Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
aryl-hydrocarbon receptor-interacting protein
Synonyms:
Xap2,  Fkbp16,  D19Bwg1412e,  Ara9

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Aip 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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Patent Ductus Arteriosus 3
Patent ductus arteriosus OMIM:617039
Patent Ductus Arteriosus 1
Patent ductus arteriosus OMIM:607411
Patent Ductus Arteriosus 2
Patent ductus arteriosus OMIM:617035
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormality of connective tissue, Descending thoracic aorta aneurysm, Hypertension, Descending ao... ORPHA:91387
Immune Thrombocytopenia
Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Epistaxis, Cerebral hemorrhag... ORPHA:3002
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Glanzmann Thrombasthenia
Spontaneous hematomas, Purpura, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Gi... ORPHA:849
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Cutaneous Collagenous Vasculopathy
Diffuse telangiectasia, Vascular skin abnormality, Petechiae, Prominent superficial blood vessels... ORPHA:280779
Bleeding Disorder, Platelet-Type, 8
Abnormal bleeding, Ecchymosis, Epistaxis, Persistent bleeding after trauma, Bruising susceptibili... OMIM:609821
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Petechiae, Bruising susceptibility, Mitral valve prolapse, Atypical scarring of skin, Striae dist... OMIM:225310
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Factor Xiii, B Subunit, Deficiency Of
Abnormal bleeding, Abnormal umbilical stump bleeding, Ecchymosis, Bruising susceptibility, Prolon... OMIM:613235
Fetal And Neonatal Alloimmune Thrombocytopenia
Spontaneous hematomas, Purpura, Gastrointestinal hemorrhage, Abnormal bleeding, Melena, Cephalohe... ORPHA:853
Evans Syndrome
Jaundice, Petechiae, Epistaxis, Syncope, Bruising susceptibility, Pallor ORPHA:1959
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial se... OMIM:617912
Congenital Heart Block
Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval, Gallop rhythm, Pa... ORPHA:60041
Factor Xiii, A Subunit, Deficiency Of
Spontaneous hematomas, Abnormal bleeding, Gingival bleeding, Abnormal umbilical stump bleeding, J... OMIM:613225
Acute Peripheral Arterial Occlusion
Myocardial infarction, Stroke, Supraventricular tachycardia, Abnormal capillary physiology, Abnor... ORPHA:90064
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism, Warfarin-induced skin necrosis OMIM:612336
Hemophilia A
Hematemesis, Purpura, Melena, Muscle hemorrhage, Petechiae, Gingival bleeding, Joint hemorrhage, ... OMIM:306700
Congenital Factor Xiii Deficiency
Spontaneous hematomas, Prolonged bleeding after dental extraction, Post-partum hemorrhage, Oral c... ORPHA:331
Von Willebrand Disease
Gastrointestinal hemorrhage, Muscle hemorrhage, Venous insufficiency, Petechiae, Abnormal mitral ... ORPHA:903
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrops fetalis, Atrial flutter, Lymphedema, Omphalocele, Vascular ring, Patent ductus arteriosus... OMIM:601927
Cardiac Diverticulum
Abnormal coronary artery origin, Premature ventricular contraction, Aortic valve stenosis, Abnorm... ORPHA:1686
Immune Dysregulation, Autoimmunity, And Autoinflammation
Petechiae, Ecchymosis, Epistaxis, Gingival bleeding OMIM:620514
Bleeding Disorder, Platelet-Type, 11
Menorrhagia, Ecchymosis, Bruising susceptibility, Epistaxis, Prolonged bleeding time OMIM:614201
Glanzmann Thrombasthenia 1
Purpura, Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Gingival bleeding... OMIM:273800
Partial Atrioventricular Septal Defect
Coronary sinus enlargement, Aortic valve stenosis, Heart murmur, Bicuspid aortic valve, Abnormal ... ORPHA:1330
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Purpura, Pulmonary embolism OMIM:612304
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Left ventricular outflow tract ... OMIM:613854
Portal Hypertension, Noncirrhotic, 2
Petechiae, Ascites, Portal hypertension, Epistaxis, Ecchymosis OMIM:619463
Cutaneous Small Vessel Vasculitis
Purpura, Vasculitis, Urticaria, Cutis marmorata, Erythema ORPHA:889
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Bruising susceptibility, Ecchymosis, Epistaxis OMIM:614009
Thrombocytopenia 5
Petechiae, Bruising susceptibility, Epistaxis OMIM:616216
Snakebite Envenomation
Myocardial infarction, Abnormal bleeding, Tachycardia, Stroke, Gingival bleeding, Cerebral ischem... ORPHA:449285
Dengue Fever
Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Ascites, Hypotension, Epistaxis, Cereb... ORPHA:99828
Orthostatic Hypotensive Disorder, Streeten Type
Syncope, Bruising susceptibility, Facial erythema, Orthostatic hypotension OMIM:143850
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Purpura, Skin ulcer, Venous insufficiency, Subcutaneous hemorrhage, Abnormal cerebral vascular mo... ORPHA:743
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis,... OMIM:615779
Complement Component 4A Deficiency
Vasculitis, Purpura, Cutaneous photosensitivity OMIM:614380
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol concentration OMIM:201910
Congenital Sialidosis Type 2
Inguinal hernia, Petechiae, Ascites, Abnormal heart morphology, Cherry red spot of the macula, Um... ORPHA:93400
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Bruising susceptibility, Epistaxis, Prolonged bleeding time OMIM:314050
Pseudo-Torch Syndrome 2
Bradycardia, Petechiae, Pleural effusion, Ascites, Secundum atrial septal defect, Cerebral hemorr... OMIM:617397
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Stroke, Cardiac arrest, Pallor, Paroxysmal atrial tachycardia, Atrial s... ORPHA:49827
Bernard-Soulier Syndrome
Hematemesis, Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Petechiae, Sp... ORPHA:274
