Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal pancreas morphology Mgrn1em1(IMPC)Tcp HOM Early adult 0.00
abnormal skin morphology Mgrn1em1(IMPC)Tcp HOM Early adult 0.00
decreased circulating HDL cholesterol level Mgrn1em1(IMPC)Tcp HOM Early adult 4.35×10-05
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 7.62×10-13
abnormal auditory brainstem response Mgrn1em1(IMPC)Tcp HOM   Early adult 1.80×10-08
shortened QRS complex duration Mgrn1em1(IMPC)Tcp HET Early adult 1.06×10-06
abnormal coat/hair pigmentation Mgrn1em1(IMPC)Tcp HOM Early adult 2.56×10-09
increased circulating bilirubin level Mgrn1em1(IMPC)Tcp HOM Early adult 2.35×10-08
increased mean corpuscular hemoglobin Mgrn1em1(IMPC)Tcp HOM Early adult 1.64×10-07
preweaning lethality, incomplete penetrance Mgrn1em1(IMPC)Tcp HOM   Early adult 0.00
abnormal ear morphology Mgrn1em1(IMPC)Tcp HOM Early adult 1.02×10-11
enlarged urinary bladder Mgrn1em1(IMPC)Tcp HET Early adult 0.00
abnormal uterus morphology Mgrn1em1(IMPC)Tcp HET Early adult 0.00
abnormal bone structure Mgrn1em1(IMPC)Tcp HOM Early adult 3.53×10-06
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 skin coloration Mgrn1em1(IMPC)Tcp HOM Early adult 7.32×10-05
abnormal sternum morphology Mgrn1em1(IMPC)Tcp HOM Early adult 0.00
decreased lymphocyte cell number Mgrn1em1(IMPC)Tcp HET Early adult 3.17×10-08
increased spleen weight Mgrn1em1(IMPC)Tcp HET Early adult 1.45×10-22
increased heart weight Mgrn1em1(IMPC)Tcp HET   Early adult 7.60×10-05
decreased bone mineral content Mgrn1em1(IMPC)Tcp HOM Early adult 1.47×10-08
decreased total body fat amount Mgrn1em1(IMPC)Tcp HET Early adult 9.26×10-05
abnormal cranium morphology Mgrn1em1(IMPC)Tcp HOM Early adult 7.53×10-05

