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Gene: Mgrn1 MGI:2447670

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Gene Summary

Name:
mahogunin, ring finger 1
Synonyms:
nc,  2610042J20Rik

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
abnormal cranium morphology Mgrn1em1(IMPC)Tcp HOM Early adult 7.53×10-05
abnormal uterus morphology Mgrn1em1(IMPC)Tcp HET Early adult 0.00
abnormal pancreas morphology Mgrn1em1(IMPC)Tcp HOM Early adult 0.00
abnormal skin morphology Mgrn1em1(IMPC)Tcp HOM Early adult 0.00
preweaning lethality, incomplete penetrance Mgrn1em1(IMPC)Tcp HOM   Early adult 0.00
enlarged urinary bladder Mgrn1em1(IMPC)Tcp HET Early adult 0.00
increased mean corpuscular hemoglobin Mgrn1em1(IMPC)Tcp HOM Early adult 1.64×10-07
increased circulating alkaline phosphatase level Mgrn1em1(IMPC)Tcp HOM Early adult 7.62×10-13
increased heart weight Mgrn1em1(IMPC)Tcp HET   Early adult 7.60×10-05
increased spleen weight Mgrn1em1(IMPC)Tcp HET Early adult 1.45×10-22
increased lymphocyte cell number Mgrn1em1(IMPC)Tcp HET Early adult 5.57×10-05
enlarged lymph nodes Mgrn1em1(IMPC)Tcp HOM Early adult 0.00
abnormal bone structure Mgrn1em1(IMPC)Tcp HOM Early adult 3.53×10-06
increased circulating bilirubin level Mgrn1em1(IMPC)Tcp HOM Early adult 2.35×10-08
abnormal sternum morphology Mgrn1em1(IMPC)Tcp HOM Early adult 0.00
abnormal skin coloration Mgrn1em1(IMPC)Tcp HOM Early adult 7.32×10-05
abnormal ear morphology Mgrn1em1(IMPC)Tcp HOM Early adult 1.02×10-11
decreased total body fat amount Mgrn1em1(IMPC)Tcp HET Early adult 9.26×10-05
decreased circulating HDL cholesterol level Mgrn1em1(IMPC)Tcp HOM Early adult 4.35×10-05
abnormal auditory brainstem response Mgrn1em1(IMPC)Tcp HOM   Early adult 1.75×10-10
decreased lymphocyte cell number Mgrn1em1(IMPC)Tcp HET Early adult 3.17×10-08
abnormal coat/hair pigmentation Mgrn1em1(IMPC)Tcp HOM Early adult 2.56×10-09
shortened QRS complex duration Mgrn1em1(IMPC)Tcp HET Early adult 1.06×10-06
decreased bone mineral content Mgrn1em1(IMPC)Tcp HOM Early adult 1.47×10-08
increased neutrophil cell number Mgrn1em1(IMPC)Tcp HET Early adult 1.90×10-09

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

145 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

16 Images

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Gross Pathology and Tissue Collection

Images

14 Images

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Combined SHIRPA and Dysmorphology