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Petechiae, Vasculitis in the skin, Purpura OMIM:620296
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Purpura, Venous insufficiency, Warfarin-induced skin necrosis, Abnormal cerebral vascular morphol... ORPHA:745
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Capillary leak, Pleural effusion, Ascites, Hypovolemia, Generalized edema, Perip... ORPHA:64739
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:404
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Bernard-Soulier Syndrome
Purpura, Abnormal bleeding, Gastrointestinal hemorrhage, Gingival bleeding, Menorrhagia, Epistaxi... OMIM:231200
Prothrombin Deficiency, Congenital
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Menorrhagia, Joint he... OMIM:613679
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... ORPHA:403
Hemophilia B
Hematemesis, Prolonged prothrombin time, Gastrointestinal hemorrhage, Melena, Petechiae, Joint he... OMIM:306900
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Petechiae, Persistent bleeding after trauma, Epistaxis, Bruising susceptibility OMIM:300367
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Abnormal bleeding, Petechiae, Ecchymosis, Epistaxis, Prolonged bleed... OMIM:187900
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Tetralogy of Fallot, Omphalocele OMIM:613630
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Scimitar Syndrome
Mitral atresia, Left-to-right shunt, Abnormal heart morphology, Hernia, Interrupted inferior vena... ORPHA:185
Cryoglobulinemic Vasculitis
Purpura, Skin ulcer, Gastrointestinal hemorrhage, Petechiae, Vasculitis, Cutis marmorata ORPHA:91138
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus ORPHA:1208
Acquired Purpura Fulminans
Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Intracranial hemorrhage, Acrocy... ORPHA:49566
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Aortopulmonary window, Abnormal ascending ... ORPHA:2299
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ... OMIM:219080
Roch-Leri Mesosomatous Lipomatosis
Purpura, Multiple lipomas ORPHA:529
Primary Myelofibrosis
Purpura, Abnormal bleeding, Petechiae, Portal hypertension, Ecchymosis, Pallor ORPHA:824
Hypothyroidism, Congenital, Nongoitrous, 4
Umbilical hernia, Dry skin, Omphalocele OMIM:275100
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormal aortic arch morphology, Abnormality of blood circulation, Abnormal... ORPHA:860
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog... OMIM:620294
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Polyhydramnios, Diastasis recti, Omphalocele, Abnormal heart morphology, Umbilica... ORPHA:254534
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Petechiae, Prolonged QTc interval ORPHA:231111
Adams-Oliver Syndrome 4
Umbilical hernia, Cutis marmorata, Patent ductus arteriosus, Atrial septal defect, Ventricular se... OMIM:615297
Acute Promyelocytic Leukemia
Purpura, Abnormal bleeding, Petechiae, Gingival bleeding, Ecchymosis, Epistaxis, Bruising suscept... ORPHA:520
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Cyanosis, ... ORPHA:1209
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Omphalocele
Omphalocele ORPHA:660
Thrombocytopenia 10
Abnormal bleeding, Petechiae, Spontaneous, recurrent epistaxis, Menorrhagia, Bruising susceptibility OMIM:620484
Pseudo-Torch Syndrome 1
Jaundice, Petechiae, Patent foramen ovale, Umbilical hernia, Patent ductus arteriosus OMIM:251290
Microvillus Inclusion Disease
Dehydration, Hypovolemia ORPHA:2290
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Aortic aneu... OMIM:614980
Cocaine Intoxication
Ischemic stroke, Pulmonary edema, Prolonged QT interval, Supraventricular arrhythmia, Hypertensio... ORPHA:90068
Genitopalatocardiac Syndrome
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula... OMIM:231060
Colchicine Poisoning
Myocarditis, Congestive heart failure, Dehydration, Hypotension, Hypovolemia, Cardiogenic shock, ... ORPHA:31824
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Polyhydramnios, Hydrops fetalis, Pericarditis, Pallor, Oligohydramnios ORPHA:163596
Sea-Blue Histiocytosis
Edema, Petechiae, Abnormal bleeding ORPHA:158029
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Gingival bleeding, Menorrhagia, Ecchymosis, Epistaxis, Bruising susceptibility, Prolon... OMIM:153670
Meningococcal Meningitis
Purpura, Petechiae, Stroke, Hypotension, Shock ORPHA:33475
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism OMIM:613677
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Iga Nephropathy, Susceptibility To, 1
Purpura, Hypertension OMIM:161950
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Ehlers-Danlos Syndrome, Periodontal Type, 2
Inguinal hernia, Gingival bleeding, Fragile skin, Bruising susceptibility, Umbilical hernia, Atyp... OMIM:617174
Tufted Angioma
Petechiae, Purpura ORPHA:1063
Aicardi-Goutieres Syndrome 1
Purpura, Petechiae, Vasculitis, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Erythema OMIM:225750
Bleeding Disorder, Platelet-Type, 16
Petechiae, Abnormal bleeding OMIM:187800
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Nephrogenic Diabetes Insipidus
Hypovolemia, Polyhydramnios, Hypernatremic dehydration ORPHA:223
Epidermolysis Bullosa Simplex 5A, Ogna Type
Bruising susceptibility, Skin fragility with non-scarring blistering OMIM:131950
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased circulating cortisol ... OMIM:615830
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Bic... OMIM:618845
Leukocyte Adhesion Deficiency, Type Iii
Petechiae, Abnormal bleeding, Epistaxis OMIM:612840
Livedoid Vasculopathy
Ischemic stroke, Abnormal capillary morphology, Skin ulcer, Venous insufficiency, Macular purpura... ORPHA:542643
