Gene Summary

Name:
erb-b2 receptor tyrosine kinase 2
Synonyms:
Neu,  Neu oncogene,  c-erbB2,  HER-2,  ErbB-2,  HER2,  c-neu,  l11Jus8

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean corpuscular hemoglobin Erbb2tm1b(EUCOMM)Hmgu HET   Early adult 3.21×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Erbb2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Erbb2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Glioma Susceptibility 1
Astrocytoma, Glioblastoma multiforme, Ependymoma OMIM:137800
Hirschsprung Disease
Aganglionic megacolon ORPHA:388
Ovarian Cancer
OMIM:167000
Lung Cancer
OMIM:211980
Gastric Cancer
OMIM:613659

The table below shows human diseases predicted to be associated to Erbb2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Perimembranous ventricular septal... OMIM:618782
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Lower limb muscle weakness, Abnormal lower motor neuron morphology, Hand mu... OMIM:607641
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Abnormal motor neuron morp... DECIPHER:29
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in childhood, Central apnea, Respiratory insufficiency OMIM:611722
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Worster-Drought Syndrome
Abnormal cranial nerve morphology ORPHA:3465
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left posterior fascicular block, Sudden cardiac de... OMIM:113900
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Cholesterol Pneumonia
Cough, Death in infancy, Pneumonia, Tachypnea, Cyanosis OMIM:215030
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Glossopharyngeal Neuralgia
Cranial nerve compression, Abnormal glossopharyngeal nerve morphology, Jaw claudication, Schwanno... ORPHA:221098
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Benign Schwannoma
Abnormal cranial nerve morphology, Abnormality of peripheral nervous system electrophysiology, Sc... ORPHA:252164
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Left bundle branch bloc... OMIM:115197
Long Qt Syndrome 10
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... OMIM:611819
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Anomalous pulmonary venous return, Cardiac conductio... ORPHA:99105
Myopathy, Myofibrillar, 1
EMG: myopathic abnormalities, Restrictive cardiomyopathy, Facial palsy, Third degree atrioventric... OMIM:601419
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Glioma Susceptibility 1
Astrocytoma, Glioblastoma multiforme, Ependymoma OMIM:137800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602087
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Type 1 muscle fiber atrophy, Achilles tendon contracture, Sudden cardiac death, Atrial arrhythmia... OMIM:310300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy OMIM:107970
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602086
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy OMIM:183020
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Peripheral hypomyel... OMIM:605253
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Glaucoma-Sleep Apnea Syndrome
Sleep apnea, Respiratory insufficiency ORPHA:2085
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Congestive heart failure, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Dyspnea, Cough, Respiratory failure requiring assisted ... ORPHA:90117
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Desminopathy
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... ORPHA:98909
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Amyotrophic Lateral Sclerosis 4, Juvenile
Diffuse axonal swelling, Abnormal lower motor neuron morphology, Degeneration of anterior horn ce... OMIM:602433
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... OMIM:610476
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Abnormal cardiac septum morphology, Arrhythmia, Bundle branch block ORPHA:1479
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials ORPHA:353253
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Left atrial enl... OMIM:608751
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Brugada Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged PR interval, First degree atrioventricu... OMIM:611777
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... ORPHA:99106
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Wrist drop, Intrinsic hand muscle atrophy, Leg muscle stiffness, Abnormal left ventricular functi... ORPHA:98912
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... ORPHA:45453
Muscular Dystrophy, Becker Type
Arrhythmia, Muscular dystrophy, Cardiomyopathy, Calf muscle pseudohypertrophy, Abnormal EKG OMIM:300376
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Scapular winging, Restricted neck movement due to contractures, Peroneal muscle atrophy, Arrhythm... OMIM:181350
Nemaline Myopathy 8
Respiratory failure, Facial palsy, Death in infancy OMIM:615348
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Single ventricle, Supraventricular... ORPHA:216694
Complete Atrioventricular Septal Defect
Right ventricular failure, Elevated pulmonary artery pressure, Complete atrioventricular canal de... ORPHA:1329
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory distress, Respiratory insufficiency, Facial palsy, Re... OMIM:614399