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Slit Lamp

19 Images

X-ray

XRay Images Whole Body Dorso Ventral

16 Images

Eye Morphology

Images Ophthalmoscopy

145 Images

Combined SHIRPA and Dysmorphology

Images

4 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

Histopathology

Images

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

Gross Pathology and Tissue Collection

Images

14 Images

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
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair 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
Albinism, Red hair, Partial albinism OMIM:203290
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... OMIM:606217
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... ORPHA:216694
Congenital Heart Block
Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval, Gallop rhythm, Pa... ORPHA:60041
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Scimitar Syndrome
Bronchogenic cyst, Pulmonary sequestration, Left-to-right shunt, Hypoplasia of the diaphragm, Abn... ORPHA:185
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Dextrocardia, Double outlet right ventricle, Recurrent lower respiratory tract in... OMIM:618254
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Left ventricular outflow tract ... OMIM:613854
Cardiomyopathy, Dilated, 1M
Congestive heart failure, Reduced left ventricular ejection fraction, Impaired myocardial contrac... OMIM:607482
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Atrioventricular canal defect, Patent ductus arteriosus, Right aortic arc... OMIM:618300
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Partial Atrioventricular Septal Defect
Coronary sinus enlargement, Aortic valve stenosis, Heart murmur, Bicuspid aortic valve, Abnormal ... ORPHA:1330
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Abnormal descending aorta morphology, Aortopulmonary window, Lef... ORPHA:99050
Heterotaxy, Visceral, 8, Autosomal
Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul... OMIM:617205
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Death in middle age, Severely reduced left ventricular ejection fractio... OMIM:613286
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Death in childhood, Reduced left ventricular ejection fraction, Hypertr... OMIM:614096
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Left Isomerism, ... OMIM:619702
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Cardiomyopathy, Dilated, 2A
Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, Increased left ventricula... OMIM:611880
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... OMIM:613424
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy, Death in infancy OMIM:212080
Hydrops Fetalis
Polyhydramnios, Capillary leak, Miscarriage, Lymphedema, Pleural effusion, Ascites, Generalized e... ORPHA:1041
Meacham Syndrome
Death in infancy, Bicuspid aortic valve, Congenital alveolar dysplasia, Transposition of the grea... OMIM:608978
Cardiomyopathy, Familial Hypertrophic, 15
Congestive heart failure, Endocardial fibrosis, Hyperdynamic left ventricular ejection fraction, ... OMIM:613255
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormality of blood circulation, Abnormal aortic arch morphology, Abnormal... ORPHA:860
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal h... OMIM:115197
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Aortic regurgitation, Pulmonic stenosis, Patent duct... OMIM:607941
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Pulmonary... ORPHA:2414
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc... 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
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia... OMIM:208530
Lymphatic Malformation 8
Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... OMIM:618773
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Absence Of The Pulmonary Artery
Abnormal inferior vena cava morphology, Abnormal heart morphology, Cardiomegaly, Abnormal cardiac... ORPHA:980
Genitopalatocardiac Syndrome
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula... OMIM:231060
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Ciliary Dyskinesia, Primary, 37
Bronchiectasis, Situs inversus totalis, Right aortic arch, Dextrocardia OMIM:617577
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Pleural effusion, Constrictive pericarditis, Stroke OMIM:602248
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Aorto-Ventricular Tunnel
Congestive heart failure, Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hype... ORPHA:3400
Cardiomyopathy, Dilated, 1L
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:606685
Left Ventricular Noncompaction 1
Congestive heart failure, Patent ductus arteriosus, Palpitations, Atrial fibrillation, Noncompact... OMIM:604169
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor... OMIM:620642
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial se... OMIM:617912
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Cardiac Diverticulum
Abnormal coronary artery origin, Premature ventricular contraction, Aortic valve stenosis, Abnorm... ORPHA:1686
Cardiomyopathy, Dilated, 1I
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:604765
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Aortic aneu... OMIM:614980
Cardiomyopathy, Dilated, 1Ee
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:613252
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Vascular dilatation, Ventricular arrhythmia, Impaired myocardial contra... OMIM:600884
