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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
increased heart weight Mgrn1em1(IMPC)Tcp HET   Early adult 2.04×10-05
decreased bone mineral content Mgrn1em1(IMPC)Tcp HOM   Early adult 2.04×10-08
increased spleen weight Mgrn1em1(IMPC)Tcp HET Early adult 9.01×10-23
increased lymphocyte cell number Mgrn1em1(IMPC)Tcp HET Early adult 5.57×10-05
abnormal cranium morphology Mgrn1em1(IMPC)Tcp HOM Early adult 9.99×10-05
increased circulating bilirubin level Mgrn1em1(IMPC)Tcp HOM   Early adult 1.48×10-10
increased neutrophil cell number Mgrn1em1(IMPC)Tcp HET Early adult 1.90×10-09
increased circulating alkaline phosphatase level Mgrn1em1(IMPC)Tcp HOM   Early adult 6.35×10-13
abnormal auditory brainstem response Mgrn1em1(IMPC)Tcp HOM   Early adult 3.58×10-10
increased mean corpuscular hemoglobin Mgrn1em1(IMPC)Tcp HOM   Early adult 1.64×10-07
shortened QRS complex duration Mgrn1em1(IMPC)Tcp HET Early adult 1.06×10-06
preweaning lethality, incomplete penetrance Mgrn1em1(IMPC)Tcp HOM   Early adult 0.00
abnormal coat/hair pigmentation Mgrn1em1(IMPC)Tcp HOM Early adult 3.96×10-09
abnormal bone structure Mgrn1em1(IMPC)Tcp HOM   Early adult 3.53×10-06
abnormal skin coloration Mgrn1em1(IMPC)Tcp HOM Early adult 9.10×10-05
abnormal ear morphology Mgrn1em1(IMPC)Tcp HOM Early adult 1.76×10-11
decreased total body fat amount Mgrn1em1(IMPC)Tcp HET Early adult 8.75×10-05
decreased lymphocyte cell number Mgrn1em1(IMPC)Tcp HET Early adult 3.17×10-08

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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 Lateral Orientation

16 Images

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Eye Morphology

Images Slit Lamp

19 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 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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Combined SHIRPA and Dysmorphology

Images

4 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
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
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
Book Syndrome
Premature graying of hair OMIM:112300
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... OMIM:214450
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair OMIM:126070
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Left Isomerism, Atrioventricular canal defect, Un... OMIM:618300
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Immunodeficiency 40
Lymphopenia OMIM:616433
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Chronic lung disease, Cough, Recurrent lower respiratory tract inf... OMIM:618254
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Scimitar Syndrome
Respiratory distress, Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous retu... ORPHA:185
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... OMIM:613854
Partial Atrioventricular Septal Defect
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... ORPHA:1330
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Heart murmur, Ventricular septal ... ORPHA:99050
Cardiomyopathy, Familial Hypertrophic, 15
Myofiber disarray, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricu... OMIM:613255
Ciliary Dyskinesia, Primary, 37
Wheezing, Chronic rhinitis, Dextrocardia, Situs inversus totalis, Rhinorrhea, Bronchiectasis, Rig... OMIM:617577
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... OMIM:619702
Immunodeficiency 8
Lymphopenia OMIM:615401
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... OMIM:607482
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Abnormal coronary artery mor... ORPHA:860
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Abdominal situs inversus, Situs inv... OMIM:605376
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... OMIM:616749
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chylopericardium, Chronic pulmonary obstruction, Tricuspid regurgitation, P... ORPHA:2414
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Cardiomyopathy, Dilated, 2A
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... OMIM:611880
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Systolic heart murmur, Abnormal coronary artery morphology, P... ORPHA:980
Meacham Syndrome
Congenital alveolar dysplasia, Ventricular septal defect, Pulmonary hypoplasia, Cardiac total ano... OMIM:608978
Cardiac Lipidosis, Familial
Death in infancy, Cardiomyopathy, Congestive heart failure OMIM:212080
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Hydrops Fetalis
Miscarriage, Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Lymphedema, Pleural effusion,... ORPHA:1041
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... OMIM:607941
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy, Death in middle age, Increased left ventricular end-diastolic volume, Con... OMIM:613286
Primary Effusion Lymphoma
Dyspnea, Pericardial effusion, Pleural effusion ORPHA:48686
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Stroke, Muscular ventricular septal defect, Sudden cardiac death, Right bun... OMIM:115197
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... OMIM:231060
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Nephrosialidosis
Death in childhood, Ascites, Pericardial effusion, Bone-marrow foam cells OMIM:256150
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis, Stroke, Pleural effusion OMIM:602248
Ciliary Dyskinesia, Primary, 7
