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Gene: Dnm1l MGI:1921256

Gene Summary

Name:

dynamin 1-like

Synonyms:

Drp1, 6330417M19Rik, Dnmlp1, python

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
abnormal cornea morphology	Dnm1l^{tm1b(KOMP)Wtsi}	HET	Early adult	1.92×10^-05
abnormal optic disk morphology	Dnm1l^{tm1b(KOMP)Wtsi}	HET	Early adult	8.84×10^-05
persistence of hyaloid vascular system	Dnm1l^{tm1b(KOMP)Wtsi}	HET	Early adult	2.40×10^-07
abnormal coat/ hair morphology	Dnm1l^{tm1b(KOMP)Wtsi}	HET	Early adult	8.16×10^-05
preweaning lethality, complete penetrance	Dnm1l^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
abnormal vitreous body morphology	Dnm1l^{tm1b(KOMP)Wtsi}	HET	Early adult	1.55×10^-07

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Human diseases caused by Dnm1l 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 Dnm1l (4 diseases)
Human diseases predicted to be associated with Dnm1l (1042 diseases)

The table below shows human diseases associated to Dnm1l by orthology or direct annotation.

Disease	Matching phenotypes	Source
Optic Atrophy 5	Optic disc pallor, Optic atrophy	OMIM:610708
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy	ORPHA:330050
Autosomal Dominant Optic Atrophy, Classic Form	Temporal optic disc pallor, Cataract, Optic atrophy, Morning glory anomaly	ORPHA:98673
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Optic disc pallor, Optic atrophy	OMIM:614388

The table below shows human diseases predicted to be associated to Dnm1l by phenotypic similarity.