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Mesocardia, Patent urachus, Dextrocardia, Patent ductus arterios... OMIM:618280
Dextrocardia
Abnormal lung lobation, Situs inversus totalis, Dextrocardia, Abnormality of abdominal situs, Abn... ORPHA:1666
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Cardiomyopathy, Dilated, 1J
Congestive heart failure, Dilated cardiomyopathy, Abnormal left ventricular function, Sudden card... OMIM:605362
Cardiomyopathy, Dilated, 1Dd
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death, Left ventricular systolic... OMIM:613172
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardio... OMIM:614702
Spinal Muscular Atrophy, Type I
Death in childhood, Recurrent respiratory infections, Spinal muscular atrophy, Proximal amyotroph... OMIM:253300
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Death in infan... OMIM:617478
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Congestive heart failure, Weak extraocular muscles, ... OMIM:618654
Fixed Subaortic Stenosis
Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiomegaly, Left ventricu... ORPHA:3092
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog... OMIM:620294
Lymphatic Malformation 7
Pulmonary edema, Atrial septal defect, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increa... OMIM:617300
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Congestive heart failure, Ankle flexion contracture, Gowers sign, Calf muscle hypertrophy, Cardio... OMIM:608099
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613881
Sensorineural Deafness With Dilated Cardiomyopathy
Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy ORPHA:217622
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis,... OMIM:615779
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Noonan Syndrome 8
Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Hypertrophic cardiomyopathy, Pulmonic... OMIM:615355
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aortic valve, Right vent... ORPHA:2041
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Pleural Mesothelioma
Abnormal cardiovascular system physiology, Pleural effusion, Obstruction of the superior vena cav... ORPHA:50251
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Hemochromatosis, Type 1
Congestive heart failure, Hyperpigmentation of the skin, Azoospermia, Alopecia, Cardiomyopathy, P... OMIM:235200
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Death in infancy, Abnormal mitral valve morphology, Abnormal... ORPHA:1354
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Trimethylaminuria
Trimethylaminuria, Anemia, Hypertension, Splenomegaly, Tachycardia, Neutropenia OMIM:602079
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at... OMIM:613694
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Wild Type Attr Amyloidosis
Pulmonary edema, Abnormal pulmonary interstitial morphology, Congestive heart failure, Myocardial... ORPHA:330001
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Isomerism, Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, Ven... OMIM:619657
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Right aortic arch with mirror image branching, Bilateral lung ag... OMIM:601186
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... OMIM:237800
Cardiomyopathy, Dilated, 1Kk
Congestive heart failure, Ventricular septal hypertrophy, Atrial fibrillation, Hypertrophic cardi... OMIM:615248
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Isomerism, Transposition of the great arteries, Atrioventricular canal defect, Polyhydramnios, De... OMIM:314390
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Dilatation of the cerebral artery, Aortic valve stenosis, Lower eyel... ORPHA:363705
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Hypercholanemia, Familial, 2
Osteopenia, Prolonged neonatal jaundice, Increased serum bile acid concentration, Unconjugated hy... OMIM:619256
Familial Atrial Myxoma
Congestive heart failure, Dilatation of the cerebral artery, Vascular dilatation, Bacterial endoc... ORPHA:615
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Calf muscle hypertrophy, Sinus tachycardia, Limb-girdle muscle weakness, Centrally nucleated skel... OMIM:255160
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Recurrent lower respiratory tract in... OMIM:620570
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Hydrops fetalis, Abnormal tricuspid valve ... ORPHA:90308
Glycogen Storage Disease Of Heart, Lethal Congenital
Bradycardia, Cardiomyopathy, Ascites, Prolonged QRS complex, Cardiomegaly, T-wave inversion, Anas... OMIM:261740
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Atelectasis, Pulmonary situs ambiguu... ORPHA:244
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Increased total... OMIM:619868
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Death in middle age, Left ventricular outflow tract obstruction, Right ... OMIM:613251
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation, Jaundice, Conjugated hyperbilirubinemia OMIM:237450
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Muscular dystrophy, Atrial flutter, Heart block, Atrial fibrillation, S... ORPHA:300751
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Hearing impairment, Biliary tract abnormality, Prolonged neonata... ORPHA:79234
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Dextrocardia, Bronchiectasis, Recurrent respiratory infections, Ventricul... OMIM:616037