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Situs inversus totalis, Dextrocardia, Ciliary dy... OMIM:611884
Ermine Phenotype
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair OMIM:227010
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Spinal Muscular Atrophy, Type I
Atrial septal defect, Proximal muscle weakness in lower limbs, Respiratory insufficiency, Death i... OMIM:253300
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... OMIM:619947
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Ciliary Dyskinesia, Primary, 25
Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Situs inversus totalis, Dextrocard... OMIM:615482
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Heart murmur, Aorto-ventricular tunnel, Aortic root aneurysm... ORPHA:3400
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Cough, Abnormal cardiovascular system physiolog... ORPHA:50251
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Compensated hemolytic anemia, Heinz bodies OMIM:614164
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Situs i... OMIM:615067
Cardiac Diverticulum
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Umbilical hern... ORPHA:1686
Woolly Hair
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... ORPHA:170
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Left ventricular noncompaction, Cardiogenic shock, Dilated cardiomyopathy, ... OMIM:613642
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Reduced vital capacity, Abnormal Z disc morphology, Internally nucleated sk... OMIM:618654
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Impaired myocardial contractility, Dilated cardiomyopathy, Vascular dilat... OMIM:600884
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Pedal edema, Coronary artery aneurysm, Cardiomegaly, Abno... ORPHA:2041
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Abnormality of skin pigmentation OMIM:237450
Hypercholanemia, Familial, 2
Osteopenia, Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Cardiomyopathy, Dilated, 1L
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... OMIM:606685
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Systolic heart murmur, Tetralogy of Fallot, Ventricular ... OMIM:617478
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... OMIM:613172
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... OMIM:605362
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function OMIM:604765
Trimethylaminuria
Splenomegaly, Tachycardia, Neutropenia, Hypertension, Anemia OMIM:602079
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Congenital diaphragmatic hernia, Scimitar anomaly, ... OMIM:618280
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Ventricular septal defect, Pulmonary hypoplasia, Pneumonia... ORPHA:95430
Noonan Syndrome 8
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral regurgitation, Vent... OMIM:615355
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... ORPHA:1354
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Alopecia, Hypogonadotropic hypogonadism, Arrhythmia, H... OMIM:235200
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613252
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Ciliary Dyskinesia, Primary, 30
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... OMIM:616037
Hypotrichosis 8
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... OMIM:278150
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Right ventricular failure... ORPHA:199241
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
White Forelock With Malformations
Poliosis, White forelock OMIM:277740
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect, Lymphopenia, Neutropenia OMIM:614868
Acute Interstitial Pneumonia
Interlobular septal thickening, Subpleural honeycombing, Nodular pattern on pulmonary HRCT, Nonpr... ORPHA:79126
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Craniofaciofrontodigital Syndrome
Respiratory distress, Hypertrichosis, Stroke, Anomalous branches of internal carotid artery, Sacr... ORPHA:363705
Waardenburg Syndrome, Type 4B
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:613265
Dextrocardia
Congenital malformation of the great arteries, Abnormal lung lobation, Situs inversus totalis, De... ORPHA:1666
Myopathy, Myosin Storage, Autosomal Recessive
Death in early adulthood, Right bundle branch block, Scapuloperoneal amyotrophy, Muscle fiber hya... OMIM:255160
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Melanocytic nevus, Anemia, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Ciliary Dyskinesia, Primary, 38
Cough, Situs inversus totalis, Dextrocardia, Chronic sinusitis, Bronchiectasis, Neonatal respirat... OMIM:618063
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Lymphatic Malformation 7
Respiratory distress, Pulmonary edema, Facial edema, Atrial septal defect, Nonimmune hydrops feta... OMIM:617300
Loeffler Endocarditis
Right bundle branch block, Pericarditis, Myocardial fibrosis, Abnormal morphology of the chordae ... ORPHA:75566
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
Aortic Arch Interruption
Respiratory distress, Blood pressure substantially higher in arms than legs, Systolic heart murmu... ORPHA:2299
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in adolescence, Death in early adulthood, Cardiomyocyte hypertrophy, Dilated cardiomyopathy... OMIM:605676
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Immunodeficiency 19
Lymphopenia OMIM:615617
Wild Type Attr Amyloidosis
Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Abnormal pulmo... ORPHA:330001
Klippel-Trénaunay Syndrome
Atrial septal defect, Peripheral arteriovenous fistula, Respiratory insufficiency, Hydrops fetali... ORPHA:90308
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Pili canaliculi OMIM:617252
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... OMIM:615248
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Erythroid hyp... OMIM:237800
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Ciliary Dyskinesia, Primary, 17
Cough, Chronic rhinitis, Situs inversus totalis, Dextrocardia, Ciliary dyskinesia, Chronic sinusi... OMIM:614679
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure OMIM:611879
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular h... OMIM:614470
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal jugular vein morphology, Reduced left ventricular ejection fraction, Holosystolic murmur... ORPHA:1677
Familial Atrial Myxoma
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Heart murmur, Pedal ed... ORPHA:615
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... OMIM:608751
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:612877
Primary Pulmonary Hypoplasia
Apnea, Asthma, Secundum atrial septal defect, Tachypnea, Pneumothorax, Dextrocardia, Abnormal hem... ORPHA:2257
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Heterotaxy, Pulmonic stenosis, Tachycardia... ORPHA:3426
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Airway obstruction, Anomalous pulmonary venous return, Atrial arrhyt... ORPHA:99105
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613694
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Congenital Gerbode Defect
Elevated right atrial pressure, Systolic heart murmur, Ventricular septal defect, Pedal edema, Ho... ORPHA:99095
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal left ventricular function, Supraventricular tachycardia, Sudden cardiac death, Muscular ... ORPHA:300751
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Pedal edema, Reduced left ventricular ejection fraction, Respiratory f... ORPHA:563
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy, M... OMIM:618052
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Malaria
Anemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Ciliary Dyskinesia, Primary, 22
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... OMIM:615444
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Unilateral vertebral artery hypoplasia, Spina bifida occulta, Situs inversus to... OMIM:613686
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure OMIM:192600
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:607624
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... ORPHA:206546
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Mitral regurgitation, Pulmonary insufficiency, Heart murmur, Pulmo... ORPHA:2326
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Recurrent... OMIM:106700
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Overriding aorta, Hydrops fetalis, Ventricular septal defect, Lymphedema, P... OMIM:601927
Primary Ciliary Dyskinesia
Airway obstruction, Anomalous pulmonary venous return, Chronic sinusitis, Respiratory failure, Ab... ORPHA:244
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Nonimmune hydrops fetalis, Ventricular septal defect, Alveolar cap... OMIM:265380
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... OMIM:618316
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Hypocomplementemic Urticarial Vasculitis
Airway obstruction, Cough, Angioedema, Restrictive ventilatory defect, Emphysema, Pleural effusio... ORPHA:36412
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic st... OMIM:601186
Abcd Syndrome
Polycythemia, Neonatal death, Albinism, White eyebrow, White eyelashes, Abnormal auditory evoked ... OMIM:600501
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... OMIM:613251
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... ORPHA:1345
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Situs inversus totalis, Dextrocardia, Ciliary dyskinesia, Bronch... OMIM:606763
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... OMIM:607685
Desminopathy
Supraventricular arrhythmia, Respiratory insufficiency due to muscle weakness, Concentric hypertr... ORPHA:98909
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Cough, Situs inversus totalis, Dextrocardia, Abdominal situs inversus, Chronic sinusitis, Decreas... OMIM:619607
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... OMIM:618845
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... OMIM:615897
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Tricuspid ... ORPHA:555874
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Hearing impairment, Unconjugated hyperbilirubinemia ORPHA:79234
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Persistent... OMIM:614954
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Johnson Neuroectodermal Syndrome
Sparse hair, Absent eyebrow, Alopecia, Hypogonadotropic hypogonadism, Facial palsy, Ventricular s... OMIM:147770
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Systemic Capillary Leak Syndrome
Pulmonary edema, Arrhythmia, Myocarditis, Cough, Hypotension, Pedal edema, Rhinorrhea, Pleural ef... ORPHA:188
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Supracardiac total anomalous pulmonary venous connection, Apneic episodes i... ORPHA:99125
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair OMIM:616760
Waardenburg Syndrome, Type 2A
Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry... OMIM:193510
Capillary Malformation-Arteriovenous Malformation
Arteriovenous malformation, High-output congestive heart failure, Peripheral arteriovenous fistul... ORPHA:137667
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Secundum atrial septal defect, Cerebral hemorrhage, Respirat... OMIM:617397
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Amoebiasis Due To Entamoeba Histolytica
Abnormal pericardium morphology, Pleural empyema, Constrictive pericarditis, Cough, Pleural effus... ORPHA:67
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Frontal hirsutism OMIM:129850
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Familial Dilated Cardiomyopathy
Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva... ORPHA:217607
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Increased muscle glycogen content, Right axis deviation, Macroglo... OMIM:232300
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613697
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Noonan Syndrome 10
Mitral stenosis, Atrial septal defect, Sparse eyebrow, Pulmonic stenosis, Left ventricular hypert... OMIM:616564
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased serum bile acid concentration, Splen... OMIM:620010
Atrial Septal Defect, Ostium Primum Type
Airway obstruction, Systolic heart murmur, Left atrial enlargement, Right bundle branch block, At... ORPHA:99106
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:179700
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Respiratory insufficiency, Bilateral lung agenesis, Neonatal ... OMIM:601612
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Myopathy, Congestive heart failure OMIM:618234
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Whim Syndrome 2
Chronic neutropenia, Tetralogy of Fallot OMIM:619407
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Death in... OMIM:613759
Pericardial Effusion, Chronic
Retinal arteriolar tortuosity, Pericardial effusion, Constrictive pericarditis OMIM:260900
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Poland Syndrome
Hypoplasia of latissimus dorsi muscle, Unilateral absence of pectoralis major muscle, Absence of ... OMIM:173800
Pulmonary Arteriovenous Malformation
Bacterial endocarditis, Telangiectasia, Hemothorax, Pleural empyema, Pulmonary hemorrhage, Palpit... ORPHA:2038
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... OMIM:613673
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... OMIM:270100
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... OMIM:614980
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:616198
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Stroke, Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac a... ORPHA:49827
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... OMIM:613426
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Hypertrophic cardiomyopathy, Hydrops fetalis, Ventricular septal defect, Pol... OMIM:616897
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Scedosporiosis
Sinusitis, Pleural empyema, Endocarditis, Cough, Pleuritis, Bronchitis, Pneumonia, Abnormal respi... ORPHA:449280
Malignant Atrophic Papulosis
Telangiectasia of the skin, Abnormal pericardium morphology, Myocardial infarction, Abnormal myoc... ORPHA:679
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Atrioventricular canal defect, Ventricular septal defect, Cardiomegaly, Dou... OMIM:306955
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Absence of lymph node germ... OMIM:619924
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... ORPHA:895
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Systolic heart murmur, Elevated pulmonary artery pressure, Right b... ORPHA:1329
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Atrial septal defect, Cerebral atrophy, Joint contracture of the h... OMIM:179613
Infantile Sialic Acid Storage Disease
Fair hair, Vacuolated lymphocytes, Splenomegaly, Hypopigmentation of the skin, Osteopenia, Conjug... OMIM:269920
Ethanolaminosis
Cardiomegaly OMIM:227150
Ciliary Dyskinesia, Primary, 14
Bronchiectasis, Chronic bronchitis, Heterotaxy, Wheezing, Cough, Situs inversus totalis, Ciliary ... OMIM:613807
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Tricuspid regurgi... ORPHA:1120
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea, Left ventricular hypertrophy, Ventricular hypertrophy, Congestive heart failure, Bradycardia OMIM:619048
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... OMIM:540000
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Facial pa... OMIM:612387
Harderoporphyria
Increased circulating ferritin concentration, Splenomegaly, Hemolytic anemia, Hyperpigmentation o... OMIM:618892
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Central sleep apnea, Hypopigmentation of hair, Muscle weakness, Stroke-like episode, Hypertrophic... ORPHA:70472
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Respirator... ORPHA:1880
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Restrictive cardi... ORPHA:85451
Indomethacin Embryofetopathy
Atrial septal defect, Respiratory insufficiency, Hydrops fetalis, Ventricular septal defect, Olig... ORPHA:1909
Poems Syndrome
Hypertrichosis, Leukonychia, Pulmonary arterial hypertension, Erectile dysfunction, Hyperpigmenta... ORPHA:2905
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... OMIM:616689
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... ORPHA:36238
Oculocutaneous Albinism Type 3
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:79433
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Facial hypotonia, Polyhydramnios, Atrial septal defect, Astrocytosis OMIM:611087
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Sandhoff Disease
Cherry red spot of the macula, Muscle weakness, Recurrent respiratory infections, Congestive hear... ORPHA:796
Cholestasis, Progressive Familial Intrahepatic, 11
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration OMIM:619874
Pericardial And Diaphragmatic Defect
Mitral stenosis, Pulmonary sequestration, Bicuspid aortic valve, Atrial septal defect, Congenital... ORPHA:2847
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death, Congestive heart failure OMIM:301021
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia OMIM:221950
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus ar... OMIM:249670
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Muscle fiber atrophy, Secundum atrial septal defect, Flexion contracture, Diaphragmatic eventrati... OMIM:616866
Catel-Manzke Syndrome
Coarctation of aorta, Camptodactyly, Ventricular septal defect, Dextrocardia, Umbilical hernia, O... OMIM:616145
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Episodic hemolytic anemia, Hyperbilirubinemia, Schi... OMIM:601775
Lymphatic Malformation 6
Facial edema, Chylothorax, Genital edema, Atrial septal defect, Nonimmune hydrops fetalis, Polyhy... OMIM:616843
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... OMIM:203200
Congenital Enterovirus Infection
Respiratory distress, Hydrops fetalis, Myocarditis, Hypotension, Polyhydramnios, Cardiomyopathy, ... ORPHA:292
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles OMIM:601706
Systemic-Onset Juvenile Idiopathic Arthritis
Joint swelling, Pericarditis, Pleural effusion ORPHA:85414
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Camptodactyly of finger, Patent ductus arteriosus ORPHA:2863
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Airway obstruction, Stroke, Systol... ORPHA:99103
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Right ventricular outle... ORPHA:99094
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Congenital, generalized hypertri... OMIM:239850
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Cirrhotic Cardiomyopathy
Fourth heart sound, Right atrial enlargement, Pulmonary edema, Left ventricular hypertrophy, Left... ORPHA:57777
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Alopecia totalis, Hyperventilation, Bradycardia, Muscle weakness, Pers... OMIM:618775
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Atrial septal defect, Tachycardia, Arrhythmia, Exercise... ORPHA:26793
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Muscle weakness, External ophthalmoplegia, Hypertension, Hypertrophic cardiomyopathy,... ORPHA:225
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:256710
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... ORPHA:2885
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Anemia of inadequate production, Increased mean cor... ORPHA:3202
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Thoraco-Abdominal Enteric Duplication
Respiratory insufficiency, Camptodactyly of finger, Dextrocardia, Meningocele, Abnormal tricuspid... ORPHA:1759
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Immunodeficiency 14A, Autosomal Dominant
Cellulitis, Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cell... OMIM:615513
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Woolly Hair, Autosomal Dominant
Woolly hair, Coarse hair, Dry hair, Slow-growing hair, Abnormal hair morphology OMIM:194300
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Arrhythmia, Dilated cardiomyopathy, Hyper... OMIM:602390
Aspergillosis
Asthma, Sinusitis, Stroke, Chronic pulmonary obstruction, Hypersensitivity pneumonitis, Intracran... ORPHA:1163
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... OMIM:220210
Cholestasis, Progressive Familial Intrahepatic, 10
Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercho... OMIM:619868
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Classic Multiminicore Myopathy
Multiple joint contractures, Poor head control, Muscle fiber atrophy, Right ventricular hypertrop... ORPHA:324604
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Neonatal death, Camptodactyly, Pulmonary arterial hyp... OMIM:619751
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... OMIM:245480
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Pericardial effusion, Edema, Cerebellar atrophy, Ascites, Glo... OMIM:608776
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair ORPHA:2786
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Transaldolase Deficiency
Atrial septal defect, Hydrops fetalis, Coarctation of aorta, Biventricular hypertrophy, Edema, Ab... ORPHA:101028
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Hypertrophic cardiomyopathy, Congestive h... OMIM:617222
Polymyositis
Abnormal mitral valve morphology, Abnormal muscle fiber morphology, Respiratory insufficiency, Ar... ORPHA:732
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger ORPHA:1937
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia OMIM:615297
Immunodeficiency 91 And Hyperinflammation
Pulmonary hemorrhage, Death in childhood, Abnormal pulmonary interstitial morphology, Recurrent l... OMIM:619644
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Knee flexion contracture, ... OMIM:603387
Pediatric Systemic Lupus Erythematosus
Raynaud phenomenon, Alopecia, Myositis, Muscle weakness, Pleural effusion, Edema, Dyspnea, Ascite... ORPHA:93552
Albinism-Deafness Syndrome
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Avian Influenza
Respiratory distress, Miscarriage, Nonproductive cough, Tachypnea, Cough, Pneumothorax, Rhabdomyo... ORPHA:454836
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Reduced left ventricular ejection fraction, Respiratory failure, Flexion contracture, Arrhythmia,... ORPHA:258
Immune-Mediated Necrotizing Myopathy
Muscle fiber necrosis, Raynaud phenomenon, Proximal muscle weakness in lower limbs, EMG: myopathi... ORPHA:206569
Polycythemia Vera
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... OMIM:263300
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure ORPHA:53296
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... OMIM:617047
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, T lymphocytopenia DECIPHER:16
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Thick eyebrow, Pericardial effusion, Widow's peak OMIM:614684
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Pate... ORPHA:3304
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Hyperbilirubinemia OMIM:609734
Naxos Disease
Sparse scalp hair, Abnormality of hair texture, Woolly hair, Sudden cardiac death, Paroxysmal ven... ORPHA:34217
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricula... DECIPHER:39
Idiopathic Pulmonary Arterial Hypertension
Edema of the dorsum of feet, Tricuspid regurgitation, Right ventricular hypertrophy, Palpitations... ORPHA:275766
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Spl... OMIM:616860
Q Fever
Respiratory distress, Abnormal left ventricular function, Endocarditis, Abnormal pulmonary inters... ORPHA:781
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Joint contracture of the hand, Thyroid lymphangiectasia, Pleural lymphangie... OMIM:235510
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Combined Oxidative Phosphorylation Deficiency 28
Polyhydramnios, Ragged-red muscle fibers, Muscle weakness, Respiratory failure, Congestive heart ... OMIM:616794
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Flexion contracture, Hypertrophic cardiomyopathy, Camptodact... ORPHA:1194
Congenital Muscular Dystrophy Due To Lmna Mutation
Poor head control, Flexion contracture, Respiratory insufficiency, Arrhythmia, Axial muscle weakn... ORPHA:157973
Sporadic Creutzfeldt-Jakob Disease
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Astrocytosis, Respiratory fai... ORPHA:204
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Bronchitis, Patent ductus arteriosus, Patent fora... OMIM:601005
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Muscular Dystrophy, Duchenne Type
Hamstring contractures, Gowers sign, Congestive heart failure, Achilles tendon contracture, Flexi... OMIM:310200
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Granulomatous coronary arteritis, Vascular dilatation, Pleural effusion, Hypertension, Pericardia... OMIM:108050
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture OMIM:122850
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Abnormal lymphatic vessel morphology, Cough, Abnormal lung morphology, Pleur... ORPHA:464329
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Predominantly lower limb lymphedema, Absent eyebrow, Alopecia, Sparse body hai... ORPHA:69735
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure OMIM:614672
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Foot dorsiflexor weak... ORPHA:477817
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Stroke, Arrhythmia, Ventricular septal defect, Situs inversus totalis, Card... OMIM:249270
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Mulibrey Nanism
Myocardial fibrosis, Congestive heart failure, Hydrops fetalis, Recurrent lower respiratory tract... OMIM:253250
Arterial Calcification, Generalized, Of Infancy, 1
Carotid artery calcification, Renal artery stenosis, Coronary artery calcification, Generalized a... OMIM:208000
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Pulmonary edema, Macroglossia, Hypotension, Shortened PR interval, Bive... OMIM:261740
Myopathy, Congenital, Nonprogressive
Atrial septal defect, Weakness of facial musculature, Apneic episodes in infancy, Polyhydramnios,... OMIM:619967
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... ORPHA:3097
Congenital Left Ventricular Aneurysm
Apnea, Abnormal T-wave, Abnormal ST segment, Arrhythmia, Abnormal left ventricle morphology, Cong... ORPHA:1055
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia OMIM:301083
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Myofiber disarra... OMIM:600858
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Sudden card... OMIM:608758
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Pulmonary arterial hypertension, Atrial septal defect, Tetralogy of Fallot OMIM:300887
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure ORPHA:91130
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Morbid Obesity And Spermatogenic Failure