Images

4 Images

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Eye Morphology

Images Slit Lamp

19 Images

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Histopathology

Images

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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Human diseases caused by Mgrn1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mgrn1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... ORPHA:185
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... OMIM:613854
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End... OMIM:607482
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu... OMIM:616749
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... ORPHA:1330
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Ventricular septal defect, Atrial... ORPHA:99050
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613286
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:614096
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Myofiber disarray, I... OMIM:611880
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
Cardiac Lipidosis, Familial
Death in infancy, Cardiomyopathy, Congestive heart failure OMIM:212080
Hydrops Fetalis
Generalized edema, Lymphedema, Abnormal heart morphology, Ascites, Pleural effusion, Polyhydramni... ORPHA:1041
Meacham Syndrome
Death in childhood, Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial sept... OMIM:608978
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic ... OMIM:613255
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... OMIM:115197
Atrial Septal Defect 2
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... OMIM:607941
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Pulmonary arterial ... ORPHA:2414
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Atrioventricular c... OMIM:605376
Nephrosialidosis
Pericardial effusion, Bone-marrow foam cells, Death in childhood, Ascites OMIM:256150
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr... OMIM:208530
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric... OMIM:618773
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Abnormal coronary artery morphology, Pulmonary edema, Atrial s... ORPHA:980
Genitopalatocardiac Syndrome
Right aortic arch, Transposition of the great arteries, Double outlet right ventricle, Ventricula... OMIM:231060
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:617577
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Malignant Atrophic Papulosis
Constrictive pericarditis, Gastrointestinal hemorrhage, Stroke, Pleural effusion OMIM:602248
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Congestive he... ORPHA:3400
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc... OMIM:606685
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Abdominal situs inversus, Situs inversus totalis, Right aortic arch, Patent ... OMIM:620642
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... ORPHA:1686
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:613252
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Congestive heart failure, Ventricular arrhythmia, Vascular dilatation, Im... OMIM:600884
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Biventricular hypert... OMIM:618280
Dextrocardia
Abnormality of abdominal situs, Abnormal EKG, Abnormal heart morphology, Abnormal lung lobation, ... ORPHA:1666
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear... OMIM:605362
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... OMIM:613172
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Ascites, Oligohydramnios, Pleural effusion, Cardiomegaly, Bradycardi... OMIM:614702
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Death in childhood, Spinal muscular atrophy, Ventricular... OMIM:253300
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Generalized edema, Tetralogy of Fallot, Right aortic arch, Death in infa... OMIM:617478
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Ophthalmoparesis, Congestive heart failure, Muscl... OMIM:618654
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Dilated cardiomyo... OMIM:608099
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... OMIM:615779
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Ventricular septal defect, L... OMIM:615355
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Pleural Mesothelioma
Obstruction of the superior vena cava, Abnormal pleura morphology, Abnormal cardiovascular system... ORPHA:50251
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Hemochromatosis, Type 1
Alopecia, Cardiomyopathy, Congestive heart failure, Ascites, Azoospermia, Pleural effusion, Telan... OMIM:235200
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Abnormal mitral valve m... ORPHA:1354
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Trimethylaminuria
Splenomegaly, Trimethylaminuria, Neutropenia, Anemia, Tachycardia, Hypertension OMIM:602079
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur... ORPHA:330001
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Thoracic aortic aneurysm, Dextrotransposition of the gr... OMIM:619657
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Agenesis of pulmonary ves... OMIM:601186
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... OMIM:237800
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Neonatal death, Persistent left superior vena cava, Transposition ... OMIM:314390
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Persistent fetal circulat... ORPHA:363705
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:611879
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Hepatomeg... OMIM:620010
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Hypercholanemia, Familial, 2
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Osteopenia, Increased serum bile ac... OMIM:619256
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... ORPHA:615
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Biventricular hypertrophy, Death in early adulthood, Proximal muscle weakness, Elevated jugular v... OMIM:255160
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... OMIM:620570
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Edema, Congestive heart failure, Ascites, Abnorm... ORPHA:90308
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Myopathy, Pulmonary edema, Increased myocardial glycogen content, Vent... OMIM:261740
Primary Ciliary Dyskinesia
Atelectasis, Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abno... ORPHA:244
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter... ORPHA:300751
Hyperbilirubinemia, Rotor Type
Jaundice, Conjugated hyperbilirubinemia, Abnormality of skin pigmentation OMIM:237450
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Splenomegaly, Increased serum bile a... OMIM:619868
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Hearing impairment, Abnormality of the liver, Biliary tract abnormal... ORPHA:79234
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Dextrocardia, Recurrent re... OMIM:616037
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... ORPHA:154
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Dextrocardi... OMIM:615482
Congenital Gerbode Defect
Holosystolic murmur, Ventricular septal defect, Elevated jugular venous pressure, Right atrial en... ORPHA:99095
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Lymphedema, Oligohydramnios, Ventricular septal defect, Overriding aorta, Atrial ... OMIM:601927
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Pulmonary arterial hyp... OMIM:106700
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr... ORPHA:206546
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu... ORPHA:2326
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure OMIM:192600
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Double Outlet Right Ventricle
Hypoplastic left heart, Pulmonary artery atresia, Tetralogy of Fallot, Heart murmur, Heterotaxy, ... ORPHA:3426
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Death in childhood, Death in infancy, Congestive heart failure OMIM:615440
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Ped... ORPHA:2299
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:614679
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re... ORPHA:99105
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Abdominal situs inversus, Atrial reentry tachycardia, At... OMIM:270100
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:611884
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Hemothora... ORPHA:199241
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Death... OMIM:618845
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... ORPHA:1457
Infantile Sialic Acid Storage Disease
Osteopenia, Hypopigmentation of the skin, Fair hair, Splenomegaly, Conjugated hyperbilirubinemia,... OMIM:269920
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p... ORPHA:79126
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pneumothorax, Pleural effusion, Bronchiectasis ORPHA:411703
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Endocardial Fibroelastosis
Endocardial fibroelastosis, Restrictive cardiomyopathy, Congestive heart failure ORPHA:2022
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Premature graying of hair, Moy... OMIM:300845
Desminopathy
Atrioventricular block, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Fatigab... ORPHA:98909
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Arteriovenous malformation, Chylothorax, Congestive heart failure, Abnormal heart morp... ORPHA:137667
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione reductase... OMIM:618660
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Pulmonary... OMIM:265380
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrio... OMIM:611705
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Br... ORPHA:95430
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Sparse eyebrow, Multiple muscular ventricular septal defects, Polyhydramnios, Death in infancy, S... OMIM:620070
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv... OMIM:615067
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m... ORPHA:1345
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong... OMIM:613426
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Ascites, Pleural effusion, Bradycardia, Cerebral hemorrhage, Paten... OMIM:617397
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:618063
Uncombable Hair Syndrome 3
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair OMIM:617252
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dry hair, Myofiber disarray, Mitral regurgitation, Woolly scalp hair, Ventricular septal defect, ... OMIM:620519
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ascites, Pleural effusion, Ventricular septal defect, Cardiomegaly, ... OMIM:616897
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Erlenmeyer flask deformity of the femurs, Hypocholesterolemia, Hypersplenism, Splenom... OMIM:610539
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Hypocomplementemic Urticarial Vasculitis
Angioedema, Abnormal heart valve morphology, Emphysema, Ascites, Pleural effusion, Pericardial ef... ORPHA:36412
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Noonan Syndrome 10
Sparse eyebrow, Hypertrophic cardiomyopathy, Increased nuchal translucency, Pleural effusion, Mit... OMIM:616564
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... OMIM:615897
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Abnormal hemidiaphragm morph... ORPHA:2257
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice OMIM:179700
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Malaria
Anemia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia ORPHA:673
Edinburgh Malformation Syndrome
Frontal hirsutism, Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Cardiomyopathy, Dilated, 2J
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept... OMIM:620635
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Premature graying of hair OMIM:616371
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Stroke, Atria... ORPHA:49827
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Systemic Capillary Leak Syndrome
Hypotension, Pleural effusion, Pulmonary edema, Arrhythmia, Myocarditis, Pedal edema, Pericarditis ORPHA:188
Cirrhotic Cardiomyopathy
Congestive heart failure, Ascites, Elevated pulmonary artery pressure, Ventricular arrhythmia, Re... ORPHA:57777
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Recombinant Chromosome 8 Syndrome
Joint contracture of the hand, Cerebral atrophy, Tetralogy of Fallot, Ventricular septal defect, ... OMIM:179613
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Poland Syndrome
Hypoplasia of latissimus dorsi muscle, Absence of pectoralis minor muscle, Hypoplasia of deltoid ... OMIM:173800
Combined Oxidative Phosphorylation Deficiency 23
Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure OMIM:616198
Amoebiasis Due To Entamoeba Histolytica
Congestive heart failure, Abnormal pericardium morphology, Pleural effusion, Constrictive pericar... ORPHA:67
Glycogen Storage Disease Ii
Firm muscles, Sinus tachycardia, Muscle weakness, Dilatation of the cerebral artery, Limb muscle ... OMIM:232300
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti... OMIM:614672
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Pulmonary hypoplasia, Sec... OMIM:616866
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Death in ... OMIM:613759
Sandhoff Disease
Cherry red spot of the macula, Recurrent respiratory infections, Muscle weakness, Congestive hear... ORPHA:796
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... ORPHA:555874
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Reticulo... OMIM:618892
Albinism, Oculocutaneous, Type Vi
Fair hair, Generalized hypopigmentation OMIM:113750
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Congenital Amegakaryocytic Thrombocytopenia
Melanocytic nevus, Abnormal hemoglobin, Decreased skull ossification, Thrombocytopenia, Anemia ORPHA:3319
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Hepatomegaly, Anemia, Abnormal bone structure ORPHA:46532
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Dextrocardia, Recurrent respirat... OMIM:615444
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Neonatal death, Coarctation of aorta, Abnormal cardiac septum morphology... OMIM:601612
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Stroke-like episode, Ragged-red muscle fibers, Myopathy, Arrhythmia, Le... OMIM:540000
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Highly arched eyebrow, Pulmonary hypoplasia, Hypertrichosis, Tetralogy of... OMIM:618316
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Neonatal hyperbilirubinemia, Pigmentary retinopathy, Decreased response to growth hormo... ORPHA:3363
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Focal Segmental Glomerulosclerosis 1
Ascites, Hypertension, Edema, Pleural effusion OMIM:603278
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Numerous pigmented freckles, Patchy hypo- and hyperpigmentation OMIM:601706
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Facial hypotonia, Astrocytosis, Polyhydramnios, Atrial septal defect OMIM:611087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Lymphatic Malformation 6
Facial edema, Generalized edema, Chylothorax, Intestinal lymphangiectasia, Lymphedema, Ascites, P... OMIM:616843
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Pulmonary Arteriovenous Malformation
Epistaxis, Bacterial endocarditis, Transient ischemic attack, Pulmonary hemorrhage, Palpitations,... ORPHA:2038
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... OMIM:616860
Rotor Syndrome
Jaundice, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Intermittent jaundice ORPHA:3111
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Portal fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Por... OMIM:616278
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Ciliary Dyskinesia, Primary, 2
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:606763
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De... OMIM:617514
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Torticollis, Patent ductus arteriosus, Pulmonic ... OMIM:249670
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Tricuspid regurgitation, Atrioventricular canal defect, Congenital diaphr... ORPHA:1120
Short Stature-Wormian Bones-Dextrocardia Syndrome
Patent ductus arteriosus, Dextrocardia, Camptodactyly of finger ORPHA:2863
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Abdominal situs inversus, Situs inversus totalis, Dextrocardia OMIM:619607
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Arteritis, Abnormal pericardium morphology, Ischemic stroke, Pleural... ORPHA:679
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... OMIM:619924
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Cantu Syndrome
Congenital hypertrophy of left ventricle, Umbilical hernia, Lymphedema, Long eyelashes, Curly eye... OMIM:239850
Dubin-Johnson Syndrome
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality OMIM:237500
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Atrial Septal Defect 4
Coarctation of aorta, Atrial septal defect, Patent foramen ovale OMIM:611363
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Alopecia totalis, Ventricular septal defect, Persistent fetal circul... OMIM:618775
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Indomethacin Embryofetopathy
Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis ORPHA:1909
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Azoospermia, Hypogonadotropic h... OMIM:602390
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Left ventricular hypertrophy, Congestive heart failure, Bradycardia OMIM:619048
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart morphology, Stroke-like epi... ORPHA:70472
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Inc... ORPHA:3202
Congenital Enterovirus Infection
Hypotension, Fetal ascites, Cardiomyopathy, Pleural effusion, Polyhydramnios, Myocarditis, Hydrop... ORPHA:292
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Pulmonary arterial hypertension, Pneumothorax, Pulmonary fibrosis, A... OMIM:612387
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Atrioventricular block, Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Paten... ORPHA:26793
Systemic-Onset Juvenile Idiopathic Arthritis
Pleural effusion, Joint swelling, Pericarditis ORPHA:85414
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Congenital diaphragmatic hernia, Neonatal death, Ventricular septal defe... OMIM:615524
Alpha-Thalassemia
Generalized edema, Congestive heart failure, Pleural effusion, Pericardial effusion, Hydrops fetalis ORPHA:846
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Poems Syndrome
Muscle weakness, Hypertrichosis, Ascites, Hypogonadism, Leukonychia, Pleural effusion, Pulmonary ... ORPHA:2905
Ebstein Malformation Of The Tricuspid Valve
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Cerebral ischemia, Imperforate ... ORPHA:1880
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... OMIM:220210
Scedosporiosis
Pneumonia, Bronchitis, Pulmonary fibrosis, Pleuritis, Endocarditis, Pleural empyema, Pericarditis ORPHA:449280
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Pleural ef... OMIM:619644
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Crigler-Najjar Syndrome, Type Ii
Jaundice, Unconjugated hyperbilirubinemia OMIM:606785
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... OMIM:212093
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Palpi... ORPHA:206569
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Umbilical hernia, Atrial septal defect, Ventricular septal defect OMIM:615297
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Pericardial effusion, Thick eyebrow, Widow's peak OMIM:614684
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Alopecia, Palmar telangiectasia, Sparse body hair, Ascites, ... ORPHA:69735
Laubry-Pezzi Syndrome
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Palpitations... ORPHA:99094
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Pal... ORPHA:2847
Naxos Disease
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Curly h... ORPHA:34217
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger ORPHA:1937
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
Danon Disease
Limb muscle weakness, Proximal muscle weakness, Skeletal muscle autophagosome accumulation, Hyper... OMIM:300257
Pediatric Systemic Lupus Erythematosus
Alopecia, Muscle weakness, Ascites, Pleural effusion, Myositis, Raynaud phenomenon, Pericardial e... ORPHA:93552
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Dextrocardia, Ventricular septal defect OMIM:618067
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Periorbital edema, Joint contracture of the hand, Intestinal lymphangiectasia, Umbilical hernia, ... OMIM:235510
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... ORPHA:158057
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Death in childho... OMIM:620609
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure ORPHA:53296
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Jaundice, Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice, Neonatal unconjugated hyperbilirubinemia OMIM:237900
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Cellulitis, Splenomegaly, Increased proportion of transitional B cells, Decreased proportion of c... OMIM:615513
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit... OMIM:235700
Mulibrey Nanism
Congestive heart failure, Ascites, Cardiomegaly, Pericardial constriction, Recurrent lower respir... OMIM:253250
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Ped... ORPHA:99103
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s... OMIM:620203
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Neonatal death, Death in adolescence, Pulmonary arterial hypertension, ... OMIM:619751
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Persistent left superior vena cava, Overriding aorta, Double outlet right ve... ORPHA:3304
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Distal amyotrophy, Abnormal heart morphology, Foot dorsiflexor weakness, Patent foramen ovale, Ve... ORPHA:477817
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Mitral regurgitation, Knee flexion contracture, Ventricular septal defec... OMIM:603387
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Cardiomyopathy, Absent muscle fiber merosin, Atelectasis, Reduced left ventri... ORPHA:258
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia, Camptodactyly of finger ORPHA:1759
Acquired Partial Lipodystrophy
Hepatic steatosis, Proteinuria, Lymphocytosis, Microscopic hematuria, Lipoatrophy ORPHA:79087
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Tetralogy of Fallot, Ventricular se... OMIM:153400
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop... ORPHA:732
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricula... DECIPHER:39
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Congestive heart failure, Myopathy, Wolff-Parkinson-White syndrome OMIM:618234
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Umbilical hernia, Tetralo... OMIM:192430
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Limb hypertonia, Facial myokymia, Congestive heart failure ORPHA:324588
Classic Multiminicore Myopathy
Muscular dystrophy, Right ventricular failure, Congestive heart failure, Muscle fiber atrophy, In... ORPHA:324604
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development
Right aortic arch with mirror image branching OMIM:107500
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Astrocytosis, Gliosis, Neuronal loss in central nervous system, Recurrent aspir... ORPHA:204
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Short chordae tendineae ... OMIM:314400
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Crigler-Najjar Syndrome, Type I
Jaundice, Unconjugated hyperbilirubinemia OMIM:218800
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Conot... ORPHA:3097
Obesity And Hypopigmentation
Red hair OMIM:620195
Transaldolase Deficiency
Biventricular hypertrophy, Telangiectasia, Coarctation of aorta, Atrial septal defect, Hydrops fe... ORPHA:101028
Cholestasis-Lymphedema Syndrome
Neonatal cholestatic liver disease, Splenomegaly, Hyperlipidemia, Cirrhosis, Hepatomegaly, Jaundi... OMIM:214900
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Cranioacrofacial Syndrome
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Primary Intestinal Lymphangiectasia
Generalized edema, Intestinal lymphangiectasia, Ascites, Pleural effusion, Abnormal lymphatic ves... ORPHA:90362
Lymphoproliferative Syndrome, X-Linked, 1
Vasculitis, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B ce... OMIM:308240
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Combined Oxidative Phosphorylation Deficiency 28
Polyhydramnios, Ragged-red muscle fibers, Muscle weakness, Congestive heart failure OMIM:616794
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Congenital Disorder Of Glycosylation, Type Il
Global brain atrophy, Cerebellar atrophy, Cerebral atrophy, Ascites, Atrial septal defect, Perica... OMIM:608776
Morbid Obesity And Spermatogenic Failure
Premature coronary artery atherosclerosis, Congestive heart failure, Azoospermia, Oligozoospermia... OMIM:615703
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec... OMIM:619371
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Tricuspid regurgitation, Pleural effusio... OMIM:620233
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Increased total bilirubin ORPHA:2924
Erythroleukemia, Familial, Susceptibility To
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Heterochromia iridis, Premature graying of hair ORPHA:66633
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Hypertrophic cardiomyopathy, Congestive heart failure, Oligohydramnios, ... ORPHA:1194
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef... OMIM:619313
Naxos Disease
Sparse body hair, Premature ventricular contraction, Arrhythmia, Curly hair, Sparse eyebrow, Subu... OMIM:601214
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Stroke, Arrhythmia, Atrial sep... OMIM:249270
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Recurrent upper respiratory tract infections, Anasarca, Ascites, Pleural effusion, ... OMIM:618183
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Pulmonary sequestration, Atrial septal defect, Ventricular septal defect OMIM:618330
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Hyperbilirubinemia, Hepatomegaly,... OMIM:259720
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:277580
Q Fever
Pneumonia, Vasculitis, Abnormal vascular morphology, Abnormal heart valve morphology, Pleural eff... ORPHA:781
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Decreased muscle mass, Congestive heart failure, Polyhydramnios, Atrial septal defect, Facial hyp... ORPHA:500533
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Nemaline Myopathy 9
Polyhydramnios, Nemaline bodies, Arthrogryposis multiplex congenita, Ventricular septal defect OMIM:615731
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Glomerulonephritis, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Staphylococcal Necrotizing Pneumonia
Pneumonia, Hypotension, Shock, Pleural effusion, Pneumothorax, Acute infectious pneumonia, Pulmon... ORPHA:36238
Aspergillosis
Pneumonia, Pleural effusion, Stroke, Hypersensitivity pneumonitis, Intracranial hemorrhage, Pulmo... ORPHA:1163
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Hemochromatosis, Type 2B
Cardiomyopathy, Congestive heart failure, Hypogonadism, Hyperpigmentation of the skin, Secondary ... OMIM:613313
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ophthalmoparesis, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, ... ORPHA:1349
Interatrial Communication
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... ORPHA:1478
Meckel Syndrome, Type 8
Pericardial effusion, Occipital encephalocele, Encephalocele OMIM:613885
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi... OMIM:266200
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Carnitine Deficiency, Systemic Primary
Muscle weakness, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocardi... OMIM:212140
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Kaposiform Lymphangiomatosis
Epistaxis, Pleural effusion, Abnormal lymphatic vessel morphology, Pericardial effusion, Subconju... ORPHA:464329
Inherited Creutzfeldt-Jakob Disease
Central nervous system degeneration, Global brain atrophy, Stroke-like episode, Astrocytosis, Neu... ORPHA:282166
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Congestive heart failure, Myopathy, Death in infancy, Axial muscle weakn... ORPHA:157973
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr... OMIM:605814
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Chylous ascites, Pleural effusion, Nonimmu... OMIM:265300
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of muscles of respirati... ORPHA:52430
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration... OMIM:614300
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Abcd Syndrome
Abnormal auditory evoked potentials, Polycythemia, Hearing impairment, Neonatal death, Aganglioni... OMIM:600501
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Rickets, Hypocholesterolemia, Splenomegaly, Cirrh... OMIM:607765
Follicular Lymphoma
Pleural effusion, Lymphedema ORPHA:545
Hadziselimovic Syndrome
Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pu... OMIM:612946
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Supernumerary nipple, Tricuspid regurgitation, Atrioventricular canal defect, Low posterior hairl... OMIM:618929
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Aplasia of posterior communicating artery, Myelomeningocele, Situs i... OMIM:613686
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t... ORPHA:64743
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Congestive heart failure, Noncompaction cardiomyopathy, Atrial septal def... OMIM:610198
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... ORPHA:232
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Situs inversus totalis, Chronic bronchitis, Heterotaxy, Recurrent respirator... OMIM:613807
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Arterial stenosis, Carotid artery calcification... OMIM:208000
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Congestive heart failure, Neck muscle weakness, Facial myokymia, Generali... OMIM:606703
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... OMIM:263300
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Biliary Atresia, Extrahepatic