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular... OMIM:608751
Familial Isolated Dilated Cardiomyopathy
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Edema, Dilated cardi... ORPHA:154
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasis, R... OMIM:615482
Cardiomyopathy, Dilated, 1Bb
Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr... OMIM:612877
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrops fetalis, Atrial flutter, Lymphedema, Vascular ring, Patent ductus arteriosus, Overriding ... OMIM:601927
Congenital Gerbode Defect
Elevated right atrial pressure, Left-to-right shunt, Pulmonic stenosis, Constrictive pericarditis... ORPHA:99095
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Generalized muscle weakness, Calf muscle hypertrophy, Elbow flexion con... ORPHA:206546
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Recurrent respiratory infections, Total anomalous pulmonary venous return, Pulmonar... OMIM:106700
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary insufficiency, Congestive heart failure, Aortic regurgitation, Anomalous origin of left... ORPHA:2326
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Cardiomegaly, Reduced left ventricular ejection fraction, Abnorma... ORPHA:1677
Double Outlet Right Ventricle
Heterotaxy, Tachycardia, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarcta... ORPHA:3426
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Death in childhood, Hypertrophic cardiomyopathy, Death in infancy OMIM:615440
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Aortopulmonary window, Hypertension, Abnor... ORPHA:2299
Loeffler Endocarditis
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa... ORPHA:75566
Ciliary Dyskinesia, Primary, 17
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Dextrocardia OMIM:614679
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Right ventricular dilatation, Supraventricular arrhythmia, Pulmonary arteria... ORPHA:99105
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Ciliary Dyskinesia, Primary, 7
Bronchiectasis, Situs inversus totalis, Recurrent pneumonia, Dextrocardia OMIM:611884
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Double inlet left ventricle, Dextrocardia, Atrial reentry tachycar... OMIM:270100
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pulmonary edema, Pulmonary capillary hemangiomatosis, Hemotho... ORPHA:199241
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Death in infancy, Patent duct... OMIM:618845
Aorta Coarctation
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aor... ORPHA:1457
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Vacuolated lymphocytes, Hypopigmentation of the skin, Splenomegaly, Con... OMIM:269920
Acute Interstitial Pneumonia
Peripheral edema, Atelectasis, Hypertension, Pleural effusion, Bronchiectasis, Pericardial effusi... ORPHA:79126
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Pulmonary Non-Tuberculous Mycobacterial Infection
Bronchiectasis, Pericardial effusion, Pleural effusion, Pneumothorax ORPHA:411703
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Woolly Hair, Autosomal Recessive 3
Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair OMIM:616760
Endocardial Fibroelastosis
Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis ORPHA:2022
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Premature graying of hair, Moyamoya phenomenon, Abnormal left ventricle morphology, Premature cor... OMIM:300845
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase... OMIM:618660
Desminopathy
Congestive heart failure, Distal lower limb muscle weakness, Fatigable weakness of respiratory mu... ORPHA:98909
Capillary Malformation-Arteriovenous Malformation
Congestive heart failure, Abnormality of the musculature of the limbs, Arteriovenous malformation... ORPHA:137667
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Nonimmune hydrops fetalis, Dysplastic tricuspid valve, Bicuspid aortic valve, Alveolar capillary ... OMIM:265380
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Congenital Myopathy 5 With Cardiomyopathy
Minicore myopathy, Congestive heart failure, Weakness of facial musculature, Calf muscle hypertro... OMIM:611705
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Persistent left superior vena cava, ... OMIM:614954
Congenital Tracheomalacia
Pneumothorax, Emphysema, Cardiomegaly, Single ventricle, Patent ductus arteriosus, Right aortic a... ORPHA:95430
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Limb hypertonia, Aortic aneurysm, Brain atrophy, Multiple muscular ventricular se... OMIM:620070
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Atelectasis, Dextrocardia, Pulmonary arterial hypertension, Persistent le... OMIM:615067
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec... ORPHA:439
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilateral superior ven... OMIM:306955
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Abnormal heart valve morphology, Hypertension, Hypertrophic cardiomyopa... ORPHA:1345
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Pseudo-Torch Syndrome 2
Bradycardia, Pleural effusion, Ascites, Secundum atrial septal defect, Cerebral hemorrhage, Paten... OMIM:617397
Ciliary Dyskinesia, Primary, 38
Bronchiectasis, Situs inversus totalis, Dextrocardia OMIM:618063
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi, Brittle hair OMIM:617252
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Nail dystrophy, Ventricular bigeminy, Myofiber disarray, Bicuspid aortic valve, Patent foramen ov... OMIM:620519
