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Gene: Slc6a6 MGI:98488

Gene Summary

Name:

solute carrier family 6 (neurotransmitter transporter, taurine), member 6

Synonyms:

Taut

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
prolonged RR interval	Slc6a6^em1(IMPC)Mbp	HOM	Early adult	3.17×10^-08
abnormal lymph node morphology	Slc6a6^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased thigmotaxis	Slc6a6^em1(IMPC)Mbp	HOM	Early adult	4.66×10^-11
decreased fasting circulating glucose level	Slc6a6^em1(IMPC)Mbp	HOM	Early adult	4.47×10^-06
enlarged lymph nodes	Slc6a6^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased erythrocyte cell number	Slc6a6^em1(IMPC)Mbp	HOM	Early adult	6.21×10^-06
increased monocyte cell number	Slc6a6^em1(IMPC)Mbp	HOM	Early adult	7.96×10^-05
decreased heart rate	Slc6a6^em1(IMPC)Mbp	HOM	Early adult	6.12×10^-09
increased blood urea nitrogen level	Slc6a6^em1(IMPC)Mbp	HOM	Early adult	5.58×10^-06
increased circulating phosphate level	Slc6a6^em1(IMPC)Mbp	HOM	Early adult	6.03×10^-14
decreased hemoglobin content	Slc6a6^em1(IMPC)Mbp	HOM	Early adult	5.68×10^-05
abnormal retina morphology	Slc6a6^em1(IMPC)Mbp	HOM	Early adult	6.21×10^-05
impaired pupillary reflex	Slc6a6^em1(IMPC)Mbp	HOM	Early adult	3.55×10^-11
hyperactivity	Slc6a6^em1(IMPC)Mbp	HOM	Early adult	9.08×10^-05

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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

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Human diseases caused by Slc6a6 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.

Human diseases associated with Slc6a6 (1 diseases)
Human diseases predicted to be associated with Slc6a6 (1075 diseases)

The table below shows human diseases associated to Slc6a6 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hypotaurinemic Retinal Degeneration And Cardiomyopathy		Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350