Portal fibrosis, Unconjugated hyperbilirubinemia, Increased total bilirubin, Atretic gallbladder,... OMIM:210500
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hep... ORPHA:247598
Progressive Non-Fluent Aphasia
Astrocytosis, Temporal cortical atrophy, Frontotemporal cerebral atrophy, Senile plaques ORPHA:100070
Cholestasis, Benign Recurrent Intrahepatic, 1
Hearing impairment, Intermittent jaundice, Increased serum bile acid concentration, Pancreatitis,... OMIM:243300
Familial Infantile Bilateral Striatal Necrosis
Upper limb muscle weakness, Lower limb muscle weakness, Astrocytosis, Atrophy/Degeneration involv... ORPHA:225154
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Congenital Myopathy 11
Patent foramen ovale, Weakness of facial musculature, Atrial septal defect, Polyhydramnios, Paten... OMIM:619967
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
Giant Cell Arteritis
Vasculitis, Epistaxis, Alopecia, Ophthalmoparesis, Aortic dissection, Double outlet right ventric... ORPHA:397
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Prelingual sensorineural hearing impairment, Clinodactyly, Congenita... ORPHA:73272
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal heart morphology, Atrioventricular canal defect, Increased nuchal translucency, Pleural ... ORPHA:453499
Timothy Syndrome
Pneumonia, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventric... OMIM:601005
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure ORPHA:91130
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm... ORPHA:1055
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Hypertension, Dextrocardia OMIM:613095
Meige Disease
Facial edema, Predominantly lower limb lymphedema, Lymphedema, Peripheral edema, Pleural effusion... ORPHA:90186
Cednik Syndrome
Stroke, Poor head control, Hypogonadism, Congestive heart failure ORPHA:66631
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Rickets, Extramedullary hematopoiesis, Cholestasis, Hyperbilirubinemia, Hep... ORPHA:79303
Albinism-Deafness Syndrome
Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism OMIM:300700
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... ORPHA:897
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Erdheim-Chester Disease
Congestive heart failure, Abnormal pericardium morphology, Pleural effusion, Joint swelling, Abno... ORPHA:35687
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Cholelithiasis, Rickets, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episo... OMIM:211600
Alkuraya-Kucinskas Syndrome
Arthrogryposis multiplex congenita, Pleural effusion, Camptodactyly, Pericardial effusion, Edema OMIM:617822
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Pate... OMIM:616276
Drug-Induced Lupus Erythematosus
Pericardial effusion, Prolonged QTc interval, Pericarditis ORPHA:231111
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Grange Syndrome
Aortic regurgitation, Arterial stenosis, Ventricular septal defect, Hypertension, Patent ductus a... ORPHA:79094
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Death in childhood... OMIM:611126
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Dilated cardiomyopathy, Muscle weakness, Cardiomyopathy, Abnormal EKG, Conges... OMIM:310200
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Skeletal muscle atrophy, Subdural hemorrhage, Inc... OMIM:620278
Avian Influenza
Pneumonia, Congestive heart failure, Pleural effusion, Rhabdomyolysis, Pneumothorax, Miscarriage ORPHA:454836
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Pparg-Related Familial Partial Lipodystrophy
Secondary amenorrhea, Prominent veins on trunk, Congestive heart failure, Hypertrophic cardiomyop... ORPHA:79083
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Global brain atrophy, Small nail, Ventricular septal defect, Hirsutism, Double outlet right ventr... OMIM:301056
Pontocerebellar Hypoplasia, Type 13
Long eyelashes, Pleural effusion, Low posterior hairline, Recurrent respiratory infections, Edema OMIM:618606
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... ORPHA:33445
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... OMIM:616867
Congenital Myopathy 22B, Severe Fetal
Generalized amyotrophy, Hypoplasia of the musculature, Pulmonary hypoplasia, Shoulder flexion con... OMIM:620369
14Q24.1Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, P... ORPHA:401935
Griscelli Syndrome Type 2
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni... ORPHA:79477
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... OMIM:618496
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... ORPHA:261183
Tularemia
Pneumonia, Tachycardia, Pleural effusion ORPHA:3392
Catel-Manzke Syndrome
Atrial septal defect, Camptodactyly of finger, Ventricular septal defect ORPHA:1388
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Oligohydramnios, Polyhydramnios, Hydrops fetalis, Pericarditis ORPHA:163596
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Abnormal aortic morphology, Congenital diaphragmatic hernia, Abnormality of ... ORPHA:1166
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ... ORPHA:998
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Paroxysmal atrial fibrillation, Atrioventricular ... ORPHA:392
Spherocytosis, Type 2
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... OMIM:616649
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Ventricular septal defect OMIM:614876
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Dilated cardiomyopathy, Sparse eyebrow, Congestive heart failure, Cardiomyocyte hypertr... OMIM:605676
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Oligohydramnios, Cardiomegaly, Perimembranous ventricular septal def... OMIM:620135
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... OMIM:182900
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reduced hapto... OMIM:611881
Renal Tubular Dysgenesis
Tetralogy of Fallot, Oligohydramnios, Polyhydramnios, Pulmonary hypoplasia ORPHA:3033
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, ... ORPHA:371428
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Alopecia universalis, Ventricular hypertrophy, Aortic root aneurysm, Conge... ORPHA:363618
Mosaic Trisomy 9
Camptodactyly of finger, Abnormal heart valve morphology, Abnormal lung lobation, Endocardial fib... ORPHA:99776
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy OMIM:620089
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn... ORPHA:3437
Chédiak-Higashi Syndrome
Iris hypopigmentation, Epistaxis, Hypopigmentation of the skin, Cerebellar atrophy, Spotty hyperp... ORPHA:167
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:300991
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Pleural effusion, Pulmonary edema, Arrhy... ORPHA:542323
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Stroke, Heart murmur, Dil... ORPHA:1054
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar atrophy, Muscle weakness, Cardiomyopathy, Stroke-like episode, Death in childhood, Dea... OMIM:212065
Tempi Syndrome
Ascites, Transudative pleural effusion, Telangiectasia, Abnormality of the pulmonary vasculature,... ORPHA:284227
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Coarse hair, Recurrent respiratory infections, Congestive heart failure, Hyp... OMIM:617303
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Dk1-Cdg
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Interstitial cardiac... ORPHA:91131
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Folate-resp... OMIM:601775
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Alg9-Cdg
Hypoplasia of the musculature, Cerebellar atrophy, Cerebral atrophy, Hypertrichosis, Tricuspid re... ORPHA:79328
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Skeletal muscle atrophy, Congestive heart failure, Ascites, Abnormal card... ORPHA:367
Familial Partial Lipodystrophy, Dunnigan Type
Secondary amenorrhea, Congestive heart failure, Hypertrophic cardiomyopathy, Atherosclerosis, Myo... ORPHA:2348
Muscular Dystrophy, Becker Type
Arrhythmia, Cardiomyopathy, Abnormal EKG OMIM:300376
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Neonatal hyperbilirubinemia, Abnormal erythrocyte morphology, Con... ORPHA:288
Barth Syndrome
Dilated cardiomyopathy, Fair hair, Congestive heart failure, Hypertrophic cardiomyopathy, Tricusp... OMIM:302060
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricu... ORPHA:66529
Ellis Van Creveld Syndrome
Abnormal hair morphology, Atrioventricular canal defect, Abnormal heart valve morphology, Abnorma... ORPHA:289
Waldenström Macroglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Congestive heart failure, ... ORPHA:33226
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Cerebral cortical atrophy, Astrocytosis, Neuronal loss in central nervous system OMIM:600795
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg... OMIM:603552
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Cellulitis, Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hep... OMIM:618986
Bachmann-Bupp Syndrome
Cupped ear, Small nail, Hyperbilirubinemia, Cryptorchidism, Sensorineural hearing impairment, Spa... OMIM:619075
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Increased total bilirubin ORPHA:890
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Hyperbilirubinemia... ORPHA:400
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Oligohydramnios, Situ... OMIM:615415
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Bardet-Biedl Syndrome 17
Hypogonadism, Bone spicule pigmentation of the retina, Situs inversus totalis, Dextrocardia OMIM:615994
Bile Acid Conjugation Defect 1
Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia, Rickets OMIM:619232
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Delayed ... ORPHA:95717
X-Linked Intellectual Disability, Nascimento Type
Abnormal hair whorl, Peripheral pulmonary artery stenosis, Lumbar hypertrichosis, Recurrent respi... ORPHA:163956
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida, Dextrocardia, Spina bifida occulta, Posterolateral diaphragmatic ... ORPHA:2437
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal lung lobation, Abnormal aortic morphology, Ventricular septal defect ORPHA:2516
Familial Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection... ORPHA:229
Chromosome 15Q14 Deletion Syndrome
Recurrent viral upper respiratory tract infections, Atrial septal defect, Ventricular septal defect OMIM:616898
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Tetralogy of Fallot, Congenital diaphragmatic hernia, Pulmonary arterial... OMIM:300887
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Decreased muscle mass, Decreased libido, Portal hyperte... ORPHA:465508
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Absent brai... OMIM:617519
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Increased total bilirubin OMIM:174050
Fabry Disease
Congestive heart failure, Lymphedema, Transient ischemic attack, Angina pectoris, Arrhythmia, Lef... OMIM:301500
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:608644
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Central nervous system degeneration, Hypopigmented skin patches, Congestive heart fai... ORPHA:183
Alg3-Cdg
Hypopigmentation of the skin, Cardiomyopathy, Subcortical cerebral atrophy, Coarctation of the de... ORPHA:79321
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Hypertrichosis, Hypertrophic cardiomyopathy, Abnormal heart valve morphol... OMIM:230500
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz... OMIM:300908
Muscular Dystrophy, Cardiac Type
Carnosinuria, Cardiomyopathy, Abnormal EKG OMIM:309930
Hereditary Butyrylcholinesterase Deficiency
Myocardial infarction, Congestive heart failure ORPHA:132
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia, Varicose veins, Peripheral arterial stenosis, Paten... OMIM:126320
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Lymphedema, Emphysema, Ascites, Pulmonary ... ORPHA:538
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Ventricular septal defect, Neonatal death, Dextrocardia... OMIM:619534
Gilbert Syndrome
Jaundice, Unconjugated hyperbilirubinemia OMIM:143500
Glycogen Storage Disease Vii
Cholelithiasis, Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentrati... OMIM:232800
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Encephalocele, Ventricular septal defect, Coarctation of ... OMIM:264480
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Fetal Cytomegalovirus Syndrome
Optic atrophy, Hepatitis, Splenomegaly, Sensorineural hearing impairment, Hepatomegaly, Thrombocy... ORPHA:294
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... ORPHA:2306
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso... ORPHA:71275
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Atrial septal defect, Camptodactyly, Arthrogryposis multiplex congenit... OMIM:614262
Johanson-Blizzard Syndrome
Alopecia, Death in infancy, Abnormal hair pattern, Abnormal cardiac septum morphology, Dextrocard... ORPHA:2315
Floating-Harbor Syndrome
Umbilical hernia, Long eyelashes, Mesocardia, Hirsutism, Low posterior hairline, Persistent left ... OMIM:136140
Hemochromatosis, Type 3
Cardiomyopathy, Lymphopenia, Hypogonadotropic hypogonadism, Cirrhosis, Neutropenia, Anemia OMIM:604250
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath... ORPHA:100024
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Th... ORPHA:848
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Marden-Walker Syndrome
Joint contracture of the hand, Congenital contracture, Decreased muscle mass, Dextrocardia, Campt... OMIM:248700
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Prominent superficial veins, Peripheral arteriovenous fistula, Conges... ORPHA:141179
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancytopenia, Neutropenia, Thrombocytop... ORPHA:859
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
Ring Chromosome 22 Syndrome
Toenail dysplasia, Lymphedema, Azoospermia, Thick eyebrow, Pleural effusion, Edema ORPHA:1446
Werner Syndrome
Neoplasm of the lung, Abnormal hair whorl, Skeletal muscle atrophy, Abnormal cerebral vascular mo... ORPHA:902
Xk Aprosencephaly Syndrome
Polyhydramnios, Atrial septal defect, Ventricular septal defect ORPHA:3469
Griscelli Syndrome Type 1
Iris hypopigmentation, Partial albinism, White hair, Premature graying of hair ORPHA:79476
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancy... ORPHA:398124
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Ovarian Hyperstimulation Syndrome
Generalized edema, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema, Capillary leak, ... ORPHA:64739
Noonan Syndrome 12
Tetralogy of Fallot, Supravalvular aortic stenosis, Polyhydramnios, Ventricular septal defect OMIM:618624
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Death in infancy, Ventricular septal defect, Atrophy/Degeneration af... OMIM:616277
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Cholestasis, Hyperbilirubinemia, Decreased... OMIM:609734
Li-Campeau Syndrome
Hypertrichosis, Thick eyebrow, Patent foramen ovale, Ventricular septal defect, Atrial septal def... OMIM:619189
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Ciliary Dyskinesia, Primary, 44
Heterotaxy, Bronchiectasis, Recurrent sinusitis OMIM:618781
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Common caro... OMIM:613834
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Proximal Spinal Muscular Atrophy
Proximal muscle weakness, Recurrent infections due to aspiration, Atrial septal defect, Quadricep... ORPHA:70
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Goiter, Sensorineural hearing impairm... ORPHA:95716
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure... ORPHA:324410
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, Abnormal cerebral artery... ORPHA:90065
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:603553
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Prominent superficial veins, Peripheral arteriovenous fistula, Conges... ORPHA:141184
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair OMIM:211390
Maternal Uniparental Disomy Of Chromosome X
Predominantly lower limb lymphedema, Hypopigmentation of the skin, Camptodactyly of finger, Conge... ORPHA:261519
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplastic iliac wing, Jaundice, Foot polydactyly, Bile duct proliferation, Polycystic liver dis... OMIM:208500
Ovarian Fibrothecoma
Ascites, Pleural effusion, Metrorrhagia, Hirsutism ORPHA:314478
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Recurrent pneumonia, Abnormal venous morphology, Decreased muscle mass, Cong... ORPHA:1900
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Bronchiectasis OMIM:615451
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Highly arched eyebrow, Sparse eyebrow, High anterior hairline, Secundum atrial septal defect, Ven... OMIM:600987
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral regurgitation, Mitral valve prolapse, Ventri... OMIM:612561
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Gorham-Stout Disease
Pleural effusion, Edema, Torticollis ORPHA:73
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cerebral atrophy, Abnormality of the hairline, Double outlet right ventricle, Atrial septal defec... OMIM:614886
Squalene Synthase Deficiency
Low-set ears, Slender long bone, Bilateral cryptorchidism, Hypocholesterolemia, Abnormality of ha... OMIM:618156
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Aortic dissection, Anterior cerebral artery stenosis, Coronary artery ather... OMIM:132900
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... OMIM:619802
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Partial atrioventricular canal defect, Ventricular septal defect, Atrial ... OMIM:615996
Autoimmune Lymphoproliferative Syndrome
Vasculitis, Chronic noninfectious lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia, Fol... OMIM:601859
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se... OMIM:618652
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Refsum Disease, Classic
Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia OMIM:266500
Cockayne Syndrome Type 3
Vascular calcification, Dry hair, Skeletal muscle atrophy, Subdural hemorrhage, Cardiomyopathy, P... ORPHA:90324
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Aspiration pneumonia, Tricuspid regurgitation, Left ventricular noncompac... OMIM:619167
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Pulmonary arterial hypertension, Abn... ORPHA:77261
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect OMIM:619881
Aicardi-Goutieres Syndrome 9
Edema, Ascites, Portal hypertension, Left ventricular hypertrophy, Pericardial effusion, Hyperten... OMIM:619487
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Atelectasis OMIM:615872
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Double outlet right ventricle, Aortic root aneurysm, Ventricular septal de... OMIM:616652
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Skeletal muscle atrophy, Angioedema, Congestive heart... ORPHA:3260
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Polyh... ORPHA:3405
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Facial edema, Pulmonary embolism, Edema, Anasarca, Ascites, Pleural effusion, Respiratory tract i... ORPHA:567546
Behçet Disease
Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ische... ORPHA:117
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:620032
American Trypanosomiasis
Periorbital edema, Cardiomyopathy, Congestive heart failure, Arrhythmia, Myocarditis, Edema ORPHA:3386
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Frontotemporal cerebral atrophy ORPHA:275864
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Third degree atrioventricular block, Anasarca, Biventricular hypertrophy,... OMIM:619573
Proximal 16P11.2 Microdeletion Syndrome
Abnormal heart morphology, Congenital diaphragmatic hernia, Abnormal aortic valve morphology, Atr... ORPHA:261197
Wolcott-Rallison Syndrome
Hypoalbuminemia, Exocrine pancreatic insufficiency, Abnormality of the liver, Hyperbilirubinemia,... ORPHA:1667
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Nathalie Syndrome
Abnormal EKG OMIM:255990
Polysyndactyly With Cardiac Malformation
Polyhydramnios, Stillbirth, Atrial septal defect, Ventricular septal defect OMIM:263630
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Right ventricular failure, Anasarca, Lymphedema, Pleural effusion, Constrict... ORPHA:90363
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Ventricular septal defect, Atrial septal defect, Tachyca... OMIM:613870
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... ORPHA:444013
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Fetal Encasement Syndrome
Tetralogy of Fallot, Bilateral trilobed lung, Congenital diaphragmatic hernia OMIM:613630
Zygomycosis
Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Atelectasis, Dilatation ... ORPHA:73263
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Jaundice, Steatorrhea OMIM:235555
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Neurodegeneration, Coarctation of aorta, Recurrent respiratory infections, Ventricular septal defect OMIM:620210
Phaver Syndrome
Camptodactyly of finger, Myelomeningocele, Ventricular septal defect, Coarctation of aorta, Pulmo... ORPHA:2876
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Ovarian Fibroma
Ascites, Pleural effusion ORPHA:314473
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Recurrent lower respiratory tract infections, Atrial septal defect, Muscle... OMIM:617744
Whim Syndrome 1
Abnormal female external genitalia morphology, Neutropenia, Abnormal morphology of female interna... OMIM:193670
Collagenoma, Familial Cutaneous
Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ... OMIM:115250
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Lower ... ORPHA:746
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Lipoyltransferase 1 Deficiency
Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin OMIM:616299
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Congenital Generalized Lipodystrophy
Hypertrichosis, Hypertrophic cardiomyopathy, Congestive heart failure, Low anterior hairline, Low... ORPHA:528
Tsh-Secreting Pituitary Adenoma
Decreased fertility in females, Female hypogonadism, Decreased fertility in males, Irregular mens... ORPHA:91347
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:618499
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Hyperbilirubinemia, Splenomegaly,... OMIM:613812
Monosomy 18Q
Aortic valve stenosis, Secundum atrial septal defect, Absence of the pulmonary valve, Congestive ... ORPHA:1600
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
14Q11.2 Microdeletion Syndrome
Highly arched eyebrow, Sparse lateral eyebrow, Melanocytic nevus, Ventricular septal defect, Pate... ORPHA:261120
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Nephronophthisis 16
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Patent ductus arterio... OMIM:615382
Systemic Lupus Erythematosus 17
Hypertensive crisis, Lymphopenia, Leukopenia, Mitral regurgitation, Raynaud phenomenon, Thrombocy... OMIM:301080
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology OMIM:615214
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Secondary amenorrhea, Congestive heart failure, Hypertrophi... ORPHA:280365
Bone Marrow Failure Syndrome 3
Aplastic anemia, Hearing impairment, Small nail, Persistence of hemoglobin F, Pancytopenia, Crypt... OMIM:617052
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Portal hypertension, Sclerosing cholang... OMIM:619662
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Ophthalmoparesis, Shoulder girdle muscle weakness, Patent foramen ovale, Myopathy, Progressive ex... OMIM:615156
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:212090
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... OMIM:602450
Lathosterolosis
2-3 toe cutaneous syndactyly, Intrahepatic cholestasis, Hepatic fibrosis, Postaxial foot polydact... OMIM:607330
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Situs inversus totalis, Recurrent sinusitis, Reduced progressive s... OMIM:620438
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... ORPHA:1913
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Rha... ORPHA:26791
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Aortic Valve Disease 2
Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Pa... OMIM:614823
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Congenital diaphragmatic hernia, Ventricular septal defect, Abnormal car... OMIM:614294
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne... OMIM:226990
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Absence of the pulmonary valve, Congestive heart failure, Umbilical hernia... OMIM:601808
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Pleural effusion, Atelectasis ORPHA:2902
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Right ventricular failure, Bundle branch block, Anomalous pulmonary venous return, Tra... ORPHA:99104
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig... OMIM:609040
Gm1 Gangliosidosis
Cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Camptodactyly of finger, Che... ORPHA:354
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Absent P wave, Elbow flexion contracture, Palpitations, Knee flexion cont... OMIM:310300
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Fatigable weakness... ORPHA:99901
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Aortic root aneurysm, Aortic dissection, Congestive heart failure, Hypert... ORPHA:3342
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Abnormal circulating lipid conce... ORPHA:186
Cholestasis, Progressive Familial Intrahepatic, 5
Ascites, Pleural effusion, Death in infancy, Nonimmune hydrops fetalis OMIM:617049
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Tiger tail banding, Slow-growing hair, Brittle hair, Increased HbA2 hem... OMIM:616943
Mucopolysaccharidosis, Type Ii
Recurrent pneumonia, Hypertrichosis, Abnormal heart valve morphology, Congestive heart failure, U... OMIM:309900
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persis... OMIM:609008
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Prune Belly Syndrome
Recurrent respiratory infections, Tetralogy of Fallot, Oligohydramnios, Ventricular septal defect... ORPHA:2970
Aicardi-Goutieres Syndrome 7
Pneumonia, Vasculitis, Hematochezia, Cerebellar atrophy, Cerebral atrophy, Hypertrophic cardiomyo... OMIM:615846
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Emphysema, ... OMIM:123700
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, Pulmonary ... ORPHA:277
Floating-Harbor Syndrome
Tetralogy of Fallot, Mesocardia, Persistent left superior vena cava, Coarctation of aorta, Atrial... ORPHA:2044
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529808
Ciliary Dyskinesia, Primary, 16
Pulmonary insufficiency, Situs inversus totalis, Bronchiectasis OMIM:614017
Maternal Phenylketonuria
Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect... ORPHA:2209
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Muscle weakness, Hypertrophic cardiomyopathy, Respiratory tract infection, Shortene... ORPHA:308552
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Pulmonary artery atresia, Cerebral atrophy, Umbili... OMIM:618164
Neuraminidase Deficiency
Cardiomyopathy, Urinary excretion of sialylated oligosaccharides, Ascites, Increased urinary O-li... OMIM:256550
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Atrial septal defect, Hypertension, Pu... OMIM:610205
Immunodeficiency 95
Lymphopenia OMIM:619773
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Recurrent upper respiratory tract infections, Congestive heart failure, Umb... ORPHA:423461
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Conjugate... OMIM:601847
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Gastrointestinal hemorrhage, Vasculitis, Chronic noninfectious lymphadenopathy, Spleno... OMIM:603909
Diabetic Embryopathy
Spinal dysraphism, Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary ... ORPHA:1926
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Abnormality of the thenar eminence, Abnormal tendon morphology, Cong... ORPHA:85446
Congenital Erythropoietic Porphyria
Osteopenia, Facial hypertrichosis, Hypopigmentation of the skin, Leukopenia, Erythroid hyperplasi... ORPHA:79277
Congenital Rubella Syndrome
Patent ductus arteriosus, Atrial septal defect, Abnormality of the pulmonary artery, Ventricular ... ORPHA:290
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Congestive heart failure, Pulmonary edema, Pericardial effusion, Sudden c... ORPHA:73224
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele... OMIM:616738
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Recurrent respiratory infections, Congestive heart failure, Hypertrophic cardiomyop... ORPHA:505248
Congenital Bile Acid Synthesis Defect Type 3
Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Cirrhosis, Jaundice, Bile duct proliferation ORPHA:79302
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronodular cirrh... OMIM:251880
Ciliary Dyskinesia, Primary, 27
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... OMIM:615504
Simple Cryoglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart morphology, Str... ORPHA:91139
Hellp Syndrome
Generalized edema, Hypotension, Pleural effusion, Pulmonary edema, Internal hemorrhage, Cerebral ... ORPHA:244242
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leuk... OMIM:612840
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Ventricular septal defect, ... ORPHA:1727
Keutel Syndrome
Recurrent sinusitis, Ventricular septal defect, Pulmonary artery stenosis, Pulmonary arterial hyp... ORPHA:85202
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Frontal balding, Contractures of the large joints, Abnormal heart morp... ORPHA:96092
Pneumocystosis
Interstitial pneumonitis, Multiple pulmonary cysts, Pleural effusion, Acute infectious pneumonia ORPHA:723
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Second degree atrioventricular block, Ascites, Oligohydramnios, Ventricular septal defect, Nonimm... OMIM:617021
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Osteopenia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal... ORPHA:14
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Attrv30M Amyloidosis
Nephropathy, Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal renal phy... ORPHA:85447
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy, Dilated cardiomyopathy, Congestive heart failure, Rhabdomyolysis, Myopath... OMIM:609015
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... ORPHA:231222
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect OMIM:615502