Myopathy, X-Linked, With Postural Muscle Atrophy
Arrhythmia, Scapular winging, Flexion contracture, Rimmed vacuoles, Hypertrophic cardiomyopathy OMIM:300696
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Myasthenic Syndrome, Congenital, 8
Facial palsy, Respiratory insufficiency OMIM:615120
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Scapuloperoneal Myopathy, X-Linked Dominant
Scapular winging, Scapuloperoneal myopathy, Arrhythmia, Flexion contracture, Lower limb muscle we... OMIM:300695
Nathalie Syndrome
Arrhythmia ORPHA:2663
Arnold-Chiari Malformation Type I
Cranial nerve compression, Abnormality of the twelfth cranial nerve, Abnormality of the vestibulo... ORPHA:268882
Sick Sinus Syndrome 2
Aortic regurgitation, Atrial fibrillation, Sick sinus syndrome, Ventricular fibrillation, Left ve... OMIM:163800
Cardiomyopathy, Familial Hypertrophic, 28
Asymmetric septal hypertrophy, Reduced ejection fraction, Atrial fibrillation, Concentric hypertr... OMIM:619402
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia, Peripheral demyelination, Hand muscle atrophy, Skeletal muscle atrophy, Decreased ner... ORPHA:99944
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal upper motor neuron morphology, Limb muscle weakness, Abnormal lower motor neuron morphol... OMIM:614373
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Abnormal cranial nerve morphology, Abnormal mitochondria in muscle tissue OMIM:258470
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Supraventricular arr... ORPHA:98855
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... ORPHA:99103
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... OMIM:252011
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Paroxysmal at... ORPHA:392
Leber Hereditary Optic Neuropathy
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia, Myopathy, Optic atrophy ORPHA:104
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Atrioventricular bl... OMIM:616812
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Supraventricular arr... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Supraventricular arr... ORPHA:98853
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Pericardial effusion, Atrial flutter, Atrial fibrillation, Congestive hea... OMIM:115200
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Muscular Dystrophy, Progressive Pectorodorsal
Shoulder girdle muscle weakness, Muscular dystrophy, Scapular winging, Arrhythmia OMIM:310095
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Pericardial effusion, Abn... ORPHA:300751
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... OMIM:613873
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Midsystolic murmur, Atrioventricular canal defect, Hypertension,... OMIM:600309
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Respiratory insufficiency due to muscle weakness, Paucity... OMIM:611890
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency OMIM:253300
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Arrhythmia, Cardiomyopathy, Proximal amyotrophy OMIM:612999
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory failure, Degeneration of anterior horn cells, Respiratory insufficiency OMIM:600333
Long-Thumb Brachydactyly Syndrome
Arrhythmia OMIM:112430
Bilateral Polymicrogyria
Arthrogryposis multiplex congenita, Abnormal glossopharyngeal nerve morphology, Facial diplegia, ... ORPHA:268940
Ventricular Arrythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Sudden cardiac death, Ventricular fibrillati... OMIM:115000
Salih Myopathy
Arrhythmia, Centrally nucleated skeletal muscle fibers, Flexion contracture, Facial palsy, Dilate... OMIM:611705
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Supraventricular arr... ORPHA:98863
Muscular Dystrophy, Congenital, 1B
Facial palsy, Respiratory failure OMIM:604801
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Tick-Borne Encephalitis
Abnormal cranial nerve morphology, Myelitis, Abnormal autonomic nervous system physiology, Abnorm... ORPHA:297
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Optic atrophy, Respiratory failure OMIM:619057
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Respiratory insufficiency ORPHA:640
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cough, Respiratory failure, Tachypnea, Cyanosis OMIM:263000
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
EMG: myopathic abnormalities, Palpitations, Ventricular hypertrophy, Decreased muscle mass, Arrhy... ORPHA:263297
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Cardiogenic ... ORPHA:75565
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Third degree atrioventricular block, Skeletal muscle atrophy ORPHA:480
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Reduced maximal inspiratory pressure, Respiratory insuffi... ORPHA:266
Heart Block, Congenital
Myocardial fibrosis, Absent atrioventricular node, Myocardial calcification, Atrial arrhythmia, A... OMIM:234700
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Atrial Fibrillation, Familial, 4
Palpitations, Premature atrial contractions, Paroxysmal atrial fibrillation, Atrial fibrillation,... OMIM:611493
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor ORPHA:137935