The table below shows human diseases predicted to be associated to Slc6a6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Retinal Dysplasia, Primary	Falciform retinal fold, Retinal dysplasia	OMIM:312550
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula...	OMIM:302045
Cardiomyopathy, Dilated, 1R	Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh...	OMIM:613424
Cardiomyopathy, Dilated, 1X	Reduced left ventricular ejection fraction, Calf muscle hypertrophy, Increased variability in mus...	OMIM:611615
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Congestive heart failure, Ankle flexion contracture, Calf muscle hypertrophy, Cardiomyopathy, Sca...	OMIM:608099
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Muscular dystrophy, Calf muscle pseudohypertrophy, Scapular winging, Limb-girdle muscle weakness,...	OMIM:604286
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,...	OMIM:601493
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ...	OMIM:613642
Cardiomyopathy, Dilated, 1M	Congestive heart failure, Reduced left ventricular ejection fraction, Impaired myocardial contrac...	OMIM:607482
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Retinal dystrophy, Drusen, Reticular pigmentary degeneration	OMIM:267800
Left Ventricular Noncompaction 10	Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en...	OMIM:615396
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Limb-girdle muscle weakness, Peroneal muscle atrophy, Limb-girdle muscular dystrophy, Elbow flexi...	OMIM:181350
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Distal lower limb muscle weakness, Thenar muscle atrophy, Fiber type grouping, Interosseus muscle...	OMIM:619903
Left Ventricular Noncompaction 8	Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat...	OMIM:615373
Myopathy, Distal, 1	Left atrial enlargement, Distal lower limb muscle weakness, Ragged-red muscle fibers, Tibialis an...	OMIM:160500
Cardiomyopathy, Dilated, 2A	Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, Increased left ventricula...	OMIM:611880
Gne Myopathy	Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Cardi...	ORPHA:602
Cardiomyopathy, Dilated, 1W	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular...	OMIM:613122
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Cardiomyopathy, Dilated, 1L	Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ...	OMIM:606685
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Congestive heart failure, Calf muscle hypertrophy, Elbow flexion contracture, Abnormality of the ...	ORPHA:206546
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Frontalis muscle weakness, Facial palsy, Decreased body weight, Type 1 fibers relatively smaller ...	OMIM:300580
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro...	OMIM:612158
Congenital Myopathy 5 With Cardiomyopathy	Congestive heart failure, Severely reduced left ventricular ejection fraction, Calf muscle hypert...	OMIM:611705
Cardiomyopathy, Dilated, 1J	Congestive heart failure, Sudden death, Dilated cardiomyopathy, Abnormal left ventricular functio...	OMIM:605362
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Muscular dystrophy, Reduced muscle fiber merosin, Calf muscle hypertrophy, Reduced muscle fiber a...	ORPHA:34515
Dpm3-Cdg	Muscular dystrophy, Chest pain, Calf muscle hypertrophy, Rimmed vacuoles, Dilated cardiomyopathy,...	ORPHA:263494
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Left ventricular systolic dysfunction, Calf muscle hypertrophy, Right bundle branch block, Scapul...	ORPHA:206559
Cardiomyopathy, Dilated, 1U	Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at...	OMIM:613694
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Limb-gir...	OMIM:612937
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume...	OMIM:613286
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Hip flexor weakness, Distal lower limb muscle weakness, Exercise-induced myalgia, Cardiomyopathy,...	ORPHA:63273
Cardiomyopathy, Dilated, 1Dd	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death, Left ventricular systolic...	OMIM:613172
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Rimmed vacuoles, Increased variability in muscle fiber diameter, Flexion contracture, Dilated car...	OMIM:300718
Cardiomyopathy, Dilated, 1I	Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ...	OMIM:604765
Cardiomyopathy, Dilated, 1Ee	Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume...	OMIM:613252
Familial Isolated Dilated Cardiomyopathy	Congestive heart failure, Left ventricular systolic dysfunction, Fatigue, Arrhythmia, Dilated car...	ORPHA:154
Cardiomyopathy, Dilated, 1Jj	Dilated cardiomyopathy, Reduced left ventricular ejection fraction	OMIM:615235
Myopathy, Myofibrillar, 3	Muscle fiber splitting, Distal amyotrophy, Cardiomyopathy, Muscle fiber cytoplasmatic inclusion b...	OMIM:609200
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Muscular dystrophy, Calf muscle hypertrophy, Reduced systolic function, Skeletal muscle atrophy, ...	OMIM:616827
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Rimmed vacuoles, Card...	OMIM:301075
Adult-Onset Nemaline Myopathy	Type 1 muscle fiber predominance, Upper limb muscle weakness, Nemaline bodies, EMG: myopathic abn...	ORPHA:171442
Cardiomyopathy, Dilated, 2G	Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio...	OMIM:619897
Cardiomyopathy, Dilated, 1Kk	Congestive heart failure, Ventricular septal hypertrophy, Atrial fibrillation, Hypertrophic cardi...	OMIM:615248
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume	OMIM:613881
Cardiomyopathy, Dilated, 2I	Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ...	OMIM:620462
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Congestive heart failure, Muscle fiber hyaline bodies, Type 1 muscle fiber predominance, Fourth h...	OMIM:255160
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function	OMIM:609909
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Cardiomyopathy, Dilated, 1V	Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A...	OMIM:613697
Sensorineural Deafness With Dilated Cardiomyopathy	Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy	ORPHA:217622
Myopathy, Distal, 4	Distal upper limb amyotrophy, Cardiomyopathy, Thenar muscle weakness, Skeletal muscle atrophy, Di...	OMIM:614065
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Muscular dystrophy, Cardiomyopathy, EMG: myopathic abnormalities, Increased variability in muscle...	OMIM:608807
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Hyp...	OMIM:300696
Myopathy, Distal, With Rimmed Vacuoles	Internally nucleated skeletal muscle fibers, Rimmed vacuoles, Facial palsy, Scapular winging, EMG...	OMIM:617158
Distal Nebulin Myopathy	Ankle flexion contracture, Cardiomyopathy, EMG: myopathic abnormalities, Nemaline bodies, Weaknes...	ORPHA:399103
Heart-Hand Syndrome, Slovenian Type	Dilated cardiomyopathy, Myopathy	OMIM:610140
Myopathy, Myofibrillar, 1	Bradycardia, Restrictive cardiomyopathy, Facial palsy, EMG: myopathic abnormalities, Hypertrophic...	OMIM:601419
Laing Early-Onset Distal Myopathy	Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Abnormal mitochondria in musc...	ORPHA:59135
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Tibial Muscular Dystrophy, Tardive	Muscular dystrophy, Tibialis anterior muscle atrophy, Rimmed vacuoles, Cardiomyopathy, EMG: myopa...	OMIM:600334
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Lower limb amyotrophy, Calf muscle hypertrophy, Cardiomyopathy, Wrist flexion contracture, Upper ...	ORPHA:206549
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop...	ORPHA:168796
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,...	OMIM:618655
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Muscular dystrophy, Cardiomyopathy, Scapular winging, Increased variability in muscle fiber diame...	OMIM:612999
Cardiomyopathy, Dilated, 1Bb	Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr...	OMIM:612877
Glycogen Storage Disease Due To Lamp-2 Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy	ORPHA:34587
Myopathy, Autophagic Vacuolar, Infantile-Onset	Autophagic vacuoles, Myopathy, Hypertrophic cardiomyopathy	OMIM:609500
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Exercise intolerance, Congestive heart failure, Ragged-red muscle fibers, Hypertension, Fatigue, ...	ORPHA:1349
His Bundle Tachycardia	Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia	ORPHA:3283
Danon Disease	Exercise intolerance, Congestive heart failure, Wolff-Parkinson-White syndrome, Lower limb amyotr...	OMIM:300257
Glycogen Storage Disease 0, Muscle	Left atrial enlargement, Exercise intolerance, Cardiomyopathy, Decreased muscle glycogen content,...	OMIM:611556
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig...	OMIM:613830
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, W...	OMIM:619566
Cardiomyopathy, Familial Hypertrophic, 3	Sudden cardiac death, Hypertrophic cardiomyopathy	OMIM:115196
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Muscle Filaminopathy	Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Right ...	ORPHA:171445
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt...	OMIM:614470
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive, Arrhythmia, Dilated car...	OMIM:616198
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Fatty replacement of ventricular myocardial tissue, Wrist flexion contracture, Nemaline bodies, L...	OMIM:620386
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Congestive heart failure, Abnormal Z disk morphology...	OMIM:618654
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left atrial enlargement, Restrictive cardiomyopathy, Facial palsy, Hypertrophic cardiomyopathy, R...	OMIM:619424
Alpha-B Crystallin-Related Late-Onset Myopathy	Accumulation of muscle fiber desmin, Muscle fiber inclusion bodies, Facial diplegia, Cardiomyopat...	ORPHA:399058
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Congenital Myopathy 2A, Typical, Autosomal Dominant	Facial palsy, EMG: myopathic abnormalities, Nemaline bodies, Limb muscle weakness, Arthrogryposis...	OMIM:161800
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Congenital Myopathy 4A, Autosomal Dominant	Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal m...	OMIM:255310
Barth Syndrome	Dilated cardiomyopathy, Endocardial fibroelastosis	ORPHA:111
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold	OMIM:617572
Cardiomyopathy, Dilated, 2C	Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction	OMIM:618189
Hereditary Myopathy With Early Respiratory Failure	Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Calf m...	ORPHA:178464
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Calf muscle hypertrophy, Muscle fiber necrosis, Increased variability in muscle fiber diameter, F...	OMIM:618848
Sorsby Pseudoinflammatory Fundus Dystrophy	Large central visual field defect, Macular dystrophy, Abnormal fundus autofluorescence imaging, V...	ORPHA:59181
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e...	OMIM:614672
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Exercise intolerance, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Hypertrop...	OMIM:252011
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Heart block, Cardiomyopathy, Weakness of the intrinsic h...	ORPHA:98912
Muscular Dystrophy, Becker Type	Muscular dystrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Arrhythmia, Myalgia, Abnormal EKG	OMIM:300376
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Inclusion Body Myositis	Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Abnorm...	ORPHA:611
Pseudohypoparathyroidism Type 2	Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemi...	ORPHA:94090
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Proximal upper...	ORPHA:98855
Late-Onset Retinal Degeneration	Sub-RPE deposits, Adult-onset night blindness, Visual loss, Choroidal neovascularization, Scotoma...	OMIM:605670
Distal Myotilinopathy	Distal amyotrophy, Cardiomyopathy, EMG: myopathic abnormalities, Abnormal muscle fiber myotilin, ...	ORPHA:98911
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Proximal upper limb amyotrophy, Muscular dystrophy, Proximal muscle weakness in upper limbs, Dist...	OMIM:601954
Mitochondrial Dna Depletion Syndrome 11	Exercise intolerance, Ragged-red muscle fibers, Facial palsy, Generalized amyotrophy, Proximal am...	OMIM:615084
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy...	OMIM:614096
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced...	OMIM:604772
Exudative Vitreoretinopathy 3	Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Muscular dystrophy, Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, S...	ORPHA:300751
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Distal lower limb muscle weakness, Supraventricular arrhythmia, Cardiomyopathy, Leg muscle stiffn...	ORPHA:320360
Emery-Dreifuss Muscular Dystrophy	Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Proximal upper...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Proximal upper...	ORPHA:98853
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl...	ORPHA:488650
Peripartum Cardiomyopathy	Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro...	ORPHA:563
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Facial myokymia, Dilated cardiomyopathy, Limb hypertonia	ORPHA:324588
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial se...	OMIM:617912
Autoimmune Hypoparathyroidism	Irritability, Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Depression, Ventricular...	ORPHA:36913
Myofibrillar Myopathy 11	Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Fatigue,...	OMIM:619178
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy, Decreased body weight	OMIM:618097
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Atrial Standstill	Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Fatigue,...	ORPHA:1344
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Muscular dystrophy, Abdominal pain, Calf muscle hypertrophy, Cardiomyopathy, Triceps weakness, Li...	ORPHA:86812
Myopathy, Distal, Tateyama Type	Calf muscle hypertrophy, Hand muscle weakness, Increased variability in muscle fiber diameter, Ce...	OMIM:614321
Retinitis Pigmentosa 73	Constriction of peripheral visual field, Color vision defect, Bone spicule pigmentation of the re...	OMIM:616544
Left Ventricular Noncompaction 7	Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction	OMIM:615092
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia	OMIM:614896
Polymyositis	Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Myoc...	ORPHA:732
Myopathy, Centronuclear, 5	Centrally nucleated skeletal muscle fibers, Hip contracture, Weakness of facial musculature, Dila...	OMIM:615959
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia	OMIM:620534
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Scapular winging, Fatigue, Angulated muscle fibers, Weakness of facial musculature, Shoulder gird...	OMIM:619477
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Fatigue, Increased vari...	OMIM:253601
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Lower limb amyotrophy...	OMIM:620402
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,...	OMIM:253700
Cardiomyopathy, Dilated, 1G	Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat...	OMIM:604145
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Exercise-induced myalgia, Rimmed vacuoles, Increased variability i...	OMIM:615424
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Left Ventricular Noncompaction 1	Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri...	OMIM:604169
Cardiomyopathy, Familial Restrictive, 1	Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper...	OMIM:115210
Muscular Dystrophy, Congenital, Megaconial Type	Muscular dystrophy, Facial palsy, Dilated cardiomyopathy, Increased endomysial connective tissue,...	OMIM:602541
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Rimmed vacuoles, Scapular winging, Increased variability...	OMIM:619733
Cardiomyopathy, Dilated, 1E	Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr...	OMIM:601154
Cardiomyopathy, Dilated, 2J	Congestive heart failure, Dilated cardiomyopathy, Secundum atrial septal defect, Severely reduced...	OMIM:620635
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy, Asymmetric septal hypertrophy	OMIM:212130
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Retinal degeneration, Bradycardia	OMIM:617173
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Spinal Muscular Atrophy, Type Iv	Calf muscle hypertrophy, Rimmed vacuoles, Spinal muscular atrophy, Muscle fiber necrosis, Increas...	OMIM:271150
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Exercise intolerance, Ragged-red muscle fibers, Generalized amyotrophy, Arrhythmia, Weakness of f...	ORPHA:352447
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Hip flexor weakness, Facial hypotonia, Autophagic vacuoles, EMG: myopathic abnormalities, Increas...	ORPHA:266
Bothnia Retinal Dystrophy	Large central visual field defect, Color vision defect, Central scotoma, Increased OCT-measured f...	ORPHA:85128
3-Methylglutaconic Aciduria, Type V	Congestive heart failure, Prolonged QT interval, Noncompaction cardiomyopathy, Failure to thrive,...	OMIM:610198
Myopathy, Sarcoplasmic Body	Sarcoplasmic bodies, Weakness of the intrinsic hand muscles, Increased variability in muscle fibe...	OMIM:620286
Cardiomyopathy, Familial Hypertrophic, 15	Congestive heart failure, Endocardial fibrosis, Hyperdynamic left ventricular ejection fraction, ...	OMIM:613255
Neuroleptic Malignant Syndrome	Oculogyric crisis, Bradycardia, Hypertension, Hypertensive crisis, Dysphagia, Agitation, Hypocalc...	ORPHA:94093
Cardiomyopathy, Dilated, 1Ii	Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,...	OMIM:615184
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Muscular dystrophy, Calf muscle hypertrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopa...	OMIM:609308
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Sick sinus syndrome, Attention deficit hyperactivity disorder, Bradycardia	OMIM:617182
Cardiomyopathy, Dilated, 2D	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov...	OMIM:619371
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Muscular dystrophy, Calf muscle pseudohypertrophy, Exercise-induced myalgia, Facial palsy, EMG: m...	OMIM:254110
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Failure to thrive, Cardiomyopathy	OMIM:613752
Trimethylaminuria	Anemia, Depression, Hypertension, Splenomegaly, Tachycardia, Neutropenia	OMIM:602079
Acute Zonal Occult Outer Retinopathy	Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac...	ORPHA:284454
Combined Oxidative Phosphorylation Deficiency 31	Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Failure to thrive, I...	OMIM:617228
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Calf muscle pseudohypertrophy, Sc...	OMIM:608358
Cardiomyopathy, Dilated, 2F	Congestive heart failure, Ventricular fibrillation, Ventricular tachycardia, Severely reduced lef...	OMIM:619747
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Flexion contracture, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618815
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Muscular dystrophy, Calf muscle hypertrophy, Myalgia, Achilles tendon contracture, Thigh hypertro...	OMIM:607155
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr...	OMIM:620247
Bardet-Biedl Syndrome 2	Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy, Obesity	OMIM:615981
Spinal Muscular Atrophy, Infantile, James Type	Distal amyotrophy, Increased variability in muscle fiber diameter, Hip contracture, Type 1 muscle...	OMIM:619042
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Monocytosis, Bone marrow hypocellularity, Leukopenia, Refractory anemia	OMIM:616871
Congenital Muscular Dystrophy, Fukuyama Type	Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion con...	ORPHA:272
Tubular Aggregate Myopathy	Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Increased variability in muscle fi...	ORPHA:2593
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d...	OMIM:617280
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Muscle fiber splitting, Scapular winging, Increased variability in muscle fiber diameter, Central...	OMIM:618129
Rhabdomyolysis, Susceptibility To, 1	Exercise intolerance, Type 2 muscle fiber predominance, Increased variability in muscle fiber dia...	OMIM:620235
Loeffler Endocarditis	Left atrial enlargement, Abnormal morphology of the chordae tendinae of the mitral valve, Myocard...	ORPHA:75566
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Exercise intolerance, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy...	OMIM:615352
Oculopharyngodistal Myopathy 2	Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, We...	OMIM:618940
Childhood-Onset Nemaline Myopathy	Exercise intolerance, Generalized limb muscle atrophy, Facial diplegia, Cardiomyopathy, Scapular ...	ORPHA:171439
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti...	OMIM:312700
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Arcuate scotoma, Retinal thinning, Visual loss, Choroidal neov...	ORPHA:179
Giant Axonal Neuropathy 2, Autosomal Dominant	Distal amyotrophy, Cardiomyopathy	OMIM:610100
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Exercise intolerance, Supraventricular tachycardia, Cardiomyopathy, Fatty replacement of skeletal...	OMIM:255100
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin	ORPHA:231249
Muscular Dystrophy, Duchenne Type	Muscular dystrophy, Congestive heart failure, Calf muscle pseudohypertrophy, Calf muscle hypertro...	OMIM:310200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Muscular dystrophy, Exercise intolerance, Muscle fiber necrosis, Limb muscle weakness, Limb-girdl...	OMIM:616812
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hypotension, Elevated circulating creatine kinase concentration, Tachycardia, Hyper...	OMIM:145600
Tibial Muscular Dystrophy	Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Ce...	ORPHA:609
Familial Drusen	Granular macular appearance, Macular dystrophy, Visual loss, Peripapillary chorioretinal atrophy,...	ORPHA:75376
Adult-Onset Foveomacular Vitelliform Dystrophy	Color vision defect, Abnormality of vision, Retinal nonattachment, Choroideremia, Visual field de...	ORPHA:99000
Cardiomyopathy, Familial Hypertrophic, 28	Left atrial enlargement, Systolic anterior motion of the mitral valve, Concentric hypertrophic ca...	OMIM:619402
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Exercise intolerance, Ankle flexion contracture, Dilated cardiomyopathy, Rhabdomyolysis	OMIM:618120
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Global systolic dysfunction, Cardiomyopathy, Nemaline bodies, Limb muscle weakness	OMIM:606842
Cardiomyopathy, Dilated, 1S	Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec...	OMIM:613426
Cardiomyopathy, Familial Hypertrophic, 21	Sudden death, Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Mit...	OMIM:614676
Immunodeficiency 91 And Hyperinflammation	Hemophagocytosis, Monocytosis, Lymphadenopathy, Elevated circulating C-reactive protein concentra...	OMIM:619644
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Muscle fiber splitting, Ankle flexion contracture, Calf muscle hypertrophy, Rimmed vacuoles, Incr...	OMIM:617760
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Muscular dystrophy, Bradycardia, Atrial fibrillation, Increased variability in muscle fiber diame...	OMIM:614302
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, S...	OMIM:601214
Cherubism	Marcus Gunn pupil, Macular scar, Optic neuropathy, Submandibular lymph node enlargement	OMIM:118400
Myopathy, Myofibrillar, 4	Muscle fiber splitting, Autophagic vacuoles, Cardiomyopathy, EMG: myopathic abnormalities, Myofib...	OMIM:609452
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular...	OMIM:608751
Isobutyryl-Coa Dehydrogenase Deficiency	Pulmonic stenosis, Dilated cardiomyopathy	ORPHA:79159
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Mantle Cell Lymphoma	Anorexia, Lymphadenopathy, Splenomegaly	ORPHA:52416
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Facial myokymia, Dilated cardiomyopathy, Congestive heart failure, Limb hypertonia	OMIM:606703
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Arthrogryposis multiplex congenita, Ventricular septal defect, Skeletal m...	OMIM:607598
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua...	OMIM:180210
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Ankle flexion contracture, Central core regions in muscle fibers, Nemaline bodies, Increased vari...	OMIM:117000
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc...	OMIM:115200
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Polyphagia, Increased blood urea nitrogen, H...	OMIM:620085
Macular Degeneration, Age-Related, 1	Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ...	OMIM:603075
Pseudohypoparathyroidism Type 1B	Irritability, Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Depression, Hypocalcemi...	ORPHA:94089
Myopathy, Tubular Aggregate, 1	Exercise-induced myalgia, Weakness of the intrinsic hand muscles, Increased variability in muscle...	OMIM:160565
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
Cardiomyopathy, Familial Hypertrophic, 18	Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricula...	OMIM:613874
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Left ventricular systolic dysfunction, Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Sc...	ORPHA:353
Triose Phosphate-Isomerase Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	ORPHA:868
Retinitis Pigmentosa 70	Constriction of peripheral visual field, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:615922
Congenital Myopathy 24	Facial palsy, Cardiomyopathy, Nemaline bodies, Scapular winging, First degree atrioventricular bl...	OMIM:617336
Combined Oxidative Phosphorylation Deficiency 34	Increased blood urea nitrogen, Hypoglycemia, Elevated circulating creatinine concentration, Pancy...	OMIM:617872
Cardiomyopathy, Familial Hypertrophic, 20	Atrial fibrillation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Lef...	OMIM:613876
Mitochondrial Complex I Deficiency, Nuclear Type 13	Irritability, Decreased circulating carnitine concentration, Bradycardia, Cardiac arrest, Hypertr...	OMIM:618235
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Systolic anterior motion of the mitral valve, Reduced left ventricular endsystolic diameter, Left...	OMIM:620236
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Exercise intolerance, Ragged-red muscle fibers, EMG: myopathic abnormalities, Hypertrophic cardio...	OMIM:615418
Muscular Dystrophy, Cardiac Type	Muscular dystrophy, Cardiomyopathy, Abnormal EKG	OMIM:309930
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Carnitine-Acylcarnitine Translocase Deficiency	Irritability, Neonatal hypoglycemia, Bradycardia, Cardiomyopathy, Cardiac arrest, Premature ventr...	OMIM:212138
Barth Syndrome	Exercise intolerance, Congestive heart failure, Fatigue, Hypertrophic cardiomyopathy, Tricuspid r...	OMIM:302060
Combined Oxidative Phosphorylation Deficiency 10	Optic atrophy, Bradycardia, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Dystoni...	OMIM:614702
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Mildly elevated creatine kinase, Dysphagia, Bradycardia	OMIM:620265
Reticuloendotheliosis, X-Linked	Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, Increased variability in muscle...	ORPHA:34516
Idiopathic/Heritable Pulmonary Arterial Hypertension	Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Fatigue, Pulmonary a...	ORPHA:422
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Anemia, Pancytopenia, Hyperuricemia, Pulmonary arterial hypertension, Increased blood urea nitrog...	OMIM:613845
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Cardiomyopathy, Increased variability in muscle fiber diameter, Pelvic g...	ORPHA:119
Blue Diaper Syndrome	Increased proinsulin:insulin ratio, Hyperphosphatemia, Hypercalcemia, Recurrent hypoglycemia	ORPHA:94086
Hemochromatosis, Type 2A	Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia	OMIM:602390
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ...	OMIM:613251
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia	OMIM:611938
Myopathy, Scapulohumeroperoneal	Scapular winging, Facial palsy, Nemaline bodies, Increased variability in muscle fiber diameter, ...	OMIM:616852
Cardiomyopathy, Familial Hypertrophic, 16	Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril...	OMIM:613838
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Bradycardia, Hyperalaninemia, Hypoglycemia, Decreased plasma free carni...	OMIM:619048
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Irritability, Hyperphosphatemia, Hypocalcemic seizures	OMIM:146200
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Muscular dystrophy, Torticollis, Increased variability in muscle fiber diameter, Skeletal muscle ...	OMIM:613204
Autosomal Dominant Hypocalcemia	Optic atrophy, Congestive heart failure, Writer's cramp, Hypocalcemia, Depression, Emotional labi...	ORPHA:428
Myopathy, Myofibrillar, 2	Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Hypertrophic cardiomyop...	OMIM:608810
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Muscle fiber splitting, Facial palsy, Limb muscle weakness, Increased variability in muscle fiber...	OMIM:616313
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Failure to thrive, Rhabdomyolysis, Arrhythmia, Small for gestational ag...	OMIM:609015
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Congestive heart failure, Portal hypertension, Failure to thrive, Skeletal muscle atrophy, Abnorm...	ORPHA:367
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Sudden death, Asymmetric septal hypertrophy, Arrhythmia, Subvalvular ao...	OMIM:192600
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular septal hypertrophy, Palpitations, ST segment elevation, Ventricular hypertrophy, Card...	ORPHA:263297
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Muscular dystrophy, Ankle flexion contracture, Premature ventricular contraction, Increased varia...	OMIM:617072
Aminoacylase 1 Deficiency	Hyperactivity, Bradycardia	OMIM:609924
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ...	OMIM:300717
Dk1-Cdg	Congestive heart failure, Failure to thrive, Cardiomyocyte hypertrophy, Interstitial cardiac fibr...	ORPHA:91131
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Atrial Fibrillation, Familial, 10	Left atrial enlargement, Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent a...	OMIM:614022
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo...	ORPHA:324575
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Sudden death	OMIM:609016
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy	OMIM:619688
Bethlem Myopathy 2	Increased variability in muscle fiber diameter, Scapular winging, Flexion contracture, Myopathy	OMIM:616471
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio	OMIM:613978
Drug-Induced Lupus Erythematosus	Anemia, Elevated circulating C-reactive protein concentration, Prolonged QTc interval, Elevated c...	ORPHA:231111
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Fatigue, Increased vari...	OMIM:613157
Chronic Atrial And Intestinal Dysrhythmia	Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Pulmonic stenosis, Ventric...	OMIM:616201
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, ...	OMIM:603552
Hypotonia, Infantile, With Psychomotor Retardation	Increased variability in muscle fiber diameter, Ventricular septal defect, Myopathy	OMIM:616816
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy	ORPHA:2229
Lipoyltransferase 1 Deficiency	Bradycardia, Pulmonary arterial hypertension, Increased total bilirubin, Dystonia, Hyperprolinemi...	OMIM:616299
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Nemaline Myopathy 2	Muscle fiber splitting, Calf muscle pseudohypertrophy, Rimmed vacuoles, EMG: myopathic abnormalit...	OMIM:256030
Atrial Septal Defect, Sinus Venosus Type	Left-to-right shunt, Right ventricular dilatation, Supraventricular arrhythmia, Fatigue, Pulmonar...	ORPHA:99105
Acyl-Coa Dehydrogenase 9 Deficiency	Congestive heart failure, Cerebellar hemorrhage, EMG: myopathic abnormalities, Hypertrophic cardi...	ORPHA:99901
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Failure to thrive, Myopathy, Hypertrophic cardiomyopathy	ORPHA:91130
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ...	OMIM:620542
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis	OMIM:619281
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Muscle fiber splitting, Lower limb amyotrophy, Ragged-red muscle fibers, Rimmed vacuoles, Upper l...	OMIM:616924
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs	ORPHA:1878
Coloboma Of Macula	Macular coloboma	OMIM:120300
Myasthenic Syndrome, Congenital, 14	Knee flexion contracture, Ragged-red muscle fibers, Scapular winging, Muscle fiber tubular inclus...	OMIM:616228
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia	OMIM:203330
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ...	OMIM:608758
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula...	OMIM:618920
Combined Oxidative Phosphorylation Deficiency 28	Ragged-red muscle fibers, Abdominal pain, Congestive heart failure, Fatigue	OMIM:616794
Cardiomyopathy, Familial Hypertrophic, 27	Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper...	OMIM:618052
Cardiomyopathy, Dilated, 1Y	Congestive heart failure, Atrial fibrillation, Ebstein anomaly of the tricuspid valve, Left ventr...	OMIM:611878
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Distal amyotrophy, Rimmed vacuoles, Limb muscle weak...	OMIM:619473
Beta-Thalassemia, Dominant Inclusion Body Type	Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc...	OMIM:603902
Triokinase And Fmn Cyclase Deficiency Syndrome	Failure to thrive in infancy, Dilated cardiomyopathy, Reduced systolic function	OMIM:618805
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f...	ORPHA:66529
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Long Qt Syndrome 16	Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia	OMIM:618782
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Prolonged QT interval, Patent foramen ovale, Pain, Pericardial effusion, Ex...	ORPHA:26793
Immunodeficiency 27A	Anorexia, Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesen...	OMIM:209950
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Left ventricular systolic dysfunction, Patent foramen ovale, Tricuspid regurgitation, Left ventri...	OMIM:619167
Congenital Myopathy 15	Camptodactyly, Tricuspid regurgitation, Increased variability in muscle fiber diameter, Weakness ...	OMIM:620161
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function	OMIM:619492
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Coenzyme Q10 Deficiency, Primary, 7	Dysphagia, Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Failure to thrive, Cardiomyopathy	OMIM:619651
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Hyperkalemia, Agitation, Anemia, Melena, Capillary leak, Hypertension, Hypotension, ...	ORPHA:340
Long-Olsen-Distelmaier Syndrome	Congestive heart failure, Failure to thrive, Secundum atrial septal defect, Severely reduced left...	OMIM:620609
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Atrial Standstill 1	Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d...	OMIM:108770
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anemia, Hypertension, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anemia, Hypertension, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anemia, Hypertension, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic...	OMIM:612926
Cap Myopathy	Lower limb amyotrophy, Sinus tachycardia, Facial palsy, Reduced systolic function, Increased vari...	ORPHA:171881
Thrombotic Thrombocytopenic Purpura, Hereditary	Tremor, Transient ischemic attack, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopen...	OMIM:274150
Paget Disease Of Bone 5, Juvenile-Onset	Angioid streaks of the fundus, Hydroxyprolinemia, Hyperuricemia, Retinopathy, Retinal degeneratio...	OMIM:239000
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Kenny-Caffey Syndrome, Type 2	Anemia, Transient hypophosphatemia, Retinal calcification, Hypocalcemia, Papilledema, Hyperphosph...	OMIM:127000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anemia, Hypertension, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic...	OMIM:612924
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Muscle fiber splitting, Calf muscle hypertrophy, Rimmed vacuoles, Scapular winging, Myofibrillar ...	OMIM:603689
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Severe X-Linked Mitochondrial Encephalomyopathy	Increased variability in muscle fiber diameter, Skeletal muscle atrophy	ORPHA:238329
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Cardiomyopathy, Finger joint contracture, Telangiectasia of the skin, Dilated cardiomyopathy, Mit...	OMIM:212112
Congenital Myopathy 18	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Centrally n...	OMIM:620246
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Anemia, Orthostatic hypotension, Elevated circulating creatinine concentration,...	ORPHA:230
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Congenital Myopathy 3 With Rigid Spine	Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Decreased body...	OMIM:602771
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Atrial fibrillation, Ventricular hypertrophy, Hypertrophic cardio...	OMIM:613690
Congenital Myopathy 20	Scapular winging, Nemaline bodies, Congenital contracture, Increased variability in muscle fiber ...	OMIM:620310
Duchenne Muscular Dystrophy	Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy	ORPHA:98896
Romano-Ward Syndrome	Torsade de pointes, Hypokalemia, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmi...	ORPHA:101016
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto...	OMIM:612124
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Distal amyotrophy, Rimmed vacuoles, Autophagic vacuoles, Facial p...	OMIM:164310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy	OMIM:618992
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, ...	OMIM:613101
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Paternal Uniparental Disomy Of Chromosome 1	Macular dystrophy, Abnormal retinal morphology on macular OCT, Hypertension, Polyphagia, Episodic...	ORPHA:251004
Congenital Myopathy 10A, Severe Variant	Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Camptodactyly of finger, Incre...	OMIM:614399
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia	OMIM:601198
Congenital Myopathy 14	Knee flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diamet...	OMIM:618414
Congenital Myopathy 6 With Ophthalmoplegia	Muscle fiber inclusion bodies, Scapular winging, Congenital contracture, Increased variability in...	OMIM:605637
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy	OMIM:600649
Genetic Recurrent Myoglobinuria	Hyperkalemia, Hypocalcemia, Arrhythmia, Hyperphosphatemia, Highly elevated creatine kinase	ORPHA:99845
Beta-Thalassemia	Irritability, Abnormality of iron homeostasis, Anemia, Hypertrophic cardiomyopathy, Thrombocytope...	ORPHA:848
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anemia, Hypertension, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic...	OMIM:612925
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ...	OMIM:619802
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Increased variability in muscle fiber diameter, Failure to thrive in infancy, Increased intramyoc...	OMIM:619065
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia	OMIM:603233
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat...	ORPHA:99106
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Knee flexion contracture, Elbow flexion contracture, Increased variabi...	OMIM:619461
Hyperinsulinism Due To Ucp2 Deficiency	Hypoglycemic seizures, Agitation, Hypoketotic hypoglycemia, Palpitations, Tachycardia, Polyphagia...	ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoglycemic seizures, Agitation, Hyperinsulinemia, Maternal diabetes, Hypoketotic hypoglycemia, ...	ORPHA:276580
Malonyl-Coa Decarboxylase Deficiency	Left ventricular noncompaction cardiomyopathy, Abdominal pain, Dilated cardiomyopathy	OMIM:248360
Timothy Syndrome	Prolonged QT interval, Bradycardia, Hypocalcemia, Pulmonary arterial hypertension, Atrioventricul...	OMIM:601005
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Patent foramen ovale, Spinal muscular atrophy, Increased variability in muscle fiber diameter, Fl...	OMIM:616867
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Exercise intolerance, Exercise-induced myalgia, Muscle fiber necrosis, Increased variability in m...	OMIM:620138
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Spondyloepiphyseal Dysplasia, Nishimura Type	Hypocalcemia, Hyperphosphatemia	OMIM:618618
Adult Idiopathic Neutropenia	Monocytopenia, Monocytosis, Neutropenia, Lymphopenia	ORPHA:2688
Pulmonary Hypertension, Primary, 5	Angina pectoris, Pulmonary arterial hypertension, Fatigue, Right ventricular failure, Right ventr...	OMIM:265400
Congenital Heart Block	Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv...	ORPHA:60041
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Congestive heart failure, Patent foramen ovale, Cardiomyopathy, Spinal muscular atrophy, Increase...	OMIM:616866
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Left ventricular systolic dysfunction, Ventricular bigeminy, Patent foramen ovale, Tricuspid regu...	OMIM:620519
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Exercise intolerance, Ragged-red muscle fibers, Scapular winging, Muscle fiber necrosis, Increase...	OMIM:607459
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Supraventricular tachycardia, Premature ventricular contraction, Elevated creatine ...	ORPHA:423
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Bradycardia, Impaired glucose tolerance, Intention tremor, Dystonia, Atrioventricular block, Gluc...	OMIM:614407
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoglycemic seizures, Agitation, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemi...	ORPHA:276575
Mcleod Syndrome	Atrial fibrillation, Cardiomyopathy, Rhabdomyolysis, Dilated cardiomyopathy, Myopathy	OMIM:300842
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, R...	ORPHA:542306
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Calf muscle...	OMIM:618138
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Dystonia, Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Attrv122I Amyloidosis	Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection...	ORPHA:85451
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal hypertroph...	OMIM:115197
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Abnormal atrioventricular conduction, Exercise intolerance, Exercise-induced myalgia, Cardiomyopa...	ORPHA:329336
Rhabdoid Tumor	Irritability, Anemia, Lymphadenopathy, Hypertension, Internal hemorrhage, Thrombocytopenia, Hyper...	ORPHA:69077
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin	ORPHA:3319
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Muscular dystrophy, Calf muscle hypertrophy, Facial palsy, Cardiomyopathy, Flexion contracture, M...	OMIM:613155
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Normochromic anemia, Bradycardia, Elevated circulating creatine kin...	OMIM:618775
Immune-Mediated Necrotizing Myopathy	Myocarditis, Congestive heart failure, Myositis, Scapular winging, EMG: myopathic abnormalities, ...	ORPHA:206569
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia	OMIM:192605
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormal lymph node morphology, Hyperuricemia, Decreased proportion ...	ORPHA:543
Hjv Or Hamp-Related Hemochromatosis	Dilated cardiomyopathy	ORPHA:79230
Coronary Arterial Fistula	Atrial septal defect, Congestive heart failure, Cardiomegaly, Tachycardia, Angina pectoris, Bacte...	ORPHA:2041
Coenzyme Q10 Deficiency, Primary, 5	Dystonia, Hyperalaninemia, Bradycardia	OMIM:614654
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Refractory Celiac Disease	Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr...	ORPHA:398063
Myopathy, Myofibrillar, 7	Urinary incontinence, Shoulder flexion contracture, Type 2 muscle fiber predominance, Elbow flexi...	OMIM:617114
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Flexi...	OMIM:618484
Alpha-Heavy Chain Disease	Hypocalcemia, Lymphadenopathy, Anemia, Splenomegaly	ORPHA:100025
Necrotizing Enterocolitis	Neutropenia, Abnormal glucose homeostasis, Bradycardia, Hypotension, Leukocytosis, Hyponatremia, ...	ORPHA:391673
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hypertension, Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, M...	OMIM:235400
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy	ORPHA:70595
Pseudohypoparathyroidism Type 1C	Irritability, Calcinosis, Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Depression,...	ORPHA:79444
D-Glyceric Aciduria	Elevated circulating D-glyceric concentration, Tongue thrusting, Bradycardia, Nonketotic hypergly...	OMIM:220120
Oculopharyngodistal Myopathy 4	Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnormalities, Increased variability in musc...	OMIM:619790
Short Chain Acyl-Coa Dehydrogenase Deficiency	Failure to thrive, Cardiomyopathy, Myopathy	ORPHA:26792
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,...	ORPHA:486
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Muscular dystrophy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal ...	OMIM:617066
Morm Syndrome	Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior	ORPHA:75858
Tetanus	Bradycardia, Hypertension, Tremor, Elevated circulating creatine kinase concentration, Opisthoton...	ORPHA:3299
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Congestive heart failure, Hip pain, Rimmed vacuoles, Cardiomyopathy, EMG: myopathic abnormalities...	ORPHA:52430
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Immunodeficiency 32B	Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, Eosinophili...	OMIM:226990
Leishmaniasis	Anorexia, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Sple...	ORPHA:507
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi...	ORPHA:45453
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Reduced haptoglobin level, Hyperbilirubinemia, Anemia of inadequate p...	OMIM:613673
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Bradycardia, Depression, Cardiomyopathy, Dysphagia, Arrhythmia, Diabetes mellitus	OMIM:609286
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Renovascular hypertension, Bicuspid aortic valve, Dilated cardiomyopathy, O...	ORPHA:401923
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Exercise into...	ORPHA:368
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Ullrich Congenital Muscular Dystrophy	Torticollis, Elbow flexion contracture, EMG: myopathic abnormalities, Increased variability in mu...	ORPHA:75840
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Immunodeficiency 104	Lymphadenopathy, Splenomegaly, T lymphocytopenia	OMIM:608971
Acitretin/Etretinate Embryopathy	Bradycardia, Hypoplasia of the thymus, Abnormal retinal morphology, Aplasia/Hypoplasia of the opt...	ORPHA:40366
Glycogen Storage Disease Xv	Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Scapular win...	OMIM:613507
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Reduced left ventricula...	OMIM:620152
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Hyperinsulinemia, Prolonged QT interval, Bradycardia, Atrial fibrillation, ...	OMIM:613327
Congenital Disorder Of Glycosylation, Type It	Exercise intolerance, Tachycardia, Fatigue, Pulmonary arterial hypertension, Aborted sudden cardi...	OMIM:614921
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
Autosomal Dominant Progressive External Ophthalmoplegia	Hypomimic face, Exercise intolerance, Reduced left ventricular ejection fraction, Ragged-red musc...	ORPHA:254892
Congenital Myopathy 1B, Autosomal Recessive	Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Exercise-induced myalgia, Fa...	OMIM:255320
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Ischemic stroke, Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage	ORPHA:280679
Glycogen Storage Disease Iv	Bradycardia, Cardiomyopathy, Portal hypertension, Hepatosplenomegaly, Abnormal circulating creati...	OMIM:232500
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Exercise intolerance, Ragged-red muscle fibers, Cardiomyopathy, EMG: myopathic abnormalities, Mus...	OMIM:258450
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Congestive heart failure, Abdominal pain, Cardiomyopathy, Failure to thrive, Hematochezia, Skelet...	OMIM:615895
Glycogen Storage Disease Iii	Distal amyotrophy, Ventricular hypertrophy, Cardiomyopathy, Myopathy	OMIM:232400
Cardiomyopathy, Familial Hypertrophic, 17	Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Myocardial fibro...	OMIM:613873
Congenital Gerbode Defect	Chest pain, Perimembranous ventricular septal defect, Congestive heart failure, Abnormal tricuspi...	ORPHA:99095
Orthostatic Hypotension 1	Neonatal hypoglycemia, Orthostatic hypotension, Atrial fibrillation, Increased blood urea nitroge...	OMIM:223360
Intellectual Developmental Disorder, X-Linked 109	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	OMIM:309548
Mitochondrial Complex I Deficiency, Nuclear Type 20	Exercise intolerance, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:611126
Myopia 3, Autosomal Dominant	Retinal detachment	OMIM:603221
Myopia 25, Autosomal Dominant	Retinal detachment	OMIM:617238
Myopia 2, Autosomal Dominant	Retinal detachment	OMIM:160700
Myopia 5, Autosomal Dominant	Retinal detachment	OMIM:608474
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Proximal muscle weakness in upper limbs, Limb muscle weakness, Increased variability in muscle fi...	OMIM:613954
Cinca Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Pap...	OMIM:607115
Sudden Cardiac Failure, Infantile	Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d...	OMIM:617222
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Vasculitis, Elev...	OMIM:308240
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Prolonged QT interval, Hypocalcemia, Sinus tachycardia, Abnormal pulse pressure, Hy...	ORPHA:466650
Tularemia	Cervical lymphadenopathy, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Leukocytosis, Thr...	ORPHA:3392
X-Linked Emery-Dreifuss Muscular Dystrophy	Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Proximal upper...	ORPHA:98863
Fraxe Intellectual Disability	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	ORPHA:100973
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Tricuspid regurgitation, Cerebral hemorrhage, Left ventricular dilatation, Dilated c...	OMIM:620300
Pseudohypoparathyroidism, Type Ic	Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany	OMIM:612462
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Laryngeal Neuroendocrine Tumor	Anorexia, Elevated circulating carcinoembryonic antigen concentration, Chronic noninfectious lymp...	ORPHA:100083
Marburg Hemorrhagic Fever	Bradycardia, Reticulocytosis, Pericarditis, Hyperammonemia, Leukopenia, Lymphopenia, Elevated cir...	ORPHA:99826
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Leukocytosis,...	OMIM:620565
Pseudohypoparathyroidism Type 1A	Irritability, Calcinosis, Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Depression,...	ORPHA:79443
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, ...	OMIM:613179
Autosomal Recessive Progressive External Ophthalmoplegia	Exercise intolerance, Ragged-red muscle fibers, Cardiomyopathy, Scapular winging, Facial palsy, H...	ORPHA:254886
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Ventricular tachycardia, Dilated cardiomyopathy	OMIM:615821
Glycine Encephalopathy 1	Irritability, Hyperactivity, Impulsivity, Restlessness, Hyperglycinemia, Aggressive behavior	OMIM:605899
Cardiomyopathy, Familial Hypertrophic, 13	Biventricular hypertrophy, Left anterior fascicular block, Concentric hypertrophic cardiomyopathy...	OMIM:613243
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia, Bradycardia	ORPHA:95717
Attrv30M Amyloidosis	Cardiomyopathy, Atrioventricular block, Weight loss, Arrhythmia, Cardiomegaly	ORPHA:85447
Congenital Multicore Myopathy With External Ophthalmoplegia	Internally nucleated skeletal muscle fibers, Muscular dystrophy, Tibialis anterior muscle atrophy...	ORPHA:98905
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Agitation, Hyperinsulinemia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Tremor, Tachycardia,...	ORPHA:276608
Heme Oxygenase 1 Deficiency	Increased circulating ferritin concentration, Lymphadenopathy, Elevated circulating C-reactive pr...	OMIM:614034
Atrial Standstill 2	Bradycardia, Cardiomyopathy, Atrial arrhythmia, Hyperpepsinogenemia I, Absent P wave, Palpitation...	OMIM:615745
Chromosome 1P36 Deletion Syndrome, Proximal	Atrial septal defect, Wolff-Parkinson-White syndrome, Coronary artery fistula, Patent foramen ova...	OMIM:619343
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Pulmonary arterial hype...	OMIM:612541
Isolated Atp Synthase Deficiency	Exercise intolerance, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:254913
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic seizures, Anemia, Retinal calcification, Papilledema, Hypocalcemic tetany, Hyperphos...	ORPHA:93325
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Epistaxis, Inguinal lymphadenopathy, Abnormal circulating C-reactive protein concentratio...	OMIM:620514
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated circulating C...	OMIM:615559
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperphosphatemia, Calcinosis, Hypercalcemia, Angioid streaks of the fundus	OMIM:211900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Atrial septal defect, Muscular dystrophy, Transposition of the great arteries, Calf muscle hypert...	OMIM:253800
Congenital Myopathy 10B, Mild Variant	Increased endomysial connective tissue, Generalized limb muscle atrophy, Type 1 and type 2 muscle...	OMIM:620249
Takayasu Arteritis	Abnormal endocardium morphology, Abnormal aortic valve morphology, Abnormal heart valve morpholog...	ORPHA:3287
Short Qt Syndrome 2	Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde...	OMIM:609621
Myopathic Ehlers-Danlos Syndrome	Exercise intolerance, Ankle flexion contracture, Weakness of facial musculature, Foot joint contr...	ORPHA:536516
Autoinflammation With Episodic Fever And Lymphadenopathy	Lymphadenopathy, Microcytic anemia, Splenomegaly, Recurrent tonsillitis	OMIM:618852
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Anorexia, Lymphadenopathy, Splenomegaly	ORPHA:86893
Dilated Cardiomyopathy With Ataxia	Muscular ventricular septal defect, Prolonged QT interval, Generalized amyotrophy, Diaphragmatic ...	ORPHA:66634
Neutrophilic Dermatosis, Acute Febrile	Small vessel vasculitis, Dilated cardiomyopathy, Arthralgia, Myalgia	OMIM:608068
Neonatal Lupus Erythematosus	Heart block, Prolonged QT interval, Abnormal heart morphology, Arrhythmia, Atrioventricular block...	ORPHA:398124
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration	OMIM:193230
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Leukocyte Adhesion Deficiency, Type Iii	Anemia, Abnormal lymph node morphology, Leukocytosis, Epistaxis, Hepatosplenomegaly, Splenomegaly...	OMIM:612840
Carnitine Palmitoyl Transferase 1A Deficiency	Fatigue, Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Arrhythmia, Sudden cardiac death	ORPHA:156
Primary Myelofibrosis	Anorexia, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hypertensio...	ORPHA:824
Cystinosis	Polydipsia, Hypokalemia, Portal hypertension, Retinopathy, Hypophosphatemia, Motor stereotypy, Ty...	ORPHA:213
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:241410
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Paroxysmal Nocturnal Hemoglobinuria	Anemia, Reduced haptoglobin level, Pancytopenia, Hypertension, Abnormal erythrocyte enzyme concen...	ORPHA:447
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Failure to thrive, Cardiomyocyte hypertrophy, Ventricular tachycardia, ...	OMIM:605676
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Elevated ci...	OMIM:613011
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	EMG: myopathic abnormalities, Limb muscle weakness, Increased variability in muscle fiber diamete...	ORPHA:486815
Pandas	Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E...	ORPHA:66624
Creatine Phosphokinase, Elevated Serum	Muscular dystrophy, Inflammatory myopathy, EMG: myopathic abnormalities, Fatigue, Abnormal muscle...	OMIM:123320
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Anemia, Hemophagocyt...	OMIM:267700
Colchicine Poisoning	Myocarditis, Congestive heart failure, Hypokalemia, Hypocalcemia, Hypotension, Hypovolemia, Leuko...	ORPHA:31824
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Budd-Chiari syndrome, Cerebral ischem...	OMIM:263300
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Tr...	OMIM:616501
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy,...	ORPHA:2348
Ullrich Congenital Muscular Dystrophy 1A	Muscular dystrophy, Reduced muscle collagen VI, Torticollis, Facial palsy, Muscle fiber necrosis,...	OMIM:254090
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Iron deficiency anemia, Lymphadenopathy...	OMIM:603909
Pparg-Related Familial Partial Lipodystrophy	Congestive heart failure, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy,...	ORPHA:79083
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Aapoaiv Amyloidosis	Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular...	ORPHA:439232
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:231530
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ...	OMIM:612240
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Pseudohypoparathyroidism, Type Ia	Hyperphosphatemia, Hypocalcemic tetany	OMIM:103580
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative disorder, Leukocyt...	ORPHA:3226
Glutamine Deficiency, Congenital	Hyperammonemia, Hypoglutaminemia, Bradycardia	OMIM:610015
Progressive Familial Heart Block, Type Ii	Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc...	OMIM:140400
Aggressive Systemic Mastocytosis	Anorexia, Gastrointestinal hemorrhage, Anemia, Increased proportion of CD25+ mast cells, Lymphade...	ORPHA:98850
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Fatigue, Arthralgia, Skeletal muscle atrophy, Mitral valve prolapse,...	ORPHA:230839
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card...	OMIM:618447
Ullrich Congenital Muscular Dystrophy 2	Muscular dystrophy, Increased variability in muscle fiber diameter, Facial palsy, Flexion contrac...	OMIM:616470
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec...	ORPHA:439
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Bradycardia, Hyperhomocystinemia, Megaloblastic anemia, Tremor, Cardiac a...	OMIM:277400
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Muscle fiber splitting, Muscular dystrophy, Increased variability in muscle fiber diameter, Mothe...	OMIM:226670
Alpha-Thalassemia	Anisopoikilocytosis, Congestive heart failure, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatos...	ORPHA:846
Sepsis In Premature Infants	Anemia, Elevated circulating C-reactive protein concentration, Bradycardia, Hypotension, Leukocyt...	ORPHA:90051
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Atrial Septal Defect, Ostium Secundum Type	Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric...	ORPHA:99103
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Right ventricular dilatation, Limb-girdle muscular dystrophy, Myopathy, Myalgia	ORPHA:369847
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ...	OMIM:615616
Schnitzler Syndrome	Anemia, Lymphadenopathy, Vasculitis, Leukocytosis, Splenomegaly	ORPHA:37748
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Polydipsia, Hyperphosphatemia, Hypercalcemia	OMIM:617994
Interstitial Nephritis, Karyomegalic	Increased blood urea nitrogen, Glycosuria, Elevated circulating creatinine concentration	OMIM:614817
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circulating C-reactive protein co...	ORPHA:54251
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Vasculitis, Neutropenia in presence of anti-...	OMIM:601859
Congenital Toxoplasmosis	Thrombocytopenia, Abnormality of retinal pigmentation, Anemia, Lymphadenopathy	ORPHA:858
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Crimean-Congo Hemorrhagic Fever	Hematemesis, Bradycardia, Hypertension, Epistaxis, Splenomegaly, Leukopenia, Diffuse alveolar hem...	ORPHA:99827
Cardiomyopathy, Familial Hypertrophic, 26	Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br...	OMIM:617047
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Failure to thrive, Ventric...	OMIM:300952
Atrial Septal Defect, Coronary Sinus Type	Presyncope, Exercise intolerance, Increased pulmonary vascular resistance, Supraventricular arrhy...	ORPHA:99104
Mu-Heavy Chain Disease	Lymphadenopathy, Anemia, Splenomegaly, Abnormal B cell count	ORPHA:100024
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Dilated cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:614299
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Carnitine Deficiency, Systemic Primary	Congestive heart failure, Reduced muscle carnitine level, Cardiomyopathy, Hypertrophic cardiomyop...	OMIM:212140
Autosomal Dominant Optic Atrophy Plus Syndrome	Limb-girdle muscle weakness, Cardiomyopathy, Myopathy, Fatigue	ORPHA:1215
Retinitis Pigmentosa And Erythrocytic Microcytosis	Bone spicule pigmentation of the retina, Anemia, Photoreceptor layer loss on macular OCT, Retinal...	OMIM:616959
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death	OMIM:600919
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Congestive heart failure, Irritability, Abnormal fear-induced behavior, Hyperactivity, ...	ORPHA:3077
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Opisthotonus, Bradycardia	OMIM:619814
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
X-Linked Centronuclear Myopathy	Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal muscle fibers, ...	ORPHA:596
Melas	Exercise intolerance, Wolff-Parkinson-White syndrome, Concentric hypertrophic cardiomyopathy, Rag...	ORPHA:550
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating...	OMIM:620282
Andersen-Tawil Syndrome	Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,...	ORPHA:37553
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Pulmonary insufficiency, B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal cen...	ORPHA:277
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P...	OMIM:614021
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Emotional lability, Hypertension, Increased blood urea nitrogen, Tachyca...	OMIM:223900
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Anemia, Pericarditis, Abnormal hemoglobin, Splenomegaly	ORPHA:163596
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Wild Type Attr Amyloidosis	Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v...	ORPHA:330001
Uremic Pruritus	Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia, Renal hypophosphatemia	ORPHA:94059
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Increased variability in muscle fiber diameter, Macroglossia, Skeletal muscle atrophy	OMIM:151800
Indomethacin Embryofetopathy	Atrial septal defect, Ventricular septal defect, Cardiomyopathy	ORPHA:1909
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Optic atrophy, Bradycardia	OMIM:614498
Lujo Hemorrhagic Fever	Myocarditis, Elevated circulating C-reactive protein concentration, Bradycardia, Resting tremor, ...	ORPHA:319213
Arterial Calcification, Generalized, Of Infancy, 1	Congestive heart failure, Hypertension, Cardiomegaly, Dilated cardiomyopathy, Myocardial infarction	OMIM:208000
Phenylketonuria	Irritability, Hyperactivity, Depression, Hyperphenylalaninemia, Compulsive behaviors, Attention d...	OMIM:261600
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Flexion contracture, Cardiomyopathy, Myopathy, Nemaline bodies	OMIM:616549
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Cardiomyopathy, Familial Restrictive, 3	Reduced left ventricular ejection fraction, Abnormal ST segment, Myocardial sarcomeric disarray, ...	OMIM:612422
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Depression, Abnormal proportion of CD8-posit...	ORPHA:101096
Proximal Myopathy With Extrapyramidal Signs	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr...	ORPHA:401768
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Exercise intolerance, Exercise-induced myalgia, Ventricular hypertrophy, Cardiomyopathy, Episodic...	ORPHA:228305
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cardiac arrest, Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Myof...	OMIM:604377
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration	OMIM:611762
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Kimura Disease	Follicular hyperplasia, Eosinophilia, Lymphadenopathy	ORPHA:482
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage, Abnormal left ventricle morphology	OMIM:300845
Cardiomyopathy, Familial Hypertrophic, 2	Ventricular septal hypertrophy, Reduced left ventricular ejection fraction, Angina pectoris, Atri...	OMIM:115195
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abs...	OMIM:150550
Sickle Cell Anemia	Ischemic stroke, Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular vol...	ORPHA:232
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Niemann-Pick Disease, Type A	Irritability, Sea-blue histiocytosis, Lymphadenopathy, Bone-marrow foam cells, Athetosis, Splenom...	OMIM:257200
Mast Cell Sarcoma	Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Mastocytosis	ORPHA:66661
Polyarteritis Nodosa	Abdominal pain, Hypertension, Cardiomyopathy, Pericarditis, Arthralgia, Raynaud phenomenon, Weigh...	ORPHA:767
Sanjad-Sakati Syndrome	Hypocalcemia, Hyperphosphatemia	ORPHA:2323
Dominant Beta-Thalassemia	Irritability, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Extramedullary hema...	ORPHA:231226
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Congestive heart failure, Atrial fibrillation, Right bundle bran...	ORPHA:1880
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cardiac arrest, Hypotension, Bradycardia	ORPHA:70587
Linear Verrucous Nevus Syndrome	Retinopathy, Aplasia/Hypoplasia of the fovea, Hypophosphatemia	ORPHA:2611
Hyperparathyroidism, Neonatal Severe	Polydipsia, Calcinosis, Anemia, Hypercalcemia, Hypophosphatemia, Splenomegaly	OMIM:239200
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Abnormality of skeletal muscle fiber size, Nemaline bodies, Joint contracture, Skeletal muscle at...	OMIM:620278
Congenital Disorder Of Glycosylation, Type Im	Failure to thrive, Dilated cardiomyopathy, Bradycardia	OMIM:610768
Griscelli Syndrome Type 2	Lymphadenopathy, Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Neutropenia	ORPHA:79477
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Increased variability in muscle fiber diameter	OMIM:617915
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Neonatal hypoglycemia, Bradycardia, ST segment elevation, Cardiomyopath...	OMIM:261740
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Extramedullary hematopoiesis, Anemia of inadequate production, L...	ORPHA:231222
Kallmann Syndrome-Heart Disease Syndrome	Pulmonary insufficiency, Congestive heart failure, Aortic regurgitation, Heart murmur, Double out...	ORPHA:2326
Illum Syndrome	Calcinosis, Bradycardia	OMIM:208155
Fish-Eye Disease	Angina pectoris, Lymphadenopathy, Decreased HDL cholesterol concentration, Splenomegaly	ORPHA:79292
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly...	OMIM:115000
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Congestive heart failure, Increased total bilirubin, Splenomegaly, T...	ORPHA:90037
Acrodysostosis 1 With Or Without Hormone Resistance	Optic atrophy, Hyperphosphatemia	OMIM:101800
Congenital Myopathy 22A, Classic	Bradycardia, Ragged-red muscle fibers, Scapular winging, Congenital finger flexion contractures, ...	OMIM:620351
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Irritability, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hypo...	OMIM:603553
Gm1-Gangliosidosis, Type I	Abnormal heart valve morphology, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic c...	OMIM:230500
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased body weight, Failure to thrive, Flexion contracture, Skeletal muscle atrophy, Dilated c...	ORPHA:89842
Pearson Syndrome	Anemia, Hypokalemia, Pancytopenia, Hypocalcemia, Cardiomyopathy, Hyperalaninemia, Reticulocytosis...	ORPHA:699
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Beta-Thalassemia Major	Anisopoikilocytosis, Irritability, Abnormality of iron homeostasis, Hypochromic microcytic anemia...	ORPHA:231214
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, Bone marrow hy...	OMIM:301078
Myopathy With Lactic Acidosis, Hereditary	Exercise intolerance, Increased variability in muscle fiber diameter, Rhabdomyolysis, Skeletal mu...	OMIM:255125
Cockayne Syndrome Type 1	Optic atrophy, Anemia, Hypertension, Tremor, Increased blood urea nitrogen, Pigmentary retinopathy	ORPHA:90321
Fanconi Renotubular Syndrome 5	Glycosuria, Hypertension, Hypophosphatemia, Hypophosphatemic rickets	OMIM:618913
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Bradycardia	ORPHA:95716
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Increased variability in muscle fiber diameter, Myopathy	OMIM:125250
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Fatty replacement o...	ORPHA:397744
Hypocalcemic Vitamin D-Dependent Rickets	Irritability, Hypocalcemic seizures, Hypocalcemia, Cardiomyopathy, Leukocytosis, Hypophosphatemia...	ORPHA:289157
Hemochromatosis, Type 4	Arthralgia, Cardiomyopathy, Fatigue, Arrhythmia	OMIM:606069
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Granulomatous Slack Skin	Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Combined Oxidative Phosphorylation Defect Type 39	Neonatal hypoglycemia, Leg dystonia, Optic disc pallor, Bradycardia	ORPHA:565624
Mitochondrial Dna-Associated Leigh Syndrome	Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Failure to thrive, Cardiac conduction abno...	ORPHA:255210
Pleural Mesothelioma	Lymphadenopathy, Abnormal cardiovascular system physiology, Dysphagia	ORPHA:50251
Cinca Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Abn...	ORPHA:1451
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Hyperlysinemia, Type I	Anemia, Hyperactivity, Optic nerve hypoplasia, Hyperlysinemia, Hypoornithinemia	OMIM:238700
Naxos Disease	Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ...	ORPHA:34217
Acute Promyelocytic Leukemia	Anorexia, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Addictive alcohol use, Epistaxis, ...	ORPHA:520
Rheumatic Fever	Myocarditis, Abnormal aortic valve morphology, Abnormal heart valve morphology, Abdominal pain, F...	ORPHA:3099
Macrophage Activation Syndrome	Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopat...	ORPHA:158061
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Thrombocyto...	ORPHA:100026
Autosomal Dominant Hypophosphatemic Rickets	Tooth abscess, Hypophosphatemia, Iron deficiency anemia, Hypocalcemia	ORPHA:89937
Pseudo-Torch Syndrome 2	Thrombocytopenia, Cerebral hemorrhage, Bradycardia	OMIM:617397
Mitochondrial Trifunctional Protein Deficiency	Exercise intolerance, Congestive heart failure, Cardiomyopathy, Tricuspid regurgitation, Skeletal...	ORPHA:746
Primary Triglyceride Deposit Cardiomyovasculopathy	Precordial pain, Angina pectoris, Low-output congestive heart failure, Rimmed vacuoles, Cardiomyo...	ORPHA:565612
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Dilated cardiomyopathy, Left ventricular hypertrophy	OMIM:618321
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Hypomagnesemia 3, Renal	Polydipsia, Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentratio...	OMIM:248250
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Eleva...	OMIM:619750
Erythrocytosis, Familial, 1	Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo...	OMIM:133100
Combined Oxidative Phosphorylation Deficiency 33	Exercise intolerance, Cardiomyopathy, Cardiac arrest, Fatigue, Left ventricular hypertrophy, Card...	OMIM:617713
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Antenatal intracerebral hemorrhage, Elbow flexion contracture, Arrhythmia, Knee flexion contractu...	OMIM:608836
Familial Cutaneous Collagenoma	Angina pectoris, Congestive heart failure, Atrial septal defect, Cardiomyopathy	ORPHA:53296
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic...	OMIM:619375
Refsum Disease, Classic	Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Arrhythmia, Cardiomegaly	OMIM:266500
Relapsing Fever	Anemia, Elevated circulating C-reactive protein concentration, Hypotension, Leukocytosis, Increas...	ORPHA:91547
Rh Deficiency Syndrome	Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocytosis, Ret...	ORPHA:71275
Propionic Acidemia	Cardiomyopathy, Arrhythmia	ORPHA:35
Legionnaires Disease	Myocarditis, Anorexia, Lymphadenopathy, Lymphopenia, Hypotension, Pericarditis, Bone marrow hypoc...	ORPHA:549
Igg4-Related Retroperitoneal Fibrosis	Anorexia, Large vessel vasculitis, Normocytic anemia, Elevated circulating C-reactive protein con...	ORPHA:49041
Tropical Endomyocardial Fibrosis	Left atrial enlargement, P pulmonale, Abnormal ST segment, Cachexia, Prolonged QRS complex, Cardi...	ORPHA:75565
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Increased variability in muscle fiber diameter, Failure to thrive in infancy, Flexion contracture	OMIM:619026
Interatrial Communication	Atrial septal defect, Congestive heart failure, Atrial flutter, Sinus venosus atrial septal defec...	ORPHA:1478
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Tachycardia, Chronic lymphatic le...	ORPHA:98849
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Failure to thrive, Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy	ORPHA:71212
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Splenomegaly, Lymphopenia, Abnor...	OMIM:602450
Myoclonus, Intractable, Neonatal	Increased variability in muscle fiber diameter	OMIM:617235
Sweet Syndrome	Small vessel vasculitis, Myositis, Pain, Arthralgia, Dilated cardiomyopathy, Myalgia	ORPHA:3243
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Bradycardia, Depression, Jaw claudication, Syncope	ORPHA:221098
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Pediatric-Onset Graves Disease	Polydipsia, Congestive heart failure, Irritability, Atrial fibrillation, Hyperactivity, Neutropen...	ORPHA:525731
Arterial Tortuosity Syndrome	Myocarditis, Congestive heart failure, Hypertension, Cardiac arrest, Fatigue, Hypertrophic cardio...	ORPHA:3342
Carney Triad	Anorexia, Gastrointestinal hemorrhage, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Hype...	ORPHA:139411
Stiff-Person Syndrome	Anemia, Depression, Hypertension, Exaggerated startle response, Opisthotonus, Tachycardia, Diabet...	OMIM:184850
Mitochondrial Complex I Deficiency, Nuclear Type 29	Exercise intolerance, Exercise-induced myalgia, Fatigue, Hypertrophic cardiomyopathy, Failure to ...	OMIM:618250
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Cardiomyopathy, Failure to thrive, Flexion contracture, Weakness of facial musculature, Myopathy	OMIM:201470
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Neonatal hypoglycemia, Hyperinsulinemia, Agitation, Hypophosphatemic rickets, Hypoketotic hypogly...	ORPHA:263455
Snakebite Envenomation	Hypotension, Cerebral ischemia, Neuromuscular dysphagia, Hyponatremia, Cardiogenic shock, Epistax...	ORPHA:449285
Acquired Methemoglobinemia	Tachycardia, Arrhythmia, Syncope, Palpitations, Methemoglobinemia	ORPHA:464453
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Familial Isolated Restrictive Cardiomyopathy	Left atrial enlargement, Atrial fibrillation, Supraventricular arrhythmia, Hypertrophic cardiomyo...	ORPHA:75249
Myopathy With Extrapyramidal Signs	Optic atrophy, Hypervalinemia, Hyperactivity, Tremor, Leukocytosis, Hyperlysinemia, Elevated circ...	OMIM:615673
Idiopathic Hypereosinophilic Syndrome	Pulmonary embolism, Congestive heart failure, Myocardial eosinophilic infiltration, Abdominal pai...	ORPHA:3260
Pituitary Adenoma 1, Multiple Types	Hypertension, Cardiomyopathy, Left ventricular hypertrophy	OMIM:102200
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi...	OMIM:304790
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Congestive heart failure, Cardiomyopathy, Fatigue, Limb muscle weakness, Cardiomegaly, Myalgia	OMIM:619259
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Tricuspid regurgitation, Right ventricular dilatation, Wolff-Parkinson-White syndrome, Hypertroph...	OMIM:619705
Acute Monoblastic/Monocytic Leukemia	Anorexia, Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis...	ORPHA:514
Arthrogryposis Multiplex Congenita 6	Increased variability in muscle fiber diameter, Arthrogryposis multiplex congenita, Nemaline bodies	OMIM:619334
Heart Block, Congenital	Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri...	OMIM:234700
Omenn Syndrome	Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Severe B l...	OMIM:603554
Isolated Thyroid-Stimulating Hormone Deficiency	Bradycardia, Depression, Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubi...	ORPHA:90674
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Bradycardia	OMIM:608800
Chediak-Higashi Syndrome	Neutropenia, Hemophagocytosis, Anemia, Lymphadenopathy, Spontaneous, recurrent epistaxis, Tremor,...	OMIM:214500
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo...	ORPHA:911
Follicular Lymphoma	Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:545
Sheehan Syndrome	Orthostatic hypotension, Normochromic anemia, Bradycardia, Hyponatremia, Palpitations, Hypoglycemia	ORPHA:91355
Thyrotoxic Periodic Paralysis	Hyperkalemia, Prolonged QT interval, Transient hypophosphatemia, Tremor, Episodic hypokalemia, Ve...	ORPHA:79102
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Optic atrophy, Agitation, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concen...	OMIM:615688
Combined Oxidative Phosphorylation Deficiency 3	Patent foramen ovale, Rhabdomyolysis, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy	OMIM:610505
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Glycosuria, Hypophosphatemia, Hypoglycemia, Diabetes mellitus	OMIM:616026
Roifman Syndrome	Lymphadenopathy, Retinal dystrophy, Noncompaction cardiomyopathy, Hepatosplenomegaly, Eosinophilia	ORPHA:353298
3-Hydroxy-3-Methylglutaric Aciduria	Cardiac arrest, Hypotension, Fatigue, Weight loss, Dilated cardiomyopathy	ORPHA:20
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
Mitochondrial Complex I Deficiency, Nuclear Type 37	Opisthotonus, Pulmonary arterial hypertension, Bradycardia	OMIM:619272
Porphyria Due To Ala Dehydratase Deficiency	Agitation, Increased erythrocyte protoporphyrin concentration, Abnormal fear-induced behavior, De...	ORPHA:100924
Primary Familial Polycythemia	Polycythemia, Epistaxis, Abnormal hemoglobin	ORPHA:90042
Roifman Syndrome	Lymphadenopathy, Retinal dystrophy, Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia	OMIM:616651
Vici Syndrome	Congestive heart failure, Cardiomyopathy, Failure to thrive, Left ventricular hypertrophy, Atrial...	OMIM:242840
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Dilated cardiomyopathy	OMIM:251110
Adult-Onset Still Disease	Myocarditis, Abnormal circulating lipid concentration, Increased circulating ferritin concentrati...	ORPHA:829
Indolent Systemic Mastocytosis	Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytosis, Splenomegaly, Abnormal m...	ORPHA:98848
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Thromb...	OMIM:618048
Immunodeficiency 7	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neutropenia	OMIM:615387
Immunodeficiency, Common Variable, 1	Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutro...	OMIM:607594
Dyskeratosis Congenita, Autosomal Dominant 2	Failure to thrive, Dilated cardiomyopathy	OMIM:613989
Laubry-Pezzi Syndrome	Elevated pulmonary artery pressure, Chest pain, Perimembranous ventricular septal defect, Congest...	ORPHA:99094
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari...	OMIM:618849
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Immunodeficiency, Common Variable, 2	Follicular hyperplasia, Lymphadenopathy, Splenomegaly, Abnormal T cell count	OMIM:240500
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:300448
Boutonneuse Fever	Lymphadenopathy, Vasculitis, Thrombocytopenia, Leukopenia, Cervical lymphadenopathy	ORPHA:83313
Castleman Disease	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated circulating C-reactive protein con...	ORPHA:160
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul...	OMIM:612949
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Amyotrophic Lateral Sclerosis 21	Distal lower limb muscle weakness, Rimmed vacuoles, Hand muscle weakness, Increased variability i...	OMIM:606070