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Aortic valve stenosis, Highly arched eyebrow, Chylothorax, Fine hair, Lymphedema, Mitral regurgit... OMIM:613563
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... ORPHA:91547
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Congestive heart failure, Emphysema, D... ORPHA:90349
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... OMIM:619343
Erythrocytosis, Familial, 1
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob... OMIM:133100
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... OMIM:615505
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:618974
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Joint contracture of the hand, Congenital contracture, Umbilical hernia, A... ORPHA:352490
Developmental And Epileptic Encephalopathy 18
Aortic regurgitation, Oligohydramnios, Polyhydramnios, Atrial septal defect OMIM:615476
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis ORPHA:713
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Chylothorax, Lymphedema, Abnormal hair morphology, Leukonychia, Pleural effusion, Abnormality of ... ORPHA:2526
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Nail dystrophy, Ventricular septal defect, Pulmonary artery stenosis, Atri... ORPHA:75389
Griscelli Syndrome
Silver-gray hair, Iris hypopigmentation, Bone marrow hypocellularity, Hepatitis, Hypopigmented sk... ORPHA:381
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Low-set ears, Tapered toe, Elevated circulating long chain fatty acid concentration, Increased to... OMIM:608836
Chromosome 5Q12 Deletion Syndrome
Hypotension, Increased nuchal translucency, Patent foramen ovale, Ventricular septal defect, Atri... OMIM:615668
20Q13.33 Microdeletion Syndrome
Hematochezia, Abnormal cardiac ventricle morphology, Dilation of Virchow-Robin spaces, Oligohydra... ORPHA:261311
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Aortic root aneurysm, Mitral regurgitation, Ventricular septal defect, Low posterior hairline, At... OMIM:617506
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Cardiomyopathy, Coronary artery stenosis, Abnormality of the shoulder girdle mus... ORPHA:565612
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Umbilical... OMIM:600001
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp... OMIM:603903
Chondrodysplasia, Blomstrand Type
Fetal ascites, Preductal coarctation of the aorta, Stillbirth, Polyhydramnios, Hydrops fetalis OMIM:215045
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Abnormal heart morphology, Oligohydramnios, Increased nuchal translucency, Patent foramen ovale, ... OMIM:618494
Rh-Null, Amorph Type
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia OMIM:617970
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Conjugated hyperbi... ORPHA:95715
Myhre Syndrome
Aortic valve stenosis, Fine hair, Skeletal muscle hypertrophy, Pericardial effusion, Thick eyebro... OMIM:139210
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Death in infancy, Ventricular septal defect OMIM:613730
Primary Non-Essential Cutis Verticis Gyrata
Gliosis, Atrial septal defect, Ventricular septal defect ORPHA:357225
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Transposition of the great arteries, Ectopia cordis, Anencephaly... OMIM:313850
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231226
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Situs inversus totalis, Recurrent bronchitis, Recurrent sinusitis OMIM:613193
Down Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten... OMIM:190685
Ciliary Dyskinesia, Primary, 24
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:615481
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Clinodactyly, Absent antihelix, Metatarsus adductus, Aplasia/Hypopla... ORPHA:293939
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Sp... OMIM:314050
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Epistaxis, Hypotension, Subconjunctival hemorrhage, Muscle weakness, Shock, Palpitatio... ORPHA:340
Perlman Syndrome
Low-set ears, Abnormal pancreas morphology, Cryptorchidism, Hepatomegaly, Thickened helices, Post... ORPHA:2849
Autoimmune Hepatitis
Viral hepatitis, Increased total bilirubin, Vitiligo, Splenomegaly, Sclerosing cholangitis, Cirrh... ORPHA:2137
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Thanatophoric Dysplasia Type 2
Increased nuchal translucency, Encephalocele, Atrial septal defect, Aplasia/Hypoplasia of the lun... ORPHA:93274
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medial calcification of large arteries, Retinal hemorrhage, Coronary art... ORPHA:51608
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Nocardiosis
Pneumonia, Abnormal heart valve morphology, Emphysema, Pleural effusion, Pneumothorax, Pleuritis,... ORPHA:31204
Combined Oxidative Phosphorylation Deficiency 59
Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection fraction, Cerebral edema,... OMIM:620646
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 2 muscle fiber predominance, Congenital contracture, Chylothorax, Death in infancy, Type 1 m... OMIM:619036
Brucellosis
Pneumonia, Arteritis, Pulmonary granulomatosis, Bronchitis, Transient ischemic attack, Pleural ef... ORPHA:1304
Noonan Syndrome 1
Chylothorax, Lymphedema, Hypertrophic cardiomyopathy, Male infertility, Hypogonadism, Ventricular... OMIM:163950
Familial Mediterranean Fever
Pleuritis, Pleural effusion, Pericarditis OMIM:249100
Immunodeficiency 92
Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decreased proportion of class-switched memor... OMIM:619652
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Patent ductus arteriosus, Atrial septal defect, Dextrocardia OMIM:277380
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Classical-Like Ehlers-Danlos Syndrome Type 2
Alopecia, Aortic root aneurysm, Prominent veins on trunk, Umbilical hernia, Mitral valve prolapse... ORPHA:536532
Carney Complex, Type 1
Congestive heart failure, Multiple lentigines, Hirsutism, Cardiac myxoma, Freckling, Red hair, Pr... OMIM:160980
Mirror Movements 3
Situs inversus totalis OMIM:616059
Fryns Syndrome
Joint contracture of the hand, Chylothorax, Small nail, Facial hirsutism, Polyhydramnios, Ventric... OMIM:229850
Hennekam Syndrome
Chylothorax, Arteriovenous malformation, Camptodactyly of finger, Lymphedema, Ascites, Pulmonary ... ORPHA:2136
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, High anterior hairline, Muscle weakness, Conge... OMIM:182250
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkinson-White syndrome, Absent circ... OMIM:619705
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Increased QRS voltage, Abnormal pulse pressure... ORPHA:3093
Sarcoidosis, Susceptibility To, 1
Emphysema, Pleural effusion, Pulmonary arterial hypertension, Pericardial effusion, Abnormal pulm... OMIM:181000
Degcags Syndrome
Low-set ears, Toe syndactyly, Hearing impairment, Premature graying of hair, Cholestasis, Hepatos... OMIM:619488
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Low-set ears, Hearing impairment, Intrahepatic b... OMIM:208085
Sneddon Syndrome
Lymphopenia, Atrophic scars, Ischemic stroke, Bicuspid aortic valve, Cerebral hemorrhage, Hyperte... OMIM:182410
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, Camp... OMIM:301039
Amed Syndrome, Digenic
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Hypopl... OMIM:619151
Double Outlet Left Ventricle
Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, Bicuspid pulmonary ... ORPHA:3427
Pseudo-Torch Syndrome 3
Acute kidney injury, Lymphadenitis, Leukocytosis, Cardiomegaly, Proteinuria, Congenital thrombocy... OMIM:618886
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... ORPHA:79434
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231214
Intellectual Developmental Disorder, X-Linked 112
Abnormal heart morphology, Bicuspid aortic valve, Right aortic arch OMIM:301111
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair ORPHA:2221
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia, Hearing impairment ORPHA:101009
Atelis Syndrome 1
Bronchiectasis, Atrial septal defect, Ventricular septal defect OMIM:620184
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Pulm... OMIM:619149
Distal Duplication 5Q
Dextrocardia, Ventricular septal defect ORPHA:96097
Hutchinson-Gilford Progeria Syndrome
Premature coronary artery atherosclerosis, Congestive heart failure, Angina pectoris, Precocious ... OMIM:176670
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Patent ductus ... ORPHA:97214
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Glycogen Storage Disease Xv
Cardiomyocyte hypertrophy, T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibr... OMIM:613507
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hypotension, Abnormality of the spleen, Abnormality of the liver, Ly... ORPHA:79456
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Coffin-Siris Syndrome 5
Dystrophic toenail, Long eyelashes, Thick eyebrow, Hypoplastic toenails, Low anterior hairline, A... OMIM:616938
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Recurrent upper respiratory tract infections, Recurrent pneumonia, Umbilical hernia, Ventricular ... OMIM:619769
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... ORPHA:284169
Crimean-Congo Hemorrhagic Fever
Retinal hemorrhage, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Ascites, Hemot... ORPHA:99827
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid artery dilatation... ORPHA:91387
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Kagami-Ogata Syndrome
Diastasis recti, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal defect... OMIM:608149
Babesiosis
Recurrent pharyngitis, Myocardial infarction, Congestive heart failure ORPHA:108
Noonan Syndrome 5
Sparse eyebrow, Small nail, Fine hair, Hypertrophic cardiomyopathy, Multiple lentigines, Arrhythm... OMIM:611553
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect OMIM:616816
Meckel Syndrome, Type 7
Aortic valve stenosis, Oligohydramnios, Situs inversus totalis, Portal hypertension, Patent ductu... OMIM:267010
Thanatophoric Dysplasia
Increased nuchal translucency, Atrial septal defect, Polyhydramnios, Patent ductus arteriosus, Pu... ORPHA:2655
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Right aortic arch OMIM:140850
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Hypocholesterolemia, Sensorineural hearing impa... OMIM:266510
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Lymphatic Malformation 13
Lymphedema, Ascites, Mitral regurgitation, Patent foramen ovale, Neonatal death, Nonimmune hydrop... OMIM:620244
Restrictive Dermopathy
Sparse eyebrow, Short nail, Pulmonary hypoplasia, Camptodactyly of finger, Small placenta, Sparse... ORPHA:1662
Ciliary Dyskinesia, Primary, 9
Pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:612444
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Congestive heart failure, Hypertrophic cardiomyopathy, Pneumothorax, Atr... OMIM:617403
Serkal Syndrome
Oligohydramnios, Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis, P... ORPHA:139466
Tetrasomy 15Q26
Camptodactyly, Hypoplastic aortic arch, Atrial septal defect, Patent ductus arteriosus OMIM:614846
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:615279
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Broad finger, Long eyelashes, Low posterior hairline, Optic ... OMIM:617523
Caroli Syndrome
Intrahepatic cholestasis, Hypersplenism, Leukopenia, Leukocytosis, Portal hypertension, Congenita... ORPHA:480520
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue... ORPHA:352731
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Congestive heart failure, Death in infancy, Left ventricular hypertrophy, Setting-sun eye phenome... OMIM:619355
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Congenital Tricuspid Stenosis
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... ORPHA:95459
Criss-Cross Heart
Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep... ORPHA:1461
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Secundum atrial septal defect, Cerebral atrophy, Hypertrichosis, Congest... OMIM:608779
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Cardiomyopathy, Cardiomyocyte hypertrophy, Palpitations, Ventricular sep... ORPHA:263297
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Situs inversus totalis, Encephalocele, Ventricular septal... ORPHA:1908
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Bone Dysplasia, Lethal Holmgren Type
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Atrial septal defect, Recurrent respirator... ORPHA:1842
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Dubin-Johnson Syndrome
Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundice, Conjugated hyperbili... ORPHA:234
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618935
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Conductive hearing impairment, Atresia of the external auditor... OMIM:300946
Distal Triplication 15Q
Abnormal heart morphology, Hypoplastic aortic arch, Atrial septal defect, Camptodactyly, Flexion ... ORPHA:314588
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG OMIM:178650
Suleiman-El-Hattab Syndrome
Highly arched eyebrow, Thick eyebrow, Patent foramen ovale, Hirsutism, Ventricular septal defect,... OMIM:618950
Peroxisome Biogenesis Disorder 5A (Zellweger)
Low-set ears, Abnormal helix morphology, Hearing impairment, Small nail, Cholestasis, Hepatosplen... OMIM:614866
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Low-set ears, Hip dysplasia, Hepatomegaly, Jaund... OMIM:613404
Ciliary Dyskinesia, Primary, 26
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... OMIM:615500
Distal Deletion 15Q
Hypoplastic left heart, Abnormal aortic arch morphology, Double outlet right ventricle with doubl... ORPHA:1596
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Mitral valve prolapse, V... OMIM:619472
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Subdural hemorrhage, Umbilical hernia, Arterial rupture, Myopathy, Bicus... ORPHA:536545
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Highly arched eyebrow, Cerebellar atrophy, Umbilical hernia, Long eyelashes, Patent foramen ovale... ORPHA:329224
Pentalogy Of Cantrell
Tetralogy of Fallot, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Encephaloc... ORPHA:1335
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Hepato... OMIM:557000
Mucolipidosis Ii Alpha/Beta
Myelopathy, Mitral regurgitation, Recurrent bronchitis, Death in childhood, Brittle hair, Sparse ... OMIM:252500
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Transaldolase Deficiency
Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Telangiectasia, Coarctation of ... OMIM:606003
Even-Plus Syndrome
Highly arched eyebrow, Oligohydramnios, Patent foramen ovale, Atrial septal defect, Sparse hair, ... OMIM:616854
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Cranioectodermal Dysplasia 2
Low-set ears, Clinodactyly, Cholestasis, Hyperbilirubinemia, Sparse eyelashes, Hepatomegaly, Spar... OMIM:613610
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia, Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Ma... OMIM:613070
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular septal defect, Polyhydramnios, Arthr... OMIM:607598
Hypermanganesemia With Dystonia 1
Polycythemia, Increased total iron binding capacity, Cirrhosis, Hypermanganesemia, Hepatomegaly, ... OMIM:613280
Renpenning Syndrome
Alopecia, Abnormal hairshaft morphology, Skeletal muscle atrophy, Thin eyebrow, Heterotaxy ORPHA:3242
Marden-Walker Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:2461
Wilson Disease
Hypouricemia, Osteomalacia, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Hypoparathyroidism,... OMIM:277900
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Temple-Baraitser Syndrome
Hypoplastic thumbnail, Absent nail of hallux, Atrial septal defect, Pulmonic stenosis, Absent thu... OMIM:611816
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Overriding aorta, Arteriovenous malformation ORPHA:1110
Kawasaki Disease
Vasculitis, Abnormal pulmonary interstitial morphology, Double outlet right ventricle with subpul... ORPHA:2331
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Abdominal situs ambiguus, Situs inversus totalis, Bronchiectasis OMIM:617092
3C Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:7
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent pneumonia, Umbilical hernia, Abnormal heart morphology, Patent foramen ovale, Ventricul... ORPHA:500159
Weill-Marchesani Syndrome
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Fanconi-Bickel Syndrome
Hypouricemia, Intrahepatic cholestasis, Rickets, Osteomalacia, Hyperbilirubinemia, Increased seru... OMIM:227810
20P12.3 Microdeletion Syndrome
Atrial septal defect, Wolff-Parkinson-White syndrome ORPHA:261295
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
Ciliary Dyskinesia, Primary, 18
Recurrent sinusitis, Abdominal situs ambiguus, Situs inversus totalis, Chronic bronchitis OMIM:614874
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Enamel hypomineralization, Iron deficiency anemia, Neutropenia, Thrombocytopenia, Increased mean ... ORPHA:494444
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Umbil... ORPHA:2255
Aymé-Gripp Syndrome
Cerebral cortical atrophy, Breast hypoplasia, Long eyelashes, Congenital diaphragmatic hernia, Ca... ORPHA:1272
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Muenke Syndrome
Coronal craniosynostosis, Cone-shaped epiphysis, Hypopigmented skin patches, Hypermelanotic macul... ORPHA:53271
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Cardiomyopathy, Congestive heart failure, Generalized limb muscle atrophy, Hand ... ORPHA:98908
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Splenomegaly, Autoimmune hemolyti... OMIM:301078
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Hydranencephaly, Ventricular septal defect OMIM:601355
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Giant cell hepatitis, Hyperbilirubinemia, Hepatomegaly, Prolonged neona... OMIM:214950
Leigh Syndrome
Alopecia, Skeletal muscle atrophy, Cerebellar atrophy, Hypertrichosis, Hypertrophic cardiomyopath... ORPHA:506
Legionnaires Disease
Cellulitis, Bone marrow hypocellularity, Hypotension, Hepatitis, Lymphopenia, Renal insufficiency... ORPHA:549
Martsolf Syndrome 1
Cardiomyopathy, Congestive heart failure, Low anterior hairline, Low posterior hairline, Abnormal... OMIM:212720
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Fryns Syndrome
Abnormal aortic arch morphology, Cerebral cortical atrophy, Hypoplastic fingernail, Tetralogy of ... ORPHA:2059
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Highly arched eyebrow, Joint contracture of the hand, Peripheral pulmonary artery stenosis, Spars... OMIM:280000
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Patent ductus arteriosus, Hypoplastic right heart, Atrial septal defect, Ventricular septal defect OMIM:618142
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cerebellar atrophy, Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly OMIM:619259
Methimazole Embryofetopathy
Polyhydramnios, Coarctation of aorta, Abnormal aortic morphology, Ventricular septal defect ORPHA:1923
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Recurrent pneumonia, Cerebellar atrophy, Elbow flexion contracture... OMIM:214150
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia OMIM:605479
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Oliguria, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, L... ORPHA:514
Joubert Syndrome With Ocular Defect
Highly arched eyebrow, Encephalocele, Dextrocardia ORPHA:220493
Tyshchenko Syndrome
Supernumerary nipple, Ventricular septal defect, Low anterior hairline, Atrial septal defect, Thi... OMIM:615102
Waardenburg Syndrome Type 3
Atelectasis, White hair, Camptodactyly of finger, Thick eyebrow, Atrial septal defect ORPHA:896
Contractural Arachnodactyly, Congenital
Calf muscle hypoplasia, Aortic root aneurysm, Elbow flexion contracture, Mitral regurgitation, Hi... OMIM:121050
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Atrioventricular canal ... ORPHA:251071
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Hypoplastic thumbnail, Hypoplastic fingernail, Hypoplastic fifth fingernail, Hypoplastic toenails... OMIM:619356
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short 5th finger, Toe clinodactyly, Aplasia/Hypoplasia of the nails, Hyperbilirubinemia, Bulbous ... ORPHA:163979
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Global brain atrophy, Cerebral atrophy, Camptodactyly of finger, Ventric... OMIM:616920
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperbilirubinemia, Absent gallbladder, Bil... OMIM:615710
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Xerostomia, Congestive heart failure, Telangiectasia of the skin, Pulmonary ... ORPHA:220393
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chro... ORPHA:98849
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Fabry Disease
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc... ORPHA:324
Mucopolysaccharidosis Type 1
Abnormal tendon morphology, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart... ORPHA:579
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Anemia, Hypochromia, Poikilocytosi... OMIM:615234
Al Amyloidosis
Abnormal cardiac ventricle morphology, Howell-Jolly bodies, Gastrointestinal hemorrhage, Abnormal... ORPHA:85443
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Genital ulcers, Thrombocytopenia OMIM:616744
Agnathia-Otocephaly Complex
Polyhydramnios, Situs inversus totalis, Secundum atrial septal defect, Pulmonary hypoplasia OMIM:202650
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi... OMIM:619910
Leptospirosis
Hypotension, Pulmonary hemorrhage, Pleural effusion, Rhabdomyolysis, Arrhythmia, First degree atr... ORPHA:509
Thrombocytopenia 5
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thromb... OMIM:616216
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Arrhythmia, Pericar... ORPHA:727
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Vasculitis, Leukocytosis, Increased proportion of CD4-positive T cells, Lipodystrophy, Lymphadeno... OMIM:617099
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Shwachman-Diamond Syndrome 1
Proximal femoral epiphysiolysis, Persistence of hemoglobin F, Exocrine pancreatic insufficiency, ... OMIM:260400
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Tricuspid regurgitation, Increased nuchal translucency, Patent foramen ovale, Ventricular septal ... OMIM:618870
Hyperkalemic Periodic Paralysis
Ophthalmoparesis, Skeletal muscle atrophy, Congestive heart failure, Death in early adulthood, Ep... ORPHA:682
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
High anterior hairline, Abnormal heart morphology, Muscular ventricular septal defect, Endometrio... ORPHA:363444
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric... OMIM:618901
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Death in infancy ORPHA:93946
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Hypertensive crisis, Generalized edema, Edema, Pleuritis, Respiratory tract infection,... ORPHA:544482
Intrahepatic Cholestasis Of Pregnancy
Abnormal pineal melatonin secretion, Hyperbilirubinemia, Cholecystitis, Increased serum bile acid... ORPHA:69665
Cardiogenic Shock
Impaired myocardial contractility, Hypotension, Oliguria, Right ventricular failure, Abnormal lef... ORPHA:97292
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Pulmonary arterial hypertension, Coarctation of aorta, Atrial septal de... OMIM:614857
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Seizures-Scoliosis-Macrocephaly Syndrome
Polyhydramnios, Atrial septal defect ORPHA:466926
Cryptococcosis
Pneumonia, Cerebral cortical atrophy, Nodular pattern on pulmonary HRCT, Limb muscle weakness, Pl... ORPHA:1546
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD... ORPHA:331206
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Recurrent pneumonia, Recurrent sinusitis, Atrial septal defect, Recurrent respiratory i... OMIM:618282
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Chediak-Higashi Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Hemophagocytosis, Ocular a... OMIM:214500
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Filippi Syndrome
Cerebellar atrophy, Hypertrichosis, Ventricular septal defect, Frontal hirsutism, Sparse hair OMIM:272440
Seckel Syndrome 10
Ventricular hypertrophy, Abdominal aortic aneurysm, Hypertension, Congestive heart failure OMIM:617253
Rh-Null, Regulator Type
Jaundice, Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia OMIM:268150
Marfan Syndrome
Aortic regurgitation, Arterial dissection, Spontaneous pneumothorax, Skeletal muscle atrophy, Aor... ORPHA:558
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Premature graying of hair, Abnormal hair morph... ORPHA:79474
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:94080
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Restrictive cardiomyopathy, Mitral regurgitation, Patent foramen ovale, Camptodactyly, ... ORPHA:88630
Emanuel Syndrome
Aortic valve stenosis, Oligohydramnios, Congenital diaphragmatic hernia, Recurrent sinusitis, Ven... OMIM:609029
Atrial Septal Defect 9
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Hypoplastic aortic arch, Meningocele, Ventricular septal defect OMIM:620511
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis OMIM:616481
Immunodeficiency 114, Folate-Responsive
Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, Hepatomegaly OMIM:620603
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Congenital Disorder Of Glycosylation, Type Iic
Cellulitis, Reduction of neutrophil motility, Neutrophilia OMIM:266265
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:620197
Ogden Syndrome
Cardiogenic shock, Fine hair, Cerebral atrophy, Ventricular septal defect, Pulmonary artery steno... ORPHA:276432
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Splenomegaly, Osteopetrosis, Hepatomegaly, Hypopigmentation of hair... OMIM:618541
Microphthalmia, Syndromic 2
Aortic valve stenosis, Umbilical hernia, Hypoplastic aortic arch, Mitral valve prolapse, Ventricu... OMIM:300166
Seckel Syndrome 9
Pulmonary artery hypoplasia, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial s... OMIM:616777
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis OMIM:612650
Nephronophthisis 2
Oligohydramnios, Situs inversus totalis, Pulmonary insufficiency, Hypertension, Pulmonary hypoplasia OMIM:602088
Ceroid Lipofuscinosis, Neuronal, 7
Neurodegeneration, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy OMIM:610951
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Renal insufficiency, Eosinophilia, Lymphocytosis, Lymphadenopathy, Myocarditis, Nephro... ORPHA:139402
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... ORPHA:79431
Tetrasomy 9P
Pulmonary hypoplasia, Umbilical hernia, Juxtaductal coarctation of the aorta, Abnormal mitral val... ORPHA:3310
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Truncus arteriosus, Portal hypertension, Ventricular septal defect OMIM:616589
Teebi Hypertelorism Syndrome 1
Pulmonary hypoplasia, Aortic root aneurysm, Atrial septal defect, Ventricular septal defect OMIM:145420
Coccidioidomycosis
Pneumonia, Vasculitis, Vasospasm, Exudative pleural effusion, Cerebral ischemia, Pleural empyema,... ORPHA:228123
Schuurs-Hoeijmakers Syndrome
Highly arched eyebrow, Long eyelashes, Patent foramen ovale, Low anterior hairline, Bicuspid aort... OMIM:615009
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Intrahepatic cholestasis, Hyperbilirubinemia, Increased serum bile acid concentration, Bilateral ... OMIM:619685
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... OMIM:246700
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:266120
Microcephaly-Capillary Malformation Syndrome
Abnormal hair whorl, Small nail, Cerebral atrophy, Patent foramen ovale, Ventricular septal defec... OMIM:614261
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Pancytopenia, Splenomegaly, Anemia, Panniculitis OMIM:618398
Mosaic Trisomy 16
Abnormal heart morphology, Large placenta, Ventricular septal defect, Single coronary artery orig... ORPHA:1708
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Highly arched eyebrow, Aortic root aneurysm, Congestive heart failure, Abnormal heart morphology,... ORPHA:444077
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Noonan Syndrome 2
Mitral valve prolapse, Ventricular septal defect, Low posterior hairline, Bicuspid aortic valve, ... OMIM:605275
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice OMIM:613977
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Dilated cardiomyopathy, Skeletal muscle atrophy, Cardiomyopathy, Congestive heart f... OMIM:615895
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Leuko... ORPHA:53035
Rubinstein-Taybi Syndrome 1
Facial hypertrichosis, Frontal upsweep of hair, Mitral valve prolapse, Ventricular septal defect,... OMIM:180849
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent r... OMIM:608647
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Mitral regurgitation, Neutropenia, Hepatomegaly,... OMIM:612541
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... OMIM:277000
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Acrocardiofacial Syndrome
Cerebral cortical atrophy, Camptodactyly of finger, Tetralogy of Fallot, Long eyelashes, Mitral s... ORPHA:2008
Graft Versus Host Disease
Hemophagocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Lymphadenopathy, Chronic hepatitis, Acu... ORPHA:39812
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Splenomegaly, Otit... OMIM:613179
Developmental And Epileptic Encephalopathy 90
Limb hypertonia, Atrial septal defect OMIM:301058
Tatton-Brown-Rahman Syndrome
Aortic root aneurysm, Umbilical hernia, Tricuspid regurgitation, Mitral regurgitation, Supraventr... ORPHA:404443
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:210122
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Acrodysostosis 2 With Or Without Hormone Resistance
Cone-shaped epiphysis, Fair hair, Cryptorchidism, Brachydactyly, Short metatarsal, Blue irides, R... OMIM:614613
Kikuchi-Fujimoto Disease
Vasculitis, Alopecia, Palpebral edema, Pleural effusion, Vasculitis in the skin, Myocarditis, Abn... ORPHA:50918
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Cerebral atrophy, Facial hypotonia, Mitral regurgitation, Patent foramen ovale, Mitral valve prol... OMIM:615539
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Increased circulating prolactin conce... ORPHA:90674
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Disabling Pansclerotic Morphea Of Childhood
Lymphopenia, Neutropenia, Joint contracture OMIM:620443