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Pulmonar... OMIM:616897
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Emphysema, Abnormal heart valve morphology, Pleural effusion, Ascites, A... ORPHA:36412
Malaria
Hyperbilirubinemia, Thrombocytopenia, Anemia, Elevated circulating C-reactive protein concentration ORPHA:673
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Erlenmeyer flask deformity of t... OMIM:610539
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Noonan Syndrome 10
Patent ductus arteriosus, Hyperpigmentation of the skin, Pleural effusion, Hypertrophic cardiomyo... OMIM:616564
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Edinburgh Malformation Syndrome
Frontal hirsutism, Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Primary Pulmonary Hypoplasia
Pneumothorax, Abnormal hemidiaphragm morphology, Dextrocardia, Secundum atrial septal defect, Pul... ORPHA:2257
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple... OMIM:607685
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi... ORPHA:45453
Peripartum Cardiomyopathy
Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro... ORPHA:563
Cardiomyopathy, Dilated, 2J
Congestive heart failure, Dilated cardiomyopathy, Secundum atrial septal defect, Severely reduced... OMIM:620635
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... 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, Stroke, Cardiac arrest, Paroxysmal atrial tachycardia, Atrial septal de... ORPHA:49827
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
Systemic Capillary Leak Syndrome
Myocarditis, Pulmonary edema, Pleural effusion, Hypotension, Pericarditis, Arrhythmia, Pedal edema ORPHA:188
Cirrhotic Cardiomyopathy
Left atrial enlargement, Pulmonary edema, Elevated pulmonary artery pressure, Fourth heart sound,... ORPHA:57777
Recombinant Chromosome 8 Syndrome
Cerebral atrophy, Low posterior hairline, Camptodactyly, Pulmonic stenosis, Tetralogy of Fallot, ... OMIM:179613
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Poland Syndrome
Unilateral hypoplasia of pectoralis major muscle, Hypoplasia of deltoid muscle, Hypoplasia of lat... OMIM:173800
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmia OMIM:616198
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Congestive heart failure, Pleural empyema, Pleural effusion, Abnormal pericardium m... ORPHA:67
Glycogen Storage Disease Ii
Increased muscle glycogen content, Wolff-Parkinson-White syndrome, Right axis deviation, Firm mus... OMIM:232300
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Congestive heart failure, Patent ductus arteriosus, Patent foramen ovale, Cardiomyopathy, Spinal ... OMIM:616866
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Pulmonary artery atresia, Left superior vena cava draining directly to... OMIM:613759
Harderoporphyria
Hepatomegaly, Hyperpigmentation of the skin, Reticulocytosis, Prolonged neonatal jaundice, Spleno... OMIM:618892
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Sandhoff Disease
Congestive heart failure, Recurrent respiratory infections, Cherry red spot of the macula, Muscle... ORPHA:796
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Tric... ORPHA:555874
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Hepatomegaly, Reduced haptoglobin level, Hyperbilirubinemia, Anemia o... OMIM:613673
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Decreased skull ossification, Thrombocytopenia, Abnormal hemoglobin, Melanocytic nevus ORPHA:3319
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Long eyelashes, Sparse hair, Neonatal hype... ORPHA:3363
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory ... OMIM:615444
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Coarctation of aorta, Neonatal death, Patent ductus arteriosus, Abnormal... OMIM:601612
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Hypertension,... OMIM:540000
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Parachute mitral valve, Highly arched eyebrow, Patent foramen ovale, Pulmon... OMIM:618316
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr... OMIM:620247
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125
Focal Segmental Glomerulosclerosis 1
Edema, Hypertension, Pleural effusion, Ascites OMIM:603278
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock OMIM:601706
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect, Astrocytosis, Polyhydramnios, Facial hypotonia OMIM:611087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Lymphatic Malformation 6
Atrial septal defect, Polyhydramnios, Intestinal lymphangiectasia, Genital edema, Chylothorax, Ly... OMIM:616843
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Pulmonary Arteriovenous Malformation
Ischemic stroke, Myocardial infarction, Bacterial endocarditis, Pleural empyema, Transient ischem... ORPHA:2038
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Rotor Syndrome
Hyperbilirubinemia, Jaundice, Intermittent jaundice, Conjugated hyperbilirubinemia ORPHA:3111
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Increased serum bile acid concen... OMIM:616278
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Coronary artery calcification, Reduced left ventricular ejection fracti... OMIM:614473
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... ORPHA:2885
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat... ORPHA:79414
Ciliary Dyskinesia, Primary, 2
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Dextrocardia OMIM:606763