Disease	Matching phenotypes	Source
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate...	OMIM:614672
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Cardiomyopathy, Dilated, 2A	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:611880
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Cardiomyopathy, Dilated, 1I	Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red...	OMIM:604765
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Retinitis Pigmentosa 42	Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu...	OMIM:612943
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy	OMIM:192600
Cardiomyopathy, Dilated, 1Gg	Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Car...	OMIM:613642
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomega...	ORPHA:2414
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Left ventricular outfl...	OMIM:613255
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta...	ORPHA:3282
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hyperammonemia, Decreased activity of mitochondrial complex I...	OMIM:614702
Auditory Neuropathy And Optic Atrophy	Rod-cone dystrophy, Optic atrophy	OMIM:617717
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Optic Atrophy--Spastic Paraplegia Syndrome	Optic atrophy	OMIM:311100
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Congestive heart failure, Increased ci...	OMIM:235200
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Cataract, Optic atrophy	OMIM:165300
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial ATP synthase complex, Decreas...	OMIM:618378
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Pleural Mesothelioma	Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology...	ORPHA:50251
Barth Syndrome	Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis	ORPHA:111
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio	OMIM:617272
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Optic atrophy	OMIM:136600
Optic Atrophy 2	Optic atrophy	OMIM:311050
Cirrhotic Cardiomyopathy	Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom...	ORPHA:57777
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant	Optic atrophy	OMIM:165199
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Nodular pattern on pulmonary HRCT, Crackle...	ORPHA:79126
Optic Atrophy 9	Optic disc pallor, Optic atrophy	OMIM:616289
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Pedal edema, Right ventr...	ORPHA:2041
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ...	OMIM:608099
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational a...	ORPHA:45452
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Hepatomegaly, Decreased activity of mitochondrial respiratory chain, Dilate...	OMIM:614299
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Attenuation of retinal blood vessels	OMIM:165510
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa...	ORPHA:615
Combined Oxidative Phosphorylation Deficiency 28	Increased serum pyruvate, Polyhydramnios, Congestive heart failure, Ragged-red muscle fibers, Dec...	OMIM:616794
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ...	OMIM:115197
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Elevated circulating creatine kinase concentration, Episodic tachypnea, Tac...	ORPHA:26793
Glaucoma 1, Open Angle, P	Increased cup-to-disc ratio	OMIM:177700
Congenital Myopathy 5 With Cardiomyopathy	Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske...	OMIM:611705
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Respiratory distress, Nonim...	ORPHA:367
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hyperalaninemia, Hepatomegaly, Apnea, Elevated circulating aspartate ami...	OMIM:619048
Hydrops Fetalis	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Capillary leak, Abno...	ORPHA:1041
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Muscle fiber hyaline bodies, Elevated circulating creatine kinase concentra...	OMIM:255160
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Tachypnea, Decreased activity of mitochondrial com...	OMIM:616501
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Congenitally Uncorrected Transposition Of The Great Arteries	Cardiac shunt, Cardiomegaly, Tachypnea, Dextrotransposition of the great arteries, Abnormality of...	ORPHA:860
Hydrops Fetalis, Nonimmune	Congestive heart failure	OMIM:236750
Staphylococcal Necrotizing Pneumonia	Shock, Respiratory distress, Pneumonia, Elevated circulating C-reactive protein concentration, No...	ORPHA:36238
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat...	ORPHA:99106
Focal Segmental Glomerulosclerosis 1	Edema, Hyperlipidemia, Hypertension, Hypoalbuminemia, Pleural effusion, Ascites	OMIM:603278
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic stenosis, Restrictive c...	OMIM:619433
Congenital Myopathy 8	Reduced vital capacity, Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive hea...	OMIM:618654
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Elevated circulating C-reactive protein concentration, Dyspnea, Tachypnea, Abnormal pulmonary int...	OMIM:616414
Atransferrinemia	Congestive heart failure	OMIM:209300
Avian Influenza	Elevated hepatic transaminase, Respiratory distress, Elevated circulating creatine kinase concent...	ORPHA:454836
Wagner Vitreoretinopathy	Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
Acute Lung Injury	Shock, Respiratory distress, Acute pancreatitis, Pneumonia, Edema, Elevated circulating C-reactiv...	ORPHA:178320
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Congestive heart ...	ORPHA:206546
Fetal Parvovirus Syndrome	Increased nuchal translucency, Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis	ORPHA:295
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Congestive heart failure, Splenomegaly...	OMIM:269920
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ragged-red muscle fibers...	ORPHA:457050
Complete Atrioventricular Septal Defect	Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem...	ORPHA:1329
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Edema, Pulmonary embolism, Congestive heart failure, H...	ORPHA:90308
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced rhabdomyolysis, Hepatomegaly, Elevated circulating creatine kinase concentration...	OMIM:201475
Wild Type Attr Amyloidosis	Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Abnormal pulmonary i...	ORPHA:330001
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Decreased activity of mitochondrial complex IV, Reduced l...	OMIM:614096
Peripartum Cardiomyopathy	Crackles, Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilat...	ORPHA:563
Retinitis Pigmentosa 71	Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph...	OMIM:616394
Ocular Pigment Dispersion With Or Without Glaucoma	Optic atrophy	OMIM:600510
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened...	OMIM:261740
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Iris cyst, Optic atrophy	OMIM:620086
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Increased mito...	ORPHA:263297
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve...	OMIM:608751
Noonan Syndrome 8	Ventricular septal defect, Polyhydramnios, Large for gestational age, Cryptorchidism, Pleural eff...	OMIM:615355
Intracranial Hypertension, Idiopathic	Papilledema	OMIM:243200
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB...	OMIM:232300
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Dilated cardiomyopathy, Decreased activity of mitochondrial complex IV,...	OMIM:616198
Spastic Ataxia-Corneal Dystrophy Syndrome	Optic atrophy, Corneal dystrophy, Developmental cataract	ORPHA:2572
Combined Oxidative Phosphorylation Deficiency 5	Decreased activity of mitochondrial ATP synthase complex, Edema, Decreased activity of mitochondr...	OMIM:611719
Hemochromatosis, Type 2A	Hepatomegaly, Congestive heart failure, Increased circulating ferritin concentration, Dilated car...	OMIM:602390
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, T...	ORPHA:264675
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Lung abscess, Abnormal pericardium morphology, Cong...	ORPHA:67
Congenital Enterovirus Infection	Respiratory distress, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hydrops f...	ORPHA:292
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Congenital Left Ventricular Aneurysm	Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave	ORPHA:1055
Spastic Ataxia 7, Autosomal Dominant	Optic atrophy	OMIM:108650
Primary Effusion Lymphoma	Pericardial effusion, Abnormal peritoneum morphology, Pleural effusion, Dyspnea	ORPHA:48686
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Butyrylcholinesterase Deficiency	Congestive heart failure, Myocardial infarction	ORPHA:132
Carnitine Deficiency, Systemic Primary	Respiratory distress, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated ...	OMIM:212140
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a...	OMIM:620203
Propionic Acidemia	Hepatomegaly, Apnea, Cerebellar hemorrhage, Tachypnea, Hyperammonemia, Dehydration, Cardiomyopath...	OMIM:606054
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Elevated transferrin satur...	OMIM:613313
Systemic Capillary Leak Syndrome	Pericarditis, Rhinorrhea, Myocarditis, Pedal edema, Cardiorespiratory arrest, Pleural effusion, H...	ORPHA:188
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cardiac arrest, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, ...	ORPHA:70587
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Angioedema, Em...	ORPHA:36412
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda...	ORPHA:75566
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Abnormal lung morphology, Tachypnea, Atelectasis, Whee...	ORPHA:60032
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ...	OMIM:615703
Hsd10 Mitochondrial Disease	Elevated circulating tiglylglycine concentration, Hypertrophic cardiomyopathy, Abnormal mitochond...	OMIM:300438
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Tachycardia, Heart block, Tachypnea, Elevated circulating creatini...	ORPHA:542323
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Constrictive pericarditis, Pleural effusion	OMIM:602248
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Hydrops fetalis, Myocardial fibrosis, Peric...	OMIM:253250
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy	Optic disc pallor, Optic atrophy	OMIM:618511
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Endocardial Fibroelastosis	Cryptorchidism, Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis	ORPHA:2022
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	ORPHA:85414
Aortic Arch Interruption	Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Pedal edema, Aortop...	ORPHA:2299
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Facial palsy, Splenomegaly, Dyspnea, Emphysema, Pneumothorax, Bronchiectasis, Abnor...	OMIM:612387
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cardio...	ORPHA:555874
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio...	OMIM:618052
Mitochondrial Complex I Deficiency, Nuclear Type 30	Congestive heart failure	OMIM:301021
Spastic Paraplegia 74, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy	OMIM:616451
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Corneal Dystrophy, Epithelial Basement Membrane	Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions	OMIM:121820
Combined Oxidative Phosphorylation Deficiency 17	Decreased activity of mitochondrial complex I, Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:615440
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Portal hypertension, Edema, Polyhydramnios, Hydrops fetalis, Hepatosplen...	OMIM:232500
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Pu...	ORPHA:199241
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh...	ORPHA:1345
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys...	ORPHA:1677
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Macrovesicular ...	OMIM:618234
Olivopontocerebellar Atrophy-Deafness Syndrome	Optic atrophy, Chorioretinal coloboma	ORPHA:2732
Combined Oxidative Phosphorylation Deficiency 22	Congestive heart failure, Decreased activity of mitochondrial complex IV, Decreased activity of m...	OMIM:616045
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo...	ORPHA:179
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Decreased mitochondrial number, Elevated circulating creatine kinase concentration, Respiratory i...	ORPHA:352447
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge...	ORPHA:60025
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma...	OMIM:614500
High Altitude Pulmonary Edema	Orthopnea, Tachycardia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema	ORPHA:330012
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop...	OMIM:617222
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero...	OMIM:217800
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Dextrocardia, Abnormal he...	ORPHA:2257
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Cerebral hemorr...	OMIM:617397
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu...	OMIM:263000
Ceroid Lipofuscinosis, Neuronal, 9	Rod-cone dystrophy, Optic atrophy	OMIM:609055
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, High-o...	ORPHA:423
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Tricuspid regurgitation, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchie...	OMIM:620233
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Camptodactyly of finger, Abnormal pulmonary valve morphology, Congestive heart fail...	ORPHA:1194
Retinitis Pigmentosa 63	Optic disc pallor, Rod-cone dystrophy	OMIM:614494
Sandhoff Disease	Splenomegaly, Congestive heart failure, Recurrent respiratory infections, Hepatomegaly	ORPHA:796
Dna2-Related Mitochondrial Dna Deletion Syndrome	Multiple joint contractures, Decreased mitochondrial number, Limb-girdle muscle weakness, Myopath...	ORPHA:352470
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne...	ORPHA:411703
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Edema, Elevated circulating C...	OMIM:619644
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Calf muscle pseudohypertrophy, Hypoventilation, Elevated circulating creatine kinas...	OMIM:310200
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Generalized dystonia, Congestive heart failure, Decreased activity of mitochondrial complex IV, A...	ORPHA:70472
Maternally-Inherited Diabetes And Deafness	Congestive heart failure, Hypertension, Arrhythmia, Hypertrophic cardiomyopathy, Abnormal circula...	ORPHA:225
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Respiratory insufficiency...	OMIM:617021
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Low-output congestive heart failure, Myopathy, Abnormality of the mitochond...	ORPHA:91130
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Pl...	OMIM:616897
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Dystonia, ...	OMIM:610978
Leber Congenital Amaurosis 4	Keratoconus, Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Attenuation of retinal ...	OMIM:604393
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ...	ORPHA:99105
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Respiratory failure...	ORPHA:890
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Elevated hepatic transaminase, Episodic tachypnea, Hyperammonemia, Elev...	OMIM:615160
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Congenital Gerbode Defect	Crackles, Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaf...	ORPHA:99095
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Bacterial Toxic-Shock Syndrome	Shock, Respiratory distress, Myositis, Tachycardia, Sinusitis, Elevated circulating creatine kina...	ORPHA:36234
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Optic atrophy	OMIM:618572
Familial Dyskinesia And Facial Myokymia	Resting tremor, Dystonia, Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb...	ORPHA:324588
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased serum pyruvate, Congestive heart failure, Dyspnea, Ragged-red muscle fibers, Dilated ca...	ORPHA:1349
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Optic Atrophy 12	Optic disc pallor, Optic atrophy	OMIM:618977
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Tachypnea, Hyperhomocystinemia, Elevat...	OMIM:614857
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Astigmatism, Retinal d...	OMIM:616188
Multiple Mitochondrial Dysfunctions Syndrome 4	Optic atrophy	OMIM:616370
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ...	OMIM:611040
Tetanus	Respiratory distress, Tachycardia, Elevated circulating creatine kinase concentration, Tremor, Ta...	ORPHA:3299
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Necrotizing Enterocolitis	Shock, Hyponatremia, Apnea, Edema, Peritonitis, Abnormal heart morphology, Bradycardia, Hypotensi...	ORPHA:391673
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	OMIM:609015
Neuraminidase Deficiency	Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly, Facial edema, Splenomegaly, Hydrops fetalis,...	OMIM:256550
Ceroid Lipofuscinosis, Neuronal, 11	Optic atrophy, Retinal dystrophy	OMIM:614706
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia, Apnea, Episodic tachypnea, Abnormal heart morphology, Aspiration pneumonia	ORPHA:79264
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e...	ORPHA:1473
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio...	OMIM:617047
Night Blindness, Congenital Stationary, Type 1G	Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy	OMIM:616389
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Scedosporiosis	Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Bronchitis, Abnormal respiratory syst...	ORPHA:449280
Cone-Rod Dystrophy 17	Cone/cone-rod dystrophy, Optic disc pallor	OMIM:615163
Pulmonary Arteriovenous Malformation	Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, Heart...	ORPHA:2038
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Intermittent...	ORPHA:324604
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic disc pallor, Optic atrophy	OMIM:182830
Leg, Absence Deformity Of, With Congenital Cataract	Progressive cataract, Optic nerve dysplasia, Developmental cataract	OMIM:246000
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Elevated creatine kinase after exercise, Su...	ORPHA:99901
Sialidosis Type 2	Skeletal muscle atrophy, Hepatomegaly, Tremor, Splenomegaly, Dyspnea, Flexion contracture, Hydrop...	ORPHA:87876
Double Outlet Right Ventricle	Tachycardia, Ventricular septal defect, Tachypnea, Double outlet right ventricle, Heart murmur, H...	ORPHA:3426
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Elevated circulating creatine kinase concent...	ORPHA:206569
Aspergillosis	Sinusitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Hypersensitivity pneumoniti...	ORPHA:1163
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Familial Cutaneous Collagenoma	Congestive heart failure, Angina pectoris, Cardiomyopathy	ORPHA:53296
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left...	OMIM:540000
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Telangiectasia of the skin, Abnormal pericardium morphology, Myocard...	ORPHA:679
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Ascites	ORPHA:2198
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Leukoencephalopathy With Vanishing White Matter 2	Cataract, Optic atrophy	OMIM:620312
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent...	OMIM:300257
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Dystonia, Congestive heart failure, Dilated cardiomyopathy, Choreoathetosis, Faci...	OMIM:606703
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Edema, Pulmonary embolism, Facial edema, Respiratory tract infection, Hyperlipid...	ORPHA:567546
Scorpion Envenomation	Bundle branch block, Increased circulating NT-proBNP concentration, Edema, Tremor, Tachypnea, Pro...	ORPHA:466677
Desminopathy	Sudden cardiac death, Supraventricular arrhythmia, Respiratory insufficiency due to muscle weakne...	ORPHA:98909
Cocaine Intoxication	Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ...	ORPHA:90068
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Atelectasis, Tachypnea, Pulm...	OMIM:267450
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Respiratory distress, Abnormal heart v...	ORPHA:781
Optic Atrophy 6	Optic atrophy	OMIM:258500
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Apnea, Cardiac arrest, Edema, Ja...	ORPHA:20
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Elevated circulating creatine kinase concentration, Mitochondrial hypertrophy, Dila...	OMIM:602541
Lymphatic Malformation 7	Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial ...	OMIM:617300
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Tachypnea, Pulmonary arterial hypertension, Cardiomegaly	OMIM:613320
Wolfram-Like Syndrome, Autosomal Dominant	Optic disc pallor, Optic atrophy	OMIM:614296
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Dyspnea, Ascites, Polycystic liver disease, Increased total bilirubin	OMIM:174050
Tularemia	Respiratory distress, Tachycardia, Pneumonia, Cough, Pleural effusion	ORPHA:3392
American Trypanosomiasis	Hepatomegaly, Edema, Periorbital edema, Myocarditis, Congestive heart failure, Splenomegaly, Dysp...	ORPHA:3386
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Optic atrophy	ORPHA:2773
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Congestive heart failure, Left ventricular outflow tra...	OMIM:614980
Retinitis Pigmentosa 26	Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:608380
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Eisenmenger Syndrome	Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar...	ORPHA:97214
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Nephrosialidosis	Pericardial effusion, Ascites	OMIM:256150
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati...	ORPHA:99103
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hepatomegaly, Scapul...	ORPHA:26791
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Respiratory insufficiency...	ORPHA:157973
Usher Syndrome, Type Iiib	Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels	OMIM:614504
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer...	OMIM:610198
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Plantar telangiectasia, Palpebral edema, Predominantly lower limb lymphedema, Hydrops fetalis, Hy...	ORPHA:69735
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Congest...	ORPHA:52430
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Ascites	ORPHA:858
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o...	OMIM:600059
Cardiocranial Syndrome, Pfeiffer Type	Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, T...	ORPHA:2872
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyhydramnios, Pericardial effusion, Cryptorchidism, Recurre...	OMIM:618183
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Acute pancreatitis, Portal hypertensio...	OMIM:619487
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Crackles, Nonproductive cough, Atelectasis...	ORPHA:2902
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona...	OMIM:617087
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa...	ORPHA:31826
Blue Cone Monochromatism	Abnormality of retinal pigmentation, Corneal dystrophy	ORPHA:16
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism...	OMIM:300476
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def...	ORPHA:137675
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Cardiorespiratory arre...	ORPHA:99828
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Pediatric Systemic Lupus Erythematosus	Myositis, Edema, Pericardial effusion, Raynaud phenomenon, Dyspnea, Pleural effusion, Ascites	ORPHA:93552
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Neonatal respiratory distress, Spinal muscular atrophy, Secundum atrial septal defect, Congestive...	OMIM:616866
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera...	ORPHA:64743
Immunodeficiency 87 And Autoimmunity	Elevated circulating C-reactive protein concentration, Atrial septal defect, Atrioventricular can...	OMIM:619573
Secondary Intestinal Lymphangiectasia	Intestinal lymphedema, Edema, Right ventricular failure, Lymphedema, Reduced circulating transfer...	ORPHA:90363
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele...	ORPHA:100085
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Elevated trans...	ORPHA:139507
Infantile-Onset Spinocerebellar Ataxia	Abnormality of the autonomic nervous system, Optic atrophy	ORPHA:1186
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Edema, Cryptorchidism, Elevated circulating creatinine concentration, Cholestasis, ...	OMIM:608104
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Congestive heart failure, Cardiomegaly	OMIM:300886
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated hepati...	OMIM:619355
Erdheim-Chester Disease	Abnormal pericardium morphology, Retroperitoneal fibrosis, Congestive heart failure, Dyspnea, Abn...	ORPHA:35687
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Polyhydramnios, Splenomegaly, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Ascites...	ORPHA:1046
Beta-Ketothiolase Deficiency	Hepatomegaly, Edema, Tachypnea, Hyperammonemia, Dehydration, Hypertension, Hyperuricemia, Hypoten...	ORPHA:134
Cholera	Hyponatremia, Tachycardia, Tachypnea, Abnormal blood ion concentration, Dehydration, Hypovolemic ...	ORPHA:173
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Congestive heart failure, Microvesicular hepatic steatosis, Dilate...	OMIM:611126
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Polyhydramnios, Splenomegaly, Congestive heart failure, Hydrops fetal...	ORPHA:163596
Congenital Sialidosis Type 2	Hepatomegaly, Abnormal EKG, Edema, Respiratory tract infection, Telangiectasia, Abnormal heart mo...	ORPHA:93400
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Nonimmune hydrops fetalis, Abnormality of the musculature of the limbs, Lymphedema, Hi...	ORPHA:137667
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Edema, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, ...	ORPHA:90362
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H...	ORPHA:464321
Mitochondrial Complex I Deficiency, Nuclear Type 29	Dyspnea, Abnormal heart morphology, Palpitations, Decreased activity of mitochondrial complex I, ...	OMIM:618250
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Cholestasis, Progressive Familial Intrahepatic, 5	Nonimmune hydrops fetalis, Elevated circulating alpha-fetoprotein concentration, Elevated circula...	OMIM:617049
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Facial hy...	ORPHA:308552
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, Mitral...	OMIM:616564
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema	OMIM:618773
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration...	OMIM:251880
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhydramnios, Perior...	OMIM:616843
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re...	OMIM:614473
Lymphoproliferative Syndrome 1	Hepatomegaly, Elevated circulating C-reactive protein concentration, Pericardial effusion, Increa...	OMIM:613011
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Skeletal muscle atrophy, Cholangitis, Pulmonary embolism, Intracranial hemo...	ORPHA:3260
Maternal Uniparental Disomy Of Chromosome X	Predominantly lower limb lymphedema, Camptodactyly of finger, Congestive heart failure, Flexion c...	ORPHA:261519
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Pericarditis, Camptodactyly of finger, Mitral valve prolapse, Mitral regurgitation, Pleuritis, Ca...	ORPHA:2848
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Pleural effusion, Lymphedema	ORPHA:545
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Congestive heart failure, Abno...	ORPHA:79083
Babesiosis	Hepatomegaly, Myocardial infarction, Splenomegaly, Congestive heart failure, Jaundice, Recurrent ...	ORPHA:108
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Decreased muscle mass, Facial hypotonia, Polyhydramnios, Congestive heart failure, Atrial septal ...	ORPHA:500533
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac septum morphology...	OMIM:608776
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepat...	ORPHA:465508
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Pericardial effusion, Splenomegaly, Pancreatic cysts, Abnormal lu...	ORPHA:464329
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Edema, Pulmonary embolism, Hypoalbuminemia, Budd-Chiari syndrome, Recurrent lower r...	OMIM:226300
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ...	OMIM:265120
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Tachypnea, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood u...	OMIM:620085
Scimitar Syndrome	Respiratory distress, Heart block, Abnormal lung morphology, Hypoplasia of the diaphragm, Pulmona...	ORPHA:185
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Decreased activity of mitochondrial complex IV	OMIM:619063
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co...	ORPHA:2334
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,...	ORPHA:95459
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin...	OMIM:251270
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Myositis, Recurrent respiratory infections, Elevated circulating C-react...	OMIM:615934
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Optic atrophy	ORPHA:1538
Gaucher Disease Type 1	Hepatomegaly, Pericardial effusion, Splenomegaly, Hypersplenism, Abnormal pulmonary interstitial ...	ORPHA:77259
Absence Of The Pulmonary Artery	Cardiomegaly, Nonproductive cough, Pedal edema, Atrial septal defect, Patent foramen ovale, Abnor...	ORPHA:980
Autosomal Recessive Spastic Paraplegia Type 45	Optic atrophy	ORPHA:320396
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S...	OMIM:314400
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Retinitis Pigmentosa 78	Optic disc pallor, Cystoid macular edema	OMIM:617433
Hyperkalemic Periodic Paralysis	Hyponatremia, Skeletal muscle atrophy, Myotonia, Elevated circulating creatine kinase concentrati...	ORPHA:682
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Stuve-Wiedemann Syndrome 2	Respiratory distress, Congestive heart failure, Pulmonary arterial hypertension, Camptodactyly	OMIM:619751
Truncus Arteriosus	Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Tachypnea, Abnormal ...	ORPHA:3384
Dk1-Cdg	Elevated hepatic transaminase, Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hy...	ORPHA:91131
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor, Cerulean cataract	OMIM:616732
Glaucoma 1, Open Angle, F	Increased cup-to-disc ratio	OMIM:603383
Autosomal Recessive Spastic Paraplegia Type 57	Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:431329
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Elevated circulating acylcarnitine concentration, Tachypnea, Decreased activity of mitochondrial ...	OMIM:615838
Emery-Dreifuss Muscular Dystrophy	Myotonia, Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased c...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Myotonia, Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased c...	ORPHA:98853
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Serotonin Syndrome	Tachycardia, Tremor, Rhabdomyolysis, Tachypnea, Hypertension, Hypotension, Hepatic failure	ORPHA:43116
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative...	OMIM:619463
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu...	OMIM:301045
Poems Syndrome	Edema, Pericardial effusion, Respiratory insufficiency due to muscle weakness, Restrictive ventil...	ORPHA:2905
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Primary Sclerosing Cholangitis	Acute hepatic failure, Spider hemangioma, Hypoalbuminemia, Generalized amyotrophy, Hepatic fibros...	ORPHA:171
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi...	ORPHA:49827
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Co...	ORPHA:275766
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Edema, ...	ORPHA:70591
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Respiratory distress, Intermittent hype...	ORPHA:348
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hypertriglyceridemia, Congestive heart failure, Abnormality of skeletal muscle fibe...	ORPHA:2348
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy	OMIM:616171
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Periorbital edema, Congestive heart failure...	ORPHA:33226
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Congestive heart failure, Abnormal heart valve morphology, Heart murmur	ORPHA:3400
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Pulmonary ...	ORPHA:3427
Usher Syndrome, Type 1M	Drusen, Optic disc pallor	OMIM:618632
Leber Congenital Amaurosis 16	Optic disc pallor, Cataract	OMIM:614186
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cholestasis, Respiratory insuf...	ORPHA:746
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog...	ORPHA:891
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Abnormal mitochondrial shape, Respiratory insufficiency	OMIM:610773
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Sple...	OMIM:249100
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Spinal muscular atrophy, Camptodactyly of finger, Denervation of the diaphragm, Tachypnea, Distal...	OMIM:604320
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Respiratory distress, Bicuspid aortic ...	ORPHA:363705
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Myotonia, Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased c...	ORPHA:98855
Free Sialic Acid Storage Disease	Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Aplasia/Hypoplasia of the abdominal...	ORPHA:834
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Respiratory distress, Polyhydramnios, Conjugated...	OMIM:617156
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Congestive heart failure, Skeletal muscle hypertrophy, Macrog...	ORPHA:528
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy	OMIM:616079
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality of skeletal muscl...	OMIM:620278
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail...	ORPHA:1880
Citrullinemia Type I	Torticollis, Tachypnea, Hyperammonemia, Elevated plasma citrulline, Hepatic failure	ORPHA:247525
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Papilledema, Retinal arteriolar constriction	OMIM:124950
Multisystemic Smooth Muscle Dysfunction Syndrome	Hypoperistalsis, Cryptorchidism, Tachypnea, Hypertension, Atrial septal defect, Pulmonary arteria...	OMIM:613834
Tempi Syndrome	Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Hypoxemia, Abnormality of...	ORPHA:284227
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough...	ORPHA:723
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Non-Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin	ORPHA:141179
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Retinal degeneration	OMIM:614322
Mental Retardation With Optic Atrophy, Deafness, And Seizures	Optic atrophy	OMIM:309555
Combined Oxidative Phosphorylation Deficiency 20	Decreased activity of mitochondrial complex IV, Respiratory insufficiency, Left ventricular nonco...	OMIM:615917
X-Linked Emery-Dreifuss Muscular Dystrophy	Myotonia, Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased c...	ORPHA:98863
Pontocerebellar Hypoplasia, Type 13	Recurrent respiratory infections, Edema, Asthma, Decreased liver function, Pleural effusion	OMIM:618606
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Hypertension, Increased...	OMIM:215600
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract	ORPHA:65
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior...	OMIM:602499
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedema, Congestive heart f...	OMIM:301500
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ...	ORPHA:206549
Ovarian Hyperstimulation Syndrome	Generalized edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Pulm...	ORPHA:64739
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Congenital...	ORPHA:974
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph...	OMIM:221900
Spastic Paraplegia 82, Autosomal Recessive	Optic atrophy	OMIM:618770
Myofibrillar Myopathy 10	Elevated circulating creatine kinase concentration, Ankle flexion contracture, Elbow flexion cont...	OMIM:619040
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Abnormal lung lobation, ...	OMIM:265380
Optic Atrophy 5	Optic disc pallor, Optic atrophy	OMIM:610708
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Intracranial hemorrhage, Cough, Internal hemorrhage, Elevated circulating c...	ORPHA:340
Eosinophilic Gastroenteritis	Allergic rhinitis, Elevated circulating C-reactive protein concentration, Edema, Asthma, Hematoch...	ORPHA:2070
Alpha-Heavy Chain Disease	Splenomegaly, Hepatomegaly, Ascites, Hypocalcemia	ORPHA:100025
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Skeletal muscle atrophy, Apnea, Ragged-red muscle fibers, Flexion contractu...	ORPHA:17
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Cardiac arrest, Elevated ci...	OMIM:212138
Leptospirosis	Respiratory distress, Hepatomegaly, Pericarditis, First degree atrioventricular block, Jaundice, ...	ORPHA:509
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Elevated circulating phytanic acid concentration, Cardiom...	OMIM:266500
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Macular Dystrophy With Central Cone Involvement	Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo...	OMIM:616170
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retinal degeneration	OMIM:204200
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P...	OMIM:235510
Amaurosis-Hypertrichosis Syndrome	Cone/cone-rod dystrophy, Retinal dystrophy, Abnormal eyelash morphology, Synophrys, Optic atrophy...	ORPHA:1021
Atypical Rett Syndrome	Sudden episodic apnea, Episodic tachypnea, Tremor, Pill-rolling tremor, Dystonia, Abnormal patter...	ORPHA:3095
Lymphangiectasia, Pulmonary, Congenital	Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Ede...	OMIM:265300
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
Rh Deficiency Syndrome	Tachycardia, Jaundice, Tachypnea, Hepatosplenomegaly, Hypoxemia, Hyperbilirubinemia, Reduced hapt...	ORPHA:71275
Colchicine Poisoning	Hyponatremia, Respiratory distress, Myocarditis, Congestive heart failure, Hypovolemia, Abnormal ...	ORPHA:31824
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Jaundice, Hyper...	ORPHA:1667
X-Linked Spinocerebellar Ataxia Type 3	Optic atrophy	ORPHA:85297
Striatonigral Degeneration, Infantile	Optic atrophy	OMIM:271930
Spastic Paraplegia Type 7	Abnormal mitochondrial morphology	ORPHA:99013
Wildervanck Syndrome	Facial palsy, Lens subluxation, Pseudopapilledema, Low posterior hairline	ORPHA:3456
Cednik Syndrome	Congestive heart failure	ORPHA:66631
Gorham-Stout Disease	Pleural effusion, Torticollis, Edema, Rhinorrhea	ORPHA:73
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Optic disc pallor	OMIM:619389
Congenital Disorder Of Glycosylation, Type Iaa	Optic disc pallor, Hypertrichosis, Attenuation of retinal blood vessels	OMIM:617082
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Hepatic steatosis, Portal hypertension, Cough, Tachypnea, Abnormal...	OMIM:613658
Pyruvate Dehydrogenase Deficiency	Tremor, Dyspnea, Tachypnea, Choreoathetosis, Dystonia	ORPHA:765
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Hypercalcemia, Polyhydramnios, Hydrops fetalis, Ascites	ORPHA:2123
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon morphology, Macroglossia, ...	ORPHA:85446
Joubert Syndrome 3	Atrial septal defect, Episodic tachypnea, Neonatal breathing dysregulation, Central apnea	OMIM:608629
Hellp Syndrome	Elevated hepatic transaminase, Pulmonary edema, Cerebral hemorrhage, Increased body weight, Hypot...	ORPHA:244242
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe...	OMIM:153400
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly...	OMIM:203800
Rapidly Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin, Hepatic hemangioma	ORPHA:141184
Chédiak-Higashi Syndrome	Hyponatremia, Elevated hepatic transaminase, Recurrent respiratory infections, Hypertriglyceridem...	ORPHA:167
Nocardiosis	Respiratory distress, Pericarditis, Liver abscess, Abnormal heart valve morphology, Pneumonia, Pr...	ORPHA:31204
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas...	ORPHA:83461
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Hip contracture, Scapular winging, Hepatomegaly, Limb joint contracture, Sh...	OMIM:620369
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic stea...	ORPHA:2137
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Elevated circulating creati...	OMIM:615895
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Retinal thinning	OMIM:618970
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Elevated circulating creatine kinase concentration, Splenomegaly, ...	ORPHA:565612
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Polyhydramnios, Lymphedema, Cryptorchidism, Splenomegaly...	OMIM:235255
Joubert Syndrome 7	Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation	OMIM:611560
Methionine Malabsorption Syndrome	Tachypnea, Positive ferric chloride test	OMIM:250900
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo...	ORPHA:183
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Lymphedema, Atelectasis, Dyspnea, ...	ORPHA:538
Merrf	Optic atrophy	ORPHA:551
Alkuraya-Kucinskas Syndrome	Edema, Pericardial effusion, Webbed neck, Camptodactyly, Arthrogryposis multiplex congenita, Pleu...	OMIM:617822
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Tremor, Congestive heart failure, Obesity, Macroorchidism	ORPHA:3077
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Postural tremor, Cryptorchidism, Jaundice, Ascites, ...	ORPHA:79239
Friedreich Ataxia	Abnormal EKG, Congestive heart failure, Decreased pyruvate carboxylase activity, Mitochondrial ma...	OMIM:229300
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Optic atrophy, Premature graying of hair, Abnormal optic nerve morpholo...	ORPHA:33445
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Rod-cone dystrophy, Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remye...	OMIM:311070
Behçet Disease	Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myositis, Myocardial infarction,...	ORPHA:117
Ovarian Fibroma	Mesenteric cyst, Pleural effusion, Ascites, Peritonitis	ORPHA:314473
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Microvesic...	OMIM:618278
Analbuminemia	Edema, Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, H...	OMIM:616000
Niemann-Pick Disease, Type A	Skeletal muscle atrophy, Hepatomegaly, Recurrent respiratory infections, Elevated circulating asp...	OMIM:257200
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca...	OMIM:230500
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip...	OMIM:616469
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hand muscle weakness, Fatty re...	ORPHA:98908
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio	OMIM:618880
Brachytelephalangic Chondrodysplasia Punctata	Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,...	ORPHA:79345
Leber Hereditary Optic Neuropathy	Retinal vascular tortuosity, Optic atrophy, Retinal telangiectasia	ORPHA:104
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentrati...	ORPHA:353
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Hepatosplenomegaly, Decreased li...	ORPHA:98850
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Optic atrophy, Cataract, Sensory axonal neuropathy	ORPHA:329314
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Lymphedema, Atrioventricular block, Emphysema, ...	ORPHA:324
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Gaucher Disease, Perinatal Lethal	Respiratory distress, Hepatomegaly, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegal...	OMIM:608013
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated creatine kinase after exercise, Sudden epis...	ORPHA:159
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo...	ORPHA:67043
Joubert Syndrome 23	Tachypnea, Apnea	OMIM:616490
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Chylous Ascites	Ascites, Pancreatitis, Lymphedema	ORPHA:1160
Gm1 Gangliosidosis	Recurrent respiratory infections, Generalized dystonia, Ventricular septal defect, Camptodactyly ...	ORPHA:354
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Intellectual Developmental Disorder, X-Linked 101	Optic atrophy	OMIM:300928
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Congestive heart failure, S...	OMIM:617303
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Mitochondrial Complex I Deficiency, Nuclear Type 34	Optic disc pallor, Optic atrophy	OMIM:618776
Non-Functioning Paraganglioma	Hypercalcemia, Cerebral hemorrhage, Tremor, Congestive heart failure, Palpitations, Positive regi...	ORPHA:94080
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Edema, Congestive heart failure, Dyspnea, Heart murmur, Bacterial endocardi...	ORPHA:1054
Snakebite Envenomation	Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Edema, Angioedema, Rhabdomyolysis, I...	ORPHA:449285
Reynolds Syndrome	Hepatomegaly, Telangiectasia of the skin, Jaundice, Xerostomia, Respiratory insufficiency, Cirrho...	ORPHA:779
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Elevated circulating creatine kinase concentration, Crackles, Hypocapnia, ...	ORPHA:466650
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin...	OMIM:600132
Brucellosis	Hepatomegaly, Pericarditis, Liver abscess, Transient ischemic attack, Pneumonia, Elevated circula...	ORPHA:1304
Frontotemporal Dementia With Motor Neuron Disease	Abnormal mitochondrial morphology	ORPHA:275872
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Mitral atresia, Increased hepatocellular lipid droplets, Tremor, Microvesi...	OMIM:220111
Combined Oxidative Phosphorylation Deficiency 18	Decreased activity of mitochondrial complex I, Intrauterine growth retardation, Increased mitocho...	OMIM:615578
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hypertyrosinemia, Hepatomegaly, Acute hepatic failure, Elevated hepa...	OMIM:276700
Joubert Syndrome 30	Tachypnea, Apnea	OMIM:617622
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Triosephosphate Isomerase Deficiency	Respiratory distress, Skeletal muscle atrophy, Dystonia, Respiratory insufficiency due to muscle ...	OMIM:615512
Bronchial Neuroendocrine Tumor	Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Pneumonia, Right...	ORPHA:97287
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Splenomegaly, Congestive heart failure, Increased total bilirubin, Exertional dyspnea	ORPHA:90037
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic fa...	ORPHA:186
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Polyhydramnios, Tremor, Congestive heart failure, Flexion contracture, Recu...	OMIM:616271
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Splenomegaly, Pancreatic...	ORPHA:1655
Mucolipidosis Iv	Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma	OMIM:252650
Immunodeficiency 22	Pericarditis, Recurrent upper respiratory tract infections, Capillary leak, Recurrent lower respi...	OMIM:615758
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti...	ORPHA:263479
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Edema, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte h...	OMIM:605676
Fumarase Deficiency	Decreased fumarate hydratase activity, Polyhydramnios, Intrahepatic cholestasis, Ascites, Perimem...	OMIM:606812
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Pneumonia, Edema, Respiratory tract infection, Myocarditis, Dyspnea, Hyperkalemia, ...	ORPHA:544482
Ring Chromosome 22 Syndrome	Azoospermia, Pleural effusion, Edema, Lymphedema	ORPHA:1446
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Optic atrophy	ORPHA:2787
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Lymphatic Malformation 13	Nonimmune hydrops fetalis, Lymphedema, Hydrocele testis, Mitral regurgitation, Atrial septal defe...	OMIM:620244
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	ORPHA:99827
Leukoencephalopathy With Vanishing White Matter 4	Optic atrophy	OMIM:620314
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Acute hepatic failure, ...	ORPHA:131
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Po...	OMIM:602347
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, R...	OMIM:619518
Zygomycosis	Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Epistaxis, Hematemesis, Myocarditis, Perior...	ORPHA:73263
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Abnormal pattern of ...	ORPHA:3008
Meige Disease	Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Periorbital edem...	ORPHA:90186
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal...	OMIM:300770
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Flexion co...	OMIM:309900
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pericardial effusion, Splenomegaly, Dyspnea, Emphysema, Bronchiectasis, Abnormal pu...	OMIM:181000
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Arterial Calcification, Generalized, Of Infancy, 1	Neonatal respiratory distress, Myocardial infarction, Cardiomegaly, Congestive heart failure, Dil...	OMIM:208000
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Portal hypertensio...	ORPHA:79124
Alg8-Cdg	Hyponatremia, Elevated hepatic transaminase, Edema, Hydrops fetalis, Macroglossia, Camptodactyly,...	ORPHA:79325
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevat...	OMIM:608779
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Tremor, Congestive heart failur...	ORPHA:525731
Joubert Syndrome 9	Hepatic fibrosis, Apnea, Episodic tachypnea	OMIM:612285
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Peripheral axonal neuropathy, Optic atrophy	OMIM:620221
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m...	OMIM:500013
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Decreased activi...	ORPHA:506
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Optic atrophy, Facial palsy	ORPHA:178377
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Skeletal muscle atrophy, Respiratory distress, Hepatocellular carcinoma, M...	OMIM:256810
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Myocardial infarction, Orchitis, Splenomegaly, Peritonitis, ...	ORPHA:342
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Defective DNA repair after ultraviolet radiation damage, Hypertens...	OMIM:610965
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Bilateral cryptorchidism, Congestive heart failure, Dilated cardiomyopathy,...	ORPHA:2326
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Bicuspid aortic valve, Polyhydramnios, Lymphedema, Cryptorchidism, Splenomegaly, Hepatosplenomega...	OMIM:613563
Aceruloplasminemia	Torticollis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc...	ORPHA:48818
Retinitis Pigmentosa 66	Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Myotonia, Abnormal muscle fiber morphology, Impaired myocardial contractili...	ORPHA:681
Ovarian Hyperstimulation Syndrome	Ascites	OMIM:608115
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Ovarian Fibrothecoma	Pleural effusion, Ascites, Peritonitis	ORPHA:314478
Dihydropyrimidine Dehydrogenase Deficiency	Coloboma, Optic atrophy	OMIM:274270
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Hypocalcemia, Elevated hep...	OMIM:619991
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Ascites, Respiratory insufficiency	ORPHA:26790
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Increased nuchal translucency, ...	ORPHA:453499
Early-Onset X-Linked Optic Atrophy	Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy	ORPHA:98890
Leber Congenital Amaurosis 14	Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy	OMIM:613341
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Abnormal atrioventri...	ORPHA:280365
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Left-to-right shunt, Ventricular septal defect, Congestive hear...	ORPHA:99050
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Edema, Tremor, Pedal ed...	OMIM:277900
Coccidioidomycosis	Respiratory distress, Pericarditis, Pneumonia, Abnormality of the spleen, Peritonitis, Vasculitis...	ORPHA:228123
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Joubert Syndrome	Apnea, Episodic tachypnea, Situs inversus totalis, Tremor, Abnormal pattern of respiration	ORPHA:475
Farber Disease	Elevated hepatic transaminase, Skeletal muscle atrophy, Respiratory distress, Intrahepatic choles...	ORPHA:333
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Con...	ORPHA:505248
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Apneic episodes in infancy, Episodic tachypnea	ORPHA:163961
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Tremor, Myopathy, Increased variability in muscle fiber dia...	ORPHA:397744
Biliary, Renal, Neurologic, And Skeletal Syndrome	Edema, Polyhydramnios, Secundum atrial septal defect, Conjugated hyperbilirubinemia, Primum atria...	OMIM:619534
Arterial Tortuosity Syndrome	Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocardi...	ORPHA:3342
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea, Hyperammonemia	ORPHA:79242
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Congestive heart failure, Dyspnea, Flexion contracture, Xerostomia, P...	ORPHA:220393
Griscelli Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Pedal edema, Ascites, Abnormal circulating lipid...	ORPHA:381
Osteogenesis Imperfecta, Type Ii	Nonimmune hydrops fetalis, Congestive heart failure, Respiratory insufficiency, Thin skin, Pulmon...	OMIM:166210
Mucopolysaccharidosis Type 1	Recurrent respiratory infections, Sinusitis, Abnormal heart valve morphology, Apnea, Congestive h...	ORPHA:579
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea...	OMIM:620300
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Congestive heart failu...	ORPHA:363618
Legionnaires Disease	Hyponatremia, Pericarditis, Abnormal pleura morphology, Myocarditis, Splenomegaly, Jaundice, Abno...	ORPHA:549
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio...	ORPHA:247353
Senior-Boichis Syndrome	Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con...	ORPHA:84081
Paramyotonia Congenita Of Von Eulenburg	Handgrip myotonia, Myotonia of the upper limb, Myotonia, Facial muscle hypertrophy, Myotonia of t...	ORPHA:684
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Peripheral axonal neuropathy, Optic atrophy	OMIM:619425
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Optic atrophy	OMIM:619052
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Edema, Action tremor, Anasarca, Hypoalbuminemia, Pleural effusion, Intention tremor	OMIM:254900
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, Neonatal respiratory distress, Myotonia, Facial hypotonia, First degree atri...	ORPHA:589821
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Palpebral edema, Elevated circulating C-reactive pro...	ORPHA:50918
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa...	OMIM:619167
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Lysosomal Acid Lipase Deficiency	Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia...	ORPHA:275761
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Retinal arteriolar constriction, Optic atrophy	OMIM:249660
Myotonic Dystrophy 1	Respiratory distress, Atrial flutter, Atrial fibrillation, Myotonia, First degree atrioventricula...	OMIM:160900
Hutchinson-Gilford Progeria Syndrome	Congestive heart failure, Angina pectoris, Myocardial infarction	OMIM:176670
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My...	OMIM:152950
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Lymphoproliferative Syndrome 2	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Hepatosplenomegaly, Ascites	OMIM:615122
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Torticollis, Elevated carcinoma antigen 125 level, Elevated circulating...	ORPHA:370348
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Neonatal respiratory distress, Tremor, Abnormality of the pancreas...	ORPHA:69665
Pancreatic insufficiency, combined exocrine	Congestive heart failure	OMIM:260450
Sarcoidosis	Heart block, Abnormal lung morphology, Ventricular tachycardia, Cough, Emphysema, Hepatomegaly, F...	ORPHA:797
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Dyspnea, Tachypnea, Hypophosphatemia	OMIM:239200
Seckel Syndrome 10	Ventricular hypertrophy, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Eleva...	OMIM:617253
Adult Acute Respiratory Distress Syndrome	Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ...	ORPHA:70578
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep...	ORPHA:73224
Malignant Peritoneal Mesothelioma	Dyspnea, Peritonitis, Ascites, Pedal edema	ORPHA:168811
Zebra Body Myopathy	Handgrip myotonia, Torticollis, Autophagic vacuoles, Facial palsy, Elevated circulating creatine ...	ORPHA:97240
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Seizures, Cortical Blindness, And Microcephaly Syndrome	Optic atrophy	OMIM:616632
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome	Retrobulbar optic neuritis, Optic atrophy	ORPHA:3151
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Apnea, Rhabdomyosarcoma, Polyhydramnios, Increased nuchal translucency, Abn...	ORPHA:1052
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic disc pallor, Optic atrophy	OMIM:612989
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Myotonia, Elevated circulating creatine kinase concentration, Flexion co...	OMIM:310440
Chromosome 18Q Deletion Syndrome	Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Trem...	OMIM:601808
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Increased hepatic g...	OMIM:619259
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ...	OMIM:612422
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Myocardial infarction, Raynaud phenom...	ORPHA:91139
Nipah Virus Disease	Respiratory distress, Tremor, Recurrent pharyngitis, Hypotension, Cough	ORPHA:99825
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Neonatal respiratory distress, Polyhydramnios, Type 1 muscle fiber atrophy, Type 2 muscle fiber p...	OMIM:619036
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Astigmatism, Optic atrophy	OMIM:248000
Fusariosis	Myositis, Sinusitis, Lung abscess, Pneumonia, Productive cough, Abnormality of the spleen, Perito...	ORPHA:228119
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Hennekam Syndrome	Recurrent respiratory infections, Camptodactyly of finger, Lymphedema, Pericardial effusion, Sple...	ORPHA:2136
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Decreased HDL cholesterol concentration, Decreased circulating apoli...	ORPHA:85450
Herpes Simplex Virus Stromal Keratitis	Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ...	ORPHA:137599
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab...	ORPHA:99094
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Splenomegaly, Recurrent pneumonia, Hepatosplenomegaly, Pulmonary fibrosis, Pl...	OMIM:618935
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Scrub Typhus	Tremor, Splenomegaly, Myocarditis, Dyspnea, Restrictive ventilatory defect, Hypotension, Cough	ORPHA:83317
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Congenital Hydrocephalus	Optic atrophy, Macular hypoplasia, Iris coloboma	ORPHA:2185
Wildervanck Syndrome	Pseudopapilledema	OMIM:314600
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,...	ORPHA:791
Cryptococcosis	Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Peritonitis, Limb mu...	ORPHA:1546
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hyperglutaminemia, Low plasma citrulline, Jaundice, Tachypnea, Hyperammonemia, Hyperprolinemia, H...	OMIM:615751
Srd5A3-Cdg	Cataract, Optic disc hypoplasia, Abnormal hair morphology, Optic atrophy, Coloboma, Rod-cone dyst...	ORPHA:324737
Graves Disease, Susceptibility To, 1	Congestive heart failure, Abnormal abdomen morphology	OMIM:275000
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu...	ORPHA:100080
Abetalipoproteinemia	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Cardiomegal...	ORPHA:14
Aarskog-Scott Syndrome	Congestive heart failure, Camptodactyly of finger, Cryptorchidism	ORPHA:915
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Decreased muscle mass, Congestive heart failure, Recurrent pneumonia, Elbow flexion contracture, ...	ORPHA:1900
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy, Highly arched eyebrow	OMIM:617121
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Epistaxis, Congestive heart failure, Perito...	ORPHA:727
Opticocochleodentate Degeneration	Optic atrophy	OMIM:258700
Optic Atrophy 8	Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials	OMIM:616648
Whipple Disease	Gastrointestinal hemorrhage, Hyponatremia, Pericarditis, Myositis, Hepatomegaly, Myocardial infar...	ORPHA:3452
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Increased nuchal translucency, Macroglossia, Disproportionate tall sta...	OMIM:615668
Orofaciodigital Syndrome Type 6	Apnea, Episodic tachypnea, Bilateral cryptorchidism, Tremor, Abnormal heart morphology	ORPHA:2754
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Splenomegaly, Congestive heart failure, Jaundice, Exertional dyspnea	ORPHA:90033
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Neop...	ORPHA:83469
Dominant Beta-Thalassemia	Hypoplasia of the musculature, Hepatocellular carcinoma, Hypersplenism, High-output congestive he...	ORPHA:231226
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertriglyceridemia, Hypercholesterolemia, Spontaneous pneumothorax, Pu...	OMIM:606721
Biotinidase Deficiency	Hepatomegaly, Apnea, Splenomegaly, Tachypnea, Hyperammonemia	OMIM:253260
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Congestive heart failure, Aplasia/Hypopla...	ORPHA:3309
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Ventricular septal defect, Polyhydramnios, Edema, Splenomegaly, Atelectasis, Respir...	OMIM:269860
Martsolf Syndrome 1	Recurrent respiratory infections, Cardiac arrest, Cryptorchidism, Congestive heart failure, Cardi...	OMIM:212720
Arima Syndrome	Hepatomegaly, Dyspnea, Tachypnea, Hypertension, Hepatic fibrosis, Cirrhosis, Hepatic steatosis	OMIM:243910
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Congestive heart failure, Vasc...	ORPHA:2331
Leukodystrophy, Hypomyelinating, 22	Optic disc pallor, Astigmatism	OMIM:619328
Monosomy 18Q	Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he...	ORPHA:1600
Lujo Hemorrhagic Fever	Shock, Elevated hepatic transaminase, Respiratory distress, Resting tremor, Elevated circulating ...	ORPHA:319213
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Atelectasis, Recurrent pneumonia, Cough, Deficiency or...	OMIM:306400
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Accessory spleen, Morgagni diaphragmatic hernia, Periorbital...	OMIM:613177
Null Syndrome	Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri...	ORPHA:280234
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Respiratory distress, Transient ischemic attack, Edema, Cardiomegaly, Pe...	ORPHA:51608
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Skeletal muscle atrophy, Hepatomegaly, Limb joint contracture, Postural tremor, Splenomegaly, Mic...	OMIM:301072
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Subcapsular cat...	OMIM:612674
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor, Cataract	ORPHA:3173
Retinal Dystrophy And Microvillus Inclusion Disease	Optic disc pallor	OMIM:619446
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Werner Syndrome	Skeletal muscle atrophy, Telangiectasia of the skin, Myocardial infarction, Congestive heart fail...	ORPHA:902
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Abnormal pleura morphology, Lymphedema, Splenomegaly, Hydrops f...	ORPHA:584
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Dyspnea, Bronchiectasi...	OMIM:123700
Myotonic Dystrophy 2	Handgrip myotonia, Tachycardia, Myotonia, Elevated circulating creatine kinase concentration, Pre...	OMIM:602668
Myotonia, Potassium-Aggravated	Skeletal muscle atrophy, Handgrip myotonia, Myotonia, Elevated circulating creatine kinase concen...	OMIM:608390
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Arrhythmia, Ascites	ORPHA:139411
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating creatine kinase concentration, Edema, Tremor, Quadriceps muscle weakness, Ra...	ORPHA:254892
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu...	ORPHA:100082
Mercury Poisoning	Respiratory distress, Tachycardia, Tremor, Dyspnea, Hypertension, Hypokalemia, Respiratory failur...	ORPHA:330021
Wolman Disease	Splenomegaly, Hepatomegaly, Ascites, Hepatic failure	ORPHA:75233
Cutaneous Mastocytoma	Telangiectasia of the skin, Dyspnea, Angioedema, Hypotension, Peau d'orange, Telangiectasia macul...	ORPHA:79455
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
X-Linked Intellectual Disability, Najm Type	Cataract, Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma	ORPHA:163937
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Ple...	ORPHA:29073
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia, Cerebral hemorrhage, Tremor, Congestive heart failure, Palpitations, Positive regi...	ORPHA:276621
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor	OMIM:619649
Beta-Thalassemia Major	Hepatomegaly, Hypoplasia of the musculature, Hepatocellular carcinoma, Hypersplenism, High-output...	ORPHA:231214
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated hepatic transaminase, Recurrent respiratory infections, Apnea, Tachypnea, Recurrent aspi...	ORPHA:397715
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Hand muscle atrophy, Distal lower limb amyotrophy, Handgrip myotonia, Myotonia, Camptodactyly of ...	ORPHA:324442
Acquired Idiopathic Sideroblastic Anemia	Splenomegaly, Congestive heart failure, Hepatomegaly	ORPHA:75564
Joubert Syndrome With Oculorenal Defect	Tachypnea, Apnea	ORPHA:2318
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Bilateral cryptorchidism, Congestive heart failure, Pneumothorax, Right ...	OMIM:617403
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials, Low posterior hairline, Astigmatism, Long...	OMIM:617523
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Palpebral edema, Diastasis recti, Increased serum beta-hexosa...	OMIM:252500
Retinitis Pigmentosa 74	Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Listeriosis	Respiratory distress, Pericarditis, Liver abscess, Pneumonia, Tremor, Myocarditis, Congestive hea...	ORPHA:533
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Optic atrophy	ORPHA:1528
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level, Hypotension	OMIM:203400
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P...	ORPHA:774
Autosomal Dominant Hypocalcemia	Writer's cramp, Congestive heart failure, Hyperphosphatemia, Hypocalcemia, Hypotension, Hypomagne...	ORPHA:428
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Respiratory insufficiency due to muscle we...	ORPHA:97282
Singleton-Merten Syndrome 1	Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Aortic valve calcific...	OMIM:182250
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Facial palsy, Splenomegaly, Hepatosplenomegaly, Respiratory failure, Hypocalcemia, ...	OMIM:259720
Holocarboxylase Synthetase Deficiency	Tachypnea, Hyperammonemia, Hyperventilation	OMIM:253270
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis	OMIM:619462
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Multiple Benign Circumferential Skin Creases On Limbs	Congestive heart failure, Edema, Cryptorchidism	ORPHA:2505
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Tachypnea	OMIM:245050
Perry Syndrome	Tremor, Central hypoventilation, Hypotension	ORPHA:178509
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Tachypnea, Hepatitis, Hyperammonemia, Hyperornithine...	ORPHA:415
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Congestive heart failure, Hyperlipidemia, Hypertension, Ischemic strok...	ORPHA:1830
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Optic atrophy, Microcornea, Keratoco...	OMIM:234050
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Cataract, Decreased sensory nerve conduction velocity, O...	OMIM:609033
Niemann-Pick Disease Type C	Limb dystonia, Hepatomegaly, Axial dystonia, Dystonia, Fetal ascites, Tremor, Splenomegaly, Jaund...	ORPHA:646
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Pulmonary hypoplasia, Ascites, Hepatic fibrosis, Hydrops fetalis	OMIM:614091
Autosomal Recessive Cutis Laxa Type 1	Abnormal cardiac ventricular function, Congestive heart failure, Dilatation of the ventricular ca...	ORPHA:90349
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Ppoma	Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Hypercalcemia, Abnormal abdo...	ORPHA:97278
Leber Optic Atrophy	Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy	OMIM:535000
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Cataract	OMIM:613730
Woods Syndrome	Frontal hirsutism, Optic atrophy, Supernumerary nipple	OMIM:615236
Carney Complex, Type 1	Cardiac myxoma, Congestive heart failure	OMIM:160980
Grfoma	Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Hypercalcemia, Abnormal abdo...	ORPHA:97261
Aa Amyloidosis	Hepatomegaly, Cholestasis, Hypotension, Abnormal heart morphology	ORPHA:85445
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Recurrent respiratory infections, Hyperkalemia, Dehydration, Hypotension	OMIM:264350
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Edema, Lymphedema, Chylothorax, Atrial septal defect, Pleural effusion	ORPHA:2526
Developmental And Epileptic Encephalopathy 48	Optic disc pallor, Rod-cone dystrophy, Long eyelashes	OMIM:617276
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Apnea, Cardiac conduction abnormality, Abnormality of Krebs cycle metabolism, Dyspn...	ORPHA:255210
Neurotrophic Keratopathy	Abnormal fifth cranial nerve morphology, Corneal scarring, Corneal stromal edema, Astigmatism, Re...	ORPHA:137596
Fryns Syndrome	Ectopic pancreatic tissue, Ventricular septal defect, Polyhydramnios, Large for gestational age, ...	OMIM:229850
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Hy...	OMIM:145600
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c...	OMIM:614195
Congenital Fibrinogen Deficiency	Abnormal bleeding, Decreased testicular size, Tachycardia, Internal hemorrhage, Prolonged prothro...	ORPHA:335
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Vici Syndrome	Recurrent respiratory infections, Elevated circulating creatine kinase concentration, Congestive ...	OMIM:242840
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Dehydration, Increased circulating renin lev...	ORPHA:556030
Sympathetic Ophthalmia	Papilledema, Retinal detachment, Cataract, Alopecia, Vitreous floaters, Poliosis, Vitritis, Retin...	ORPHA:79098
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys...	OMIM:268315
Goodpasture Syndrome	Crackles, Nodular pattern on pulmonary HRCT, Cough, Increased DLCO, Tachypnea, Restrictive ventil...	OMIM:233450
Mitochondrial Complex I Deficiency, Nuclear Type 27	Optic atrophy	OMIM:618248
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy	ORPHA:330050
Friedreich Ataxia 2	Abnormal EKG, Congestive heart failure, Decreased pyruvate carboxylase activity, Concentric hyper...	OMIM:601992
Spinal Arteriovenous Metameric Syndrome	Congestive heart failure	ORPHA:53721
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya...	OMIM:609049
Beta-Thalassemia Intermedia	Hepatomegaly, Hepatocellular carcinoma, High-output congestive heart failure, Splenomegaly, Jaund...	ORPHA:231222
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level, Hypotension	OMIM:620125
Mitchell-Riley Syndrome	Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirubinemia, Pancreatic ...	OMIM:615710
Triple A Syndrome	Optic atrophy, Iris coloboma, Motor axonal neuropathy	ORPHA:869
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu...	ORPHA:100075
Noonan Syndrome 1	Ventricular septal defect, Lymphedema, Cryptorchidism, Chylothorax, Pulmonic stenosis, Webbed nec...	OMIM:163950
Somatostatinoma	Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Hypercalcemia, Abnormal abdo...	ORPHA:97283
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Cataract, Macular coloboma, Abnormal auditory evoked potentials, Macular atrop...	OMIM:619260
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Congestive heart failure	ORPHA:137608
Obesity Due To Sim1 Deficiency	Postural hypotension with compensatory tachycardia, Obesity, Hypotension	ORPHA:369873
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171300
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Pulmonary art...	OMIM:616482
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Ascites, Hypocalcemia	OMIM:602361
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Myotonia, Elevated circulating creatine kinase concentration, Tremor, Proximal amyotrophy, Upper ...	ORPHA:209335
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level, Hypotension	OMIM:177735
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop...	OMIM:300578
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology...	ORPHA:1215
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Pulmonary embolism, Tremor, Dehydration, Hypo...	ORPHA:94093
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou...	ORPHA:99125
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Perlman Syndrome	Edema, Congenital diaphragmatic hernia, Large for gestational age, Cryptorchidism, Hypoplasia of ...	OMIM:267000
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Joubert Syndrome 1	Central apnea, Episodic tachypnea, Macroglossia, Hepatic fibrosis, Neonatal breathing dysregulation	OMIM:213300
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia, Cerebral hemorrhage, Tremor, Congestive heart failure, Palpitations, Positive regi...	ORPHA:29072
Vernal Keratoconjunctivitis	Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate...	ORPHA:70476
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Apnea, Oculogyric crisis, Limb tremor, Cardiorespirato...	OMIM:608643
Congenital Disorder Of Glycosylation, Type Iq	Coloboma, Cataract, Optic atrophy, Hypertrichosis	OMIM:612379
Relapsing Fever	Elevated hepatic transaminase, Tachycardia, Epistaxis, Elevated circulating C-reactive protein co...	ORPHA:91547
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Myotonia, Abnormal muscl...	ORPHA:79102
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Thick eyebrow, Cataract, Corneal opacity, Optic atrophy, Coa...	ORPHA:585
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Wheezing, Abnormality of th...	ORPHA:79456
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Recurrent upper ...	ORPHA:508542
Geleophysic Dysplasia 1	Hepatomegaly, Tricuspid stenosis, Camptodactyly of finger, Congestive heart failure, Aortic valve...	OMIM:231050
Sepsis In Premature Infants	Hepatomegaly, Tachycardia, Abnormal mucociliary clearance, Elevated circulating C-reactive protei...	ORPHA:90051
Dystonia-Aphonia Syndrome	Abnormal mitochondrial shape	ORPHA:412217
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Optic atrophy, Sensory axonal neuropathy, Motor axonal neuropathy	OMIM:609541
Phacoanaphylactic Uveitis	Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, Vitritis, Abnormal...	ORPHA:209959
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Tremor, Hypertension...	ORPHA:91347
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Glucagonoma	Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Hypercalcemia, Abnormal abdo...	ORPHA:97280
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To	Nonarteritic anterior ischemic optic neuropathy	OMIM:258660
Marfan Syndrome	Aortic regurgitation, Pulmonary artery dilatation, Decreased muscle mass, Tricuspid regurgitation...	OMIM:154700
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Dyspnea, Wheezing, Flexion contracture, Xerostomia, Bronchiectasis...	ORPHA:99921
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Ascites, Oligozoospermia	ORPHA:91348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re...	OMIM:614643
Infant Botulism	Hyponatremia, Cardiac arrest, Respiratory insufficiency due to muscle weakness, Dyspnea, Xerostom...	ORPHA:178478
Johanson-Blizzard Syndrome	Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr...	OMIM:243800
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal mitochondrial shape	ORPHA:485421
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Skeletal muscle atrophy, Decreased HDL cholesterol concentration, ...	OMIM:256040
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Supernumerary nipple	ORPHA:1173
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage	ORPHA:49566
Lymphatic Malformation 12	Neonatal respiratory distress, Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphede...	OMIM:620014
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Polysplenia, Extrapulm...	OMIM:200995
Hereditary Angioedema Type 1	Respiratory distress, Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of ha...	ORPHA:100050
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoventilation, Microvesicul...	OMIM:203700
Renal Tubular Dysgenesis	Respiratory insufficiency, Pulmonary hypoplasia, Hypotension, Oligohydramnios	OMIM:267430
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Congestive heart failure, Recurrent upper respiratory tract infections, Hepatitis, Renovascular h...	ORPHA:391487
Joubert Syndrome 2	Central apnea, Episodic tachypnea, Neonatal breathing dysregulation	OMIM:608091
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Tricuspid stenosis, Edema, Right ventricular failure, Arterial occ...	ORPHA:100078
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Res...	OMIM:225400
Madras Motor Neuron Disease	Optic atrophy, Facial palsy	ORPHA:137867
Pancreatitis, Hereditary	Pancreatic calcification, Pancreatic pseudocyst, Pleural effusion, Pancreatitis, Exocrine pancrea...	OMIM:167800
Myotonia Fluctuans	Handgrip myotonia, Myotonia of the upper limb, Apnea, Myotonia of the face, Cold-sensitive myoton...	ORPHA:99734
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Albinism, Silver-gray hair, Myopic astigmatism, Blue ...	OMIM:614077
Myotonia Congenita, Autosomal Dominant	Handgrip myotonia, Myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm...	OMIM:160800
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Congestive heart failure, Asthma, Obesity, Abnormal heart morphology, ...	ORPHA:444077
Osteopetrosis, Autosomal Recessive 4	Optic disc pallor, Optic atrophy, Facial palsy	OMIM:611490
Familial Glucocorticoid Deficiency	Hyponatremia, Cryptorchidism, Hyperkalemia, Testicular adrenal rest tumor, Azoospermia, Hypotensi...	ORPHA:361
Walker-Warburg Syndrome	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Retinal dystrophy, Optic ...	ORPHA:899
Meningococcal Meningitis	Shock, Neonatal respiratory distress, Elevated circulating C-reactive protein concentration, Hypo...	ORPHA:33475
Orofaciodigital Syndrome Type 2	Atrioventricular canal defect, Tachypnea, Apnea	ORPHA:2751
Paramyotonia Congenita	Handgrip myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Paradoxical myotonia, Inspir...	OMIM:168300
Marfan Syndrome	Pulmonary artery dilatation, Skeletal muscle atrophy, Mitral valve calcification, Spontaneous pne...	ORPHA:558
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Facial palsy	OMIM:615085
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotension	ORPHA:556037
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Abnormal mitochondrial shape	ORPHA:543470
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Atresia Of Urethra	Ascites, Pulmonary insufficiency, Oligohydramnios	ORPHA:105
Papilloma Of Choroid Plexus	Papilledema	OMIM:260500
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Elevated hepatic transaminase, Torticollis, Isometric tremor, Ventricular s...	OMIM:619475
Hydroxykynureninuria	Abnormal circulating tryptophan concentration, Tachycardia, Hypotension, Breathing dysregulation	ORPHA:79155
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h...	ORPHA:637
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Ascites, ...	ORPHA:100086
Myotonia Congenita, Autosomal Recessive	Myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm-up phenomenon, Mus...	OMIM:255700
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis	ORPHA:411777
Atypical Werner Syndrome	Skeletal muscle atrophy, Hypertriglyceridemia, Telangiectasia of the skin, Aortic valve calcifica...	ORPHA:79474
Weill-Marchesani Syndrome 2	Ventricular septal defect, Congestive heart failure, Elbow flexion contracture, Mitral regurgitat...	OMIM:608328
Williams Syndrome	Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial infarction,...	ORPHA:904
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Cryptorchidism, Neonatal asphyxia, Hyperkalemia, Dehydration, Azoospermia, Increase...	ORPHA:90791
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Hypotension	ORPHA:91354
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor...	ORPHA:3205
Cutis Marmorata Telangiectatica Congenita	Ascites, Telangiectasia of the skin	ORPHA:1556
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Nonproductive cough, Dehydration, Hypoalbumin...	ORPHA:99826
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Alopecia, Cataract, Supernumerary nipple, Keratitis,...	OMIM:308300
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Cataract, Corneal opacity	ORPHA:309288
Scalp-Ear-Nipple Syndrome	Palpebral edema, Cardiac myxoma, Congestive heart failure, Hypertension, Supraventricular tachyca...	OMIM:181270
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi...	ORPHA:99147
Rhabdoid Tumor	Hypertension, Internal hemorrhage	ORPHA:69077
Warburg Micro Syndrome 2	Cataract, Optic atrophy, Low anterior hairline, Developmental cataract, Microcornea	OMIM:614225
Fraser Syndrome 3	Ascites, Abnormal lung lobation, Nonimmune hydrops fetalis, Oligohydramnios	OMIM:617667
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Increased muscle glycogen content, Skeletal muscle atrophy, Myotonia, Hyperuricemia	ORPHA:371
Incontinentia Pigmenti	Telangiectasia of the skin, Camptodactyly of finger, Congestive heart failure, Retinal hemorrhage...	ORPHA:464
Myotonia Permanens	Myotonia, Dyspnea, Asthma, Generalized muscle hypertrophy, Skeletal muscle hypertrophy	ORPHA:99735
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou...	OMIM:187300
Inhalational Anthrax	Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension	ORPHA:247257
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Poliomyelitis	Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Hypoplasia of the mu...	ORPHA:2912
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Bronchiecta...	ORPHA:90348
Episodic Ataxia Type 1	Respiratory distress, Calf muscle hypertrophy, Myotonia, Choreoathetosis	ORPHA:37612
Autosomal Dominant Optic Atrophy, Classic Form	Temporal optic disc pallor, Cataract, Optic atrophy, Morning glory anomaly	ORPHA:98673
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Optic atrophy, Microcornea, Iris coloboma	ORPHA:3301
Hallermann-Streiff Syndrome	Congestive heart failure, Cryptorchidism, Respiratory insufficiency, Abdominal situs inversus, Tr...	ORPHA:2108
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia, Hepatitis, Hypotension, Prolonged neonatal jaundice	ORPHA:199296
Ascites, Chylous	Chylous ascites	OMIM:208300
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Handgrip myotonia, Prolonged QRS complex, Polyhydramnios, Supraventricul...	ORPHA:273
Combined Oxidative Phosphorylation Deficiency 29	Retinopathy, Axonal degeneration, Optic atrophy, Optic neuropathy	OMIM:616811
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Small thenar eminence, W...	OMIM:105650
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot...	OMIM:616959
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
Brody Disease	Skeletal muscle hypertrophy, Percussion myotonia, Myotonia, Flexion contracture	OMIM:601003
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae of the anterio...	OMIM:613154
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Scarring alopecia of scalp, Optic atrophy, Ectopia pupillae, Astigmatism	OMIM:618727
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Cataract, Corneal opacity, Retinal atrophy, Optic nerve hypoplasia, Optic atr...	OMIM:236670
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Highly arched eyebrow, Abnormal optic disc morphology, Decreased corneal thickness, Congenital st...	ORPHA:293967
Chondrodysplasia, Blomstrand Type	Fetal ascites, Hydrops fetalis, Polyhydramnios	OMIM:215045
Niemann-Pick Disease, Type C2	Hepatomegaly, Neonatal respiratory distress, Dystonia, Fetal ascites, Polyhydramnios, Splenomegal...	OMIM:607625
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Optic atrophy, Anisocoria, Abnormal autonomic nervous system physiology,...	OMIM:231550
Schwartz-Jampel Syndrome	Hip contracture, Skeletal muscle atrophy, Myotonia, Apnea, Shoulder flexion contracture, Elevated...	ORPHA:800
Congenital Tracheal Stenosis	Respiratory distress, Ventricular septal defect, Fetal ascites, Polyhydramnios, Neonatal asphyxia...	ORPHA:141127
Mitochondrial Complex I Deficiency, Nuclear Type 28	Optic disc pallor, Optic atrophy, Optic neuropathy	OMIM:618249
Hypokalemic Periodic Paralysis, Type 1	Myopathy, Hypokalemia, Myotonia	OMIM:170400
Homozygous Familial Hypercholesterolemia	Angina pectoris, Myocardial infarction, Sudden cardiac death, Dyspnea, Tendon xanthomatosis, Hype...	ORPHA:391665
Corticosteroid-Binding Globulin Deficiency	Hypertension, Hypokalemia, Hypotension	OMIM:611489
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Hypovolemia, Increased circulating renin lev...	ORPHA:427
Post-Traumatic Pituitary Deficiency	Decreased testicular size, Hypotension	ORPHA:95619
African Trypanosomiasis	Abnormal EKG, Pericarditis, Hepatomegaly, Tremor, Myocarditis, Congestive heart failure, Splenome...	ORPHA:3385
Stuve-Wiedemann Syndrome 1	Myotonia, Apnea, Elbow flexion contracture, Pulmonary arterial medial hypertrophy, Respiratory in...	OMIM:601559
Carney Complex	Neoplasm of the pancreas, Testicular neoplasm, Hepatocellular carcinoma, Cardiac myxoma, Congesti...	ORPHA:1359
Knobloch Syndrome 1	Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Band keratopathy, Ch...	OMIM:267750
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Optic disc pallor, Optic atrophy	OMIM:614388
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Hepatomegaly, Tricuspid stenosis, Asthma, Heart murmur, Palpitatio...	ORPHA:100079
Pde4D Haploinsufficiency Syndrome	Cryptorchidism, Obesity, Hypotension	ORPHA:439822
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Camptodactyly of finger, Pneumonia, Respiratory insufficiency, Hypote...	ORPHA:2135
Atelis Syndrome 2	Vitreous hemorrhage, Remnants of the hyaloid vascular system, Developmental cataract	OMIM:620185
Gitelman Syndrome	Prolonged QT interval, Rhabdomyolysis, Ventricular tachycardia, Hypokalemia, Increased circulatin...	OMIM:263800
Acute Adrenal Insufficiency	Hyponatremia, Orthostatic hypotension, Hypercalcemia, Myocardial infarction, Hypovolemia, Hyperka...	ORPHA:95409
Bartter Syndrome, Type 3	Hyperchloriduria, Dehydration, Hypokalemia, Increased circulating renin level, Hypotension	OMIM:607364
Xeroderma Pigmentosum, Complementation Group B	Decreased nerve conduction velocity, Pigmentary retinopathy, Cataract, Optic atrophy	OMIM:610651
Familial Dysautonomia	Orthostatic hypotension, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrop...	ORPHA:1764
Erythrocytosis, Familial, 2	Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage	OMIM:263400
Acute Liver Failure	Shock, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Jaundice, Hepatitis, Hyperammo...	ORPHA:90062
Alström Syndrome	Respiratory distress, Hypoplasia of the Leydig cells, Hepatic fibrosis, Hepatic steatosis, Hepato...	ORPHA:64
Joubert Syndrome 5	Central apnea, Episodic tachypnea, Neonatal breathing dysregulation	OMIM:610188
Neuroocular Syndrome	Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brittle hair, Highly ...	OMIM:619539
Myotonia With Skeletal Abnormalities And Mental Retardation	Skeletal muscle hypertrophy, Myotonia, Firm muscles	OMIM:255710
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal...	OMIM:606519
Spastic Paraplegia 79B, Autosomal Recessive	Myotonia, Postural tremor, Head titubation, Flexion contracture, Intention tremor	OMIM:615491
Idiopathic Camptocormia	Myositis, Myotonia, Elevated circulating creatine kinase concentration, Fatty replacement of skel...	ORPHA:1320
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He...	ORPHA:906
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Muscular Dystrophy, Barnes Type	Myopathy, Myotonia, Muscular dystrophy	OMIM:158800
Temtamy Preaxial Brachydactyly Syndrome	Abnormal lens morphology, Abnormal optic disc morphology, Optic atrophy	ORPHA:363417
Parkes Weber Syndrome	Subarachnoid hemorrhage, High-output congestive heart failure, Bounding pulse, Abnormal B-type na...	ORPHA:90307
Acute Radiation Syndrome	Interstitial pneumonitis, Hypotension, Telangiectasia	ORPHA:454831
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Psoriasiform dermatitis, Recurrent pharyngitis, Recurrent upper respiratory tract i...	ORPHA:293978
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia	Skeletal muscle atrophy, Myotonia	OMIM:254950
Spinocerebellar Ataxia Type 7	Congestive heart failure	ORPHA:94147
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Cryptorchidism, Hyperkalemia, Hypovolemia, Dehydration, Abnormal circulating choles...	ORPHA:168558
Plague	Respiratory distress, Hepatomegaly, Tachycardia, Edema, Hematemesis, Splenomegaly, Endocarditis, ...	ORPHA:707
Wolfram Syndrome 2	Optic atrophy, Optic neuropathy	OMIM:604928
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou...	OMIM:600376
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Pulmonary arteriovenous malformation, Telangiectasia, Hematochezia, Mitral valve prola...	OMIM:175050
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Cryptorchidism, Hyperkalemia, Hypovolemia, Dehydration, Abnormal circulating choles...	ORPHA:289548
Late-Onset Isolated Acth Deficiency	Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Hepatitis, Hyperuricemia, Hyp...	ORPHA:199299
Alexander Disease	Facial palsy, Sudden cardiac death, Tremor, Respiratory insufficiency, Hypertension, Hypotension	ORPHA:58
Acetazolamide-Responsive Myotonia	Skeletal muscle hypertrophy, Myotonia	ORPHA:99736
Stankiewicz-Isidor Syndrome	Abnormal optic disc morphology	OMIM:617516
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy, Axenfeld anomaly, Hypertrichosis	OMIM:266270
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Polyhydramnios, Fetal ascites...	OMIM:261515
Bardet-Biedl Syndrome 20	Retinal vascular tortuosity, Papilledema, Astigmatism, Rod-cone dystrophy	OMIM:619471
Hyperkalemic Periodic Paralysis	Myotonia, Hyperkalemia	OMIM:170500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina...	OMIM:253280
Episodic Ataxia, Type 2	Myotonia, Dystonia	OMIM:108500
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hepatomegaly, Tachycardia, Splenomegaly, Syncope, Hypotension	ORPHA:98849
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Apnea, Fetal ascites, Flexion contracture, Knee flexion contracture, Hypocalcemia, Diaphragmatic ...	OMIM:619503
Autosomal Dominant Optic Atrophy And Cataract	Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior...	ORPHA:67036
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no...	OMIM:234700
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Dystonia, Fetal ascites, Splenomegaly, Prolonged ne...	OMIM:257220
Pituitary Apoplexy	Hyponatremia, Hypertension, Hypotension	ORPHA:95613
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Shock, Hyponatremia, Hypovolemia, Hyperkalemia, Testicular adrenal rest tumor, Dehydration, Hypoc...	ORPHA:90794
Proximal Myotonic Myopathy	Myotonia	ORPHA:606
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Hypertension, Elevated circulating creatinine concentration, Hyperuricemia, Hypotension	OMIM:174000
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Neoplasm of the pancreas, Transien...	ORPHA:2929
Thomsen And Becker Disease	Myotonia	ORPHA:614
Neurocardiofaciodigital Syndrome	Optic disc pallor, Cataract, Sclerocornea, Sparse eyebrow, Sparse hair	OMIM:619869
Addison Disease	Hyponatremia, Orthostatic hypotension, Primary testicular failure, Hypercalcemia, Hyperkalemia, I...	ORPHA:85138
Kenny-Caffey Syndrome, Type 2	Retinal calcification, Papilledema, Developmental cataract	OMIM:127000
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Developmental cataract, Microcornea,...	OMIM:300166
Non-Functioning Pituitary Adenoma	Macroorchidism, Macroorchidism, postpubertal, Hypotension	ORPHA:91349
Fragile X-Associated Tremor/Ataxia Syndrome	Hypertension, Hypotension, Intention tremor	ORPHA:93256
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Facial palsy, Coloboma, Abnormal optic disc morphology, Retinal coloboma,...	ORPHA:508498
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Myotonia	ORPHA:391307
Holoprosencephaly 2	Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	OMIM:157170
Yellow Fever	Abnormal bleeding, Shock, Supraventricular arrhythmia, Excessive bleeding after a venipuncture, H...	ORPHA:99829
Superficial Siderosis	Abnormal bleeding, Persistent bleeding after trauma, Internal hemorrhage, Subarachnoid hemorrhage	ORPHA:247245
7Q11.23 Microduplication Syndrome	Sparse anterior scalp hair, Abnormal optic disc morphology, Astigmatism, Long eyelashes, Horizont...	ORPHA:96121
Prolactinoma	Hypotension	ORPHA:2965
Tuberous Sclerosis Complex	Hypertension, Internal hemorrhage	ORPHA:805
Non-Acquired Panhypopituitarism	Decreased testicular size, Hypotension	ORPHA:90695
Faundes-Banka Syndrome	Cryptorchidism, Flexion contracture of toe, Fetal ascites	OMIM:619376
Combined Pituitary Hormone Deficiencies, Genetic Forms	Decreased testicular size, Hypotension	ORPHA:95494
Vascular Ehlers-Danlos Syndrome	Abnormal bleeding, Telangiectasia of the skin, Transient ischemic attack, Cryptorchidism, Renovas...	ORPHA:286

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 Dnm1l

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 Dnm1l.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Oligodendroglial glycolytic stress triggers inflammasome activation and neuropathology in Alzheimer's disease.	Science advances (December 2020)	Dnm1l^{tm1a(KOMP)Wtsi}	PMC7717916

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Dnm1l^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Dnm1l^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Dnm1l^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice

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: Dnm1l MGI:1921256

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Immunophenotyping

Immunophenotyping

Human diseases caused by Dnm1l mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data