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... ORPHA:755
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertrophic cardiomyopathy, Astrocytosis, Portal hypertension, Hypomimic face ORPHA:309854
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Hepatic fibrosis, Intrahepatic cholestasis, Hepatic steatosis, Hyperammonemia, S... OMIM:617093
Trichothiodystrophy 4, Nonphotosensitive
Sparse hair, Cerebral cortical atrophy, Small nail, Trichorrhexis nodosa, Decreased fertility, Na... OMIM:234050
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... OMIM:242700
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Umbilical hernia, Abnormal heart morphology, Hirsutism, Camptodact... OMIM:175700
Primary Sclerosing Cholangitis
Spider hemangioma, Palmar telangiectasia, Congestive heart failure, Ascites, Portal hypertension,... ORPHA:171
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Situs inversus totalis, Chronic bronchitis, Recurrent respiratory infections... OMIM:613808
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Oligohydramnios, Ventricular septal defect, Cardi... OMIM:617022
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Situs inversus totalis, Congenital diaphragm... ORPHA:991
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... OMIM:203100
Noonan Syndrome 9
Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect OMIM:616559
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect ORPHA:2476
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Oligohydramnios, Situs inversus totalis, Portal hypertension, Neonatal dea... OMIM:208540
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Abnormal lung lobation, Ventricular septal defect, Coarctation of aorta, Su... OMIM:614114
Trisomy X
Premature ovarian insufficiency, Secondary amenorrhea, Atrial septal defect, Ventricular septal d... ORPHA:3375
Gitelman Syndrome
Prominent U wave, Abnormal T-wave, Pericardial effusion, Palpitations, Rhabdomyolysis, ST segment... ORPHA:358
Proteasome-Associated Autoinflammatory Syndrome 4
Generalized lipodystrophy, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomega... OMIM:619183
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent upper respiratory tract infections, Medial calcification of large arteries, Congestive ... ORPHA:391487
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Anemia, Lipodystrophy, Lymphadenopathy, Thrombocytopenia, Hepatomegaly... OMIM:617591
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Ventricular septal defect, Gliosis, Cerebellar gliosis, Recurrent aspiration pn... ORPHA:79243
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Portal hypertension, Hepatic steatosis, Splenomegaly, Hyperlipi... ORPHA:567983
Carpenter Syndrome 2
Highly arched eyebrow, Sparse eyebrow, Supernumerary nipple, Tricuspid regurgitation, Umbilical h... OMIM:614976
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Cystic pattern on pulmonary HRCT, Ventricular septal defect, Atrial septal defect, R... OMIM:610978
Peroxisome Biogenesis Disorder 13A (Zellweger)
Intrahepatic cholestasis, Increased circulating very long-chain fatty acid concentration, Reduced... OMIM:614887
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... OMIM:614935
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Multiple lentigines, Atherosclerosis, Transient ischemic attack, Ischem... ORPHA:1830
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Holt-Oram Syndrome
Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Sinus bradycardia, Ve... OMIM:142900
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal test... ORPHA:54251
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Lymphopenia, Polycystic ovaries, Telangiectasia of the skin, Ab... ORPHA:100
Aceruloplasminemia
Decreased circulating iron concentration, Abnormal pancreas morphology, Increased circulating fer... ORPHA:48818
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 3rd finger, Double outlet right ventricl... OMIM:618223
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure OMIM:229300
Charge Syndrome
Secundum atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Right aortic arch, Ventricu... OMIM:214800
Fusariosis
Pneumonia, Pleural effusion, Myositis, Lung abscess, Hypersensitivity pneumonitis, Bronchiectasis ORPHA:228119
Immunodeficiency 44
Lymphopenia OMIM:616636
Elliptocytosis 2
Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Recurrent sinusitis OMIM:612518
Catel-Manzke Syndrome
Umbilical hernia, Ventricular septal defect, Overriding aorta, Coarctation of aorta, Dextrocardia... OMIM:616145
Cyclic Neutropenia
Cellulitis, Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Per... ORPHA:2686
Sarcoidosis
Alopecia, Hypopigmentation of the skin, Chylothorax, Emphysema, Abnormal pleura morphology, Porta... ORPHA:797
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Cerebellar atrophy, Ventricular septal defect OMIM:618506
46,Xy Sex Reversal 3
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... OMIM:612965
Diamond-Blackfan Anemia 4
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Atrial septal defect, Neutropenia OMIM:612527
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Pulmonary fibrosis, Secundum atrial septal defect OMIM:611926
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Ebstein Anomaly
Atrial standstill, Ebstein anomaly of the tricuspid valve, Right bundle branch block, Atrial sept... OMIM:224700
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy, Spontaneous pneumothorax, Lower limb muscle weakness, Pleural effusion, P... OMIM:606721
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Stroke, Congestive heart failure ORPHA:3077
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent pneumonia, Secundum atrial septal defect,... OMIM:614868
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Aortic root aneurysm, Tricuspid regurgitation, Abnormal heart valve morphol... ORPHA:230851
46,Xy Sex Reversal 11
Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female... OMIM:273250
Mogs-Cdg
Optic atrophy, Alopecia, Fair hair, Hepatosplenomegaly, Overlapping fingers, Long eyelashes, Sens... ORPHA:79330
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... ORPHA:466677
Tafro Syndrome
Ascites, Pleural effusion, Anasarca ORPHA:457077
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Abnormal heart morphology, Large placenta, Diastasis recti, Ventricular septal ... ORPHA:254534
Potocki-Lupski Syndrome
EEG abnormality, Hypocholesterolemia, Hearing impairment OMIM:610883
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormality of the liver, Hyperbilirubinemia, Hip contracture, Osteolysis involving bones of the ... ORPHA:464321
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Ventricular septal defect OMIM:209770
Diets-Jongmans Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Heterotaxy, Ventricular septal defect, Interru... OMIM:618846
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Highly arched eyebrow, Hypoplastic toenails, Ventricular septal defect ORPHA:94066
Tatton-Brown-Rahman Syndrome
Horizontal eyebrow, Umbilical hernia, Tricuspid regurgitation, Thick eyebrow, Mitral regurgitatio... OMIM:615879
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Conjugated hyperbilirubinemia OMIM:619484
Costello Syndrome
Cerebral cortical atrophy, Hypertrophic cardiomyopathy, Abnormal hair morphology, Abnormal finger... ORPHA:3071
Emanuel Syndrome
Aortic valve stenosis, Cerebral atrophy, Hypogonadism, Oligohydramnios, Congenital diaphragmatic ... ORPHA:96170
Congenital Heart Defects And Skeletal Malformations Syndrome
Aortic root aneurysm, Congenital diaphragmatic hernia, Ventricular septal defect, Coarctation of ... OMIM:617602
Lymphangiectasia, Intestinal
Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly, Brachydactyly, Jaundice, Conjug... ORPHA:168577
Megalencephaly
Atrial septal defect ORPHA:2477
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Low-set ears, Hyperbilirubinemia, Cryptorch... OMIM:210710
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Bilateral lung agenesis, Oligohydramnios, Congenital di... OMIM:611812
Aarskog-Scott Syndrome
High anterior hairline, Umbilical hernia, Camptodactyly of finger, Congestive heart failure ORPHA:915
Encephalocraniocutaneous Lipomatosis
Alopecia, Peripheral pulmonary artery stenosis, Linear hyperpigmentation, Ventricular septal defe... OMIM:613001
Vici Syndrome
Dilated cardiomyopathy, Hypopigmentation of the skin, Cardiomyopathy, Congestive heart failure, O... OMIM:242840
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613266
Intellectual Developmental Disorder, Autosomal Dominant 48
Highly arched eyebrow, Recurrent pneumonia, Umbilical hernia, Ventricular septal defect, Bicuspid... OMIM:617751
Trisomy 13
Abnormal lung lobation, Ventricular septal defect, Atrial septal defect, Hydrops fetalis, Patent ... ORPHA:3378
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Sparse eyebrow, Parietal cortical atrophy, Patent foramen ovale, Atrial septal defect, Curly hair... OMIM:620075
Autosomal Dominant Severe Congenital Neutropenia
Cellulitis, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Mono... ORPHA:486
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Congenital hip dislocation, Decreased motor nerve conduction velocity, Exocrine pancreatic insuff... ORPHA:456312
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso... OMIM:618278
Isolated Biliary Atresia
Periportal fibrosis, Cholestasis, Hypopituitarism, Atretic gallbladder, Xanthelasma, Splenomegaly... ORPHA:30391
Atransferrinemia
Congestive heart failure OMIM:209300
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal o... ORPHA:90673
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Marfan Syndrome
Aortic regurgitation, Mitral annular calcification, Aortic root aneurysm, Aortic dissection, Decr... OMIM:154700
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect OMIM:620211
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Anasarca, Cerebral atrophy, Ascites, Cerebral cortical neurodegeneration, Ast... OMIM:203700
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Umbilical hernia ORPHA:1035
Knobloch Syndrome
Abnormal hair morphology, Occipital encephalocele, Patent ductus arteriosus, Dextrocardia ORPHA:1571
Zechi-Ceide Syndrome
Abnormal heart morphology, Small nail, Atrial septal defect, Thick hair ORPHA:217017
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Hypocholesterolemia, Neonatal death, Brittle hair, Hepatomegaly, Hydrocele testis OMIM:618810
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Stomatocytosis, Splenomegaly, Conjugated hyperbilirubinemia, Hepatomegaly, Jaundice, Hyperkalemia... OMIM:608885
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Highly arched eyebrow, Aortic regurgitation, Cerebral cortical atrophy, Te... ORPHA:96147
Tetrasomy 5P
Congestive heart failure, Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdominal wa... ORPHA:3309
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Irregular epiphyses, Sensorineural hearing impairment, Optic... OMIM:619260
17Q12 Microduplication Syndrome
Polyhydramnios, Atrial septal defect ORPHA:261272
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, Atrial septal defect, Pulmonic stenosis, Umbilical hernia OMIM:618205
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Umbilical hernia, Tetralogy of Fallot, Frontal upsweep of hair, Patent fo... OMIM:612582
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Cerebral atrophy, Congestive heart failure, Oligohydramnios, Myopathy, D... OMIM:615512
Roifman Syndrome
Noncompaction cardiomyopathy, Recurrent pneumonia, Hip contracture, Ventricular septal defect OMIM:616651
Dohle Bodies And Leukemia
Secundum atrial septal defect, Lymphedema OMIM:223350
White Forelock With Malformations
Spina bifida occulta, White forelock, Atrial septal defect ORPHA:2475
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Cholestasis, Hyperbilirubinemia, Microvesicular hepatic stea... OMIM:617156
Noonan Syndrome 13
Highly arched eyebrow, Hypertrichosis, Multiple lentigines, Lymphedema, Mitral regurgitation, Mit... OMIM:619087
Spinal Arteriovenous Metameric Syndrome
Spinal arteriovenous malformation, Arteriovenous malformation, Congestive heart failure ORPHA:53721
Transketolase Deficiency
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,... ORPHA:488618
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatitis, Lymphopenia, Hepatosplenomegaly, Eosinophilia, Decreased proportion of CD3-positive T ... ORPHA:169160
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Congestive heart failure, Elbow flexion contracture, Umbilical hernia, Mit... OMIM:608328
Colchicine Poisoning
Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Dehydration, H... ORPHA:31824
Hardikar Syndrome
Hepatic fibrosis, Pigmentary retinopathy, Portal inflammation, Intrahepatic bile duct cysts, Mild... OMIM:301068
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification, Hypoplastic left heart, ... ORPHA:402075
Fanconi Anemia, Complementation Group B
Abnormal lung lobation, Death in infancy, Ventricular septal defect, Coarctation of aorta, Patent... OMIM:300514
Adams-Oliver Syndrome
Alopecia, Gastrointestinal hemorrhage, Arteriovenous malformation, Hypoplastic fingernail, Tetral... ORPHA:974
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Increased circulating ferritin concentration, Absent brainstem auditory responses, Thrombocytopen... ORPHA:3240
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Frank-Ter Haar Syndrome
Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o... OMIM:249420
Cockayne Syndrome B
Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Square pelvis bone, D... OMIM:133540
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Arteriovenous malformation, Venous insufficiency, Congestive heart failure ORPHA:137608
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Graves Disease
Onycholysis, Muscle weakness, Congestive heart failure OMIM:275000
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Cerebral atrophy, Hypertrophic cardiomyopathy, Neurodegeneration... ORPHA:391428
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Hypopigmented skin patches, Decreased nerve conduction velocity, Hepatospleno... OMIM:609136
Cat Eye Syndrome
Hypoplastic left heart, Total anomalous pulmonary venous return, Umbilical hernia, Tetralogy of F... OMIM:115470
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, Th... ORPHA:449400
Supranuclear Palsy, Progressive, 1
Neurofibrillary tangles, Cerebral atrophy, Astrocytosis, Retrocollis, Gliosis, Neuronal loss in c... OMIM:601104
Congenital Tracheal Stenosis
Hypoplastic left heart, Fetal ascites, Abnormal lung morphology, Abnormal lung lobation, Anomalou... ORPHA:141127
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Pneumonia, Vascular ring, Abnormal heart morphology, Cardiac conduction ab... ORPHA:353281
Congenital Sialidosis Type 2
Umbilical hernia, Abnormal heart morphology, Abnormal EKG, Hepatosplenomegaly, Ascites, Inguinal ... ORPHA:93400
Woods Syndrome
Hypoplastic fifth toenail, Supernumerary nipple, Ventricular septal defect, Broad nail, Frontal h... OMIM:615236
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Ritscher-Schinzel Syndrome 2
Pulmonary artery hypoplasia, Camptodactyly of finger, Ventricular septal defect, Atrial septal de... OMIM:300963
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:2184
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Cerebral atrophy, Hypoplastic fingernail, Hypoplastic toenails, Ventricular septal defect, Low an... OMIM:220500
Syndromic Diarrhea
Aortic regurgitation, Peripheral pulmonary artery stenosis, Trichorrhexis nodosa, Abnormal heart ... ORPHA:84064
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Bronchiectasis OMIM:615434
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral regurgitation, Coro... OMIM:617168
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Arrhythmia, Transposition of the great arteries, Paroxy... OMIM:617877
Liver Disease, Severe Congenital
Dry hair, Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Abn... OMIM:619991
Desbuquois Syndrome
Camptodactyly of finger, Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musc... ORPHA:1425
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Umbilical hernia, Lymphopenia, Eosinophilia... OMIM:617237
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Death in childhood, Patent foramen ovale OMIM:614582
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
High anterior hairline, Toenail dysplasia, Hypoplastic fingernail, Umbilical hernia, Fingernail d... ORPHA:1292
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip contracture, Ventricular septal defect, Curly hair, Hypoplastic aortic arch, Hypoplastic left... OMIM:619503
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Pleural effusion, Anasarca, Edema, Cerebellar atrophy OMIM:254900
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Congenital Disorder Of Glycosylation, Type Iil
Cerebellar atrophy, Cerebral atrophy, Death in infancy, Ventricular septal defect, Atrial septal ... OMIM:614576
Radio-Renal Syndrome
Chylothorax, Pleural effusion ORPHA:3015
Abruzzo-Erickson Syndrome
Atrial septal defect ORPHA:921
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Cockayne Syndrome A
Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Square pelvis bone, D... OMIM:216400
Atrial Standstill 2
Atrial standstill, Cardiomyopathy, Absent P wave, Atrial cardiomyopathy, Dilatation of the ventri... OMIM:615745
Digeorge Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Recurrent pneumonia, Atel... OMIM:188400
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Recurrent respiratory infections, Hypertrophic cardiomyopathy, Facial hirsutism, Thick eyebrow, A... OMIM:619383
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Arthrogryposis-like hand anomaly, Horizontal eyebrow, Umbilical hernia, Abnormal heart morphology... ORPHA:369891
Noonan Syndrome 4
Sparse eyebrow, High anterior hairline, Hypertrophic cardiomyopathy, Ventricular septal defect, A... OMIM:610733
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect OMIM:619608
Omenn Syndrome
Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphaden... OMIM:603554
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Pigmentary retinopathy, Hypocholesterolemia, Abnormal erythrocyte morphology, Acan... ORPHA:96180
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, Atrial septal defect, Patent foramen ovale ORPHA:89844
Alg12-Cdg
Hypoalbuminemia, Sandal gap, Small nail, Hypocholesterolemia, Overlapping fingers, Clinodactyly o... ORPHA:79324
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... ORPHA:52368
Intellectual Developmental Disorder, Autosomal Dominant 47
Cerebral atrophy, Supernumerary nipple, Thin eyebrow, Increased nuchal translucency, Ventricular ... OMIM:617635
Thanatophoric Dysplasia Type 1
Increased nuchal translucency, Atrial septal defect, Aplasia/Hypoplasia of the lungs, Polyhydramn... ORPHA:1860
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, B lymphocytopenia, Neutropenia, Cerebral hemorrhage, Panniculitis OMIM:301081
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2772
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Knee flexion contracture, Ventricular septal defect, Coronary artery ath... ORPHA:435638
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Mitral regurgitation, Premature arteriosclerosis, Calcification of the aort... ORPHA:391665
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Hypogonadism, Ventricular septal defect, Synophrys ORPHA:3306
Noonan Syndrome
Coarse hair, Abnormal EKG, Hypertrophic cardiomyopathy, Lymphedema, Melanocytic nevus, Delayed me... ORPHA:648
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Hypomandibular Faciocranial Dysostosis
Death in infancy, Atrial septal defect, Polyhydramnios, Recurrent respiratory infections, Patent ... ORPHA:1790
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Intestinal lymphangiectasia OMIM:207731
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Decreased LDL chole... OMIM:615558
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl... OMIM:619542
Cockayne Syndrome Type 1
Optic atrophy, Pigmentary retinopathy, Hearing impairment, Cryptorchidism, Abnormality of periphe... ORPHA:90321
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Umbilical hernia, Hypertrophic cardiomyopathy, Brain atrophy, Death in childhood, Hypoplastic toe... OMIM:612938
Neurooculorenal Syndrome
Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Mitral valve prolapse, Dextroc... OMIM:620305
Alstrom Syndrome
Irregular menstruation, Alopecia, Dilated cardiomyopathy, Pigmentary retinopathy, Recurrent pneum... OMIM:203800
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thick eyebrow, Frontal upsweep of hair, Hirsutism, Low anterior hairline, Ventricular septal defe... OMIM:617061
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Al-Raqad Syndrome
Atrial septal defect OMIM:616459
Waardenburg Syndrome
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... ORPHA:3440
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Low-set ears, Bilateral conductive hearing impairment, Clinodactyly, Atresia of the external audi... OMIM:620186
Incontinentia Pigmenti
Hypopigmented skin patches, Supernumerary nipple, Abnormal hair morphology, Abnormal toenail morp... ORPHA:464
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Recurrent upper respiratory tract infections, Congestive heart failure, Tricuspid regurgitation, ... ORPHA:508542
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Tetralogy of Fallot, Death in childhood, Ventricular septal defect, Coar... OMIM:600460
16P12.1P12.3 Triplication Syndrome
Abnormal heart morphology, Tachycardia, Abnormal tricuspid valve morphology, Atrial septal defect ORPHA:485405
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Shoulder flexion contracture, Hearing impairment, Cryptorchi... OMIM:193700
Chromosome 6Q24-Q25 Deletion Syndrome
Tricuspid regurgitation, Mitral valve prolapse, Sparse eyelashes, Low posterior hairline, Persist... OMIM:612863
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Aortic root aneurysm, Generalized arterial tortuosity, Abdominal a... OMIM:610168
Coffin-Siris Syndrome 7
Thick eyebrow, Oligohydramnios, Polyhydramnios, Patent foramen ovale, Ventricular septal defect, ... OMIM:618027
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Autoimmune... OMIM:616100
Tarp Syndrome
Subdural hemorrhage, Tetralogy of Fallot, Oligohydramnios, Neonatal death, Atrial septal defect OMIM:311900
Shwachman-Diamond Syndrome 2
Normocytic anemia, Low-set ears, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepa... OMIM:617941
Ferguson-Bonni Neurodevelopmental Syndrome
Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia, Patent foramen ovale OMIM:619699
Cardiofacioneurodevelopmental Syndrome
Abdominal situs inversus, Atrioventricular canal defect, Ventricular septal defect, Camptodactyly... OMIM:619123
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Sensorineural hearing impairment OMIM:609727
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Patent foramen ovale, Ventricular septal defect, Double outlet right vent... OMIM:301043
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... ORPHA:542306
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cerebral cortical atrophy, Alopecia, Small nail, Ventricular septal defect, Absent eyelashes, Abs... ORPHA:166035
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebral cortical atrophy, Cerebellar atrophy, Brain atrophy, Patent foramen ovale, Limb hyperton... OMIM:620327
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... ORPHA:90038
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Paten... OMIM:617159
Proteasome-Associated Autoinflammatory Syndrome 1
Irregular menstruation, Recurrent upper respiratory tract infections, Skeletal muscle atrophy, Pr... OMIM:256040
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Hip dislocation, Coxa valga, Sensorineural hearing impairment OMIM:109120
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... OMIM:615474
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Hypoplastic left heart, Bicuspid aortic valve, Atrial septal defect, Hyperconvex nail, Sparse hair OMIM:619721
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Transposition of the great arteries, Patent foramen ovale OMIM:616789
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Ventricular septal defe... ORPHA:369929
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Encephalocele, Calf muscle h... OMIM:253800
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cellulitis, Vasculitis, Decreased mean platelet volume, Hematochezia, Cervical lymphadenopathy, L... OMIM:617718
Chromosome 9P Deletion Syndrome
Highly arched eyebrow, Fair hair, Narrow nail, Ventricular septal defect, Perimembranous ventricu... OMIM:158170
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Lower-limb joint contracture, Right aortic arch, Sparse lateral eyebrow, Ventricular septal defect ORPHA:513456
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Hypopigmented skin patches, Fine hair, Abnormal cerebral vascular morphology, Arterial stenosis, ... ORPHA:2637
De Barsy Syndrome
Prominent veins on trunk, Decreased muscle mass, Umbilical hernia, Ventricular septal defect, Per... ORPHA:2962
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia, EEG with spike-wave complexes, Hypsarrhythmia, EEG with changes in v... ORPHA:95232
Alagille Syndrome
Peripheral pulmonary artery stenosis, Ventricular septal defect, Telangiectasia of the skin, Atri... ORPHA:52
Andersen-Tawil Syndrome
Renal hypoplasia, Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular... ORPHA:37553
Burn-Mckeown Syndrome
Hypomimic face, Atrial septal defect, Ventricular septal defect OMIM:608572
Chronic Graft Versus Host Disease
Alopecia, Xerostomia, Ascites, Pleural effusion, Nail dystrophy, Onycholysis, Pneumothorax, Abnor... ORPHA:99921
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Cerebellar atrophy, Cerebral atrophy, Congestive heart failure, Polyhydramni... OMIM:616271
Coffin-Siris Syndrome 6
Atrial septal defect, Diaphragmatic eventration OMIM:617808
Pontocerebellar Hypoplasia, Type 17
Patent ductus arteriosus, Secundum atrial septal defect, Limb hypertonia, Ventricular septal defect OMIM:619909
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Broad hallux, Overlapping toe, Overlapping fin... ORPHA:401973
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Facial diplegia, Nail dystrophy, Chronic noninfectious l... ORPHA:31150
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Cerebral atrophy, Ventricular septal defect, Pulmonary arterial hypertension... OMIM:616449
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dilated cardiomyopathy, Cerebral atrophy, Neurodegeneration, Death in childhood, Ophthalmoplegia,... OMIM:618321
Mirizzi Syndrome
Cholelithiasis, Hyperbilirubinemia, Pancreatitis, Abnormal ductus choledochus morphology, Gallbla... ORPHA:521219
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,... ORPHA:90797
Recombinant 8 Syndrome
Camptodactyly of finger, Abnormal hair morphology, Tetralogy of Fallot, Ventricular septal defect... ORPHA:96167
Fontaine Progeroid Syndrome
Small nail, Neonatal death, Low posterior hairline, Bicuspid aortic valve, Atrial septal defect, ... OMIM:612289
Pearson Syndrome
Hearing impairment, Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hypoparathyro... ORPHA:699
Histiocytosis-Lymphadenopathy Plus Syndrome
Joint contracture of the 5th finger, Mitral valve prolapse, Ventricular septal defect, Flexion co... OMIM:602782
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Patent ductus arteriosus, Pulmonary arterial hypertension, Atrial septal defect, Ventricular sept... ORPHA:2519
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Sparse eyebrow, Death in childhood, Hypoplastic toenails, Ventricular septal defect, Sparse eyela... OMIM:616901
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Neonatal death, Ventricular septal defect, Atrial septal defect, Patent ... OMIM:620024
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Diaminopentanuria
Neurodegeneration OMIM:222350
Paternal Uniparental Disomy Of Chromosome 5
Polyhydramnios, Secundum atrial septal defect ORPHA:96190
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Mitral regurgitation, Ventricular septal defect, Generalized hirsutism, Arr... ORPHA:254346
Wiedemann-Steiner Syndrome
Highly arched eyebrow, Long eyelashes, Thick eyebrow, Broad lateral eyebrow, Contracture of the d... OMIM:605130
Stevenson-Carey Syndrome
Camptodactyly, Joint contracture of the hand, Atrial septal defect, Left superior vena cava drain... OMIM:611961
Adult-Onset Still Disease
Neutrophilia, Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Proteinuria, An... ORPHA:829
Feingold Syndrome
Deviation of the 2nd finger, Toe syndactyly, Annular pancreas, Abnormality of the spleen, Sensori... ORPHA:1305
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Hypertrichosis, Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Broad eyebrow, ... OMIM:620113
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Pulmonary hypoplasia, Aortic roo... OMIM:620025
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... OMIM:203300
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Arterial rupture, Atrial septal defect OMIM:619115
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... OMIM:619510
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Increased total bilirubin, Cholestasi... ORPHA:84081
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hypoglutaminemia... ORPHA:3008
Hypomandibular Faciocranial Dysostosis
Patent ductus arteriosus, Atrial septal defect OMIM:241310
Rothmund-Thomson Syndrome, Type 2
Sparse hair, Congenital hip dislocation, Small hand, Alopecia, Annular pancreas, Short thumb, Pro... OMIM:268400
Malignant Hyperthermia Of Anesthesia
Cardiomyocyte mitochondrial proliferation, Necrotizing myopathy, Supraventricular tachycardia, Hi... ORPHA:423
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a... ORPHA:3214
Fanconi Anemia, Complementation Group D2
Low-set ears, Bone marrow hypocellularity, Absent thumb, Short thumb, Annular pancreas, Preaxial ... OMIM:227646
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Osteopenia, Rickets, Cholestasis, Pancytopenia, Portal hypertension, Hepatic ste... OMIM:613658
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Peripheral pulmonary artery stenosis, Bronchiolitis, Congestive heart failu... ORPHA:90348
Listeriosis
Pneumonia, Arteritis, Congestive heart failure, Rhabdomyolysis, Stroke, Miscarriage, Myocarditis,... ORPHA:533
Pheochromocytoma--Islet Cell Tumor Syndrome