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br... OMIM:617047
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Pulmonic stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septa... OMIM:249670
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Dextrocardia, Patent ductus arteriosus ORPHA:2863
Uncombable Hair Syndrome 1
Uncombable hair, Pili canaliculi, Dry hair OMIM:191480
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Congenital diaphragmatic hernia, Atrioventricular canal defect, Abnormal ... ORPHA:1120
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A... OMIM:618719
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Abdominal situs inversus OMIM:619607
Malignant Atrophic Papulosis
Ischemic stroke, Gastrointestinal hemorrhage, Arteritis, Pleural effusion, Abnormal pericardium m... ORPHA:679
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice, Conjugated hyperbilirubinemia OMIM:237500
Cantu Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Curly eyelashes, Congenital, generalized hypertr... OMIM:239850
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Bradycardia, Hypertrophic cardiomyopathy, Persistent left superior ... OMIM:618775
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Death in... OMIM:612158
Hemochromatosis, Type 2A
Congestive heart failure, Hyperpigmentation of the skin, Azoospermia, Infertility, Cardiomyopathy... OMIM:602390
Indomethacin Embryofetopathy
Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Ventricular septal defect, Oligohydramnios ORPHA:1909
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Ventricular hypertrophy, Bradycardia, Left ventricular hypertrophy OMIM:619048
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Hypopigmentation of hair, Hypertrophic cardiomyopathy, Stroke-like epis... ORPHA:70472
Congenital Enterovirus Infection
Myocarditis, Polyhydramnios, Hydrops fetalis, Pleural effusion, Cardiomyopathy, Hypotension, Peri... ORPHA:292
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Facial pal... OMIM:612387
Systemic-Onset Juvenile Idiopathic Arthritis
Joint swelling, Pericarditis, Pleural effusion ORPHA:85414
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Prolonged QT interval, Tachycardia, Patent foramen ovale, Pericardial effus... ORPHA:26793
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Hypoplastic left atrium, Neonatal death, Pulmonary hypoplasia, V... OMIM:615524
Alpha-Thalassemia
Congestive heart failure, Hydrops fetalis, Pleural effusion, Generalized edema, Pericardial effusion ORPHA:846
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:617222
Poems Syndrome
Leukonychia, Erectile dysfunction, Hyperpigmentation of the skin, Pleural effusion, Ascites, Pulm... ORPHA:2905
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Congestive heart failure, Patent ductus arteriosus, Atrial fibri... ORPHA:1880
Mitochondrial Complex I Deficiency, Nuclear Type 30
Congestive heart failure, Neonatal death OMIM:301021
Ritscher-Schinzel Syndrome 1
Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot, Double outlet right ventricle, Atr... OMIM:220210
Scedosporiosis
Pleuritis, Bronchitis, Pleural empyema, Pericarditis, Pulmonary fibrosis, Pneumonia, Endocarditis ORPHA:449280
Crigler-Najjar Syndrome, Type Ii
Jaundice, Unconjugated hyperbilirubinemia OMIM:606785
Reticular Dysgenesis
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Immunodeficiency 91 And Hyperinflammation
Abnormal pulmonary interstitial morphology, Death in childhood, Recurrent lower respiratory tract... OMIM:619644
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... ORPHA:1329
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Edema, Hypoplasia of right ven... OMIM:212093
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Immune-Mediated Necrotizing Myopathy
Myocarditis, Congestive heart failure, Abnormal pulmonary interstitial morphology, Myositis, Scap... ORPHA:206569
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia OMIM:615297
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... ORPHA:158057
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion, Thick eyebrow, Widow's peak OMIM:614684
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Hydrops fetalis, Predominantly lower limb lymphedema, Absent eyelashes, Pleural ... ORPHA:69735
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Congestive heart failure, Perimembranous ventricular septal d... ORPHA:99094
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ... OMIM:224120
Naxos Disease
Congestive heart failure, Paroxysmal ventricular tachycardia, Abnormality of hair texture, Cardio... ORPHA:34217
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Pulmonary sequestration, Aplasia of the left hemidiaphragm, Abno... ORPHA:2847
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Intestinal lymphangiectasia, Spina bifida occulta, Pleural lymphang... OMIM:235510
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Death in childhood, Secundum atrial septal defect, Nonimmune hydrops fe... OMIM:620609
Familial Cutaneous Collagenoma
Angina pectoris, Congestive heart failure, Atrial septal defect, Cardiomyopathy ORPHA:53296
Pediatric Systemic Lupus Erythematosus
Myositis, Pleural effusion, Ascites, Pericardial effusion, Raynaud phenomenon, Muscle weakness, E... ORPHA:93552
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
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy... OMIM:235700
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Mulibrey Nanism