Infertility, Premature coronary artery atherosclerosis, Azoospermia, Oligospermia, Myocardial inf... OMIM:615703
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Lymphocytosis ORPHA:79087
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Anisocytosis, Schistocytosis, ... OMIM:224120
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Short chordae tendineae of ... OMIM:314400
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Progressive external ophthalmoplegia, Ophthalmoparesis, Ragged-red muscle fibers, Dilated cardiom... ORPHA:1349
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Piebald Trait
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... OMIM:172800
Velocardiofacial Syndrome
Unilateral primary pulmonary dysgenesis, Double aortic arch, Tetralogy of Fallot, Pulmonary arter... OMIM:192430
Hadziselimovic Syndrome
Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, V... OMIM:612946
Primary Intestinal Lymphangiectasia
Abnormal lymphatic vessel morphology, Intestinal lymphangiectasia, Pleural effusion, Edema, Gener... ORPHA:90362
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy OMIM:614947
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Brain atrophy, Weakness of muscles of respiration, Distal muscle w... ORPHA:52430
Butyrylcholinesterase Deficiency
Myocardial infarction, Respiratory failure, Congestive heart failure, Respiratory failure requiri... ORPHA:132
Hemochromatosis, Type 2B
Secondary amenorrhea, Hyperpigmentation of the skin, Hypogonadism, Cardiomyopathy, Congestive hea... OMIM:613313
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Myopathy, Increased variability in muscle fiber diameter, Respiratory ... OMIM:616816
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Recurrent sinusitis, Situs inversus totalis, Neonatal respiratory distress, Bronchiectasis... OMIM:300991
Pseudoxanthoma Elasticum
Angina pectoris, Mitral stenosis, Intermittent claudication, Stroke, Restrictive cardiomyopathy, ... OMIM:264800
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... ORPHA:75565
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Spherocytosis, Type 2
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Waardenburg Syndrome, Type 4A
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:277580
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Ciliary Dyskinesia, Primary, 23
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Chronic rhiniti... OMIM:615451
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Situs inversus totalis, Pu... OMIM:615415
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Inherited Creutzfeldt-Jakob Disease
Senile plaques, Neuronal loss in central nervous system, Astrocytosis, Global brain atrophy, Musc... ORPHA:282166
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Tachycardia, Arrhythmia, Hypotension, Tachypnea, Reduced left ventricular ejecti... ORPHA:542323
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect, Polyhydramnios, Facial hypotonia, Decreased muscle mass, Congestive heart f... ORPHA:500533
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Asthma, Atrial septal defect, Pulmonic stenosis, Camptodactyly, Ventricular septal defect, Arthro... OMIM:614262
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Dilated cardiomyopathy, Facial myokymia, Congestive heart failure ORPHA:324588
Meige Disease
Predominantly lower limb lymphedema, Facial edema, Edema of the dorsum of hands, Laryngeal edema,... ORPHA:90186
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Respiratory insufficiency, Arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Hyper... OMIM:617021
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Thymic Aplasia With Fetal Death
Stillbirth, Pulmonary hypoplasia, Truncus arteriosus OMIM:274210
Follicular Lymphoma
Lymphedema, Pleural effusion ORPHA:545
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... ORPHA:98870
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Fulminant hepatitis, Ap... OMIM:308240
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... OMIM:109270
Ciliary Dyskinesia, Primary, 3
Recurrent sinusitis, Situs inversus totalis, Ciliary dyskinesia, Bronchiectasis, Neonatal respira... OMIM:608644
Erdheim-Chester Disease
Joint swelling, Abnormal pericardium morphology, Abnormal aortic valve morphology, Abnormal pulmo... ORPHA:35687
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Pol... OMIM:616867
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Supernumerary nipple, Tricuspid regurgitation, Atrioventricular canal defect, Coarctation of aort... OMIM:618929
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Drug-Induced Lupus Erythematosus
Dyspnea, Pericarditis, Pericardial effusion, Prolonged QTc interval ORPHA:231111
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Naxos Disease
Sparse eyebrow, Sudden cardiac death, Right bundle branch block, Curly hair, Cardiomegaly, Abnorm... OMIM:601214
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Sensorineural hearing impairment, Congenital sensorineural hearing impairment, Low anterior hairl... ORPHA:73272
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory insufficiency, Neonatal death, Ventricular septal defect, Respiratory failure, Truncu... OMIM:228940
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Pontocerebellar Hypoplasia, Type 13
Asthma, Sleep apnea, Long eyelashes, Pleural effusion, Edema, Low posterior hairline, Recurrent r... OMIM:618606
Familial Ao