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Peroneal muscle atrophy, Congenital foot contraction deformities, Flexion contracture, Peroneal m... OMIM:118230
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... OMIM:108900
Charcot-Marie-Tooth Disease Type 4C
Tibialis atrophy, Scapular winging, Decreased muscle mass, Abnormal motor nerve conduction veloci... ORPHA:99949
Danon Disease
EMG: myopathic abnormalities, Myocardial fibrosis, Arrhythmia, Wolff-Parkinson-White syndrome, Ge... OMIM:300257
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis, Abnormal autonomic nervous system physiology, Orthostatic hypotension, Decreased nerve ... OMIM:252320
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Leg muscle stiffness, Supraventricular arrhythmia, Distal lower limb muscle weakness, Peripheral ... ORPHA:320360
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
X-Linked Centronuclear Myopathy
Atrioventricular block, Skeletal muscle atrophy ORPHA:596
Combined Oxidative Phosphorylation Deficiency 10
Arrhythmia, Optic atrophy, Hypertrophic cardiomyopathy OMIM:614702
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Abnormal heart valve morphology, Hypertension, Pulmonary embolism, Congestive heart f... ORPHA:1345
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Amyotrophic lateral sclerosis, Cranial nerve compression, Sensory a... ORPHA:52430
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Ventricular extrasystoles, Rhabdomyolysis, Ventricular tach... OMIM:212138
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Neonatal Lupus Erythematosus
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Abnormal heart morphology, Atri... ORPHA:398124
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope ORPHA:871
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency OMIM:616081
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Cardiomegaly, Tricuspid regurgitation OMIM:618052
Atrial Fibrillation, Familial, 10
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit... OMIM:614022
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Left ventricular systolic dysfunction, Tricuspid regurgitation, Hepatomegal... OMIM:619167
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnorm... OMIM:601596
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Optic atrophy, Death in infancy, Respiratory insufficiency OMIM:614299
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... OMIM:604772
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Anomalous pulmonary venous return, Arrhythmia, Bundle branch block, Right ventricul... ORPHA:99104
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Congestive heart failure, Cardiomegaly, Atrial flutter OMIM:300886
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Cardiomyopathy, Familial Hypertrophic, 13
ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Biventricular hypertroph... OMIM:613243
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Proximal amyotrophy, Muscular dystrophy, Atrial fibrillation, Bradycardia OMIM:614302
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Wild Type Abeta2M Amyloidosis
Macroglossia, Decreased amplitude of sensory action potentials, Arrhythmia, Gastrointestinal hemo... ORPHA:85446
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Spinal muscular atrophy, Abnormal lower motor neuron morphology, Scapuloperoneal amyotrophy, Dist... OMIM:611067
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Death in infancy, Neonatal respiratory distress, Neonatal death, Respiratory fail... OMIM:265120
Congenital Left Ventricular Aneurysm
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment, Abnormal left ventric... ORPHA:1055
Polyglucosan Body Neuropathy, Adult Form
Neurogenic bladder, Peripheral axonal neuropathy, Abnormal upper motor neuron morphology, Orthost... OMIM:263570
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Abnormal left ventricular function, Atrial fibrillation, Tricuspid r... ORPHA:75249
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Ventricular extrasystoles, Right ventricular cardiomyopathy OMIM:604401
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613690
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:605711
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Pericardial ef... ORPHA:26793
Asbestos Intoxication
Restrictive ventilatory defect, Wheezing, Reduced forced vital capacity, Dyspnea, Late inspirator... ORPHA:2302
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory failure, Respiratory insufficiency OMIM:610127
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:616198
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Arrhythmia OMIM:618453
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle atrophy, Orthostatic hypotension, Peroneal muscle weakness, Atrioventricular bloc... OMIM:118301
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... ORPHA:45452
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Ventricular arrhythmia, Palpitations, Syncope, Sudden cardiac death, Right ventricular cardiomyop... OMIM:609040
Laryngotracheoesophageal Cleft
Dyspnea, Cough, Neonatal respiratory distress, Cyanosis, Stridor, Aspiration ORPHA:2004
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:228940