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:615122
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Exercise intolerance, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness,...	ORPHA:363623
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly	OMIM:618495
Typical Nemaline Myopathy	Facial diplegia, Facial palsy, Nemaline bodies, Arthrogryposis multiplex congenita, Limb-girdle m...	ORPHA:171436
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concen...	OMIM:610377
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Cardiomyopathy, Arrhythmia	ORPHA:3222
3-Methylglutaconic Aciduria, Type Viii	Neonatal hypoglycemia, Bradycardia, Tremor, Dystonia, Dysphagia, Neutropenia	OMIM:617248
Waldenström Macroglobulinemia	Anorexia, Congestive heart failure, Gastrointestinal hemorrhage, Normocytic anemia, Lymphadenopat...	ORPHA:33226
Neutral Lipid Storage Myopathy	Congestive heart failure, Generalized limb muscle atrophy, Rimmed vacuoles, Cardiomyopathy, Hand ...	ORPHA:98908
Griscelli Syndrome	Abnormal circulating lipid concentration, Lymphadenopathy, Bone marrow hypocellularity, Thrombocy...	ORPHA:381
Combined Oxidative Phosphorylation Deficiency 55	Hypophosphatemic rickets, Anemia, Elevated circulating creatine kinase concentration, Thrombocyto...	OMIM:619743
Caspase 8 Deficiency	Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly	OMIM:607271
Classic Hodgkin Lymphoma	Anorexia, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:391
Symptomatic Form Of Hfe-Related Hemochromatosis	Congestive heart failure, Abdominal pain, Elevated jugular venous pressure, Cardiomyopathy, Fatig...	ORPHA:465508
Congenitally Corrected Transposition Of The Great Arteries	Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic...	ORPHA:216694
Chronic Thromboembolic Pulmonary Hypertension	Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Pul...	ORPHA:70591
Optic Atrophy 11	Optic atrophy, Hyperactivity, Optic nerve hypoplasia, Athetosis, Mildly elevated creatine kinase,...	OMIM:617302
Fanconi-Bickel Syndrome	Increased serum bile acid concentration, Fasting hypoglycemia, Hypokalemia, Hypouricemia, Hyperbi...	OMIM:227810
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly	ORPHA:2584
Hereditary Amyloidosis With Primary Renal Involvement	Congestive heart failure, Gastrointestinal hemorrhage, Decreased HDL cholesterol concentration, A...	ORPHA:85450
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr...	ORPHA:276
Tafro Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Thr...	ORPHA:457077
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Ventricular septal defect, Mitral regurgitation	ORPHA:261250
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Lymphadenopathy, Optic neuritis, Neutropenia in presence of anti-neu...	ORPHA:436159
Cystinosis, Nephropathic	Polydipsia, Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circula...	OMIM:219800
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Fasting hypoglycemia, Impaired glucose tolerance, Glycosuria, Hypophosphate...	ORPHA:2088
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Granuloma, Hepatosplenom...	OMIM:618935
Yellow Fever	Hematemesis, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, Hyperbiliru...	ORPHA:99829
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Bradycardia	ORPHA:226313
Juvenile Dermatomyositis	Calcinosis, Gastrointestinal hemorrhage, Myositis, Abdominal pain, Vasculitis, Angina pectoris, C...	ORPHA:93672
Dent Disease 2	Hypophosphatemia, Elevated circulating creatine kinase concentration	OMIM:300555
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Increased proportion of CD4-positive T cells, Elevated circulating C-reactive pr...	OMIM:617099
Kearns-Sayre Syndrome	Ragged-red muscle fibers, Arrhythmia, Cardiomyopathy, Third degree atrioventricular block	OMIM:530000
Autosomal Recessive Malignant Osteopetrosis	Anemia, Lymphadenopathy, Optic nerve compression, Hypocalcemia, Tremor, Pulmonary arterial hypert...	ORPHA:667
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Glycosuria, Hypophosphatemia	OMIM:308990
American Trypanosomiasis	Myocarditis, Congestive heart failure, Lymphadenopathy, Cardiomyopathy, Splenomegaly, Arrhythmia	ORPHA:3386
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Leptospirosis	Anorexia, Hyperproteinemia, Lymphadenopathy, Optic neuritis, Chorioretinitis, Macular cotton wool...	ORPHA:509
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Vasculitis...	OMIM:617718
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphopenia, Tooth abscess, Thrombocyto...	ORPHA:2686
Glycogen Storage Disease Vii	Exercise intolerance, Increased muscle glycogen content, Exercise-induced myalgia, Increased vari...	OMIM:232800
Juvenile Nephropathic Cystinosis	Polydipsia, Hypokalemia, Hypocalcemia, Hypouricemia, Hypovolemia, Glycosuria, Hyponatremia, Hypop...	ORPHA:411634
Hypophosphatemic Rickets, X-Linked Dominant	Abnormal circulating calcium concentration, Hypophosphatemic rickets, Hepatosplenomegaly, Hypopho...	OMIM:307800
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Chronic noninfectious lymphadenopa...	ORPHA:100093
Kikuchi-Fujimoto Disease	Myocarditis, Anorexia, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circulat...	ORPHA:50918
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Irritability, Reduced blood urea nitrogen, Elevated systolic blood pressure, Decreased circulatin...	OMIM:300539
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Systemic-Onset Juvenile Idiopathic Arthritis	Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopathy	ORPHA:85414
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Short Stature, Microcephaly, And Endocrine Dysfunction	Dilated cardiomyopathy, Truncal obesity	OMIM:616541
Immunodeficiency 10	Autoimmune hemolytic anemia, Lymphadenopathy, Abnormal lymphocyte count, Splenomegaly, Hypoglycem...	OMIM:612783
Activated Pi3K-Delta Syndrome	B lymphocytopenia, Lymphadenopathy, Splenomegaly, Recurrent tonsillitis	ORPHA:397596
Ohdo Syndrome, Sbbys Variant	Dilated cardiomyopathy	OMIM:603736
Collagenoma, Familial Cutaneous	Congestive heart failure, Right ventricular cardiomyopathy, Atrial fibrillation, Vasculitis, Card...	OMIM:115250
Felty Syndrome	Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Pericarditis, Bone marrow hypocellularit...	ORPHA:47612
Steinert Myotonic Dystrophy	Left ventricular systolic dysfunction, Abnormality of masticatory muscle, Atrial fibrillation, Di...	ORPHA:273
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, ...	ORPHA:540
Bone Marrow Failure Syndrome 3	Aplastic anemia, Anemia, Acute myeloid leukemia, Retinal dystrophy, Retinal dysplasia, Hyperactiv...	OMIM:617052
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hypoglycemia, Increased circulating free fatty acid level, Hypophosphatemia	OMIM:605911
Cold Agglutinin Disease	Lymphadenopathy, Splenomegaly, Hemolytic anemia	ORPHA:56425
Lethal Congenital Contracture Syndrome 10	Torticollis, Ventricular septal defect, Increased variability in muscle fiber diameter, Cardiomeg...	OMIM:617022
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Tremor, Opisthotonus, Methemoglobinemia	OMIM:250800
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Irritability, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Congestive heart failure, Pericardial effusion, Arthralgia, Dilated cardiomyopathy, Sudden cardia...	ORPHA:73224
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:300946
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Abnormal T cell morphology, Hyperactivity, Decreased proportion of C...	ORPHA:760
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Bradycardia	ORPHA:90673
Abnormal Hair, Joint Laxity, And Developmental Delay	Impulsivity, Tricuspid regurgitation, Sinus bradycardia, Mitral regurgitation, Aggressive behavior	OMIM:261990
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Exercise intolerance, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Muscl...	OMIM:157640
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancyto...	ORPHA:167
Intellectual Developmental Disorder, Autosomal Dominant 45	Neonatal hypoglycemia, Hyperactivity, Recurrent hand flapping, Pulmonic stenosis, Motor stereotyp...	OMIM:617600
Immunodeficiency 32A	Granuloma, Lymphadenitis, Lymphadenopathy	OMIM:614893
Hereditary Methemoglobinemia	Athetosis, Limb dystonia, Methemoglobinemia	ORPHA:621
Microphthalmia With Linear Skin Defects Syndrome	Congenital diaphragmatic hernia, Tricuspid valve prolapse, Hypertrophic cardiomyopathy, Tricuspid...	ORPHA:2556
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hyper...	ORPHA:79126
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Persistence of hemoglobin F, Macrocytic anemia, Neutropenia	OMIM:620501
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Neuroendocrine Tumor Of The Colon	Anorexia, Melena, Hypotension, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Fa...	ORPHA:100080
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Pfapa Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:42642
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Hypertension, Retinal hemorrhage, Bradycardia	OMIM:614653
Omenn Syndrome	Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia	ORPHA:39041
Immunodeficiency 54	Lymphadenopathy, Reduced natural killer cell count, Splenomegaly	OMIM:609981
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons...	OMIM:606367
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Elevated circulating C-reactive protein concentration, Paratracheal lymphadenopathy, Leuk...	OMIM:615934
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Episodic hypertension, Hypercalcemia, Cerebral hemorrhage, Positive reg...	OMIM:171420
Infantile Nephropathic Cystinosis	Polydipsia, Hypokalemia, Glycosuria, Hypophosphatemia, Abnormal blood ion concentration, Pigmenta...	ORPHA:411629
Scrub Typhus	Myocarditis, Lymphadenopathy, Tremor, Hypotension, Splenomegaly	ORPHA:83317
Lig4 Syndrome	Acute leukemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Telangiectasia of the skin, Type II ...	ORPHA:99812
Citrullinemia Type Ii	Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Elevated plasma citr...	ORPHA:247585
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Neuroendocrine Tumor Of Stomach	Hematemesis, Anorexia, Melena, Iron deficiency anemia, Hypotension, Tricuspid regurgitation, Chro...	ORPHA:100075
Multiple Mitochondrial Dysfunctions Syndrome 7	Irritability, Agitation, Hyperactivity, Impulsivity, Exaggerated startle response, Hypernatremia,...	OMIM:620423
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Hypoten...	ORPHA:79456
Graft Versus Host Disease	Irritability, Lymphadenopathy, Hemophagocytosis, Hyperbilirubinemia, Hepatosplenomegaly, Tachycardia	ORPHA:39812
Neuroblastoma	Irritability, Anemia, Lymphadenopathy, Hypertension, Thrombocytopenia, Increased circulating ferr...	ORPHA:635
Lead Poisoning	Anorexia, Abnormal T cell morphology, Decreased HDL cholesterol concentration, Anemia, Depression...	ORPHA:330015
Sézary Syndrome	Lymphadenopathy, Tremor, Abnormal lymphocyte morphology, Splenomegaly	ORPHA:3162
Vitamin D-Dependent Rickets, Type 2A	Irritability, Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Fanconi Renotubular Syndrome 1	Glycosuria, Hypophosphatemia, Hypokalemia	OMIM:134600
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter, Failure to thrive	OMIM:615595
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance	OMIM:619173
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Anemia, Abnormal natural killer cell count, Pancytopenia, Portal hypertension, T lymphocytopenia,...	ORPHA:79124
Mucopolysaccharidosis, Type Iiic	Hyperactivity, Asymmetric septal hypertrophy, Splenomegaly, Dysphagia, Rod-cone dystrophy	OMIM:252930
46,Xy Sex Reversal 4	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:154230
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Mercury Poisoning	Anorexia, Hypokalemia, Tremor, Hypertension, Hypotension, Dystonia, Tachycardia	ORPHA:330021
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:241530
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Abnormal temper tantrums, Irritability, Hyperactivity, Depression, Hypertension, Recurrent hand f...	ORPHA:449291
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Muscular dystrophy, Reduced left ventricular ejection fraction, Myositis, Cardiomyopathy, Facial ...	ORPHA:258
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Encephalitis Lethargica	Tremor, Bradycardia	ORPHA:83600
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary arterial hypertension, Failure to thrive, Abnormal heart morphology, Dilated cardiomyop...	ORPHA:79282
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Immunodeficiency 87 And Autoimmunity	Atrial septal defect, Atrioventricular canal defect, Hypertension, Pulmonary arterial hypertensio...	OMIM:619573
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:617591
Neuroendocrine Tumor Of The Rectum	Anorexia, Melena, Hypotension, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Fa...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Anorexia, Melena, Hypotension, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Fa...	ORPHA:100082
Proximal Spinal Muscular Atrophy	Dysphagia, Bradycardia	ORPHA:70
Hec Syndrome	Arrhythmia, Cardiomyopathy, Endocardial fibroelastosis	ORPHA:2119
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-terminal telopeptide con...	ORPHA:157215
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Congestive heart failure, Chronic lymphatic leukemia, Splenomegaly, ...	ORPHA:90033
Kaposi Sarcoma	Generalized lymphadenopathy, Abnormality of the spleen, Abnormal retinal morphology	ORPHA:33276
Alstrom Syndrome	Congestive heart failure, Hypertension, Obesity, Dilated cardiomyopathy, Truncal obesity	OMIM:203800
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia	OMIM:616100
Desmoplastic Small Round Cell Tumor	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:83469
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Ragged-red muscle fibers, Patent foramen ovale, Hypertrophic cardiomyopathy, Increased variabilit...	ORPHA:17
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Mitral regurgitation, Macrocytic ...	OMIM:612561
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior, Exaggerated startle response, Dystonia, C...	ORPHA:309246
Hereditary Fructose Intolerance	Hypermagnesemia, Reactive hypoglycemia, Hypophosphatemia, Hyperuricemia	ORPHA:469
Congenital Syphilis	Optic atrophy, Myocarditis, Anemia, Lymphadenopathy, Chorioretinitis, Hepatosplenomegaly, Thrombo...	ORPHA:499009
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Lymphadenopathy, Lymphocytosis, Cardiac arrest, Eosinophilia	ORPHA:139402
Myasthenic Syndrome, Congenital, 19	Exercise intolerance, Increased variability in muscle fiber diameter, Facial palsy	OMIM:616720
Fanconi Renotubular Syndrome 2	Glycosuria, Hypophosphatemia	OMIM:613388
Bronchial Neuroendocrine Tumor	Anorexia, Hypotension, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Facial tel...	ORPHA:97287
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Rod...	OMIM:260920
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Self-injurious behavior, Recurrent hand flapping, Persistence of hemoglobin F	OMIM:617101
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n...	ORPHA:37042
Poems Syndrome	Lymphadenopathy, Pulmonary arterial hypertension, Papilledema, Diabetes mellitus, Polycythemia, S...	ORPHA:2905
Hydroxykynureninuria	Tachycardia, Abnormal circulating tryptophan concentration, Hypotension, Motor stereotypy	ORPHA:79155
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Lymphadenopathy, Tricuspid stenosis, Hypotension, Pulmonic stenosis, Righ...	ORPHA:100078
Hypocalciuric Hypercalcemia, Familial, Type Iii	Depression, Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Mixed Connective Tissue Disease	Myocarditis, Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Lymphadenopathy, Pulmonary...	ORPHA:809
Combined Oxidative Phosphorylation Deficiency 39	Type I diabetes mellitus, Sinus bradycardia, Dystonia	OMIM:618397
H Syndrome	Hypertriglyceridemia, Abnormal cardiovascular system physiology, Lymphadenopathy, Facial telangie...	ORPHA:168569
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Neonatal hypoglycemia, Anemia, Lymphadenopathy, Accessory spleen, Splenomeg...	OMIM:619418
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Increased muscle glycogen content, Weakness of facial musculature, EMG: myopathic abnormalities, ...	ORPHA:502423
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Transient hyperphenylalaninemia, Hyperactivity, Depression, Tremor, Hyperpheny...	OMIM:612716
Brucellosis	Myocarditis, Anorexia, Lung abscess, Liver abscess, Anemia, Lymphadenopathy, Arteritis, Elevated ...	ORPHA:1304
Oculocerebrorenal Syndrome Of Lowe	Anemia, Hypokalemia, Depression, Compulsive behaviors, Hyponatremia, Thrombocytopenia, Hypophosph...	ORPHA:534
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Dysplastic pulmonary valve, Right ventricular dilatation, Tricuspid...	OMIM:612863
Choreoacanthocytosis	Distal amyotrophy, Muscle fiber atrophy, Peroneal muscle atrophy, Weight loss, Dilated cardiomyop...	ORPHA:2388
1P36 Deletion Syndrome	Abnormal heart valve morphology, Camptodactyly of finger, Failure to thrive, Obesity, Tetralogy o...	ORPHA:1606
Q Fever	Myocarditis, Anorexia, Anemia, Lymphadenopathy, Vasculitis, Granuloma, Pericarditis, Hepatospleno...	ORPHA:781
Argininemia	Anorexia, Irritability, Reduced erythrocyte arginase activity, Hyperactivity, Hyperargininemia, H...	OMIM:207800
Systemic Lupus Erythematosus	Anorexia, Lymphadenopathy, Depression, Hypertension, Retinopathy, Leukopenia, Raynaud phenomenon,...	ORPHA:536
Native American Myopathy	Abnormality of skeletal muscle fiber size, Camptodactyly, Congenital contracture, Muscle fiber at...	ORPHA:168572
Combined Immunodeficiency Due To Crac Channel Dysfunction	Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Hypokalemia, Hypomagnesemia, Self-biting	OMIM:618314
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased B cell count, Absent peripheral lymph nodes in presence of infection, Increased T cell ...	ORPHA:98813
Alport Syndrome 3A, Autosomal Dominant	Hypertension, Hypophosphatemia, Azotemia	OMIM:104200
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Lymphopenia, Thrombocytopenia, Leukopenia, Raynaud phenomenon, Microangiopathic ...	ORPHA:93552
Myopathy, Mitochondrial, And Ataxia	Increased variability in muscle fiber diameter, Distal amyotrophy, Myalgia	OMIM:617675
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Lethal Congenital Contracture Syndrome 9	Abnormality of the diaphragm, Wrist flexion contracture, Congenital contracture, Arthrogryposis m...	OMIM:616503
Scorpion Envenomation	Myocarditis, Congestive heart failure, Increased circulating NT-proBNP concentration, Hypokalemia...	ORPHA:466677
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Multiple Myeloma	Anemia, Lymphadenopathy, Hypercalcemia, Splenomegaly, Hyperproteinemia, Elevated circulating crea...	ORPHA:29073
Bohring-Opitz Syndrome	Optic atrophy, Retinal atrophy, Bradycardia	ORPHA:97297
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat...	ORPHA:3337
Hyperparathyroidism-Jaw Tumor Syndrome	Polydipsia, Shortened QT interval, Hypophosphatemia, Dysphagia, Hypercalcemia	ORPHA:99880
Fructose Intolerance, Hereditary	Bicarbonaturia, Gastrointestinal hemorrhage, Hyperuricemia, Hyperbilirubinemia, Glycosuria, Hypop...	OMIM:229600
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic rickets, Hypophosphatemia	OMIM:300554
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly	OMIM:619183
Immunodeficiency With Hyper-Igm, Type 1	Enlarged tonsils, Thrombocytopenia, Splenomegaly, Absence of lymph node germinal center, Hemolyti...	OMIM:308230
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia	OMIM:126320
Mccune-Albright Syndrome	Bone marrow hypocellularity, Hypophosphatemia, Pancytopenia	ORPHA:562
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Obsessive-compulsive trait, Hyperactivity, Depression, Tremor, Blepharospasm, Phon...	OMIM:234200
Parathyroid Carcinoma	Polydipsia, Shortened QT interval, Hypophosphatemia, Dysphagia, Hypercalcemia	ORPHA:143
Thyroid Lymphoma	Lymphadenopathy, Dysphagia	ORPHA:97285
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Lymphocytosis, Vasculitis, Neutropenia in presence ...	ORPHA:3261
Common Variable Immunodeficiency	Lymphadenopathy, Vasculitis, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia, Hemolytic an...	ORPHA:1572
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Dent Disease 1	Glycosuria, Hypophosphatemia	OMIM:300009
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Optic nerve hypoplasia, Hypoglycemia, Bradycardia	ORPHA:226307
Papa Syndrome	Type I diabetes mellitus, Lymphadenopathy	ORPHA:69126
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal blood ion concentration, Dilated cardiomyopathy, Anemia, Bradycardia	ORPHA:79404
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Mucopolysaccharidosis Type 2	Optic atrophy, Abnormal temper tantrums, Hyperactivity, Hypertension, Cardiomyopathy, Impulsivity...	ORPHA:580
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Coombs-positive hemoly...	ORPHA:83471
Nephroblastoma	Hypertension, Lymphadenopathy	ORPHA:654
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Hypokalemia, Emotional lability, Hypertension, Impaired glucose t...	OMIM:219090
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic pain, Dilated cardiomyopathy, Flexion contracture, Foot joint contracture	ORPHA:79408
Pheochromocytoma	Congestive heart failure, Episodic hypertension, Hypercalcemia, Cerebral hemorrhage, Positive reg...	OMIM:171300
Aicardi-Goutieres Syndrome 7	Hematemesis, Irritability, Increased circulating ferritin concentration, Anemia, Pancytopenia, Va...	OMIM:615846
Farber Disease	Anemia, Lymphadenopathy, Macular degeneration, Thrombocytopenia, Hepatosplenomegaly, Cherry red s...	ORPHA:333
Erythrocytosis, Familial, 7	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617981
Erythrocytosis, Familial, 6	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617980
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Von Hippel-Lindau Disease	Myocarditis, Limb pain, Distal lower limb muscle weakness, Abdominal pain, Hypertension, Cardiomy...	ORPHA:892
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Optic atrophy, Anemia, Depression, Abnormal hemoglobin, Self-injurious behavior	ORPHA:847
Tangier Disease	Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, T...	ORPHA:31150
Anaplastic Thyroid Carcinoma	Lymphadenopathy, Dysphagia	ORPHA:142
Histiocytoid Cardiomyopathy	Optic atrophy, Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial f...	ORPHA:137675
Agammaglobulinemia, X-Linked	Anemia, B lymphocytopenia, T lymphocytopenia, Lymph node hypoplasia, Neutropenia	OMIM:300755
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Muscular dystrophy, Increased variability in muscle fiber diameter	OMIM:616538
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin concentration, Hyperbilirubinemia, Bradycardia	OMIM:218700
Behçet Disease	Anorexia, Irritability, Gastrointestinal hemorrhage, Aortic regurgitation, Lymphadenopathy, Optic...	ORPHA:117
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Chromosome 1P36 Deletion Syndrome, Distal	Atrial septal defect, Noncompaction cardiomyopathy, Patent foramen ovale, Ebstein anomaly of the ...	OMIM:607872
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Muscular dystrophy, Skeletal muscle hypertrophy, Congenital contracture, Increased variability in...	OMIM:613150
Immunodeficiency 82 With Systemic Inflammation	Anorexia, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymph...	OMIM:619381
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impaired oxidative b...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impaired oxidative b...	OMIM:233710
Hypocomplementemic Urticarial Vasculitis	Small vessel vasculitis, Lymphadenopathy, Splenomegaly	ORPHA:36412
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Hypercalcemia, Mediastinal lymphadenopathy, Chronic noninfectious lymphad...	ORPHA:97289
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impaired oxidative b...	OMIM:233690
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy, Intestinal bleeding	ORPHA:424019
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:331235
Familial Mediterranean Fever	Lymphadenopathy, Depression, Vasculitis, Leukocytosis, Pericarditis, Splenomegaly, Arrhythmia, My...	ORPHA:342
Familial Pancreatic Carcinoma	Anorexia, Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly, Diabetes mellitus	ORPHA:1333
Hyperthyroidism, Nonautoimmune	Tachycardia, Increased circulating thyroglobulin concentration, Hyperactivity	OMIM:609152
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Fibrous Dysplasia Of Bone	Diabetes mellitus, Hypercalcemia, Hypophosphatemia	ORPHA:249
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F	OMIM:619769
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Chronic noninfectious lymphadenopathy, Facial telangiectasia, Right ventricular failure...	ORPHA:100085
Medullary Thyroid Carcinoma	Lymphadenopathy, Dysphagia	ORPHA:1332
Sarcoidosis	Heart block, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Abnormal cardiac ventricula...	ORPHA:797
Histiocytosis-Lymphadenopathy Plus Syndrome	Lymphadenopathy, Pulmonary arterial hypertension, Pulmonic stenosis, Facial telangiectasia, Hepat...	OMIM:602782
Kawasaki Disease	Myocarditis, Congestive heart failure, Irritability, Elevated circulating C-reactive protein conc...	ORPHA:2331
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Blau Syndrome	Large vessel vasculitis, Anemia, Lymphadenopathy, Hypertension, Abnormal optic nerve morphology, ...	ORPHA:90340
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, T lymphocytopenia, Raynaud phenomenon, Lymphopenia, Autoimmune thrombocytopenia,...	OMIM:607944
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Pulmonary Capillary Hemangiomatosis	Elevated pulmonary artery pressure, Mediastinal lymphadenopathy, Lymphadenopathy, Right ventricul...	ORPHA:199241
Hyperimmunoglobulinemia D With Periodic Fever	Vasculitis, Gastrointestinal hemorrhage, Lymphadenopathy	ORPHA:343
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Mediastinal lymphadenopathy, Hilar lymph node enlargement, Leukocytosis, Tricuspid regurgitation,...	OMIM:620233
Glycogen Storage Disease Xii	Muscle fiber splitting, Increased variability in muscle fiber diameter, Myopathy	OMIM:611881
Goodpasture Syndrome	Increased blood urea nitrogen, Pulmonary hemorrhage, Anemia	OMIM:233450
Immunodeficiency 31C	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Lymphade...	OMIM:614162
Primary Sjögren Syndrome	Normocytic anemia, Lymphadenopathy, Normochromic anemia, Arteritis, Depression, Optic neuritis, V...	ORPHA:289390
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Vasculitis, Leukocytosis,...	ORPHA:32960
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Granuloma, Splenomegaly, Impaired ...	OMIM:306400
Alg9-Cdg	Atrial septal defect, Torticollis, Abnormal left ventricular outflow tract morphology, Hypoplasia...	ORPHA:79328
Shwachman-Diamond Syndrome 1	Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut...	OMIM:260400
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Raine Syndrome	Hypophosphatemia	OMIM:259775
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Coccidioidomycosis	Mediastinal lymphadenopathy, Lymphadenopathy, Vasculitis, Cerebral ischemia, Granuloma, Pericardi...	ORPHA:228123
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
African Trypanosomiasis	Myocarditis, Congestive heart failure, Irritability, Aggressive behavior, Lymphadenopathy, Optic ...	ORPHA:3385
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Abnormal left ventricular function, Abnormal tendon morphology, Angina pect...	ORPHA:391665
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Congestive heart failure, Decreased HDL cholesterol concentration, Lymphade...	OMIM:256040
Diamond-Blackfan Anemia 1	Congestive heart failure, Elevated red cell adenosine deaminase activity, Macrocytic anemia, Incr...	OMIM:105650
Sarcoidosis, Susceptibility To, 1	Anorexia, Mediastinal lymphadenopathy, Pancytopenia, Chorioretinitis, Pulmonary arterial hyperten...	OMIM:181000
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	HbH hemoglobin, Hypochromic microcytic anemia, Motor stereotypy, Reduced alpha/beta synthesis ratio	OMIM:301040
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia	ORPHA:99867
Dent Disease	Glycosuria, Renal hypophosphatemia, Elevated circulating creatine kinase concentration	ORPHA:1652
Hennekam Syndrome	Lymphadenopathy, Hypocalcemia, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, Lymphopenia	ORPHA:2136
Neuroendocrine Neoplasm Of Appendix	Anorexia, Tricuspid stenosis, Hypotension, Chronic noninfectious lymphadenopathy, Heart murmur, P...	ORPHA:100079
Cushing Syndrome Due To Ectopic Acth Secretion	Anorexia, Abnormal lymph node morphology, Depression, Emotional lability, Hypertension, Lymphopen...	ORPHA:99889
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, Tricuspid regurgitation, Pulmonary arterial hypertension, Bradycardia	OMIM:614437
Lymphatic Filariasis	Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Hypereosin...	ORPHA:2035
Johanson-Blizzard Syndrome	Situs inversus totalis, Atrial septal defect, Portal hypertension, Failure to thrive, Dilated car...	OMIM:243800
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
Lymphangioleiomyomatosis	Optic atrophy, Retinal hamartoma, Gastrointestinal hemorrhage, Lymphadenopathy, Abnormality of th...	ORPHA:538
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Sinus bradycardia, Dysphagia	OMIM:619482
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Autosomal Recessive Hypophosphatemic Rickets	Tooth abscess, Renal hypophosphatemia, Hypophosphatemic rickets	ORPHA:289176
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
Igg4-Related Kidney Disease	Lymphadenopathy, Arteritis, Elevated circulating C-reactive protein concentration, Decreased reti...	ORPHA:449395
Riddle Syndrome	Emotional lability, Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentra...	ORPHA:420741
Telangiectasia, Hereditary Hemorrhagic, Type 2	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na...	OMIM:600376
X-Linked Hypophosphatemia	Tooth abscess, Hypophosphatemia	ORPHA:89936
Plague	Hematemesis, Anorexia, Depression, Hypotension, Lymphadenitis, Splenomegaly, Arrhythmia, Tachycar...	ORPHA:707
Igg4-Related Dacryoadenitis And Sialadenitis	Lymphadenopathy, Thrombocytopenia, Optic nerve compression, Abnormal optic nerve morphology	ORPHA:79078
Igg4-Related Ophthalmic Disease	Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphadenopathy, Abnormal op...	ORPHA:449563
Klatskin Tumor	Lymphadenopathy	ORPHA:99978
Histidinemia	Hyperactivity, Hyperhistidinemia	ORPHA:2157
Alkaptonuria	Hypertension, Aortic valve stenosis, Mitral stenosis, Hemolytic anemia, Mitral regurgitation, Myo...	ORPHA:56
Chikungunya	Lymphadenopathy, Depression, Epistaxis, Raynaud phenomenon, Cervical lymphadenopathy	ORPHA:324625
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Gallbladder Neuroendocrine Tumor	Anorexia, Chronic noninfectious lymphadenopathy	ORPHA:100086
Multiple Endocrine Neoplasia Type 2	Hypertension associated with pheochromocytoma, Hypertensive crisis, Hypercalcemia, Palpitations, ...	ORPHA:653
Alström Syndrome	Congestive heart failure, Urinary incontinence, Truncal obesity, Hypertension, Epigastric pain, P...	ORPHA:64
Viss Syndrome	Atrial septal defect, Epidural hemorrhage, Patent foramen ovale, Contracture of the proximal inte...	OMIM:619472
Igg4-Related Submandibular Gland Disease	Eosinophilia, Lymphadenopathy	ORPHA:449432
Adenocarcinoma Of The Anal Canal	Lymphadenopathy, Intestinal bleeding	ORPHA:424016
Holt-Oram Syndrome	Tricuspid regurgitation, Pulmonary arterial hypertension, Pulmonic stenosis, Left ventricular non...	OMIM:142900

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Slc6a6

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slc6a6.

No publications found that use IMPC mice or data for Slc6a6.

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MGI Allele	Allele Type	Produced
Slc6a6^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Slc6a6 MGI:98488

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Slc6a6 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data