Congestive heart failure, Hydrops fetalis, Recurrent lower respiratory tract infections, Ascites,... OMIM:253250
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... ORPHA:99103
Cardiomyopathy, Dilated, 2H
Reduced left ventricular ejection fraction, Secundum atrial septal defect, Muscular ventricular s... OMIM:620203
Danon Disease
Lower limb amyotrophy, Myocardial necrosis, Distal muscle weakness, Severely reduced left ventric... OMIM:300257
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Stuve-Wiedemann Syndrome 2
Stillbirth, Congestive heart failure, Death in adolescence, Pulmonary arterial hypertension, Camp... OMIM:619751
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Persistent left superior vena cava, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arterio... ORPHA:3304
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Aortic aneurysm, Patent foramen ovale, Distal amyotrophy, Persistent left superior vena cava, Abn... ORPHA:477817
Acquired Partial Lipodystrophy
Lipoatrophy, Lymphocytosis, Microscopic hematuria, Proteinuria, Hepatic steatosis ORPHA:79087
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Skeletal muscle atrophy, Knee flexion contracture, Atrial septal defect, Ventricul... OMIM:603387
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Pontocerebellar atrophy, Atelectasis, Recurrent lower respiratory tract infec... ORPHA:258
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Abnormal tricuspid valve morphology, Dextrocardia, Meningocele ORPHA:1759
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune... OMIM:153400
Polymyositis
Abnormal atrioventricular conduction, Congestive heart failure, Abnormal pulmonary interstitial m... ORPHA:732
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Atrial septal defect, Atrioventricular canal defect, Abnormal he... DECIPHER:39
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Wolff-Parkinson-White syndrome, Myopathy, Hypertrophic cardiomyopathy OMIM:618234
Crigler-Najjar Syndrome, Type I
Jaundice, Unconjugated hyperbilirubinemia OMIM:218800
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Interrupted aortic arch, Pulmonary artery atresia,... OMIM:192430
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Neonatal cholestatic liver disease, Splenomega... OMIM:214900
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia ORPHA:324588
Classic Multiminicore Myopathy
Congestive heart failure, Muscular dystrophy, Poor head control, Weakness of facial musculature, ... ORPHA:324604
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Neuronal loss in central nervous system, Astrocytosis, Gliosis, Recurrent aspir... ORPHA:204
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Cardiac Valvular Dysplasia, X-Linked
Congestive heart failure, Aortic regurgitation, Short chordae tendineae of the tricuspid valve, T... OMIM:314400
Meacham Syndrome
Abnormal lung lobation, Situs inversus totalis, Congenital diaphragmatic hernia, Transposition of... ORPHA:3097
Cardiomyopathy, Dilated, 2F
Congestive heart failure, Ventricular fibrillation, Ventricular tachycardia, Severely reduced lef... OMIM:619747
Obesity And Hypopigmentation
Red hair OMIM:620195
Transaldolase Deficiency
Hydrops fetalis, Coarctation of aorta, Edema, Atrial septal defect, Biventricular hypertrophy, Te... ORPHA:101028
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Pleural effusion, Ascites, Abnormal lymphatic vessel morphology, Gen... ORPHA:90362
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Va... OMIM:308240
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Congestive heart failure, Polyhydramnios, Muscle weakness OMIM:616794
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation, Pulmonary artery atresia, Secundum atrial septal defe... OMIM:108900
Congenital Disorder Of Glycosylation, Type Il
Cerebral atrophy, Global brain atrophy, Hydrops fetalis, Cerebellar atrophy, Ascites, Pericardial... OMIM:608776
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Premature coronary artery atherosclerosis, Azoospermia, Hypertension, I... OMIM:615703
Isolated Polycystic Liver Disease
Increased total bilirubin, Hepatomegaly, Abnormality of the pancreas, Polycystic liver disease ORPHA:2924
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent lower respiratory tract infect... OMIM:620233
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov... OMIM:619371
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Abnormal aortic valve morphology, Hypertrophic cardiomyopathy, Death in... ORPHA:1194
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion, Nonimmune hydrops fet... OMIM:619313
Naxos Disease
Nail dystrophy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Abnormal h... OMIM:601214
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Stroke, Cardiomyopathy, Arrhythmia, Atrial septal defect, Ventricular sep... OMIM:249270
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pleural effusion, Ascites, Death in infancy, Pericardial effusion, Hematochezia, ... OMIM:618183
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Pulmonary sequestration, Ventricular septal defect, Patent ductus arteriosus OMIM:618330
Osteopetrosis, Autosomal Recessive 5
Splenomegaly, Optic atrophy, Cranial hyperostosis, Pancytopenia, Increased bone mineral density, ... OMIM:259720
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:277580
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Q Fever
Myocarditis, Abnormal vascular morphology, Abnormal pulmonary interstitial morphology, Abnormal l... ORPHA:781