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Limb hypertonia, Cardiomegaly, Optic disc pallor OMIM:619170
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
EMG: myopathic abnormalities, Hand muscle weakness, Increased endomysial connective tissue, Abnor... ORPHA:437572
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Cryptogenic Organizing Pneumonia
Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distress, Cough, Nonproductive cou... ORPHA:1302
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Scapular winging, Right bundle branch block, Muscular edema, Lower lim... ORPHA:268
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Amyotrophic Lateral Sclerosis 5, Juvenile
Distal amyotrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Arrhythmia, Decreased nerve conduction velocity ORPHA:2928
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 3
Aganglionic megacolon OMIM:613711
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Vacterl Association With Hydrocephalus
Stillbirth, Aqueductal stenosis, Respiratory insufficiency, Respiratory failure, Hydrocephalus OMIM:276950
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... OMIM:615441
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Tricuspid regurgitation, Congestive heart failure, Bicuspid aortic valve,... OMIM:613426
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:205100
Ebstein Malformation Of The Tricuspid Valve
Arrhythmia, Atrial septal defect, Abnormal endocardium morphology, Imperforate tricuspid valve, A... ORPHA:1880
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Orthopnea, Facial palsy, Respiratory failure,... ORPHA:98913
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Abnormal lower motor neuron morphology, Resp... ORPHA:2590
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Optic atrophy, Respiratory failure, Central hypoventilation OMIM:618233
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Dyspnea, Respiratory distress ORPHA:1832
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Abnormal autonomic nervous system physiology, Sudden ... ORPHA:101016
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Congestive heart ... ORPHA:49827
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:220400
Idiopathic/Heritable Pulmonary Arterial Hypertension
Palpitations, Syncope, Abnormal cardiovascular system physiology, Tricuspid regurgitation, Hepato... ORPHA:422
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage, Epistaxis, Hypertens... ORPHA:369929
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Heinz body anemia, Elliptocytosis, Poikilocytosis OMIM:141700
Arthrogryposis Multiplex Congenita 6
Neonatal death, Respiratory failure, Death in infancy, Death in childhood OMIM:619334
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Atrial fibrillation, Sick sinus syndrome, Pulmonic stenosis, Bicuspid aortic valv... OMIM:616201
Progressive Multifocal Leukoencephalopathy
Abnormal oligodendroglia morphology, Abnormal astrocyte morphology ORPHA:217260
Long Qt Syndrome 1
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:192500
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Proximal amyotrophy, Left ventricular systolic dysfunction, Limb-girdle muscula... ORPHA:206559
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Death in infancy, Hypoxemia, Neo... OMIM:610921
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:606070
Long Qt Syndrome 3
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:603830
Long Qt Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613688
Long Qt Syndrome 6
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613693
Long Qt Syndrome 5
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613695
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Hypercapnia, Respiratory failure, Respiratory insufficiency OMIM:267480
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Mitochondrial Dna Depletion Syndrome 11
Arrhythmia, Proximal amyotrophy, Generalized amyotrophy, Facial palsy, Dilated cardiomyopathy OMIM:615084
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Pleural effusion, Nonproductive cough, Res... ORPHA:723
Thiamine-Responsive Megaloblastic Anemia Syndrome
Arrhythmia, Situs inversus totalis, Atrial septal defect, Ventricular septal defect, Optic atroph... OMIM:249270
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Cough, Respiratory insufficiency, Abnormal pattern of respiration... ORPHA:724
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Joint contracture of the 5th finger, Atrioventricular block, Bradycardia OMIM:614407
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory failure, Nasal flaring, Tachypnea, Hypoxemia, Cyanosis ORPHA:70587
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Reduced forced vital capacity, Respiratory distress, Bronchiectasis, In... OMIM:610913
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Ragged-red muscle fibers, Wolff-Parkinson-White syndrome, Abnormal left ventricular f... OMIM:540000
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Ventilator dependence with inability to wean, Respiratory insufficiency, Re... ORPHA:254875
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemia of inadequate prod... OMIM:300751
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Propionic Acidemia