Axillary freckling, Congestive heart failure, Positive regitine blocking test, Episodic hypertens... OMIM:171420
Carpenter Syndrome 1
Joint contracture of the hand, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, ... OMIM:201000
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Highly arched eyebrow, Cerebral cortical atrophy, Long eyelashes, Ventricular septal defect, Atri... ORPHA:505237
Tetraamelia Syndrome 2
Bilateral lung agenesis, Hypoplastic pulmonary veins, Ventricular septal defect OMIM:618021
Gaucher Disease, Type Ii
Bronchiolitis, Cerebral atrophy, Death in infancy, Ophthalmoplegia, Recurrent aspiration pneumoni... OMIM:230900
Cutis Laxa, Autosomal Recessive, Type Ic
Morgagni diaphragmatic hernia, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelect... OMIM:613177
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Hypochromic anemia, Hearing impairment, White hair, Ocular albinism, Abnor... ORPHA:2720
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Ogden Syndrome
Low-set ears, Recurrent otitis media, Hyperbilirubinemia, Cryptorchidism, Jaundice, Macrovesicula... OMIM:300855
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Cardiofaciocutaneous Syndrome
Cerebral cortical atrophy, Fine hair, Lymphedema, Hypertrophic cardiomyopathy, Abnormal heart val... ORPHA:1340
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Polyhydramnios, Ventricular septal defect ORPHA:2256
Houge-Janssens Syndrome 3
Muscular ventricular septal defect, Atrial septal defect, Umbilical hernia OMIM:618354
Idiopathic Aplastic Anemia
Epistaxis, Bone marrow hypocellularity, Pancytopenia, Retinal hemorrhage, Reticulocytopenia, Thro... ORPHA:88
Macrocephaly/Autism Syndrome
Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, Hydrocele testis OMIM:605309
Noonan Syndrome 7
Hypertrophic cardiomyopathy, Low posterior hairline, Atrial septal defect, Curly hair, Pulmonic s... OMIM:613706
Buratti-Harel Syndrome
Recurrent pneumonia, Dilation of Virchow-Robin spaces, Small nail, Sparse medial eyebrow, Atrial ... OMIM:619314
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Aortic root aneurysm, Cerebellar atrophy, Fine hair, Generalized limb muscle atrophy, Cerebral at... OMIM:618891
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Alopecia, Small nail, Supernumerary nipple, Tetral... OMIM:100300
Leukoencephalopathy, Progressive, With Ovarian Failure
Neurodegeneration, Premature ovarian insufficiency, Cerebellar atrophy, Muscle weakness OMIM:615889
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin... OMIM:187300
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Williams Syndrome
Death in early adulthood, Mitral regurgitation, Myopathy, Ventricular septal defect, Mitral valve... ORPHA:904
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Patent foramen ovale, Ventricular septal defect, Pulmonary arterial hyperten... ORPHA:209905
Mgat2-Cdg
Abnormal heart morphology, Long eyelashes, Brain atrophy, Hirsutism, Ventricular septal defect, A... ORPHA:79329
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Shashi-Pena Syndrome
Highly arched eyebrow, Dilation of Virchow-Robin spaces, Hypertrichosis, Long eyelashes, Limb hyp... OMIM:617190
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Muscular dystrophy, Abnormal lung lobation, Ascites, Increased nuchal trans... ORPHA:1052
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hepatic steatosis, Hyperuricemia, Hyperalaninemia, Hepatomegaly ORPHA:348
Pediatric-Onset Graves Disease
Sinus tachycardia, Congestive heart failure, Palpitations, Oligohydramnios, Atrial fibrillation, ... ORPHA:525731
Intellectual Disability-Strabismus Syndrome
Highly arched eyebrow, Joint contracture of the hand, Brain atrophy, Congenital diaphragmatic her... ORPHA:363528
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... OMIM:616834
Constricting Bands, Congenital
Encephalocele, Ectopia cordis, Abnormal lung lobation OMIM:217100
Aase-Smith Syndrome I
Flexion contracture, Death in infancy, Ventricular septal defect OMIM:147800
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Cerebral cortical atrophy, Sparse eyebrow, Dilation of Virchow-Robin spaces, Low anterior hairlin... OMIM:619720
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Nonimmune hydrops fetalis, Congestive heart failure OMIM:166210
Weiss-Kruszka Syndrome
Highly arched eyebrow, Hypoplastic fingernail, Dextrotransposition of the great arteries, Ventric... OMIM:618619
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Highly arched eyebrow, Trichiasis, Vascular ring, Pneumonia, Abnormal hear... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Highly arched eyebrow, Trichiasis, Vascular ring, Pneumonia, Abnormal hear... ORPHA:353277
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Bone marrow hypo... OMIM:619767
Multiple Benign Circumferential Skin Creases On Limbs
Irregular hyperpigmentation, Umbilical hernia, Congestive heart failure, Generalized hirsutism, E... ORPHA:2505
Isolated Klippel-Feil Syndrome
Low posterior hairline, Congenital muscular torticollis, Spina bifida, Ventricular septal defect ORPHA:2345
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia OMIM:620365
Lujan-Fryns Syndrome
Atrial septal defect, Camptodactyly of finger ORPHA:776
Mucopolysaccharidosis, Type Vii
Recurrent upper respiratory tract infections, Coarse hair, Cardiomyopathy, Umbilical hernia, Abno... OMIM:253220
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Interrupted aortic arch, Alopecia, Cerebral cortical atrophy, Cerebral atr... ORPHA:2396
22Q11.2 Deletion Syndrome
Hypertensive crisis, Gastrointestinal hemorrhage, Abnormal aortic arch morphology, Atelectasis, A... ORPHA:567
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Increased variability in muscle fiber diameter, Skeletal muscle atrophy,... ORPHA:17
X-Linked Lissencephaly With Abnormal Genitalia
Patent ductus arteriosus, Death in infancy, Ventricular septal defect ORPHA:452
Pontocerebellar Hypoplasia, Type 8
Hypertrichosis, Long eyelashes, Thick eyebrow, Patent foramen ovale, Ventricular septal defect, A... OMIM:614961
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal... OMIM:612562
Adams-Oliver Syndrome 5
Dystrophic toenail, Umbilical hernia, Absent toenail, Patent foramen ovale, Hypoplastic toenails,... OMIM:616028
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow contracture, Contractu... OMIM:617201
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale OMIM:618821
Kleefstra Syndrome
Highly arched eyebrow, Cerebral cortical atrophy, Supernumerary nipple, Tetralogy of Fallot, Vent... ORPHA:261494
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Oculoauriculofrontonasal Syndrome
Encephalocele, Ventricular septal defect ORPHA:398156
Fumarase Deficiency
Intrahepatic cholestasis, Hyperbilirubinemia, Optic atrophy, Polycythemia OMIM:606812
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect, Frontal encephalocele ORPHA:521308
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... ORPHA:3109
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Highly arched eyebrow, Long eyelashes, Ventricular septal defect, Atrial septal defect, Flexion c... OMIM:617452
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cholestasis, Hyperbilirubinemia, Interface hepatitis, Sclerosing chola... ORPHA:562639
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Pulmonary edema, Prolonged QT interval, Cerebral ed... ORPHA:31826
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Interface hepatitis, Ventri... OMIM:243150
Joubert Syndrome 18
Camptodactyly, Occipital encephalocele, Ventricular septal defect OMIM:614815
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Dyskeratosis Congenita, Autosomal Dominant 2
Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Premature graying of hair, Pancyt... OMIM:613989
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Ret... OMIM:194380
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hyperpigmented/hypopigmented macules, Proximal muscle weakness in lower limbs, Peripheral pulmona... ORPHA:280633
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia ORPHA:79254
Jansen-De Vries Syndrome
Bicuspid aortic valve, Central diaphragmatic hernia, Ventricular septal defect OMIM:617450
Reni Syndrome
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypogonadism, Lymphopen... OMIM:617575
Glycogen Storage Disease Ib
Xanthelasma, Hyperlipidemia, Splenomegaly, Hyperuricemia, Pancreatitis, Pancreatic fibrosis, Neut... OMIM:232220
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Aplasia/Hypoplasia of the earlobes, Short toe, HbH hemoglobin, Microcytic anemia, Low-set, poster... ORPHA:98791
Kabuki Syndrome 2
Highly arched eyebrow, Sparse lateral eyebrow, Atrioventricular canal defect, Long eyelashes, Hir... OMIM:300867
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Cerebellar atrophy, Neurodegeneration, Ragged-red muscle fibers, Myopath... OMIM:616239
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Reynolds Syndrome
Biliary cirrhosis, Cholestasis, Lymphopenia, Hyperbilirubinemia, Splenomegaly, Calcinosis, Hepato... OMIM:613471
Phace Association
Arterial stenosis, Ventricular septal defect, Coarctation of aorta, Aortic aneurysm, Anomalous br... OMIM:606519
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Lower limb hypertonia, Ventricular septal defect OMIM:619995
Mirage Syndrome
Microphallus, Decreased testicular size, Lymphopenia, Leukopenia, Cryptorchidism, Hypoplastic spl... OMIM:617053
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Prominent eyelashes, Small nail, Hypertrichosis, Ab... ORPHA:1465
Beaulieu-Boycott-Innes Syndrome
High anterior hairline, Endometriosis, Ventricular septal defect, Premature ovarian insufficiency... OMIM:613680
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Highly arched eyebrow, Thick eyebrow, Polyhydramnios, Ventricular septal defect, Low posterior ha... OMIM:617360
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Highly arched eyebrow, Branchial fistula, Camptodactyly of finger, Absent t... ORPHA:261330
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Spinal dysraphism, Mitral stenosis, Atrial septal ... OMIM:617660
Hermansky-Pudlak Syndrome 11
Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Iris transillumination defect OMIM:619172
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hypopigmentation of the skin, Cupped ear, Hearing impairment, Melanocytic nevus, Genu valgum, Hyp... OMIM:619475
You-Hoover-Fong Syndrome
Double aortic arch, Coarctation of aorta, Vascular ring OMIM:616954
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cerebral edema, Tricuspid regurgitation, Long eyelashes, Corpus callosum atrophy, Cerebral hemorr... OMIM:620371
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Dilation of Virchow-Robin spaces, Contracture of the proximal interphalangeal joint of the 2nd fi... OMIM:300998
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Bilateral cryptorchidism, Lymphopenia, Pancytopenia, Stage 5 ... OMIM:242900
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration, Congenital diaphragmatic hernia, Telangiectasia of the ski... ORPHA:438134
Niemann-Pick Disease, Type C2
Fetal ascites, Neurofibrillary tangles, Bone-marrow foam cells, CNS foam cells, Death in childhoo... OMIM:607625
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Reduced left ventricular ejection fraction, Right bundle branch block, Cardiomegaly... ORPHA:268
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Recurrent respiratory infections, Secundum atrial septal defect, Hypertension, Umbilical hernia OMIM:619758
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypertrichosis, Pancreatic lymphangiectasis, Lymphedema, Ascites, Death in infancy, Ventricular s... OMIM:235255
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Aortic regurgitation, Dry hair, Cardiomyopathy, White... ORPHA:576
Joubert Syndrome 3
Highly arched eyebrow, Pigmentary retinopathy, Atrial septal defect OMIM:608629
Oligomeganephronia
Secundum atrial septal defect, Branchial cyst, Congenital diaphragmatic hernia, Pulmonary venous ... ORPHA:2260
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta, Facial palsy OMIM:107550
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Spinal arteriovenous malformation, Right... OMIM:610655
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Ventricular septal defect OMIM:617895
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Atrial septal defect, Joint contracture, Polyhydramnios, Recurrent lower respiratory tract infect... OMIM:618005
Braddock-Carey Syndrome 1
Ventricular septal defect, Aortic valve prolapse, Curly hair, Camptodactyly, Sparse hair OMIM:619980
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Atrial septal defect, Ventricular septal defect ORPHA:261190
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Atrial septal defect, Meningocele, Anencephaly OMIM:611134
Granulomatous Disease, Chronic, X-Linked
Ascites, Recurrent pneumonia, Pleural effusion, Atelectasis OMIM:306400
Hereditary Hemorrhagic Telangiectasia
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ... ORPHA:774
Chops Syndrome
Coarse hair, Aspiration pneumonia, Long eyelashes, Thick eyebrow, Patent foramen ovale, Ventricul... OMIM:616368
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Parotitis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increas... OMIM:620376
19Q13.11 Microdeletion Syndrome
Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Sparse or absent eyelashes, Ventricular ... ORPHA:217346
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Umbilical hernia, Widow's peak, Ventricular septal defect ORPHA:2143
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Aplasia of the uterus, Anteriorly displaced urethral meatus, ... OMIM:266810
Coffin-Siris Syndrome 4
Pulmonary artery atresia, Hypertrichosis, Mitral atresia, Long eyelashes, Thick eyebrow, Ventricu... OMIM:614609
Atelosteogenesis Type I
Low-set ears, Abnormal pancreatic duct morphology, Absent or minimally ossified vertebral bodies,... ORPHA:1190
Scalp-Ear-Nipple Syndrome
Sparse pubic hair, Fine hair, Congestive heart failure, Breast aplasia, Supraventricular tachycar... OMIM:181270
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Insulin-Like Growth Factor I, Resistance To
Highly arched eyebrow, Thick eyebrow, Patent foramen ovale, Ventricular septal defect, Atrial sep... OMIM:270450
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, ... OMIM:614921
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... ORPHA:443811
Holoprosencephaly 14
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect OMIM:619895
Diamond-Blackfan Anemia 1
Congestive heart failure, Ventricular septal defect, Coarctation of aorta, Small thenar eminence,... OMIM:105650
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Atrial septal defect, Torticollis, Patent ductus arteriosus after birth ... ORPHA:251061
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat... OMIM:613795
Amyotrophic Lateral Sclerosis
Progressive distal muscular atrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower l... ORPHA:803
Chylomicron Retention Disease
Hypocholesterolemia, Acanthocytosis, Hepatic steatosis, Steatorrhea, Increased hepatocellular lip... ORPHA:71
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Neonatal death, Pulmonary arterial hypertension, Irregular menstruation, Congestive heart failure OMIM:616482
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Hematochezia, Hepatitis, Leukocytosis, Splenomegaly, Autoimmun... OMIM:620565
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Sparse eyebrow, Hypoplastic toenails, Atrial septal defect, Camptodactyly,... ORPHA:459061
Bohring-Opitz Syndrome
Low-set ears, Short toe, Supernumerary nipple, Hypertrichosis, Overlapping toe, Low anterior hair... OMIM:605039
Craniofacial Microsomia 1
Hypoplasia of facial musculature, Occipital encephalocele, Tetralogy of Fallot, Right aortic arch... OMIM:164210
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Proteinuria, Anemia, Neutropenia, Schistocytosis, Moderate proteinuria, ... OMIM:301110
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Decreased muscle mass, Mitral regurgitation, Patent foramen ovale, Ventricu... OMIM:615582
Koolen-De Vries Syndrome
Iris hypopigmentation, Aortic root aneurysm, Fair hair, Ventricular septal defect, Bicuspid aorti... OMIM:610443
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Supernumerary nipple, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect,... ORPHA:457279
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Vasculitis, Bone marrow hypocellularity, Dilated cardiomyopathy, Lymphopenia, Hepatosplenomegaly,... OMIM:615688
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Highly arched eyebrow, Long eyelashes, Thick eyebrow, Low anterior hairline, Hirsutism, Ventricul... OMIM:610759
Verheij Syndrome
Truncus arteriosus, Branchial cyst, Ventricular septal defect OMIM:615583
Severe X-Linked Intellectual Disability, Gustavson Type
Recurrent upper respiratory tract infections, Brain atrophy, Contractures of the large joints, Ve... ORPHA:3078
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, T lymphocytopenia, Impaired lymphoc... ORPHA:35078
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Recurrent lower respiratory tract infections, Secundum atrial septal defect, Brain atrophy OMIM:620194
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Ventricular septal defect OMIM:218350
Contractures-Developmental Delay-Pierre Robin Syndrome
Peripheral pulmonary artery stenosis, Wrist flexion contracture, Atrial septal defect ORPHA:436003
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Patent ductus arteriosus, Ventricular septal defect OMIM:617516
X Small Rings
Aortic root aneurysm, Oligohydramnios, Mitral stenosis, Ventricular septal defect, Low posterior ... ORPHA:96201
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Hoyeraal-Hreidarsson Syndrome
Bone marrow hypocellularity, Generalized hypopigmentation of hair, Premature graying of hair, Gen... ORPHA:3322
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Noonan Syndrome 3
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova... OMIM:609942
Multiple Myeloma
Pleural effusion, Generalized muscle weakness ORPHA:29073
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse eyebrow, Recurrent pneumonia, Cerebral atrophy, Contracture of the proximal interphalangea... ORPHA:464738
Intellectual Developmental Disorder, Autosomal Recessive 65
Contracture of the proximal interphalangeal joint of the 5th finger, Secundum atrial septal defec... OMIM:618109
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the u... OMIM:158330
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ascending tubular aorta aneurysm, Flexion contracture, Atrial septal defect, Ventricular septal d... OMIM:309520
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Peripheral pulmonary artery stenosis, Atrial septal defect OMIM:614749
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:276621
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Short-Rib Thoracic Dysplasia 12
Atelectasis, Ascites, Patent foramen ovale, Ventricular septal defect, Neonatal death, Polyhydram... OMIM:269860
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hyperbilirubinemia, Posterior pituitary hypoplasia OMIM:613986
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cerebral atrophy, Torsade de pointes, Hypertrophic cardiomyopathy, Neurodegeneration, Rhabdomyoly... OMIM:616878
17Q23.1Q23.2 Microdeletion Syndrome
Highly arched eyebrow, Congenital contracture, Long eyelashes, Pulmonary arterial hypertension, A... ORPHA:261279
Genitopatellar Syndrome
Fine hair, Hip contracture, Knee flexion contracture, Atrial septal defect, Arthrogryposis multip... ORPHA:85201
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Renal artery stenosis, Episodic hypert... OMIM:171300
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Highly arched eyebrow, Cerebral cortical atrophy, Global brain atrophy, Brain atrophy, Broad eyeb... ORPHA:457351
Poland Syndrome
Congenital diaphragmatic hernia, Encephalocele, Low posterior hairline, Atrial septal defect, Dex... ORPHA:2911
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Umbilical hernia, Joint contracture of the 5th finger, Joint contracture of the 4th finger, Paten... OMIM:618914
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, Hy... ORPHA:206436
Cerebrotendinous Xanthomatosis
Optic atrophy, Cholelithiasis, Abnormal auditory evoked potentials, Osteopenia, Abnormal motor ev... ORPHA:909
Parkes Weber Syndrome
Arteriovenous malformation, Myelopathy, Lower limb muscle weakness, Vascular tortuosity, Venous m... ORPHA:90307
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Loose anagen hair, Sparse scalp hair, Hypertrophic cardiomyopathy, Multiple... OMIM:607721
Spondylo-Ocular Syndrome
Iris hypopigmentation, Abnormal eyebrow morphology, Ventricular septal defect, Low posterior hair... ORPHA:85194
8Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Gastrointestinal hemorrhage, Global brain atrophy, Branchial cyst, Abnorma... ORPHA:508488
Opitz Gbbb Syndrome
Aortic root aneurysm, Umbilical hernia, Abnormal heart morphology, Congenital diaphragmatic herni... ORPHA:2745
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Fg Syndrome Type 1
Umbilical hernia, Frontal upsweep of hair, Mitral valve prolapse, Coarctation of aorta, Pulmonary... ORPHA:93932
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Facial hypertrichosis, Palpebral edema, Atrial septal defect, Camptodactyly, Macroglossia, Patent... ORPHA:397709
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Edema, Ventricular septal defect OMIM:618348
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia OMIM:619752
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Cerebral edema, Left ventricular hypertrophy, Atrial septal defect, Left-to-right shunt OMIM:620510
Renal Agenesis
Pulmonary hypoplasia, Oligohydramnios, Hypertension, Ventricular septal defect ORPHA:411709
Marshall-Smith Syndrome
Dysplastic aortic valve, Highly arched eyebrow, Recurrent upper respiratory tract infections, Cer... OMIM:602535
Mosaic Trisomy 1
Camptodactyly of finger, Elbow flexion contracture, Increased nuchal translucency, Congenital dia... ORPHA:1692
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Brachydactyly, Type B1
Camptodactyly, Joint contracture of the hand, Ventricular septal defect OMIM:113000
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect ORPHA:457193
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Pelger-Huet Anomaly
Lower limb hypertonia, Umbilical hernia, Foot dorsiflexor weakness, Ventricular septal defect OMIM:169400
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Oculoectodermal Syndrome
Hyperpigmented streaks, Supernumerary nipple, Hypertrophic cardiomyopathy, Lymphedema, Transient ... OMIM:600268
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Feingold Syndrome Type 1
Interrupted aortic arch, Abnormal heart morphology, Multiple muscular ventricular septal defects,... ORPHA:391641
Neurodevelopmental Disorder With Spasticity And Poor Growth
Long eyelashes, Patent foramen ovale, Hirsutism, Knee flexion contracture, Patent ductus arterios... OMIM:618076
Hurler Syndrome
Aortic regurgitation, Cardiomyopathy, Recurrent respiratory infections, Umbilical hernia, Neurode... OMIM:607014
Chromosome 17Q12 Duplication Syndrome
Facial hypotonia, Atrial septal defect OMIM:614526
Alazami Syndrome
Sparse eyebrow, Atrial septal defect ORPHA:319671
Kapur-Toriello Syndrome
Joint contracture of the hand, Camptodactyly of finger, Ventricular septal defect, Atrial septal ... OMIM:244300
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ven... OMIM:309801
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Fine hair, White hair, Lymphopenia, Reduced bone mineral density, Aganglionic megacolon, Long fib... ORPHA:935
Cooper-Jabs Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular septal de... ORPHA:1488
Kapur-Toriello Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect ORPHA:2328
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Ventricular septal defect OMIM:601357
Trisomy 1Q
Camptodactyly of finger, Increased nuchal translucency, Congenital diaphragmatic hernia, Ventricu... ORPHA:261344
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Reduced red cel... OMIM:102700
Waardenburg Syndrome, Type 2E
Iris hypopigmentation, Hypopigmented skin patches, Premature graying of hair, Ocular albinism, Wh... OMIM:611584
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Arrhythmia, Atrial septal defect, Patent foramen ovale, Brittle hair OMIM:619184
Brittle Cornea Syndrome
Abnormal epiphysis morphology, Conductive hearing impairment, Abnormality of hair pigmentation, S... ORPHA:90354
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Vascular dilatation, Ventricular septal defect OMIM:219730
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Heart murmur, Atrial septal defect ORPHA:2728
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Low-set ears, Hepatic fibrosis, Osteopenia, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal... OMIM:610199
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Mitral valve prolapse, Curly hair OMIM:300986
Fanconi Anemia, Complementation Group I
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:609053
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, De... ORPHA:760
Zaki Syndrome
Sparse eyebrow, Sparse lateral eyebrow, Congenital diaphragmatic hernia, Patent foramen ovale, Hy... OMIM:619648
Acute Generalized Exanthematous Pustulosis
Cholestasis, Renal insufficiency, Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutr... ORPHA:293173
Myopathy With Extrapyramidal Signs
Proximal muscle weakness, Gowers sign, Calf muscle hypertrophy, Ventricular septal defect OMIM:615673
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,... OMIM:300835
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Hypertrophic cardiomyopathy, Highly arched eyebrow, Secundum atrial septal defect, Facial diplegia OMIM:619121
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus, Ectopic kidney OMIM:601076
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Costello Syndrome
Cerebral atrophy, Rhabdomyosarcoma, Hypertrophic cardiomyopathy, Polyhydramnios, Concave nail, Mi... OMIM:218040
Al Kaissi Syndrome
Atrial septal defect, Torticollis, Synophrys OMIM:617694
Pancreatitis, Hereditary
Pleural effusion OMIM:167800
Cardioacrofacial Dysplasia 2
Atrioventricular canal defect, Common atrium, Left superior vena cava draining to coronary sinus OMIM:619143
Brachytelephalangic Chondrodysplasia Punctata
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Recurrent respiratory... ORPHA:79345
ERI1-related disease
Tricuspid regurgitation, Abnormal heart morphology, Ventricular septal defect, Low anterior hairl... OMIM:608739
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Cryptorchidism, Macrocytic anemia, Elev... OMIM:620501
Hallermann-Streiff Syndrome
Alopecia, Sparse eyebrow, Abdominal situs inversus, Sparse body hair, Congestive heart failure, S... ORPHA:2108
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal aortic arch morphology, Spinal dysraphism, Interphalangeal joint contracture of finger, ... ORPHA:96334
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent aspiration pneumonia, Recurrent pneumonia, Patent ductus arteriosus, Ventricular septal... OMIM:300472
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Chronic kidney disease, Nephrocalcinosis, Uterus didelphys, Septate vagina, Distal renal tubular ... OMIM:146255
Congenital Disorder Of Glycosylation, Type Ig
Recurrent upper respiratory tract infections, Recurrent pneumonia, Patent foramen ovale, Polyhydr... OMIM:607143
Radio-Tartaglia Syndrome
Highly arched eyebrow, High anterior hairline, Small nail, Long eyelashes, Thick eyebrow, Low ant... OMIM:619312
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Highly arched eyebrow, Secundum atrial septal defect, Skeletal muscle atrophy, Cerebral atrophy, ... OMIM:615802
Autosomal Recessive Robinow Syndrome
Alopecia, Camptodactyly of finger, Tetralogy of Fallot, Fingernail dysplasia, Long eyelashes, Umb... ORPHA:1507
Kury-Isidor Syndrome
Alopecia, Ventricular septal defect, Hypertrichosis OMIM:619762
Hoxha-Aliu Syndrome
Highly arched eyebrow, High anterior hairline, Hypoplastic fingernail, Absent toenail, Low anteri... OMIM:620662
Lumbar Syndrome
Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Hypoplastic labia majora, Ambiguous genital... ORPHA:83628
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Umbilical hernia ORPHA:2268
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Cerebral atrophy, Ventricular septal defect ORPHA:447980
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Congestive heart failure, Hypogonadism, Myopathy, Oligozoospermia, H... ORPHA:85450
Microcephaly 30, Primary, Autosomal Recessive
Cerebral cortical atrophy, Increased nuchal translucency, Secundum atrial septal defect, Cafe-au-... OMIM:620183
Premature Ovarian Failure 7
Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis OMIM:612964
Sotos Syndrome
Sparse eyebrow, High anterior hairline, Small nail, Muscular ventricular septal defect, Ventricul... OMIM:117550
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia ORPHA:1116
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Horseshoe kidney, Aplasia of the uterus, Thrombocytopenia, Abnormal cardiac ... ORPHA:3320
Cardiofaciocutaneous Syndrome 1
Cerebral cortical atrophy, Hypertrophic cardiomyopathy, Multiple lentigines, Absent eyelashes, Lo... OMIM:115150
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Neurodegeneration, External ophthalmoplegia, Cerebellar atrophy, Atrophy/Degeneration affecting t... OMIM:612319
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... OMIM:614837
Niemann-Pick Disease, Type C1
Fetal ascites, Neurofibrillary tangles, CNS foam cells, Foam cells, Neuronal loss in central nerv... OMIM:257220
Hypohidrotic Ectodermal Dysplasia
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ... ORPHA:238468
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Elevated urinary dopamine level, Abnormal EKG, Syncope, Orthostatic hypotens... ORPHA:230
Geleophysic Dysplasia 1
Aortic valve stenosis, Joint contracture of the hand, Congestive heart failure, Camptodactyly of ... OMIM:231050
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Fine hair, Trichorrhexis nodosa, Tetralogy of Fallot, Large placenta, Curly... OMIM:222470
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Ventricular hypertrophy, Aortic root aneurysm, Umbilical hernia, Increased nuchal translucency, V... OMIM:620654
Focal Dermal Hypoplasia
Alopecia, Camptodactyly of finger, Umbilical hernia, Diastasis recti, Congenital diaphragmatic he... ORPHA:2092