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Prolonged prothrombin time, Abnormal bleeding, Joint hemorrhage, Ecchymosis, Cerebral hemorrhage,... OMIM:277450
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Aortic regurgitation, Pulmonic stenosis, Patent duct... OMIM:607941
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Patent foramen ovale, Pulmonary artery atresia, Omphalocele, Tetralogy of... OMIM:618316
Marburg Hemorrhagic Fever
Prolonged prothrombin time, Abnormal bleeding, Jaundice, Bradycardia, Petechiae, Capillary leak, ... ORPHA:99826
Fixed Subaortic Stenosis
Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiomegaly, Left ventricu... ORPHA:3092
Recombinant Chromosome 8 Syndrome
Camptodactyly, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet ri... OMIM:179613
Double Outlet Right Ventricle
Cyanosis, Tachycardia, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctati... ORPHA:3426
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Kagami-Ogata Syndrome
Polyhydramnios, Inguinal hernia, Diastasis recti, Pulmonary arterial hypertension, Omphalocele, P... OMIM:608149
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACTH co... OMIM:615954
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Gaisböck Syndrome
Elevated diastolic blood pressure, Coronary artery atherosclerosis, Angina pectoris, Stroke, Hype... ORPHA:90041
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Sepsis In Premature Infants
Purpura, Abnormal bleeding, Jaundice, Bradycardia, Petechiae, Tachycardia, Hypotension, Edema, Pa... ORPHA:90051
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Ventricular septal defect, Umbilical hernia ORPHA:2143
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy... OMIM:614954
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilateral superior ven... OMIM:306955
Prolidase Deficiency
Petechiae, Prolonged neonatal jaundice, Skin ulcer, Diffuse telangiectasia OMIM:170100
Boutonneuse Fever
Petechiae, Vasculitis ORPHA:83313
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Complement Component 2 Deficiency
Purpura OMIM:217000
Hypothyroidism, Congenital, Nongoitrous, 6
Dry skin, Omphalocele OMIM:614450
Primary Release Disorder Of Platelets
Bruising susceptibility, Spontaneous, recurrent epistaxis, Abnormal bleeding, Menorrhagia OMIM:176630
Acute Adrenal Insufficiency
Orthostatic hypotension, Stroke, Hypotension, Dry skin, Hypovolemia, Myocardial infarction ORPHA:95409
Peripheral Cone Dystrophy
Pallor OMIM:609021
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:251274
Lysosomal Acid Lipase Deficiency
Jaundice, Coronary artery atherosclerosis, Stroke, Bone-marrow foam cells, Dehydration, Ascites, ... ORPHA:275761
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Ethylmalonic Encephalopathy
Petechiae, Acrocyanosis ORPHA:51188
Autoimmune Lymphoproliferative Syndrome, Type Iia
Petechiae, Vasculitis, Gastrointestinal hemorrhage, Urticaria OMIM:603909
Miller-Dieker Syndrome
Polyhydramnios, Omphalocele ORPHA:531
Gaucher Disease, Perinatal Lethal
Purpura, Polyhydramnios, Petechiae, Ascites, Neonatal death, Nonimmune hydrops fetalis, Cardiomeg... OMIM:608013
Hemochromatosis, Type 3
Purpura, Cardiomyopathy OMIM:604250
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Rheumatic Fever
Myocarditis, Abnormal aortic valve morphology, Abnormal heart valve morphology, Abnormal mitral v... ORPHA:3099
Wiskott-Aldrich Syndrome
Hematemesis, Spontaneous hematomas, Purpura, Skin ulcer, Petechiae, Vasculitis, Gingival bleeding... ORPHA:906
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis OMIM:602473
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Omphalocele ORPHA:93267
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A... OMIM:618719
Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension, Hypovolemia ORPHA:427
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Omphalocele, Camptodactyly of toe, Abnormal heart morphology, Umbilical hernia, ... OMIM:175700
Isolated Permanent Neonatal Diabetes Mellitus
Lower-limb joint contracture, Dehydration, Hypovolemia, Abnormal heart morphology, Arthrogryposis... ORPHA:99885
Hatipoglu Immunodeficiency Syndrome
Premature graying of hair, Inguinal hernia, Petechiae, Dry skin, Poor wound healing OMIM:620331
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus OMIM:614432
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations, Pallor ORPHA:276556
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for... OMIM:620570
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele OMIM:258320
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Abnorma... ORPHA:90793
Fetal Minoxidil Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:1918
Griscelli Syndrome Type 2
Petechiae, Premature graying of hair, Jaundice ORPHA:79477
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Ventricular septal defect, Omphalocele OMIM:601357
Pituitary Adenoma 4, Acth-Secreting
Purpura, Facial erythema, Hypertension, Ecchymosis, Edema, Bruising susceptibility, Poor wound he... OMIM:219090
Waldenström Macroglobulinemia
Congestive heart failure, Purpura, Gastrointestinal hemorrhage, Vasculitis, Stroke, Pleural effus... ORPHA:33226
Thrombocytopenia 3
Petechiae, Epistaxis OMIM:273900
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Persistent left superior vena c... ORPHA:3304
Boomerang Dysplasia
Polyhydramnios, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, Omphalocele ORPHA:1263
Fetal Cytomegalovirus Syndrome
Petechiae, Jaundice, Retinal hemorrhage ORPHA:294
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Purpura, Petechiae, Ecchymosis, Epistaxis, Bruising susceptibility, Prolonged bleeding time OMIM:601399
Ehlers-Danlos Syndrome, Classic Type, 2