Hepatomegaly, Arrhythmia, Cardiomyopathy ORPHA:35
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Congenital Muscular Dystrophy With Intellectual Disability
Facial palsy, Respiratory failure, Respiratory insufficiency ORPHA:370968
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Anomalous pulmonary venous return, Pericardial effus... ORPHA:555874
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Prolonged QTc interval, Syncope, Cardiogenic shock, Decreased QRS voltage... ORPHA:66529
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:616437
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Hypertension, Atrioventricular block, Double out... ORPHA:371428
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
3-Methylglutaconic Aciduria, Type Viii
Apnea, Respiratory failure, Death in infancy OMIM:617248
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Communicating hydrocephalus, Respiratory insufficiency OMIM:273730
Familial Atrial Myxoma
Cardiac myxoma, Tricuspid regurgitation, Pulmonic valve myxoma, Congestive heart failure, Heart m... ORPHA:615
Intermediate Nemaline Myopathy
Facial palsy, Respiratory failure, Facial diplegia ORPHA:171433
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy OMIM:617222
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Pulmonary embolism, Abnormal cranial nerve morphology, Arrhythmia ORPHA:624
Multiple Mitochondrial Dysfunctions Syndrome 3
Optic atrophy, Respiratory failure, Respiratory insufficiency OMIM:615330
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, Patent foramen... ORPHA:542306
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Autonomic bladder dysfunction, ... ORPHA:330001
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR inte... OMIM:261740
Naxos Disease
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... ORPHA:34217
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Ventilator dependence with inability to wean, Inspiratory stridor, Degeneration of anterior horn ... OMIM:604320
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog... OMIM:105210
Chiari Malformation Type Ii
Spina bifida, Inspiratory stridor, Cervical myelopathy, Syringomyelia, Cyanosis, Myelomeningocele... OMIM:207950
Pulmonary Alveolar Proteinosis, Acquired
Restrictive ventilatory defect, Dyspnea, Cough, Pneumonia, Decreased DLCO, Hypoxemia, Cyanosis OMIM:610910
Pyropoikilocytosis, Hereditary
Microspherocytosis, Hemolytic anemia, Elliptocytosis, Pyropoikilocytosis OMIM:266140
Hemochromatosis, Type 2A
Arrhythmia, Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiom... OMIM:602390
Infantile Refsum Disease
Arrhythmia, Hepatomegaly, Facial palsy, Optic atrophy, Cardiomyopathy ORPHA:772
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Myelitis ORPHA:71211
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:612347
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Myotonic Dystrophy 1
Atrial flutter, Facial diplegia, Atrial fibrillation, First degree atrioventricular block OMIM:160900
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Respiratory insufficiency, Neonatal respiratory distress, Neonatal death, Death... OMIM:245400
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Conotruncal defect, Bradycardia, Atrioventricular canal defect ORPHA:40366
Dystonia 23
Torticollis, Arrhythmia OMIM:614860
Histiocytoid Cardiomyopathy
Ventricular septal defect, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, V... ORPHA:137675
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval OMIM:612240
Pelizaeus-Merzbacher Disease
Reduction of oligodendroglia OMIM:312080
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... OMIM:600996
Partial Atrioventricular Septal Defect
Palpitations, Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Angina pect... ORPHA:1330
Adams-Oliver Syndrome 5
Patent foramen ovale, Umbilical hernia, Pulmonic stenosis, Right atrial enlargement, Right ventri... OMIM:616028
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Ebstein Anomaly
Atrial septal defect, Atrial standstill, Ventricular preexcitation, Atrial fibrillation, Sudden c... OMIM:224700
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Respiratory failure, Respiratory insufficiency OMIM:618329
Leigh Syndrome
Optic atrophy, Respiratory failure, Respiratory insufficiency, Abnormal pattern of respiration OMIM:256000
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Skeletal muscle atrophy ORPHA:247604
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Arrhythmia, Third degree atrioventricular block, Cardiomyopathy OMIM:530000
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Facial palsy, ... OMIM:310400
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Pulmonary arterial ... ORPHA:2414
Breath-Holding Spells
Cyanosis OMIM:607578
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Elbow flexion contracture, Arrhythmia OMIM:616516
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Lyme Disease
Atrioventricular block, Arrhythmia ORPHA:91546
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Amyotrophic Lateral Sclerosis
Dyspnea, Abnormal respiratory system physiology, Amyotrophic lateral sclerosis, Respiratory failu... ORPHA:803
Leber Optic Atrophy
Myopathy, Arrhythmia, Optic neuropathy, Optic atrophy OMIM:535000
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Respiratory failure, Neonatal respiratory distress ORPHA:168486
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinusitis, Pneumonia, Respiratory insuff... OMIM:618695
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Myopathy, Cardiomyopathy OMIM:617713
Long Qt Syndrome 12
Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope OMIM:612955
Acute Interstitial Pneumonia
Dyspnea, Bronchiectasis, Pleural effusion, Nonproductive cough, Crackles, Hypoxemia, Decreased DL... ORPHA:79126
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Abnormal muscle fiber morphology, Arthrogryposis multiple... ORPHA:1145
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Ventricular tachycardia OMIM:600649
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Hyperekplexia 4
Respiratory failure OMIM:618011
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Hereditary Motor And Sensory Neuropathy, Type Iic
Intercostal muscle weakness, Respiratory failure, Stridor, Obstructive sleep apnea, Decreased dis... OMIM:606071
Hemochromatosis, Type 4
Arrhythmia, Cardiomyopathy OMIM:606069
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
Timothy Syndrome
Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Patent foramen ovale, Tetralogy o... OMIM:601005
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy ORPHA:225
Fabry Disease
Conjunctival telangiectasia, Arrhythmia, Bundle branch block, Abnormal myocardium morphology, Ang... ORPHA:324
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Staphylococcal Necrotizing Pneumonia
Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Acute infectious pne... ORPHA:36238
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Arrhythmia, Abnormal autonomic nervous system physiology, Cardiac arrest ORPHA:168593
Refsum Disease, Classic
Arrhythmia, Congestive heart failure, Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:266500
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Congestive heart failure, Cardiomegaly, Optic atrophy, Limb muscle weakness, Cardiomyopathy OMIM:619259
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Skeletal muscle atrophy, Limb muscle weakness, Weakness of ... ORPHA:329336
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Hypoxemia, Neonatal respiratory dis... ORPHA:2257
Barth Syndrome
Arrhythmia, Endocardial fibroelastosis, Skeletal myopathy, Congestive heart failure, Dilated card... OMIM:302060
Igg4-Related Ophthalmic Disease
Abnormality of infra-orbital nerve, Abnormality of the extraocular muscles, Abnormal fifth crania... ORPHA:449563
Carnitine Deficiency, Systemic Primary
Reduced muscle carnitine level, Endocardial fibroelastosis, Hepatomegaly, Congestive heart failur... OMIM:212140
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Optic disc pallor OMIM:615838
Jervell And Lange-Nielsen Syndrome
Arrhythmia, Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope ORPHA:90647
Brugada Syndrome 6
Ventricular fibrillation, Cardiac arrest, ST segment elevation OMIM:613119
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Arrhythmia, Muscular dystrophy, Flexion contracture, Congestive heart failure, Calf... OMIM:310200
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Asthma, Pulmonary arterial hypertens... ORPHA:1164
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis, Optic atrophy OMIM:261680
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:105550
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Ventricular extrasystoles, Bacterial endocarditis, Heart block ORPHA:1964
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Right ventricular failure, Cardiac shunt, Increased pulmonary vascular resistance, ... ORPHA:70591
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Congenital Muscular Dystrophy Due To Lmna Mutation
Arrhythmia, Flexion contracture, Congestive heart failure, Skeletal muscle atrophy, Myopathy ORPHA:157973
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgitation, Left ventricular noncom... OMIM:616501
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Optic atrophy, Respiratory failure, Abnormality of somatosens... ORPHA:98755
American Trypanosomiasis
Arrhythmia, Aganglionic megacolon, Hepatomegaly, Congestive heart failure, Splenomegaly, Myocardi... ORPHA:3386
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Respiratory failure, Tachypnea, Hypoxemia ORPHA:178320
Fabry Disease
Arrhythmia, Angina pectoris, Abnormal autonomic nervous system physiology, Hypertension, Myocardi... OMIM:301500
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Hypertension, Ventricular septal defect OMIM:617021
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture OMIM:607225
Idiopathic Pulmonary Arterial Hypertension
Palpitations, Elevated pulmonary artery pressure, Increased pulmonary vascular resistance, Tricus... ORPHA:275766
Avian Influenza
Myelitis, Respiratory distress, Dyspnea, Pleural effusion, Cough, Nonproductive cough, Pneumonia,... ORPHA:454836
Craniometaphyseal Dysplasia
Abnormal cranial nerve morphology, Facial palsy ORPHA:1522
Amyloidosis, Primary Localized Cutaneous, 1
Abnormal cranial nerve morphology OMIM:105250
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Skeletal muscle hypertrophy, Muscular dystrophy, Right bundle branch block OMIM:613158
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis OMIM:613002
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia OMIM:192605
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Abnormal upper motor neuron morphology, Optic atrophy OMIM:607694
Hemochromatosis, Type 1
Arrhythmia, Hepatomegaly, Congestive heart failure, Cardiomegaly, Splenomegaly, Telangiectasia, C... OMIM:235200
Elliptocytosis 3
Chronic hemolytic anemia, Elliptocytosis, Decreased mean corpuscular volume, Pyropoikilocytosis OMIM:617948
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord,... ORPHA:35689
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Polymyositis
Abnormal muscle fiber morphology, Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Abnormal... ORPHA:732
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Axonal loss, Peripheral demyelination OMIM:221770
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Mitral regurgitation, Abnormal atrioventricular valve morphology, Tricuspid regur... ORPHA:324410
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Dyspnea, Cough, Crackles, Decreased DLCO, Hypoxemia, Cyanosis ORPHA:747
Choanal Atresia
Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Upper airway obstruction, C... ORPHA:137914
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pneumonia, Respiratory failure, Abnormal blood gas level, Hypoxemia ORPHA:70578
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Myelopathy, Respiratory failure, Death in infancy OMIM:617186
Hsd10 Disease, Infantile Type
Optic atrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Ventricular fibrillation, Ventricular extrasystoles OMIM:612956
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Abnormal left ventricular function, Lower limb hypertonia, Skeletal... ORPHA:3208
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Congenital Aortic Valve Stenosis
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Angina pe... ORPHA:3093
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Elevated red cell adenosine deaminase level, Anisopoikilocytosis, Hemolytic anemia, Stomatocytosis OMIM:102730
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Hypertension, Perimembr... ORPHA:1457
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Respiratory failure, Optic atrophy, Hydrocephalus, Optic disc pallor OMIM:259720
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous pulmonary venous return, Tricuspid atresia, Truncus ... ORPHA:185
Beta-Thalassemia
Microcytic anemia, Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:848
Frontotemporal Dementia With Motor Neuron Disease
Abnormal upper motor neuron morphology, Generalized amyotrophy, Abnormal lower motor neuron morph... ORPHA:275872
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Arrhythmia, Aganglionic megacolon, Prolonged QT interval ORPHA:2151
Buerger Disease
Acrocyanosis ORPHA:36258
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
Polyvalvular Heart Disease Syndrome
Arrhythmia, Abnormal heart valve morphology, Tricuspid regurgitation, Pulmonic stenosis, Aortic v... ORPHA:228410
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Pericardial effusion, Right atrial enlargement, Endocardial fibroelas... OMIM:619313
Infantile Sialic Acid Storage Disease
Hepatomegaly, Congestive heart failure, Cardiomegaly, Splenomegaly OMIM:269920
Carnitine Palmitoyl Transferase 1A Deficiency
Arrhythmia, Sudden cardiac death, Hepatomegaly, Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:156
Recurrent Respiratory Papillomatosis
Wheezing, Dyspnea, Respiratory distress, Nonproductive cough, Respiratory insufficiency, Tracheom... ORPHA:60032
Mucopolysaccharidosis Type 3
Reduced ejection fraction, Macroglossia, Abnormal mitral valve morphology, Flexion contracture, A... ORPHA:581
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Arrhythmia, Elevated pu... OMIM:615344
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Congenital Myasthenic Syndrome
Respiratory arrest, Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Ap... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Ap... ORPHA:98914
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Sinus Node Disease And Myopia
Abnormal electrophysiology of sinoatrial node origin, Sick sinus syndrome OMIM:182190
Acquired Methemoglobinemia
Cyanosis, Dyspnea, Hypoxemia, Respiratory distress ORPHA:464453
Arnold-Chiari Malformation Type Ii
Neurogenic bladder, Apnea, Inspiratory stridor, Pneumonia, Aqueductal stenosis, Meningocele, Syri... ORPHA:1136
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency OMIM:601612
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly OMIM:619064
Snakebite Envenomation
Epistaxis, Respiratory paralysis, Erythema, Respiratory failure, Angioedema, Ecchymosis ORPHA:449285
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Communicating hydrocephalus ORPHA:1861
Liddle Syndrome
Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation OMIM:603689
Al Amyloidosis
Macroglossia, Arrhythmia, Monoclonal light chain cardiac amyloidosis, Gastrointestinal hemorrhage... ORPHA:85443
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Spasticity of facial muscles OMIM:606353
Spinal Muscular Atrophy With Congenital Bone Fractures 2