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Congestive heart failure, Polyhydramnios, Facial hypotonia, Decreased muscle mass, Atrial septal ... ORPHA:500533
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Nemaline Myopathy 9
Polyhydramnios, Ventricular septal defect, Nemaline bodies, Arthrogryposis multiplex congenita OMIM:615731
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Glomerulonephritis, Lymphopenia OMIM:247800
Idiopathic Pulmonary Arterial Hypertension
Elevated pulmonary artery pressure, Congestive heart failure, Abnormal jugular vein morphology, P... ORPHA:275766
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli... OMIM:266200
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pulmonary pneumatocele, Acute infectious pneumonia, Pleural empyema, Pleural effusi... ORPHA:36238
Aspergillosis
Hypersensitivity pneumonitis, Pleuritis, Stroke, Pleural effusion, Bronchiectasis, Intracranial h... ORPHA:1163
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Hemochromatosis, Type 2B
Congestive heart failure, Hyperpigmentation of the skin, Secondary amenorrhea, Cardiomyopathy, Hy... OMIM:613313
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Ragged-red muscle fibers, Hypertension, Hypertrophic cardiomyopathy, Pr... ORPHA:1349
Meckel Syndrome, Type 8
Pericardial effusion, Occipital encephalocele, Encephalocele OMIM:613885
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Cirrhosis, Intrahepatic cholestasis, Portal fibrosis, Macrovesicular hepati... OMIM:605814
Interatrial Communication
Atrial septal defect, Congestive heart failure, Atrial flutter, Sinus venosus atrial septal defec... ORPHA:1478
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic a... ORPHA:75564
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia... OMIM:614300
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Immunodeficiency 21
Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Lymp... OMIM:614172
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Reduced muscle carnitine level, Cardiomyopathy, Dehydration, Hypertroph... OMIM:212140
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Pleural effusion, Abnormal lymphatic vessel morphology, Pericardial effusion... ORPHA:464329
Inherited Creutzfeldt-Jakob Disease
Senile plaques, Global brain atrophy, Neuronal loss in central nervous system, Astrocytosis, Cent... ORPHA:282166
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Poor head control, Death in infancy, Axial muscle weakness, Skeletal mu... ORPHA:157973
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Polyhydramnios, Recurrent respiratory infections, Chylothorax, Lymphedema, Pleur... OMIM:265300
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Congestive heart failure, Brain atrophy, Rimmed vacuoles, Cardiomyopathy, EMG: myopathic abnormal... ORPHA:52430
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, Heari... OMIM:600501
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Giant cell hepatitis, Steat... OMIM:607765
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hyperbilirubinemia, ... ORPHA:64743
Follicular Lymphoma
Lymphedema, Pleural effusion ORPHA:545
Hadziselimovic Syndrome
Ventricular hypertrophy, Pulmonary artery atresia, Tetralogy of Fallot, Atrial septal defect, Ven... OMIM:612946
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Dextrocardia, Low posterior hairline, Tricuspid regurgitation, Syn... OMIM:618929
Sickle Cell Anemia
Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia, Spina bifida occulta, Aplasia of posterior communicating ar... OMIM:613686
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Heterotaxy, Recurrent pneumonia, Bronchiectasis, Recurrent respiratory in... OMIM:613807
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal... ORPHA:2248
3-Methylglutaconic Aciduria, Type V
Congestive heart failure, Prolonged QT interval, Noncompaction cardiomyopathy, Diaphragmatic even... OMIM:610198
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Hypertension, Renal artery stenosis, Generalized arterial calcification... OMIM:208000
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Neck muscle weakness, Limb hypertonia, Generalized muscle weakness, Fac... OMIM:606703
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd... OMIM:263300
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Portal fibrosis, Hyperbilirubinemia, Bile duct proliferation, ... OMIM:210500
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Pancreatitis, Increased serum bile acid concentration, Intrahepatic cholestasis wit... OMIM:243300
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Progressive Non-Fluent Aphasia
Frontotemporal cerebral atrophy, Astrocytosis, Senile plaques, Temporal cortical atrophy ORPHA:100070
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Upper limb muscle weakness, Basal ganglia gliosis, Atrophy/Degeneration involving t... ORPHA:225154
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Congenital Myopathy 11
Polyhydramnios, Weakness of facial musculature, Patent foramen ovale, Patent ductus arteriosus, A... OMIM:619967
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Giant Cell Arteritis
Recurrent pharyngitis, Vasculitis, Cerebral ischemia, Double outlet right ventricle with subpulmo... ORPHA:397
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Prelingual sensorineural hearing impairment, Clinodactyly of the 5th finger, Sensorineural hearin... ORPHA:73272
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome