrome due to NSD1 mutation
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Beta-mannosidosis
Brachydactyly-long thumb syndrome
Brugada syndrome
Cardiac arrhythmia, ankyrin-B-related
Cardiodysrhythmic potassium-sensitive periodic paralysis
Cardiofaciocutaneous syndrome
Cardiomyopathy
Cardiomyopathy, dilated, 1AA with or without left ventricular noncompaction
Cardiomyopathy, dilated, 1B
Cardiomyopathy, dilated, 1BB
Cardiomyopathy, dilated, 1C
Cardiomyopathy, dilated, 1CC
Cardiomyopathy, dilated, 1D
Cardiomyopathy, dilated, 1DD
Cardiomyopathy, dilated, 1E
Cardiomyopathy, dilated, 1EE
Cardiomyopathy, dilated, 1FF
Cardiomyopathy, dilated, 1G
Cardiomyopathy, dilated, 1GG
Cardiomyopathy, dilated, 1H
Cardiomyopathy, dilated, 1HH
Cardiomyopathy, dilated, 1I
Cardiomyopathy, dilated, 1II
Cardiomyopathy, dilated, 1JJ
Cardiomyopathy, dilated, 1K
Cardiomyopathy, dilated, 1KK
Cardiomyopathy, dilated, 1L
Cardiomyopathy, dilated, 1M
Cardiomyopathy, dilated, 1nn
Cardiomyopathy, dilated, 1O
Cardiomyopathy, dilated, 1P
Cardiomyopathy, dilated, 1Q
Cardiomyopathy, dilated, 1R
Cardiomyopathy, dilated, 1S
Cardiomyopathy, dilated, 1T
Cardiomyopathy, dilated, 1U
Cardiomyopathy, dilated, 1V
Cardiomyopathy, dilated, 1W
Cardiomyopathy, dilated, 1X
Cardiomyopathy, dilated, 1Y
Cardiomyopathy, dilated, 1Z
Cardiomyopathy, dilated, 2A
Cardiomyopathy, dilated, 2B
Cardiomyopathy, dilated, 3B
Cardiomyopathy, dilated, with woolly hair, keratoderma, and toothagenesis
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
Cardiomyopathy, familial hypertrophic, 9
Cardiomyopathy, familial restrictive 2
Cardiomyopathy, familial restrictive, 1
Cardiomyopathy, familial restrictive, 3
Cardiomyopathy, fatal fetal, due to myocardial calcification
Cardiomyopathy, hypertrophic, 25
Cardiomyopathy-cataract-hip spine disease
Cardiomyopathy-hypotonia-lactic acidosis syndrome
Cardiomyopathy-renal anomalies
Carney complex
Carney complex-trismus-pseudocamptodactyly syndrome
Carnitine uptake deficiency
Carnitine-acylcarnitine translocase deficiency
Catecholaminergic polymorphic ventricular tachycardia
Chronic atrial and intestinal dysrhythmia syndrome
Cirrhotic cardiomyopathy
Combined oxidative phosphorylation defect type 17
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Congenital disorder of glycosylation with dilated cardiomyopathy
Congenital heart block
Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
Costello syndrome
CREST syndrome
Desminopathy
Diabetic embryopathy
Diffuse cutaneous systemic sclerosis
Dilated cardiomyopathy
Dilated cardiomyopathy with ataxia
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
DK1-CDG
DPM3-CDG
Duchenne and Becker muscular dystrophy
Duchenne muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Emery-Dreifuss muscular dystrophy
Encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy,and cataracts
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Endomyocardial fibroelastosis
Eosinophilic granulomatosis with polyangiitis
Fabry disease
Familial atrial fibrillation
Familial atrial myxoma
Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease
Familial dilated cardiomyopathy
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated arrhythmogenic right ventricular dysplasia
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial isolated dilated cardiomyopathy
Familial isolated hypertrophic cardiomyopathy
Familial isolated restrictive cardiomyopathy
Familial long QT syndrome
Familial progressive cardiac conduction defect
Familial restrictive cardiomyopathy
Familial short QT syndrome
Familial sick sinus syndrome
Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
Fetal Gaucher disease
Friedreich ataxia
Friedreich ataxia 1
Friedreich ataxia 2
Fucosidosis
Gaucher disease
Gaucher disease - ophthalmoplegia - cardiovascular calcification
Gaucher disease type 1
Gaucher disease type 2
Gaucher disease type 3
Generalized congenital lipodystrophy with myopathy
Genetic cardiac rhythm disease
Glycogen storage disease due to acid maltase deficiency
Glycogen storage disease due to acid maltase deficiency, infantile onset
Glycogen storage disease due to glycogen branching enzyme deficiency
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
Glycogen storage disease due to glycogen debranching enzyme deficiency
Glycogen storage disease due to LAMP-2 deficiency
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Glycogen storage disease with hypertrophic cardiomyopathy
Heart tumor of the child
Heart-hand syndrome type 2
Heart-hand syndrome type 3
Heart-hand syndrome, Slovenian type
HEC syndrome
His bundle tachycardia
Histiocytoid cardiomyopathy
Holt-Oram syndrome
Hurler syndrome
Hurler-Scheie syndrome
Hypereosinophilic syndrome
Hypertaurinuric cardiomyopathy
Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
Hypertrophic cardiomyopathy due to intensive athletic training
Idiopathic giant cell myocarditis
Idiopathic hypereosinophilic syndrome
Idiopathic neonatal atrial flutter
Idiopathic ventricular fibrillation, not Brugada type
Incessant infant ventricular tachycardia
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Isobutyryl-CoA dehydrogenase deficiency
Jervell and Lange-Nielsen syndrome
Jervell and Lange-Nielsen syndrome 1
Kawasaki disease
Kearns-Sayre syndrome
Leber hereditary optic neuropathy
Leber plus disease
Left ventricular noncompaction
Left ventricular noncompaction 1
Left ventricular noncompaction 10
Left ventricular noncompaction 2
Left ventricular noncompaction 8
Left vetricular noncompaction 7
Limited cutaneous systemic sclerosis
Limited systemic sclerosis
LMNA-related cardiocutaneous progeria syndrome
Loeffler endocarditis
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long QT syndrome 1
Long QT syndrome 10
Long QT syndrome 11
Long QT syndrome 12
Long QT syndrome 13
Long QT syndrome 14
Long QT syndrome 15
Long QT syndrome 2
Long QT syndrome 3
Long QT syndrome 5
Long QT syndrome 6
Long QT syndrome 9
Lymphoid hypereosinophilic syndrome
Lysosomal disease with hypertrophic cardiomyopathy
Lysosomal disease with restrictive cardiomyopathy
Maternally-inherited cardiomyopathy and hearing loss
McLeod neuroacanthocytosis syndrome
MELAS
MERRF
Microcephaly-cardiomyopathy syndrome
Mitochondrial disease with dilated cardiomyopathy
Mitochondrial disease with hypertrophic cardiomyopathy
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Mitochondrial trifunctional protein deficiency
Mucopolysaccharidosis type 2
Mucopolysaccharidosis type 2, attenuated form
Mucopolysaccharidosis type 2, severe form
Multifocal atrial tachycardia
Multiple acyl-CoA dehydrogenase deficiency
Naxos disease
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Neuromuscular disease with dilated cardiomyopathy
Non-familial dilated cardiomyopathy
Non-familial hypertrophic cardiomyopathy
Non-familial rare disease with dilated cardiomyopathy
Non-familial restrictive cardiomyopathy
Non-genetic cardiac rhythm disease
Noonan syndrome
Noonan syndrome and Noonan-related syndrome
Noonan syndrome with multiple lentigines
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with loose anagen hair
Papillary fibroelastoma of the heart
Pediatric systemic sclerosis
Peripartum cardiomyopathy
PGM1-CDG
Primary hypereosinophilic syndrome
Primary localized amyloidosis
Primary systemic amyloidosis
Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
Pseudoxanthoma elasticum
Rare cardiac rhythm disease
Rare cardiac tumor
Rare familial disorder with hypertrophic cardiomyopathy
Restrictive cardiomyopathy
Romano-Ward syndrome
Sarcoidosis
Secondary hypereosinophilic syndrome
Sensorineural deafness with dilated cardiomyopathy
Sick sinus syndrome 1, autosomal recessive
Sick sinus syndrome 2, autosomal dominant
Sick sinus syndrome 3
Sino-auricular heart block
Sinoatrial node dysfunction and deafness
Sinus node disease and myopia
Steinert myotonic dystrophy
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Syndrome associated with dilated cardiomyopathy
Syndrome associated with hypertrophic cardiomyopathy
Systemic sclerosis
Tako-Tsubo cardiomyopathy
Timothy syndrome
Tropical endomyocardial fibrosis
Tubular renal disease-cardiomyopathy syndrome
Uhl anomaly
Unclassified cardiomyopathy
Ventricular fibrillation, paroxysmal familial, 1
Ventricular fibrillation, paroxysmal familial, 2
Very long chain acyl-CoA dehydrogenase deficiency
Vici syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
X-linked Emery-Dreifuss muscular dystrophy
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome

General Statistic

Total Number of Diseases308
Total Number of Symptoms2247
Total Number of Disease-Symptom Relations7582