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Meningocele, Intracranial hemorrhage, Hypertension OMIM:614424
Developmental Delay With Or Without Dysmorphic Facies And Autism
Highly arched eyebrow, Cerebral cortical atrophy, Small nail, Supernumerary nipple, Umbilical her... OMIM:618454
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Renal salt wasting, Abnormality of the Leydig cells, ... ORPHA:168558
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Coa... OMIM:618748
Common Variable Immunodeficiency
Vasculitis, Lymphopenia, Abnormality of the liver, Splenomegaly, Lymphadenopathy, Autoimmune thro... ORPHA:1572
Acute Radiation Syndrome
Hypotension, Lymphopenia, Telangiectasia, Thrombocytopenia, Granulocytopenia ORPHA:454831
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Nail dystrophy, Atrial septal defect, Brittle hair, Macroglossia ORPHA:93947
Chromosome 1Q41-Q42 Deletion Syndrome
Sparse eyebrow, Small nail, Supernumerary nipple, Congenital diaphragmatic hernia, Ventricular se... OMIM:612530
Paroxysmal Nocturnal Hemoglobinuria
Decreased circulating iron concentration, Unconjugated hyperbilirubinemia, Pancytopenia, Leukopen... ORPHA:447
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Small hand, Rocker bottom foot, Annular pancreas, Clinodactyly, Bilateral conductive hearing impa... ORPHA:488642
Adrenoleukodystrophy
Alopecia, Lower limb muscle weakness, Hypogonadism, Neurodegeneration, Bulbar palsy, Hyperpigment... OMIM:300100
Acrocephalopolydactylous Dysplasia
Low-set ears, Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Postaxial hand polydactyly, Hep... OMIM:200995
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Renpenning Syndrome 1
Joint contracture of the hand, Sparse lateral eyebrow, Cerebral atrophy, Tetralogy of Fallot, Sit... OMIM:309500
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Situs inversus totalis, Recurrent bronchitis, Bronchiectasis OMIM:244400
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:46627
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid leve... OMIM:260920
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hypoplastic fifth fingernail, Brain atrophy, Atrial septal defect, Muscle weakness OMIM:614207
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Leukopenia, Follicular hyperplasia, Telangiectasia, Raynaud phenomenon, Thrombocytos... OMIM:615934
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Biventricular hypertrophy, Tricuspid regurgitation, Oligohydramnios, Mitral... OMIM:617402
Alzahrani-Kuwahara Syndrome
Coronary sinus enlargement, Patent foramen ovale, Ventricular septal defect, Pulmonary artery sli... OMIM:619268
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Renal salt wasting, Abnormality of the Leydig cells, ... ORPHA:289548
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect ORPHA:79113
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Cerebellar atrophy, Cerebral atrophy, Congenital diaphragmatic hernia, Atrial septal defect, Poly... OMIM:614080
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Male hypogonadism, Precocious puberty in females,... ORPHA:90793
Bdv Syndrome
Hypogonadotropic hypogonadism, Atrial septal defect, Primary amenorrhea OMIM:619326
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Fetal Alcohol Syndrome
Generalized hirsutism, Atrial septal defect, Congenital diaphragmatic hernia ORPHA:1915
Hereditary Methemoglobinemia
Methemoglobinemia, Abnormality of the nail ORPHA:621
Fanconi Anemia, Complementation Group F
Pneumonia, Patent ductus arteriosus, Polyhydramnios, Atrial septal defect OMIM:603467
Limb Body Wall Complex
Abnormal heart morphology, Myelomeningocele, Diastasis recti, Congenital diaphragmatic hernia, En... ORPHA:2369
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
Lethal Kniest-Like Dysplasia
Polyhydramnios, Atrial septal defect, Edema ORPHA:2347
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Rere-Related Neurodevelopmental Syndrome
Abnormal heart morphology, Broad eyebrow, Ventricular septal defect ORPHA:494344
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Pelvic mass, Vaginal hematocele, ... ORPHA:65681
Yellow Fever
Pancreatic hyperplasia, Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukoc... ORPHA:99829
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Aortic root aneurysm, Elbow flexion contracture, Thick eyebrow, Congenital diaphragmatic hernia, ... OMIM:245600
Hamamy Syndrome
Sparse eyebrow, Sparse lateral eyebrow, Abnormal number of hair whorls, Prolonged QRS complex, Mi... OMIM:611174
Kaufman Oculocerebrofacial Syndrome
Low-set ears, Congenital hip dislocation, Sparse eyebrow, Hypocholesterolemia, Optic disc pallor,... OMIM:244450
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Cerebral atrophy, Ventricular septal defect, Pulmonary artery stenosis, Hypog... OMIM:301030
White-Sutton Syndrome
Cerebral atrophy, Congenital diaphragmatic hernia, Patent foramen ovale, Atrial septal defect, Fa... OMIM:616364
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect OMIM:618665
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Xerostomia, Recurrent respiratory infections, Hypogonadism, Atrial ... ORPHA:398069
Neu-Laxova Syndrome 1
Generalized edema, Joint contracture of the hand, Hydranencephaly, Small placenta, Brain atrophy,... OMIM:256520
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal heart morphology, Highly arched eyebrow, Ventricular septal defect, Low anterior hairline ORPHA:404440
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Immunodeficiency 9
Lymphopenia, Amelogenesis imperfecta, Hypoplasia of the thymus, Abnormal natural killer cell count OMIM:612782
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:29072
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Splenomegaly, Abscess, Neutrophilia OMIM:612852
Doors Syndrome
Toenail dysplasia, Aspiration pneumonia, Abnormal fingernail morphology, Sirenomelia, Low anterio... ORPHA:79500
Beck-Fahrner Syndrome
Cardiomegaly, Facial hypotonia, Ventricular septal defect OMIM:618798
Monosomy 13Q34
Hematochezia, Epistaxis, Horizontal eyebrow, Metrorrhagia, Common atrium, Pulmonic stenosis ORPHA:96168
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Peripheral pulmonary artery stenosis, Valvular pulmonary stenosis, Patent foramen ovale, Bicuspid... OMIM:300707
Matthew-Wood Syndrome
Low-set ears, Annular pancreas, Cryptorchidism, Abnormal spleen morphology, Aplasia/Hypoplasia of... ORPHA:2470
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Camptodactyly, Pulmonar... OMIM:616894
Craniofacioskeletal Syndrome
Interrupted aortic arch, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:300712
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia OMIM:617827
Mckusick-Kaufman Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pat... ORPHA:2473
Autosomal Dominant Hypocalcemia
Alopecia, Hypotension, Irregular hyperpigmentation, Congestive heart failure, Abnormal fingernail... ORPHA:428
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, Short toe, Thumb contracture, EEG with burst s... ORPHA:171929
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Hepatitis, Lymphopenia, Leukopenia, Thrombocytopenia, Melena, Acute ... ORPHA:319218
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Short ribs, Postaxial polydactyly, Brachy... OMIM:615503
Trichothiodystrophy
Aplasia/Hypoplasia of the nails, Diffuse cerebellar atrophy, Cerebral cortical atrophy, Cardiomyo... ORPHA:33364
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411511
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Restrictive cardiomyopathy, Global brain atrophy, Cerebellar atrophy, Abnormal lung lobation, Abn... ORPHA:369837
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Congenital diaphragmatic hernia, Atrial septal defect, Polyhydramnios, Hyd... OMIM:616546
Juvenile Polyposis Of Infancy
Hematochezia, Gastrointestinal hemorrhage, Intestinal bleeding, Abnormal heart morphology, Atrial... ORPHA:79076
Dubowitz Syndrome
Low-set ears, Aplastic anemia, Sparse lateral eyebrow, Hypocholesterolemia, Cryptorchidism, Otiti... OMIM:223370
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Low-set ears, Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Cholestasis, H... OMIM:266920
Brittle Cornea Syndrome 1
Red hair OMIM:229200
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:250989
African Trypanosomiasis
Alopecia, Second degree atrioventricular block, Third degree atrioventricular block, Myelopathy, ... ORPHA:3385
Lateral Meningocele Syndrome
Coarse hair, Decreased muscle mass, Umbilical hernia, Ventricular septal defect, Bicuspid aortic ... OMIM:130720
Smith-Lemli-Opitz Syndrome
Low-set ears, Postaxial foot polydactyly, Hearing impairment, Recurrent otitis media, Overlapping... OMIM:270400
Lead Poisoning
Imbalanced hemoglobin synthesis, Cranial hyperostosis, Increased LDL cholesterol concentration, A... ORPHA:330015
Wiskott-Aldrich Syndrome
Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Arrh... ORPHA:906
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Uterus didelphys, Abnormal heart morphology, Septate vagina, Renal ins... ORPHA:2237
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,... OMIM:600802
Sweet Syndrome
Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Sterile... ORPHA:3243
Rabson-Mendenhall Syndrome
Cardiomyopathy, Hypertrichosis, Premature graying of hair, Low anterior hairline, Hirsutism, Vent... ORPHA:769
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Whim Syndrome
Cellulitis, Lymphadenitis, Tetralogy of Fallot, Lymphopenia, Abnormal neutrophil morphology, Neut... ORPHA:51636
Psoriasis 14, Pustular
Cholangitis, Leukocytosis, Neutrophilia OMIM:614204
Pancreatic insufficiency, combined exocrine
Anasarca, Congestive heart failure OMIM:260450
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Anoperineal fistula, P... OMIM:301074
Restrictive Dermopathy 1
Sparse eyebrow, Short nail, Stillbirth, Hydropic placenta, Oligohydramnios, Short umbilical cord,... OMIM:275210
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Generalized muscle weakness, Gliosis, Ne... OMIM:256600
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hypertrichosis, Atrial septal defect, Unilateral breast hypoplasia, Recurrent respiratory infecti... OMIM:300968
Keutel Syndrome
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent bronchiti... OMIM:245150
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormal hair pattern, Umbilical hernia, Ventricular septal defect ORPHA:1770
Pseudo-Torch Syndrome 1
Patent ductus arteriosus, Patent foramen ovale, Umbilical hernia OMIM:251290
Filippi Syndrome
Aplastic/hypoplastic toenail, Ventricular septal defect, Small nail, Supernumerary nipple ORPHA:3255
Pallister-Hall Syndrome
Abnormal lung lobation, Neonatal death, Ventricular septal defect, Preductal coarctation of the a... OMIM:146510
Chromosome 10Q26 Deletion Syndrome
Small nail, Low posterior hairline, Atrial septal defect, Scapular winging, Patent ductus arteriosus OMIM:609625
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas, Irregular epiphyses, Sclerosis of skull base, Delayed pubic bone ossification, ... OMIM:618162
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Ulnar deviation of the 2nd finger, Hepatic s... OMIM:616263
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Secundum atrial septal defect, Muscle weakness OMIM:620242
Holoprosencephaly
Highly arched eyebrow, Spinal dysraphism, Tetralogy of Fallot, Thick eyebrow, Abnormal pulmonary ... ORPHA:2162
Cerebellar-Facial-Dental Syndrome
Sparse eyebrow, Foot joint contracture, Fine hair, Abnormal T-wave, Mitral valve prolapse, Ventri... ORPHA:444072
Cardiospondylocarpofacial Syndrome
Muscular ventricular septal defect, Congenital diaphragmatic hernia, Mitral regurgitation, Dyspla... OMIM:157800
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Osteopenia, Small hand, Hypopigmentation of the skin, Decreased testicular... ORPHA:398079
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cerebral cortical atrophy, Small nail, Elbow flexion contracture, Knee flexion contracture, Hip c... OMIM:300868
Distal Deletion 10Q
Facial diplegia, Hypoplastic toenails, Patent ductus arteriosus, Atrial septal defect, Scapular w... ORPHA:96148
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect OMIM:615630
Tbck-Related Intellectual Disability Syndrome
Global brain atrophy, Skeletal muscle atrophy, Thick eyebrow, Diastasis recti, Oligohydramnios, H... ORPHA:488632
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Patent ductus arteriosus after premature birth, Knee flexion co... OMIM:620454
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Pulmonary hypoplasia, Lymphedema, Abnormal heart valve morphology, Elbow f... ORPHA:536471
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia ORPHA:1302
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Low-set ears, Aplasia/Hypoplasia of the pancreas, Optic nerve hypoplasia ORPHA:65288
Thakker-Donnai Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Congenital diaphragmatic hernia, Ventri... ORPHA:1780
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Fanconi Anemia
Irregular hyperpigmentation, Arteriovenous malformation, Hypopigmented skin patches, Umbilical he... ORPHA:84
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Ventricular septal defect, Atrial septal defect, Hydrops fetalis, Pulmon... OMIM:263520
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Highly arched eyebrow, Supernumerary nipple, Hypertrichosis, Long eyelashes, Thick eyebrow, Recur... OMIM:213980
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Renal hypoplasia, Severe B lymphocytopenia, Exocrine pancreat... OMIM:620005
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect OMIM:610536
Trisomy 8P
Short fifth metatarsal, Short 1st metacarpal, Clinodactyly of the 2nd finger, Clinodactyly of hal... ORPHA:264450
Neurodegeneration With Brain Iron Accumulation 6
Neurodegeneration, Distal amyotrophy OMIM:615643
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Cerebral cortical atrophy, Hypopigmentation of the skin, Recurrent respira... ORPHA:177907
Tarp Syndrome
Tetralogy of Fallot, Thick eyebrow, Persistent left superior vena cava, Abnormal hair pattern, At... ORPHA:2886
Fructose Intolerance, Hereditary
Hyperbilirubinemia, Hepatic steatosis, Hyperuricemia, Cirrhosis, Hypophosphatemia, Hepatomegaly, ... OMIM:229600
Hypothyroidism, Congenital, Nongoitrous, 2
Goiter, Hyperbilirubinemia, Thyroid hypoplasia, Increased circulating thyroglobulin concentration... OMIM:218700
Fibrochondrogenesis 1
Joint contracture of the hand, Patent foramen ovale, Stillbirth, Camptodactyly, Hydrops fetalis OMIM:228520
Microcephaly 26, Primary, Autosomal Dominant
Recurrent pneumonia, Patent foramen ovale OMIM:619179
Meier-Gorlin Syndrome 7
Pulmonary hypoplasia, Second degree atrioventricular block, Breast aplasia, Thin eyebrow, Complet... OMIM:617063
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypertrichosis, Pancreatic lymphangiectasis, Ascites, Ventricular septal defect, Pulmonary lympha... ORPHA:1655
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Supernumerary nipple, Sparse body hair, Nail dystrophy, Sparse eyelashes, Absent eyelashes, Ventr... OMIM:106260
Cystinosis, Nephropathic
Pigmentary retinopathy, Rachitic rosary, Hypopigmentation of the skin, Decreased circulating carn... OMIM:219800
Campomelia, Cumming Type
Clubbing of toes, Abnormally ossified vertebrae, Bowing of the long bones, Brachydactyly, Abnorma... ORPHA:1318
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Death in childhood, Patent forame... OMIM:610505
Feingold Syndrome 1
Interrupted aortic arch, Ventricular septal defect, Polyhydramnios, Tricuspid stenosis, Patent du... OMIM:164280
Oeis Complex
Hydroureter, Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Hydronephrosis, Ambiguo... OMIM:258040
Axenfeld-Rieger Syndrome, Type 3
Patent ductus arteriosus, Atrial septal defect OMIM:602482
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Tricuspid regurgitation, Pulmonary arterial hypertension, Atrial septal defect, Ventricular septa... OMIM:620663
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Budd-Chiari synd... OMIM:127550
Ulnar-Mammary Syndrome
Camptodactyly of finger, Breast aplasia, Abnormal fingernail morphology, Decreased fertility, Hyp... ORPHA:3138
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral cortical atrophy, Skeletal muscle atrophy, Cerebellar atrophy, Cerebral atrophy, Neurode... OMIM:615157
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Johanson-Blizzard Syndrome
Intrahepatic cholestasis, Hepatic fibrosis, Fair hair, Exocrine pancreatic insufficiency, Portal ... OMIM:243800
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Absent brainstem auditory ... ORPHA:101085
Spinocerebellar Ataxia Type 7
Ophthalmoparesis, Cerebellar atrophy, Cerebral atrophy, Congestive heart failure, Ophthalmoplegia... ORPHA:94147
Lujo Hemorrhagic Fever
Hypotension, Oliguria, Shock, Lymphopenia, Leukopenia, Renal insufficiency, Leukocytosis, Thrombo... ORPHA:319213
Kleefstra Syndrome 1
Macroglossia, Recurrent respiratory infections, Conotruncal defect OMIM:610253
Meckel Syndrome 14
Hepatic fibrosis, Tricuspid regurgitation, Mitral regurgitation, Aplasia of the uterus, Ambiguous... OMIM:619879
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Beckwith-Wiedemann Syndrome
Otosclerosis, Polycythemia, Abnormal pancreas morphology, Hearing impairment, Exocrine pancreatic... ORPHA:116
Codas Syndrome
Ventricular septal defect ORPHA:1458
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Congestive heart failure ORPHA:90033
Den Hoed-De Boer-Voisin Syndrome
Global brain atrophy, Oligohydramnios, Thick eyebrow, Ventricular septal defect, Death in adolesc... OMIM:619229
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Immunodeficiency 23
Lymphopenia, Abscess, Eosinophilia, Vasculitis in the skin, Neutropenia, Membranoproliferative gl... OMIM:615816
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:52055
Oculodentodigital Dysplasia
Fine hair, Camptodactyly of finger, Abnormal fingernail morphology, Umbilical hernia, Curly hair,... ORPHA:2710
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Hypopigmentation of the skin, Fair hair, Cardiomyopathy, Abnormal heart morphology, Vit... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Hypopigmentation of the skin, Fair hair, Cardiomyopathy, Abnormal heart morphology, Vit... ORPHA:363958
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Death in childhood, Neonatal death, Absent eyelashes, Absent eyebrow, Atrial septal defect, Alope... OMIM:308205
Orofaciodigital Syndrome V
Tetralogy of Fallot, Recurrent respiratory infections, Ventricular septal defect OMIM:174300
Aica-Ribosiduria Due To Atic Deficiency
Secundum atrial septal defect OMIM:608688
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:614129
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Neurodegeneration, Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy OMIM:617672
Carney Complex
Abnormal sperm motility, Spotty hyperpigmentation, Congestive heart failure, Multiple lentigines,... ORPHA:1359
Ctcf-Related Neurodevelopmental Disorder
Highly arched eyebrow, Hypertrichosis, Long eyelashes, Pulmonary hemorrhage, Thick eyebrow, Mitra... ORPHA:363611
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect, Hirsutism OMIM:620073
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Death in infancy, Ventricular septal defect, ... OMIM:274000
2Q31.1 Microdeletion Syndrome
Cerebral cortical atrophy, Camptodactyly of finger, Abnormal hair morphology, Hypoplastic toenail... ORPHA:251014
Isolated Cleft Lip
Polyhydramnios, Situs inversus totalis, Umbilical hernia ORPHA:199302
1P36 Deletion Syndrome
Abnormality of the spleen, Hepatic steatosis, Cryptorchidism, Sensorineural hearing impairment, G... ORPHA:1606
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Highly arched eyebrow, Secundum atrial septal defect, Dilation of Virchow-Robin spaces, Camptodac... OMIM:619951
Generalized Pustular Psoriasis
Abnormality of the nail, Pedal edema, Congestive heart failure ORPHA:247353
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Esophageal Atresia
Bronchitis, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Polyhydramnios,... ORPHA:1199
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Ocular albinism, Abnormal thumb morphology, Cryptorchidism, Sensorineural ... ORPHA:2719
Agammaglobulinemia, X-Linked
Hearing impairment, Recurrent otitis media, Lymph node hypoplasia, B lymphocytopenia, Enteroviral... OMIM:300755
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cerebral cortical atrophy, Pigmentary retinopathy, Death in childhood, Ventricular septal defect,... OMIM:214100
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Tricuspid regurgitation, Lymphopenia, Corneal scarring, Vesicoureteral reflux, ... OMIM:618460
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Osteopenia, Small hand, Hypopigmentation of the skin, Decreased response t... ORPHA:98754
Duane-Radial Ray Syndrome
Pectoralis hypoplasia, Ventricular septal defect, Atrial septal defect, Small thenar eminence, Va... OMIM:607323
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Hypertrichosis, Tetralogy of Fallot, Atrioventricular canal defect, Ventric... ORPHA:508498
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
3Mc Syndrome 1
Highly arched eyebrow, Supernumerary nipple, Diastasis recti, Ventricular septal defect, Conjunct... OMIM:257920
Trichohepatoneurodevelopmental Syndrome
Thoracic hypertrichosis, Coarse hair, Cerebral atrophy, Long eyelashes, Ventricular septal defect... OMIM:618268
Schinzel-Giedion Syndrome
Low-set ears, Abnormal helix morphology, Overlapping toe, Overlapping fingers, Streak ovary, Radi... ORPHA:798
Sweeney-Cox Syndrome
Small nail, Patent foramen ovale, Low anterior hairline, Generalized hirsutism, Patent ductus art... OMIM:617746
Spondyloocular Syndrome
Lymphedema, Mitral valve prolapse, Low posterior hairline, Atrial septal defect, Dysplastic aorti... OMIM:605822
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Peripheral pulmonary artery stenosis, Recurrent respiratory infections, Ventricular... OMIM:619575
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic pulmonary valve, Cerebellar atrophy, Sparse lateral eyebrow, Ventricular septal defect OMIM:619103
Alveolar Echinococcosis
Biliary cirrhosis, Abnormal mesentery morphology, Portal hypertension, Hepatic cysts, Eosinophili... ORPHA:284
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Low-set ears, Overfolded helix, Cupped ear, Persistence of hemoglobin F OMIM:617101
Specc1L-Related Hypertelorism Syndrome
Highly arched eyebrow, Umbilical hernia, Tetralogy of Fallot, Thick eyebrow, Ventricular septal d... ORPHA:1519
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Osteopenia, Small hand, Hypopigmentation of the skin, Decreased response t... ORPHA:98793
Turner Syndrome Due To Structural X Chromosome Anomalies
Gastrointestinal angiodysplasia, Low posterior hairline, Bicuspid aortic valve, Atrial septal def... ORPHA:99413
Mosaic Monosomy X
Gastrointestinal angiodysplasia, Low posterior hairline, Bicuspid aortic valve, Atrial septal def... ORPHA:99228
Monosomy X
Gastrointestinal angiodysplasia, Low posterior hairline, Bicuspid aortic valve, Atrial septal def... ORPHA:99226
Turner Syndrome
Gastrointestinal angiodysplasia, Low posterior hairline, Bicuspid aortic valve, Atrial septal def... ORPHA:881
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
EEG with abnormally slow frequencies, Iris hypopigmentation, Hypopigmentation of the skin, EEG ab... ORPHA:98794
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Shortened PR interval, Ventricular septal hypertrophy, Wolff-Parkinson... OMIM:614947
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Supernumerary nipple, Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly... ORPHA:453504
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Dilated cardiomyopathy, Mitral regurgitation, Ventricular septal defect, A... ORPHA:261250
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Supernumerary nipple, Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly... ORPHA:352665
46,Xy Sex Reversal 4
Gonadal dysgenesis, Ureteropelvic junction obstruction, Hydronephrosis, Hypoplastic labia majora,... OMIM:154230
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Osteopenia, Small hand, Hypopigmentation of the skin, Decreased response t... ORPHA:177904
Robinow Syndrome
High anterior hairline, Small nail, Umbilical hernia, Abnormal heart morphology, Ventricular sept... ORPHA:97360
Orofaciodigital Syndrome Type 1
Finger syndactyly, Hearing impairment, Brittle hair, Foot polydactyly, Tarsal synostosis, Sparse ... ORPHA:2750
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Low-set ears, Optic atrophy, Annular pancreas, Small nail, Widow's peak, Cryptorchidism, Sensorin... OMIM:616975
Mycophenolate Mofetil Embryopathy
Coarctation of aorta, Hydrops fetalis, Congenital diaphragmatic hernia, Ventricular septal defect ORPHA:268249
Loeys-Dietz Syndrome 1
Descending thoracic aorta aneurysm, Hypoplasia of the musculature, Pulmonary artery aneurysm, Aor... OMIM:609192
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Horizontal eyebrow, Sparse anterior scalp hair, Long eyelashes, Congenital... ORPHA:96121
Exstrophy-Epispadias Complex
Penoscrotal transposition, Urinary incontinence, Renal hypoplasia, Bifid scrotum, Abnormal heart ... ORPHA:322
Diamond-Blackfan Anemia 21
Aortic regurgitation, Coarse hair, Horizontal eyebrow, Secundum atrial septal defect, Widow's pea... OMIM:620072
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Osteopenia, Small hand, Hypopigmentation of the skin, Decreased response t... ORPHA:177901
46,Xx Sex Reversal 2
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... OMIM:278850
Oculodentodigital Dysplasia
Dry hair, Fine hair, Joint contracture of the 5th finger, Arrhythmia, Atrial septal defect, Slow-... OMIM:164200
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:77298
Ramos-Arroyo Syndrome
High anterior hairline, Xerostomia, Atrial septal defect, Patent ductus arteriosus, Sparse scalp ... ORPHA:1051
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy OMIM:616881
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Mitral valve prolapse, Hypogonadotropic hypogonadism, Atrial septal de... ORPHA:251066
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyebrow, High anterior hairline, Small nail, Ventricular septal defect, Sparse eyelashes, ... OMIM:250410
Jacobsen Syndrome
Toe clinodactyly, Aplasia/Hypoplasia of the earlobes, Bone marrow hypocellularity, Toe syndactyly... ORPHA:2308
Short Stature-Micrognathia Syndrome
Cerebellar atrophy, Skeletal muscle hypertrophy, Ventricular septal defect OMIM:617164
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Camptodactyly of finger, Atrioventricular canal defect, Ventricular septal defect, Atrial septal ... ORPHA:3047
Phelan-Mcdermid Syndrome
Toenail dysplasia, Lymphedema, Long eyelashes, Thick eyebrow, Hypoplastic toenails, Ventricular s... OMIM:606232
Meckel Syndrome 12
Renal hypoplasia, Ureteral hypoplasia, Vaginal atresia, Hypoplasia of the uterus, Arthrogryposis ... OMIM:616258
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Low-set ears, Clinodactyly, HbH hemoglobin, Radial deviation of finger, Cryptorchidism, Sensorine... OMIM:301040
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Splenomegaly,... ORPHA:163746
Igg4-Related Thyroid Disease
Euthyroid goiter, Goiter, Sialadenitis, Hypocalcemia, Sclerosing cholangitis, Pancreatic fibrosis... ORPHA:64744
Yunis-Varon Syndrome
Aplasia/Hypoplasia of the nails, Sparse eyebrow, Cardiomyopathy, Tetralogy of Fallot, Renal arter... ORPHA:3472
16P13.11 Microdeletion Syndrome
Atrial septal defect, Camptodactyly of finger, Ventricular septal defect ORPHA:261236
21Q22.11Q22.12 Microdeletion Syndrome
Small nail, Nail dystrophy, Hypoplastic nipples, Atrial septal defect, Camptodactyly, Periorbital... ORPHA:261323
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Cryptorch... ORPHA:432
Wolf-Hirschhorn Syndrome
Highly arched eyebrow, High anterior hairline, Abdominal situs inversus, Abnormal heart valve mor... ORPHA:280
Diamond-Blackfan Anemia
Low-set ears, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Absent thum... ORPHA:124
Gabriele-De Vries Syndrome
Aortopulmonary collateral arteries, Sparse eyebrow, Frontal upsweep of hair, Patent foramen ovale... OMIM:617557
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Supernumerary nipple, Tricuspid regurgitation, Abnormal left ventricle morphology, Patent foramen... ORPHA:466791
Down Syndrome
Secundum atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Atrioventricular canal defe... ORPHA:870
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycardia, Flexion contracture, Hyp... OMIM:614653
Phace Syndrome
Aortic root aneurysm, Abnormal heart morphology, Tetralogy of Fallot, Abnormal cerebral artery mo... ORPHA:42775
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Right atrial enlargement, Atrial septal defect OMIM:615219
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ... ORPHA:449432
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Pulmonary cyst, Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent sino... OMIM:147060
Wiskott-Aldrich Syndrome
Nephropathy, Decreased mean platelet volume, Epistaxis, Decreased proportion of CD8-positive T ce... OMIM:301000
Helsmoortel-Van Der Aa Syndrome
High anterior hairline, Abnormal heart morphology, Mitral regurgitation, Mitral valve prolapse, A... OMIM:615873
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Increased urinary potassium, Intracranial hemorrhage, H... ORPHA:231625
Satoyoshi Syndrome
Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u... ORPHA:3130
Distal Deletion 19P
Alopecia, Umbilical hernia, Thick eyebrow, Ventricular septal defect, Tricuspid valve prolapse, P... ORPHA:96129
Alagille Syndrome 1
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal artery stenosis, Ventricular sep... OMIM:118450
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Recurrent pneumonia, Congestive heart failure, Arterial rupture, Mus... OMIM:225400
Jacobsen Syndrome
Low-set ears, Optic atrophy, Annular pancreas, Cryptorchidism, Missing ribs, Brachydactyly, Throm... OMIM:147791
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Prader-Willi Syndrome
Small pituitary gland, Osteopenia, Small hand, Hypopigmentation of the skin, Decreased response t... ORPHA:739
Friedreich Ataxia 2
Congestive heart failure, Muscular subvalvular aortic stenosis, Abnormal EKG, Concentric hypertro... OMIM:601992
Zttk Syndrome
Aortic regurgitation, Sparse eyebrow, Ventricular septal defect, Broad eyebrow, Unilateral lung a... OMIM:617140
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Cornelia De Lange Syndrome 6
Highly arched eyebrow, Sparse eyebrow, Atrioventricular canal defect, Frontal upsweep of hair, Ve... OMIM:620568
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Codas Syndrome
Atrioventricular canal defect, Polyhydramnios, Atrial septal defect, Ventricular septal defect OMIM:600373
Mosaic Variegated Aneuploidy Syndrome 1
Embryonal rhabdomyosarcoma, Oligohydramnios, Atrial septal defect, Pulmonic stenosis OMIM:257300
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Patent ductus arteriosus,... OMIM:277600
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Abnormal hemoglobin, Cryptorchidism, Sensorineural hearing impairment, Aganglionic... ORPHA:847
Microgastria-Limb Reduction Defect Syndrome
Abnormal lung lobation, Congenital muscular torticollis, Atrial septal defect, Truncus arteriosus ORPHA:2538
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Highly arched eyebrow, Thick eyebrow, Ventricular septal defect, Limb hyper... OMIM:609460
Hand-Foot-Genital Syndrome
Miscarriage, Ventricular septal defect ORPHA:2438
Distal Deletion 12Q
Low-set ears, Annular pancreas, Broad hallux, Pituitary adenoma, Bilateral conductive hearing imp... ORPHA:96149
Neurocardiofaciodigital Syndrome
Sparse eyebrow, Tetralogy of Fallot, Atrial septal defect, Double inlet left ventricle, Sparse ha... OMIM:619869
Turnpenny-Fry Syndrome
Aortic regurgitation, Melanocytic nevus, Polyhydramnios, Carotid artery tortuosity, Mitral valve ... OMIM:618371
Alzheimer Disease 9, Susceptibility To
Cerebral cortical atrophy, Senile plaques, Neurofibrillary tangles, Hippocampal atrophy OMIM:608907
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary OMIM:612310
Campomelia, Cumming Type
Bowing of the long bones, Pancreatic cysts, Polycystic liver disease, Polysplenia OMIM:211890
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Umbilical hernia, Tricuspid regurgitation, Diastasis recti, Mitral regurgit... OMIM:601776
Donnai-Barrow Syndrome
Diaphragmatic eventration, Umbilical hernia, Congenital diaphragmatic hernia, Ventricular septal ... OMIM:222448
Neurofibromatosis-Noonan Syndrome
Inguinal freckling, Secundum atrial septal defect, Muscle weakness, Low posterior hairline, Optic... OMIM:601321
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Cohen Syndrome
Long eyelashes, Thick eyebrow, Abnormality of retinal pigmentation, Mitral valve prolapse, Low an... ORPHA:193
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Camptodactyly, Flexion contracture, Atrial septal defect OMIM:207410
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Oligohydramnios, Polyhydramnios, Ventricular septal defect, Atrial... OMIM:300373
Koolen-De Vries Syndrome
Cryptorchidism, Arachnodactyly, Protruding ear, Abnormality of hair texture, Overfolded helix, Hy... ORPHA:96169
Ataxia-Telangiectasia
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho... OMIM:208900
Townes-Brocks Syndrome 2
Crossed fused renal ectopia, Vesicoureteral reflux, Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Fanconi Anemia, Complementation Group N
Hyperpigmentation of the skin, Cafe-au-lait spot, Atrial septal defect, Ventricular septal defect OMIM:610832
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Hypotension, Subconjunctival hemorrhage, Shock, Lymphopeni... ORPHA:99826
Trisomy 18
Camptodactyly of finger, Oligohydramnios, Congenital diaphragmatic hernia, Abnormality of retinal... ORPHA:3380
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Highly arched eyebrow, Frontal balding, Muscular ventricular septal defect,... OMIM:612474
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Partial albinism, Melanocyt... ORPHA:79430
Chime Syndrome
Cerebral cortical atrophy, Fine hair, Tetralogy of Fallot, Ventricular septal defect, Transpositi... ORPHA:3474
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Atrioventricular canal defect, Increased nuchal translucency, Congenital ... ORPHA:818
Simpson-Golabi-Behmel Syndrome
Small nail, Cardiomyopathy, Supernumerary nipple, Bundle branch block, Camptodactyly of finger, U... ORPHA:373
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo... OMIM:202010
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Arrhythmia, Ketonuria, Abnormal EKG ORPHA:480864
Teebi-Shaltout Syndrome
Aortic valve stenosis, Highly arched eyebrow, Low anterior hairline, Ventricular septal defect, S... OMIM:272950
Immunodeficiency 31C
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Impaired lymphocyte transformation with p... OMIM:614162
Meckel Syndrome
Accessory spleen, Optic atrophy, Postaxial foot polydactyly, Preaxial hand polydactyly, Low-set, ... ORPHA:564
Zellweger Syndrome
Death in infancy, Ventricular septal defect ORPHA:912
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in females, Hypernatriuria, Hypotension, Sho... ORPHA:90794
Congenital Disorder Of Glycosylation, Type Iia
Long eyelashes, Thick eyebrow, Ventricular septal defect, Hirsutism, Sparse hair OMIM:212066
Paternal Uniparental Disomy Of Chromosome 6
Umbilical hernia, Oligohydramnios, Ventricular septal defect, Cardiomegaly, Macroglossia, Patent ... ORPHA:96191
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Highly arched eyebrow, Arteria lusoria, Supernumerary nipple, Oligohydramnios, Patent foramen ova... OMIM:618653
Omodysplasia 1
Pulmonary artery stenosis, Umbilical hernia, Atrial septal defect, Ventricular septal defect OMIM:258315
Diamond-Blackfan Anemia 10
Morgagni diaphragmatic hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Ventric... OMIM:613309
Chromosome 1P36 Deletion Syndrome, Distal
Cerebral cortical atrophy, Dilated cardiomyopathy, Horizontal eyebrow, Aortic root aneurysm, Camp... OMIM:607872
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Highly arched eyebrow, Contracture of the proximal interphalangeal joint of the 3rd finger, Conge... OMIM:301044
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Perlman Syndrome
Interrupted aortic arch, Ascites, Congenital diaphragmatic hernia, Polyhydramnios, Hypoplasia of ... OMIM:267000
Arboleda-Tham Syndrome
Highly arched eyebrow, Recurrent aspiration pneumonia, Secundum atrial septal defect, Sparse medi... OMIM:616268
Okamoto Syndrome
Aortic valve stenosis, Urinary incontinence, Abnormal heart morphology, Abnormal left ventricle m... ORPHA:2729
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Elbow flexion contracture, Knee flexion contracture, Hip contracture, Ventricu... OMIM:178110
Larsen Syndrome
Short nail, Ventricular septal defect, Aortic aneurysm, Atrial septal defect, Spina bifida occulta OMIM:150250
Hajdu-Cheney Syndrome
Aortic valve stenosis, Coarse hair, Umbilical hernia, Abnormal fingernail morphology, Thick eyebr... ORPHA:955
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyebrow, Coarse hair, Dystrophic toenail, Supernumerary nipple, Hyperconvex fingernails, G... ORPHA:1071
Chromosome 14Q11-Q22 Deletion Syndrome
Patent foramen ovale, Ventricular septal defect, Poor head control, Macroglossia, Patent ductus a... OMIM:613457
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Neurodegeneration, Cutaneous telangiectasia, Congenital diaphragmatic hernia,... OMIM:615919
Ring Chromosome 12 Syndrome
Breast hypoplasia, Secundum atrial septal defect, Dystrophic toenail, Hirsutism ORPHA:1439
Lateral Meningocele Syndrome
Low posterior hairline, Meningocele, Umbilical hernia, Ventricular septal defect ORPHA:2789
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Charge Syndrome
Interrupted aortic arch, Highly arched eyebrow, Umbilical hernia, Tetralogy of Fallot, Aortic arc... ORPHA:138
Pmm2-Cdg
Anasarca, Aspiration pneumonia, Hypertrophic cardiomyopathy, Lymphedema, Multiple joint contractu... ORPHA:79318
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gal... OMIM:601346
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Ureteral agenesis, Hypoplasia of the uterus, Renal hypoplasia OMIM:617914
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Finger syndactyly, Overfolded helix, Down-sloping shoulders, Brachydactyly... ORPHA:1974
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Spastic Paraplegia 79B, Autosomal Recessive
Ophthalmoparesis, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Flexion contracture OMIM:615491
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Ellis-Van Creveld Syndrome
Common atrium, Atrial septal defect OMIM:225500
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Inguinal hernia, Aplasia of the vagina, Hydronephrosis, Aplasia of the... OMIM:271520
Combined Immunodeficiency-Enteropathy Spectrum
Congenital pulmonary airway malformation, Alopecia of scalp, Nail dystrophy, Ventricular septal d... ORPHA:436252
Chromosome 16P13.3 Duplication Syndrome
Tetralogy of Fallot, Facial hypotonia, Hirsutism, Ventricular septal defect, Low anterior hairlin... OMIM:613458
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Aplasia of the uterus, ... OMIM:614083
C Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:211750
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Pancreatic hypoplasia, Exocrine pancreat... OMIM:137920
Congenital Disorder Of Glycosylation, Type Iim
Cerebral atrophy, Oligohydramnios, Thick eyebrow, Atrial septal defect, Poor head control, Hypert... OMIM:300896
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology ORPHA:247768
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Reduced C-peptide level, Pancreatic hypoplasia, Pancreatic apl... OMIM:260370
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Dilatation of the ventricular cavity, Polyhydramnios, Ventricular septal defect, Hirsutism, Pulmo... ORPHA:459070
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Ankle flexion contracture, Aortic regurgitation, Oligohydramnios, Ventricu... ORPHA:464311
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Gliosis, Neurofibrillary tangles, Neuronal loss in central nervous system OMIM:607485
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Stage 5 chronic kidney... OMIM:614527
Duane Retraction Syndrome
Irregular hyperpigmentation, Hearing impairment, Hypopigmented skin patches, Preaxial hand polyda... ORPHA:233
Perrault Syndrome 4
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus OMIM:615300
Cerebellofaciodental Syndrome
Sparse eyebrow, Ventricular septal defect, Fine hair, Mitral valve prolapse OMIM:616202
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Enlarged polycystic ovaries, Ambig... ORPHA:90796
Hypothyroidism, Congenital, Nongoitrous, 5
Mitral regurgitation, Patent foramen ovale OMIM:225250
Hydrolethalus Syndrome 1
Abnormal lung lobation, Complete atrioventricular canal defect, Ventricular septal defect, Agenes... OMIM:236680
Frontometaphyseal Dysplasia 2
Decreased muscle mass, Elbow contracture, Thick eyebrow, Hip contracture, Hirsutism, Low anterior... OMIM:617137
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Camptodactyly of finger, Tricuspid regurgitation, Palpebral edema, Hypoplastic... ORPHA:261337
Krabbe Disease
Neurodegeneration, Diffuse cerebral atrophy OMIM:245200
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Global brain atrophy, Neurofibrillary tangles, Amyotrophic lateral sclerosis OMIM:619132
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Aortic regurgitation, Cerebral cortical atrophy, Breast hypoplasia, Oligoh... ORPHA:464306
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Inguinal freckling, Hypertrophic cardiomyopathy, Abnormal heart morphology, Mitral regurgitation,... ORPHA:363700
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Unilateral renal agenesis, Gonadal dysgenesis, Hypoplastic labia majora, Omphal... OMIM:618419
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Short nail, Cardiomyopathy, Supernumerary nipple, Hypert... OMIM:312870
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
High anterior hairline, Dilation of Virchow-Robin spaces, Thick eyebrow, Low anterior hairline, A... OMIM:619512
Coffin-Siris Syndrome 1
Facial hypertrichosis, Dry hair, Hypertrichosis, Tetralogy of Fallot, Umbilical hernia, Long eyel... OMIM:135900
Intellectual Developmental Disorder, Autosomal Dominant 53
Frontal upsweep of hair, Ventricular septal defect OMIM:617798
Penile Agenesis
Bilateral lung agenesis, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Pulmon... ORPHA:49
Pancreatic Agenesis-Holoprosencephaly Syndrome
Low-set ears, Hypoamylasemia, Absent gallbladder, Reduced C-peptide level, Aplasia/Hypoplasia of ... ORPHA:556955
3Q29 Microduplication Syndrome
Camptodactyly of toe, Ventricular septal defect ORPHA:251038
Williams-Beuren Syndrome
Small nail, Premature graying of hair, Mitral regurgitation, Mitral valve prolapse, Ventricular s... OMIM:194050
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Sparse eyebrow, High anterior hairline, Hypertrichosis, Supernumerary nipple, Lower limb hyperton... ORPHA:477993
Sotos Syndrome
Ankle flexion contracture, Small cell lung carcinoma, Hypopigmentation of the skin, Small nail, C... ORPHA:821
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anomalous origin of left subclavian artery, Aspiration pneumonia, Abnormal heart morphology, Pate... ORPHA:438213
Primary Sjögren Syndrome
Normocytic anemia, Vasculitis, Arteritis, Biliary cirrhosis, Chronic active hepatitis, Lymphopeni... ORPHA:289390
Femoral-Facial Syndrome
Camptodactyly of finger, Encephalocele, Truncus arteriosus, Ventricular septal defect, Coarctatio... OMIM:134780
Cornelia De Lange Syndrome 1
Pneumonia, Highly arched eyebrow, Elbow flexion contracture, Long eyelashes, Curly eyelashes, Con... OMIM:122470
Bohring-Opitz Syndrome
Optic atrophy, Cholelithiasis, Annular pancreas, Hypertrichosis, Low-set, posteriorly rotated ear... ORPHA:97297
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:620558
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Horizontal eyebrow, Abnormal location of the eyebrow, Atrial septal defect, Progressive flexion c... ORPHA:522077
Cerebral Visual Impairment
Neurodegeneration, Intracranial hemorrhage, Ischemic stroke, Central nervous system degeneration ORPHA:447788
Kabuki Syndrome 1
Highly arched eyebrow, Sparse eyebrow, Prominent eyelashes, Ventricular septal defect, Hirsutism,... OMIM:147920
Woodhouse-Sakati Syndrome
Abnormal T-wave, Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia... OMIM:241080
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Cigarette-paper scars, Uterine rupture, Arterial rupture, Cystocele,... OMIM:130050
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus, Omphalocele ORPHA:2736
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Death in infancy, Ventricular septal defect, Spina bifida, Men... ORPHA:1393
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Senile plaques, Neurofibrillary tangles DECIPHER:48
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Sparse eyebrow, Global brain atrophy, Abnormal heart morphology, Emphysema, Transient ischemic at... ORPHA:500150
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Senile plaques, Neurofibrillary tangles OMIM:605055
Coffin-Lowry Syndrome
Highly arched eyebrow, Bifid sternum, Coarse hair, Hearing impairment, Hyperconvex fingernails, T... OMIM:303600
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Mowat-Wilson Syndrome
Supernumerary nipple, Abnormal heart morphology, Ventricular septal defect, Pulmonary artery slin... OMIM:235730
Autosomal Recessive Polycystic Kidney Disease
Low-set ears, Hepatic fibrosis, Periportal fibrosis, Cholestasis, Hepatosplenomegaly, Hyperspleni... ORPHA:731
Distal Deletion 6P
Atrial septal defect ORPHA:96125
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hearing impairment, Abnormality of exocrine pancreas physiology, Hepatic steatosis, Aplasia/Hypop... ORPHA:93111
Rett Syndrome
Prolonged QTc interval, Abnormal T-wave OMIM:312750
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short nail, Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Atrial septal... OMIM:271640
Nijmegen Breakage Syndrome
Progressive vitiligo, Recurrent pneumonia, Glioma, Retinal pigment epithelial mottling, Neurodege... OMIM:251260
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Gerstmann-Straussler Disease
Cerebellar atrophy, Neurofibrillary tangles, Lower limb muscle weakness OMIM:137440
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Cerebral cortical atrophy, Abnormal heart morphology... ORPHA:268261
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis, Neurofibrillary tangles OMIM:606688
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Patent ductus arteriosus, Mitral regurgitation, Patent foramen ovale ORPHA:457395
Tropical Pancreatitis
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... ORPHA:103918
Thauvin-Robinet-Faivre Syndrome
Mitral valve prolapse, Ventricular septal defect, Varicose veins, Macroglossia, Pedal edema OMIM:617107
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Exercise-Induced Malignant Hyperthermia
Hypotension, Acute kidney injury, Oliguria, Abnormal pulse pressure, Sinus tachycardia, Abnormal ... ORPHA:466650
Mandibuloacral Dysplasia Progeroid Syndrome
Sparse eyebrow, Tricuspid regurgitation, Mitral regurgitation, Nail dystrophy, Patent foramen ova... OMIM:619127
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Gm2 Gangliosidosis, Ab Variant
Neurodegeneration, Cerebral atrophy, Cherry red spot of the macula ORPHA:309246
Cerebrocostomandibular Syndrome
Elbow flexion contracture, Ventricular septal defect, Atrial septal defect, Polyhydramnios, Paten... OMIM:117650
Woodhouse-Sakati Syndrome
Abnormal T-wave, Hypogonadism, Decreased testicular size, Streak ovary, Abnormal spermatogenesis,... ORPHA:3464
Opitz Gbbb Syndrome
Umbilical hernia, Widow's peak, Ventricular septal defect OMIM:300000
Pallister-Killian Syndrome
Aortic valve stenosis, Hyperpigmented streaks, Supernumerary nipple, Congenital diaphragmatic her... OMIM:601803
Alkaptonuria
Irregular hyperpigmentation, Black pigment gallstones, Reduced bone mineral density, Methemoglobi... ORPHA:56
Coffin-Siris Syndrome 12
Highly arched eyebrow, High anterior hairline, Small nail, Hippocampal atrophy, Tetralogy of Fall... OMIM:619325
Chilton-Okur-Chung Neurodevelopmental Syndrome
Epistaxis, Highly arched eyebrow, Sparse eyebrow, Sparse lateral eyebrow, Aplasia of the right he... OMIM:619841
Pancreas, Annular
Annular pancreas OMIM:167750
Annular Pancreas
Annular pancreas ORPHA:675
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Hypoplasia of the uterus ORPHA:785
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Secundum atrial septal defect, Neurodegeneration, Hirsutism, Chordee, Gliosis, Patent ductus arte... OMIM:620455
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Flexion contracture, Ventricular septal defect OMIM:619306
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Hyperpigmentation of the skin, Flexion contracture, Cafe-au-lait spot,... OMIM:227645
Hajdu-Cheney Syndrome
Short nail, Umbilical hernia, Long eyelashes, Thick eyebrow, Hirsutism, Ventricular septal defect... OMIM:102500
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein, Cerebral cortical atrophy, Neurofibrillary tangles ORPHA:1020
Cornelia De Lange Syndrome
Highly arched eyebrow, Cerebral cortical atrophy, Long eyelashes, Curly eyelashes, Thick eyebrow,... ORPHA:199
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Primary amenorrhea, Multiple pulmonary cysts, Weakness of facial musculature, Ventricular septal ... OMIM:619418
Menkes Disease
Bowing of the long bones, Woolly hair, Prolonged neonatal jaundice, Osteoporosis, Tarsal synostos... ORPHA:565
Pancreatic And Cerebellar Agenesis
Flexion contracture, Secundum atrial septal defect, Death in infancy OMIM:609069
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Umbilical hernia, Ventricular septal defect, Diffuse cerebral atrophy, Poor h... ORPHA:1934
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Total anomalous pulmonary venous return, Knee flexion contracture, Atrial septal defect, Torticollis OMIM:609945
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Aortic regurgitation, Sparse eyebrow, Highly arched eyebrow, Ventricular h... OMIM:143095
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia, Elevated circulating luteinizing hormone level OMIM:250790
Schinzel-Giedion Midface Retraction Syndrome
Cerebral atrophy, Hypertrichosis, Hypoplastic nipples, Atrial septal defect, Hyperconvex nail, Ma... OMIM:269150
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Nail dysplasia, Cerebral hemorrhage, Sparse hair, Patent ductus arteri... OMIM:616682
Bent Bone Dysplasia Syndrome 2
Arthrogryposis multiplex congenita, Atrial septal defect OMIM:620076
Bardet-Biedl Syndrome 20
Atrial septal defect OMIM:619471
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cardiomyopathy, Hypertrichosis, Brain atrophy, Hypoplastic nipples, Atrial septal defect, Curly h... ORPHA:480880
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal right ventricle morphology, Mitral valve prolapse, Ventricular septal defect, Spina bifi... ORPHA:500095
Neurodegeneration With Brain Iron Accumulation 5
Neurodegeneration, Cerebellar atrophy, Cerebral atrophy OMIM:300894
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Small nail, Thin eyebrow, Oligohydramnios, Ventricular septal defect, Ventricular septal hypertro... OMIM:608670
Neurodegeneration With Brain Iron Accumulation 2B
Neurodegeneration, Cerebellar atrophy, Neurofibrillary tangles, Cerebral atrophy OMIM:610217
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Unilateral renal agenesis, Inguinal hernia, Aplasia of the vagina ORPHA:457284
Thymoma
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis ORPHA:99867
Pallister-Hall Syndrome
Abnormal lung lobation, Atrioventricular canal defect, Umbilical hernia, Oligohydramnios, Ventric... ORPHA:672
Alzheimer Disease 3
Cerebral cortical atrophy, Neurofibrillary tangles OMIM:607822
Bartsocas-Papas Syndrome 1
Alopecia, Small nail, Alopecia totalis, Patent foramen ovale, Absent eyelashes, Absent eyebrow, A... OMIM:263650
Estrogen Resistance
Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Acrofacial Dysostosis, Cincinnati Type
Pulmonary artery aneurysm, Biventricular hypertrophy, Thick eyebrow, Partial atrioventricular can... OMIM:616462
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Polyhydramnios, Patent ductus arteriosus, Patent foramen ovale, Synophrys OMIM:300990
Pseudoaminopterin Syndrome
Highly arched eyebrow, Frontal upsweep of hair, Fatigable weakness, Patent foramen ovale, Ophthal... ORPHA:221120
Vater/Vacterl Association
Occipital encephalocele, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... OMIM:192350
Mosaic Trisomy 20
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect, Hypopigm... ORPHA:1724
Gm2-Gangliosidosis, Ab Variant
Neurodegeneration, Cerebral atrophy, Poor head control OMIM:272750
Acrofacial Dysostosis 1, Nager Type
Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular septal defect, Patent ductus ar... OMIM:154400
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Sparse eyebrow, Alopecia, Secundum atrial septal defect, Small nail, Recurrent respira... OMIM:264090
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... ORPHA:284339
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Steatorrhea, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Von Hippel-Lindau Syndrome
Polycythemia, Pheochromocytoma, Sensorineural hearing impairment, Tinnitus, Hepatic hemangioma, P... OMIM:193300
Alström Syndrome
Irregular menstruation, Recurrent pneumonia, Dilated cardiomyopathy, Frontal balding, Recurrent u... ORPHA:64
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrial septal defect OMIM:250220
Supranuclear Palsy, Progressive, 2
Neurofibrillary tangles, Retrocollis, Gliosis, Neuronal loss in central nervous system, Granulova... OMIM:609454
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... OMIM:119500
Genitopatellar Syndrome
Hip contracture, Knee flexion contracture, Ventricular septal defect, Atrial septal defect, Polyh... OMIM:606170
Otopalatodigital Syndrome, Type Ii
Umbilical hernia, Elbow contracture, Atrial septal defect, Spina bifida, Stillbirth, Dilatation o... OMIM:304120
Alternating Hemiplegia Of Childhood
Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave ORPHA:2131
Gabriele-De Vries Syndrome
Sparse eyebrow, Breast hypoplasia, Distal lower limb amyotrophy, Frontal upsweep of hair, Patent ... ORPHA:506358
Roberts-Sc Phocomelia Syndrome
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Ventricular septa... OMIM:268300
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal hypoplasia, Urethral valve, Bifid scrotum, Umbilical hernia, ... OMIM:107480
Parkinson Disease 23, Autosomal Recessive Early-Onset
Cerebral cortical atrophy, Neurofibrillary tangles OMIM:616840
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect, Patent duc... OMIM:613355
Microphthalmia, Syndromic 3
Patent ductus arteriosus, Ventricular septal defect OMIM:206900
Neurodegeneration With Brain Iron Accumulation 4
Distal amyotrophy, Cerebellar atrophy, Neurodegeneration, Scapular winging, Distal muscle weakness OMIM:614298
Alzheimer Disease, Familial, 1
Neurofibrillary tangles OMIM:104300
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Neurodegeneration, Global brain atrophy, Axonal degeneration ORPHA:478029
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Neurodegeneration, Long eyelashes OMIM:618476
Alzheimer Disease 2
Neurofibrillary tangles OMIM:104310
Wolf-Hirschhorn Syndrome
Precocious puberty, Accessory spleen, Cryptorchidism, Ventricular septal defect, Biliary tract ab... OMIM:194190
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Chromosome 13Q14 Deletion Syndrome
Umbilical hernia, Patent foramen ovale, Ventricular septal defect OMIM:613884
Peters-Plus Syndrome
Facial hypertrichosis, Cerebral atrophy, Umbilical hernia, Diastasis recti, Ventricular septal de... OMIM:261540
Neurodegeneration With Brain Iron Accumulation 3
Neurodegeneration, Hypomimic face OMIM:606159
Orofaciodigital Syndrome Xiv
Patent ductus arteriosus, Occipital encephalocele, Atrial septal defect, Ventricular septal defect OMIM:615948
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus OMIM:615866
Multiple System Atrophy 1, Susceptibility To
Neurodegeneration, Impotence, Skeletal muscle atrophy, Orthostatic hypotension OMIM:146500
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:609441
Diphallia
Abnormal heart morphology, Atrial septal defect ORPHA:227
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Joint contracture of the hand, Vesicovaginal fistula, Bifid ... OMIM:201750
Yunis-Varon Syndrome
Aplasia/Hypoplasia of the nails, Sparse eyebrow, Absent nipple, Cardiomyopathy, Aspiration pneumo... OMIM:216340
Ulnar-Mammary Syndrome
Axillary apocrine gland hypoplasia, Sparse lateral eyebrow, Elbow flexion contracture, Breast hyp... OMIM:181450
Neuroocular Syndrome 1
Highly arched eyebrow, Small nail, Umbilical hernia, Long eyelashes, Thick eyebrow, Patent forame... OMIM:619539
Loeys-Dietz Syndrome
Cardiac arrest, Atypical scarring of skin, Uterine rupture, Camptodactyly of finger ORPHA:60030
Craniorachischisis
Bifid sternum ORPHA:63260
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus ORPHA:1521
Vascular Ehlers-Danlos Syndrome
Cigarette-paper scars, Uterine rupture, Umbilical hernia, Abnormal heart valve morphology, Transi... ORPHA:286
Adult-Onset Dystonia-Parkinsonism
Generalized cerebral atrophy/hypoplasia, Frontotemporal cerebral atrophy, Neurofibrillary tangles... ORPHA:199351
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Hypoplastic toenails, Ventricular septal defect, Chordee, Atrial septal defect, Patent ductus art... OMIM:619522
Townes-Brocks Syndrome
Tetralogy of Fallot, Abnormal pulmonary valve morphology, Atrial septal defect, Abnormal cardiac ... ORPHA:857
Congenital Disorder Of Glycosylation, Type Iiw
Tetralogy of Fallot, Ventricular septal defect OMIM:619525
Faciocardiomelic Syndrome
Common atrium, Short eyelashes OMIM:612731
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Alzheimer Disease 4
Senile plaques, Neurofibrillary tangles OMIM:606889
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Recurrent pneumonia, Umbilical hernia, Few cafe-au-lait spots, Recurrent bronchitis, Ventricular ... OMIM:620330
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Highly arched eyebrow, Hyphema, Abnormal heart morphology, Tetralogy of Fa... ORPHA:261552
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect OMIM:619727
Peters Plus Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Umbilical hernia, Inguinal hernia, Cryptorc... ORPHA:709
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration ORPHA:79244
Proboscis Lateralis
Abnormal eyebrow morphology, Abnormal location of the eyebrow, Patent ductus arteriosus, Ventricu... ORPHA:141099
Orofaciodigital Syndrome Type 14
Patent ductus arteriosus, Ventricular septal defect ORPHA:434179
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Recurrent pneumonia, Secundum atrial septal defect, Vascular tortuosity, Multiple joint contractu... ORPHA:99646
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus OMIM:110100
Neurodegeneration With Brain Iron Accumulation 1
Pigmentary retinopathy, Global brain atrophy, Decreased muscle mass, Neurodegeneration, Myopathy,... OMIM:234200
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Elbow flexion contracture, Cryptorchidism, Aplasia of the uterus, Anteriorly displ... OMIM:276820
Primrose Syndrome
Distal amyotrophy, Skeletal muscle atrophy, Sparse body hair, Neurodegeneration, Hip contracture,... OMIM:259050
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Neurofibrillary tangles OMIM:117300
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:572333
Norrie Disease
Uterine rupture, Cryptorchidism ORPHA:649

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.

Phenotype Allele Zygosity Sex Life Stage
Liver - MPATH pathological process term vacuolation Mgrn1em1(IMPC)Tcp HOM Early adult
Brain - MPATH pathological process term necrosis Mgrn1em1(IMPC)Tcp HOM Early adult
Liver - MPATH pathological process term necrosis Mgrn1em1(IMPC)Tcp HOM Early adult
Brain - MPATH pathological process term vacuolation Mgrn1em1(IMPC)Tcp HOM Early adult

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 Mgrn1.

No publications found that use IMPC mice or data for Mgrn1.

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
Mgrn1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mgrn1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Mgrn1tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Mgrn1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Mgrn1em1(IMPC)Tcp Exon Deletion Mice

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