Atrophic scars, Fragile skin, Cigarette-paper scars, Bruising susceptibility, Hernia OMIM:130010
Congenital Factor V Deficiency
Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleeding, Pr... ORPHA:326
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... ORPHA:231580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations, Pallor ORPHA:276575
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Omphalocele, Coarctation of aorta, Atrioventricular block, Mitral valve prolapse, B... ORPHA:371428
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Pallor, Hypertrophic cardiomyopathy OMIM:613561
Congenital Gerbode Defect
Elevated right atrial pressure, Left-to-right shunt, Pulmonic stenosis, Constrictive pericarditis... ORPHA:99095
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:249670
Breath-Holding Spells
Pallor, Cyanosis OMIM:607578
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Inguinal hernia, Poor wound healing, Bruising susceptibility, Atrial septal defect, Dermal transl... OMIM:619115
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations, Pallor ORPHA:276580
Bleeding Disorder In Hemophilia A Carriers
Spontaneous hematomas, Abnormal bleeding, Post-partum hemorrhage, Menorrhagia, Joint hemorrhage, ... ORPHA:177926
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Nonimmune hydrops fetalis, Dysplastic tricuspid valve, Bicuspid aortic valve, Misalignment of the... OMIM:265380
Fetal Valproate Spectrum Disorder
Omphalocele ORPHA:1906
Nut Midline Carcinoma
Pancreatic squamous cell carcinoma, Squamous cell carcinoma, Oropharyngeal squamous cell carcinom... ORPHA:443167
Familial Hemophagocytic Lymphohistiocytosis
Purpura, Jaundice, Petechiae, Ecchymosis, Bruising susceptibility ORPHA:540
Ritscher-Schinzel Syndrome 1
Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot, Double outlet right ventricle, Atr... OMIM:220210
Anti-Glomerular Basement Membrane Disease
Vasculitis, Purpura ORPHA:375
Hermansky-Pudlak Syndrome 1
Cardiomyopathy, Gingival bleeding, Ecchymosis, Hematochezia, Epistaxis, Bruising susceptibility, ... OMIM:203300
Heterotaxy, Visceral, 8, Autosomal
Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro... OMIM:617205
Thrombocytopenia 1
Petechiae, Bruising susceptibility, Joint hemorrhage, Epistaxis OMIM:313900
Rhabdoid Tumor Predisposition Syndrome 1
Medulloblastoma, Choroid plexus carcinoma OMIM:609322
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Adrenal hyperplasia, Decreased circulating cortisol level, ... ORPHA:90790
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Abnormal descending aorta morphology, Aortopulmonary window, Lef... ORPHA:99050
Congenital Syphilis
Myocarditis, Palmoplantar scaling skin, Purpura, Hydrops fetalis, Large placenta, Petechiae, Prol... ORPHA:499009
American Trypanosomiasis
Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia, Periorbital edema, Edema, Pallor ORPHA:3386
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Menorrhagia, Joint hemorrhage, Ecchymosis, Epistaxis, Intracranial h... ORPHA:324636
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Pulmonary edema, Melena, Petechiae, Capillary leak, Hypertension, Pleural effusion, ... ORPHA:340
Fucosidosis
Petechiae, Dry skin, Flexion contracture, Cherry red spot of the macula, Angiokeratoma, Cardiomeg... OMIM:230000
Afibrinogenemia, Congenital
Hematemesis, Abnormal bleeding, Epidural hemorrhage, Gingival bleeding, Prolonged bleeding follow... OMIM:202400
Kanzaki Disease
Angiokeratoma corporis diffusum, Telangiectasia of the oral mucosa, Lip telangiectasia, Petechiae... OMIM:609242
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Petechiae, Purpura OMIM:605432
Acalvaria
Spina bifida, Omphalocele ORPHA:945
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Omphalocele ORPHA:2141
Glioma Susceptibility 3
Acute myeloid leukemia, Medulloblastoma, Astrocytoma, B Acute Lymphoblastic Leukemia, Glioblastom... OMIM:613029
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Polyhydramnios, Omphalocele, Abnormal heart morphology, Flexion ... OMIM:263210
Grange Syndrome
Aortic regurgitation, Hypertension, Arterial stenosis, Patent ductus arteriosus, Ventricular sept... ORPHA:79094
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Non-Functioning Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:94080
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Partial anomalous pulmonary venous return, Dextrocardia, Ventricular septal... OMIM:619657
Hyperimmunoglobulinemia D With Periodic Fever
Purpura, Gastrointestinal hemorrhage, Vasculitis, Urticaria, Acrocyanosis, Erythema ORPHA:343
Aorta Coarctation
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aor... ORPHA:1457
Indomethacin Embryofetopathy
Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Ventricular septal defect, Oligohydramnios ORPHA:1909
Carpenter Syndrome 1
Transposition of the great arteries, Patent ductus arteriosus, Spina bifida occulta, Camptodactyl... OMIM:201000
Chromosome 9P Deletion Syndrome
Perimembranous ventricular septal defect, Inguinal hernia, Omphalocele, Heart murmur, Patent duct... OMIM:158170
Trisomy 1Q
Congenital diaphragmatic hernia, Hydrops fetalis, Polyhydramnios, Omphalocele, Increased nuchal t... ORPHA:261344
X-Linked Ehlers-Danlos Syndrome
Bruising susceptibility, Hernia, Inguinal hernia, Umbilical hernia ORPHA:75497
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Increased serum testosterone level, Hydrocele testis ORPHA:96181
Fibrinolytic Defect
Spontaneous hematomas OMIM:134900
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Congestive heart failure, Purpura, Vasculitis, Hypertension, Transient ischemic atta... ORPHA:183
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Hyperaldosteronism ORPHA:369929
Moderate Hemophilia A
Spontaneous hematomas, Gastrointestinal hemorrhage, Epidural hemorrhage, Abnormal bleeding, Gingi... ORPHA:169805
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility OMIM:614200
Deafness-Lymphedema-Leukemia Syndrome
Lymphedema, Bruising susceptibility, Intracranial hemorrhage, Prolonged bleeding time, Pallor ORPHA:3226
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary insufficiency, Congestive heart failure, Aortic regurgitation, Anomalous origin of left... ORPHA:2326
Mirage Syndrome
Petechiae, Intracranial hemorrhage, Patent ductus arteriosus OMIM:617053
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Increased serum testosterone level, Adrenoco... ORPHA:90791
Osteopetrosis, Autosomal Recessive 4
Petechiae OMIM:611490
Hereditary Amyloidosis With Primary Renal Involvement
Congestive heart failure, Purpura, Gastrointestinal hemorrhage, Petechiae, Hypertension ORPHA:85450
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... ORPHA:216694
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Pleuropulmonary Blastoma
Medulloblastoma, Rhabdomyosarcoma, Pleuropulmonary blastoma OMIM:601200
Pheochromocytoma/Paraganglioma Syndrome 7
Pheochromocytoma, Paraganglioma OMIM:618475
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Ectopia cordis, Transposition of the great arteries, Ventral her... OMIM:313850
Classical Ehlers-Danlos Syndrome
Arteriovenous fistula, Cigarette-paper scars, Arterial dissection, Bruising susceptibility, Mitra... ORPHA:287
Li-Fraumeni Syndrome
Rhabdomyosarcoma, Neoplasm of the pancreas, Neoplasm of the larynx, Choriocarcinoma, Hodgkin lymp... ORPHA:524
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Pleural effusion, Abnormal lymphatic vessel morphology, P... ORPHA:464329
Immunodeficiency 81
Petechiae OMIM:619374
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Renal cell carcinoma,... ORPHA:189427
Chikungunya
Abnormal bleeding, Erythema, Cutaneous photosensitivity, Petechiae, Gingival bleeding, Enthesitis... ORPHA:324625
Severe Hemophilia A
Persistent bleeding after trauma, Gastrointestinal hemorrhage, Epidural hemorrhage, Cephalohemato... ORPHA:169802
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Inguinal hernia, Atrophic scars, Mitral valve prolapse, Bruising susceptibi... OMIM:225320
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Anencephaly, Encephalocele, Omphalocele, Abnormal pericardium mo... ORPHA:1335
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... OMIM:618782
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Spontaneous Periodic Hypothermia
Pallor, Arrhythmia ORPHA:29822
Acute Myelomonocytic Leukemia
Pallor, Abnormal bleeding ORPHA:517
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Ventricular septal defect, Hy... OMIM:616276
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal adipose tissue morphology, In... ORPHA:2092
Medulloblastoma
Medulloblastoma OMIM:155255
Immunoglobulin A Vasculitis
Purpura, Skin ulcer, Gastrointestinal hemorrhage, Vascular skin abnormality, Vasculitis, Angioede... ORPHA:761
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Aortic valve stenosis, Menorrhagia, Joint hemorrhage, Epistaxis, Pro... OMIM:193400
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation, Pulmonary artery atresia, Secundum atrial septal defe... OMIM:108900
Familial Focal Epilepsy With Variable Foci
Pallor, Flushing ORPHA:98820
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Redundant neck skin, Polyhydramnios, Large placenta, Inguinal hernia, Diastasis recti, Wrist flex... ORPHA:254528
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Dehydration, Hypotension, Hypovolemia ORPHA:168558
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins, Ventri... OMIM:126320
Idiopathic Aplastic Anemia
Ecchymosis, Epistaxis, Retinal hemorrhage, Gingival bleeding ORPHA:88
Congenital Factor X Deficiency
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor... ORPHA:328
Nemaline Myopathy 9
Polyhydramnios, Arthrogryposis multiplex congenita, Ventricular septal defect OMIM:615731
Simple Cryoglobulinemia
Congestive heart failure, Purpura, Gastrointestinal hemorrhage, Acral ulceration, Vascular skin a... ORPHA:91139
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec... ORPHA:439
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Dehydration, Hypotension, Hypovolemia ORPHA:289548
Lujo Hemorrhagic Fever
Myocarditis, Purpura, Bradycardia, Hypotension, Generalized edema, Cerebral edema, Ecchymosis, Su... ORPHA:319213
Factor Vii Deficiency
Abnormal bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Intracranial hemorrhage, Bruising su... OMIM:227500
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Increased circulating dehydroepiandrosterone-sulfate concentration, Elevated ... OMIM:201810
Bleeding Disorder, Platelet-Type, 18
Menorrhagia, Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Prol... OMIM:615888
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus ORPHA:1455
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Inguinal hernia, Pulmo... OMIM:208530
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Pos... ORPHA:465
Proximal Renal Tubular Acidosis
Dehydration, Subvalvular aortic stenosis, Hypovolemia, Enamel hypomineralization ORPHA:47159
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125
Bleeding Disorder, Platelet-Type, 20
Bruising susceptibility, Menorrhagia, Epistaxis OMIM:616913
Von Willebrand Disease, Type 2
Bruising susceptibility, Menorrhagia, Epistaxis OMIM:613554
Cardiomyopathy, Dilated, 2H
Reduced left ventricular ejection fraction, Secundum atrial septal defect, Muscular ventricular s... OMIM:620203
Bleeding Disorder, Platelet-Type, 19
Spontaneous hematomas, Abnormal bleeding, Epistaxis, Menorrhagia OMIM:616176
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Aortic valve stenosis, Lower eyelid edema, Cutis laxa, Arrhythmia, A... ORPHA:363705
Optic Atrophy 1
Pallor OMIM:165500
Hemophilia A
Spontaneous hematomas, Gastrointestinal hemorrhage, Joint hemorrhage, Intracranial hemorrhage, Jo... ORPHA:98878
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in males, Increased serum... OMIM:202010
Schisis Association
Congenital diaphragmatic hernia, Anencephaly, Encephalocele, Spina bifida, Omphalocele ORPHA:63862
Hyperinsulinism Due To Hnf1A Deficiency
Syncope, Palpitations, Pallor, Tachycardia ORPHA:324575
Congenital Fibrinogen Deficiency
Prolonged prothrombin time, Abnormal bleeding, Cyanosis, Gingival bleeding, Internal hemorrhage, ... ORPHA:335
Beta-Thalassemia
Pallor, Skin ulcer, Hypertrophic cardiomyopathy ORPHA:848
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Diffuse alveolar hemorrhage, Pallor, Heart murmur ORPHA:99931
Distal Duplication 15Q
Camptodactyly of finger, Omphalocele ORPHA:1707
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Polyhydramnios, Ventricular septal defect, Pulmonary artery atresia, Pulmoni... OMIM:301056
Myopathic Ehlers-Danlos Syndrome
Ankle flexion contracture, Foot joint contracture, Shoulder flexion contracture, Elbow flexion co... ORPHA:536516
Lethal Congenital Contracture Syndrome 10
Hydrops fetalis, Omphalocele, Cardiomegaly, Overriding aorta, Ventricular septal defect, Oligohyd... OMIM:617022
Aortic Aneurysm, Familial Thoracic 4
Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, Posterior cerebral art... OMIM:132900
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Partial anomalous pulmonary venous return, Double inlet left ventr... OMIM:270100
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Subcutaneous hemorrhage, Bleeding with minor or no trauma, Excessive... OMIM:618462
Lambert Syndrome
Branchial anomaly, Jaundice, Ventricular septal defect, Inguinal hernia ORPHA:1296
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Juvenile Nephropathic Cystinosis
Dehydration, Hypovolemia ORPHA:411634
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Omphalocele OMIM:617895
Hemoglobin D Disease
Pallor ORPHA:90039
Bacterial Toxic-Shock Syndrome
Myocarditis, Scaling skin, Tachycardia, Capillary leak, Hypotension, Ecchymosis, Edema, Celluliti... ORPHA:36234
C Syndrome
Cutis laxa, Ventricular septal defect, Patent ductus arteriosus, Omphalocele OMIM:211750
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Ventricular septal hypertrophy... OMIM:115197
Acquired Von Willebrand Syndrome
Prolonged prothrombin time, Gastrointestinal hemorrhage, Aortic regurgitation, Melena, Hypotensio... ORPHA:99147
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Increased urinary cortisol level, Adrenal hyperp... ORPHA:786
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Edema, Hypoplasia of right ven... OMIM:212093
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Aortic aneurysm, Patent foramen ovale, Persistent left superior vena cava, Abnormal heart morphol... ORPHA:477817
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Neurooculocardiogenitourinary Syndrome
Redundant neck skin, Patent foramen ovale, Tricuspid regurgitation, Patent ductus arteriosus, Car... OMIM:618652
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Vascular dilatation, Excessive wrin... ORPHA:758
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Spina bifida occulta, Stroke, Precocious atherosclerosis, Mitral val... ORPHA:230839
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Polyhydramnios, Omphalocele, Enamel hypoplasia, Hematochezia, Ventricular septal defect OMIM:243150
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure, Pallor ORPHA:90037
Congenital Factor Vii Deficiency
Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin... ORPHA:327
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Ascites, Epistaxis, Diffuse alveol... ORPHA:99827
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Gray Platelet Syndrome
Bruising susceptibility, Abnormal bleeding, Epistaxis ORPHA:721
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect, Omphalocele OMIM:145420
Trigonocephaly 1
Omphalocele OMIM:190440
Triploidy
Abnormal cardiac septum morphology, Meningocele, Polyhydramnios, Omphalocele ORPHA:3376
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Hypoplastic left atrium, Ventricular septal defect, Neonatal death OMIM:615524
Glanzmann Thrombasthenia 2
Abnormal bleeding, Menorrhagia, Epistaxis, Prolonged bleeding time, Bruising susceptibility, Prol... OMIM:619267
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Ventricular septal defect OMIM:614876
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Bruising susceptibility, Atrophic scars, Hernia, Arterial rupture ORPHA:300179
Immunodeficiency, Common Variable, 6
Purpura OMIM:613496
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Cutis Laxa, Autosomal Dominant 1
Congestive heart failure, Aortic regurgitation, Inguinal hernia, Prematurely aged appearance, Red... OMIM:123700
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov... OMIM:619371
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, Encephalocele, Omphalocele, Coarctation of aorta, Atrial septal ... OMIM:264480
Caudal Duplication
Spina bifida, Myelomeningocele, Omphalocele ORPHA:1756
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Redundant neck skin, Patent ductus arteriosus, Inguinal hernia, Pedal edema, Pulmonary artery atr... OMIM:618164
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... ORPHA:1354
Arterial Tortuosity Syndrome
Congenital diaphragmatic hernia, Ischemic stroke, Aortic regurgitation, Inguinal hernia, Aortic r... OMIM:208050
Giant platelet syndrome with thrombocytopenia
Bruising susceptibility, Gastrointestinal hemorrhage, Prolonged bleeding after dental extraction OMIM:137560
Familial Multinodular Goiter
Basal cell carcinoma, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Colorectal p... ORPHA:276399
Short-Rib Thoracic Dysplasia 12
Polyhydramnios, Anencephaly, Inguinal hernia, Patent foramen ovale, Ascites, Omphalocele, Neonata... OMIM:269860
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Omphalocele OMIM:601163
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Ventricular septal defect, Umbilical hernia OMIM:222448
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane... ORPHA:229
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Congestive heart failure, Perimembranous ventricular septal d... ORPHA:99094
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Ventricular septal defect, Spina bifida, Gastroschisis, Hypoplastic left heart ORPHA:2476
Mixed Connective Tissue Disease
Myocarditis, Purpura, Gastrointestinal hemorrhage, Pulmonary arterial hypertension, Pericarditis,... ORPHA:809
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus OMIM:619717
Adams-Oliver Syndrome 6
Truncus arteriosus, Tricuspid regurgitation, Portal hypertension, Cutis marmorata, Ventricular se... OMIM:616589
Stormorken-Sjaastad-Langslet Syndrome
Purpura ORPHA:3204
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... OMIM:613759
Criss-Cross Heart
Transposition of the great arteries, Cyanosis, Tricuspid stenosis, Pulmonic stenosis, Abnormal mi... ORPHA:1461
Histiocytoid Cardiomyopathy
Pulmonary edema, Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Cyanos... ORPHA:137675
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Camptodactyly, Pulmonic stenosis, Atrial septal defect, Arthrogryposis... OMIM:614262
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Cyanosis, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Gene... OMIM:617478
Factor V Deficiency
Prolonged prothrombin time, Abnormal bleeding, Menorrhagia, Epistaxis, Bruising susceptibility, P... OMIM:227400
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Patent ductus arteriosus, Inguinal hernia, Patent foramen ovale,... OMIM:618454
Bilateral Striopallidodentate Calcinosis
Subcutaneous hemorrhage ORPHA:1980
Timothy Syndrome
Prolonged QT interval, Bradycardia, Patent foramen ovale, Pulmonary arterial hypertension, Tetral... OMIM:601005
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Cutis Marmorata Telangiectatica Congenita
Purpura, Arteriovenous malformation, Ascites, Cutis marmorata, Telangiectasia of the skin, Arteri... ORPHA:1556
Dyskeratosis Congenita, Autosomal Recessive 8
Petechiae OMIM:620133
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Ehlers-Danlos Syndrome, Classic-Like, 2
Ventral hernia, Inguinal hernia, Aortic root aneurysm, Prematurely aged appearance, Atrophic scar... OMIM:618000
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal ovarian morphology, Abnormal circulating pregnenolone concentration, De... ORPHA:95699
Noonan Syndrome 12
Polyhydramnios, Ventricular septal defect, Tetralogy of Fallot, Supravalvular aortic stenosis OMIM:618624
Wiskott-Aldrich Syndrome
Small vessel vasculitis, Hematemesis, Large vessel vasculitis, Purpura, Melena, Petechiae, Gingiv... OMIM:301000
Noonan Syndrome 8
Polyhydramnios, Palmoplantar cutis laxa, Pleural effusion, Hypertrophic cardiomyopathy, Pulmonic ... OMIM:615355
X-Linked Intellectual Disability, Nascimento Type
Abnormal vena cava morphology, Patent foramen ovale, Dry skin, Pulmonary arterial hypertension, O... ORPHA:163956
Atrial Septal Defect 1
Bicuspid aortic valve, Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with ... OMIM:108800
Fibrochondrogenesis 1
Stillbirth, Hydrops fetalis, Patent foramen ovale, Camptodactyly, Omphalocele, Joint contracture ... OMIM:228520
Combined Deficiency Of Factor V And Factor Viii
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Prolonged bleeding fo... ORPHA:35909
Mosaic Trisomy 1
Congenital diaphragmatic hernia, Polyhydramnios, Elbow flexion contracture, Pulmonary artery atre... ORPHA:1692
Catel-Manzke Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect ORPHA:1388
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Abnormal atrial arrangement, Abnorma... ORPHA:244
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Scarring, Tricuspid valve prolapse, Aortic regurgitation, Atrophic scars, Diastasis recti, Tricus... OMIM:601776
Cushing Disease
Purpura, Skin ulcer, Myocardial infarction, Stroke, Hypertension, Capillary fragility, Plethora, ... ORPHA:96253
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Gingival bleeding, Abnormal umbilical stump bleeding, Joint hemorrhage, Intrac... ORPHA:79
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Flexion contracture, Patent ductus arteriosus, Tachycardia, Atrial septal defect, V... OMIM:613870
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema, Cerebral edema ORPHA:439218
Robinow Syndrome, Autosomal Dominant 3
Patent foramen ovale, Pulmonary artery atresia, Camptodactyly, Omphalocele, Tricuspid regurgitati... OMIM:616894
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
3Mc Syndrome 1
Spina bifida occulta, Diastasis recti, Omphalocele, Conjunctival telangiectasia, Abnormality of t... OMIM:257920
Absence Of The Pulmonary Artery
Abnormal inferior vena cava morphology, Abnormal heart morphology, Cardiomegaly, Abnormal cardiac... ORPHA:980
Giant Cell Arteritis
Skin ulcer, Vasculitis, Cerebral ischemia, Double outlet right ventricle with subpulmonary ventri... ORPHA:397
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc... OMIM:605376
Chronic Intestinal Pseudoobstruction
Patent ductus arteriosus ORPHA:2978
Pagod Syndrome
Congenital diaphragmatic hernia, Situs inversus totalis, Encephalocele, Meningocele, Abnormal aor... ORPHA:991
Fryns Syndrome
Congenital diaphragmatic hernia, Polyhydramnios, Abnormal aortic arch morphology, Abnormal aortic... ORPHA:2059
Meacham Syndrome
Stillbirth, Transposition of the great arteries, Partial anomalous pulmonary venous return, Dextr... OMIM:608978
Myelofibrosis
Purpura, Pallor OMIM:254450
Bleeding Disorder, Platelet-Type, 25
Excessive bleeding from superficial cuts, Post-partum hemorrhage, Spontaneous, recurrent epistaxi... OMIM:620486
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Mitral regurgitation, Abnormal cardiac septum morphology ORPHA:83473
Ehlers-Danlos Syndrome, Vascular Type
Hemothorax, Inguinal hernia, Cigarette-paper scars, Recurrent intrapulmonary hemorrhage, Uterine ... OMIM:130050
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Inguinal hernia, Aortic root aneurysm,... ORPHA:2745
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Dehydration, Hypotension, Hypovolemia, Shock ORPHA:90794
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Patent ductus arteriosus, At... OMIM:612561
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Ventral hernia, Camptodactyly, Omphalocele OMIM:618529
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Congestive heart failure, Pallor, Jaundice ORPHA:90033
Ehlers-Danlos Syndrome, Classic-Like, 1
Atrophic scars, Quadricuspid aortic valve, Increased connective tissue, Mitral valve prolapse, Br... OMIM:606408
Scorpion Envenomation
Myocarditis, Pulmonary edema, Purpura, Congestive heart failure, Tachycardia, Prominent U wave, S... ORPHA:466677
Chromosome 10Q26 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Omphalocele OMIM:609625
Q Fever
Myocarditis, Abnormal vascular morphology, Purpura, Abnormal left ventricular function, Vasculiti... ORPHA:781
Vacterl/Vater Association
Congenital diaphragmatic hernia, Occipital encephalocele, Polyhydramnios, Anencephaly, Omphalocel... ORPHA:887
Sporadic Pheochromocytoma/Secreting Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:276621
Cinca Syndrome
Edema, Urticaria, Purpura ORPHA:1451
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Lipoma, Odontoma, Thyroid nodule, Desmoid tumors, Fibroadenoma of the b... ORPHA:247806
Kasabach-Merritt Phenomenon
Petechiae, Prolonged prothrombin time, Purpura, Abnormal lymphatic vessel morphology ORPHA:2330
Isolated Anencephaly
Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Prune belly, Omphalocele OMIM:601389
Esophageal Atresia
Polyhydramnios, Cyanosis, Omphalocele, Coarctation of aorta, Tetralogy of Fallot, Pallor, Ventric... ORPHA:1199
Fanconi Anemia, Complementation Group I
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Pallor OMIM:609053
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:261120
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Cyanosis, Bicuspid pulm... ORPHA:3427
Varicose Veins
Varicose veins OMIM:192200
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia, Pulmonary arterial hypertension, Aortic valve stenosis, Pul... OMIM:615067
Congenital Dyserythropoietic Anemia Type Iii
Melena, Post-partum hemorrhage, Gingival bleeding, Pallor, Oral cavity bleeding ORPHA:98870
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Menorrhagia, Joint hemorrhage, Epistaxis, Persistent ... OMIM:277480
Maternal Phenylketonuria
Coarctation of aorta, Abnormal heart morphology, Tetralogy of Fallot, Bladder exstrophy, Double o... ORPHA:2209
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Retinitis Pigmentosa 51
Pallor OMIM:613464
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Purpura, Skin ulcer, Panniculitis, Vasculitis, Renal artery aneurysm, Stroke, Hypertension, Porta... OMIM:615688
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Pallor, Abnormal bleeding ORPHA:75564
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Jaundice OMIM:615631
Loeys-Dietz Syndrome 6
Congenital diaphragmatic hernia, Arterial tortuosity, Ventricular hypertrophy, Aortic tortuosity,... OMIM:619656
Polymerase Proofreading-Related Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Brain neoplasm, Aden... ORPHA:447877
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Atrial septal defect, Patent ductus arteriosus OMIM:614886
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Umbilical hernia, Arrhythmia, Tetralogy of Fallot, Patent ductus arteriosus, Atrial ... ORPHA:1519
Slc35A1-Cdg
Abnormal bleeding, Cellulitis, Pulmonary hemorrhage, Subcutaneous hemorrhage, Prolonged bleeding ... ORPHA:238459
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Umbilical hernia, Polyhydramnios, Neoplasm of the heart, Omphalocele ORPHA:2241
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Bruising susceptibility, Poor wound healing, Dermal translucency, Arterial rupture OMIM:619120
Bladder Exstrophy
Umbilical hernia, Omphalocele, Inguinal hernia, Bladder exstrophy ORPHA:93930
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Abnormal heart morphology, Te... ORPHA:2847
Melnick-Needles Syndrome
Abnormal cardiac septum morphology, Omphalocele ORPHA:2484
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Menorrhagia, Epistaxis, Bruising susceptibility, Prolonged bleeding time, Myoc... OMIM:155100
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Ventricular septal defect, Aortic root aneurysm, Double outlet right ventr... OMIM:616652
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Alg9-Cdg
Atrial septal defect, Hydrops fetalis, Abnormal left ventricular outflow tract morphology, Tricus... ORPHA:79328
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Ventricular septal defect, Abnormal aortic morphology, Tetralogy... ORPHA:1166
Microscopic Polyangiitis
Congestive heart failure, Gastrointestinal hemorrhage, Skin ulcer, Vasculitis, Pericarditis, Cuti... ORPHA:727
Cushing Syndrome Due To Ectopic Acth Secretion
Neoplasm of the stomach, Pheochromocytoma, Adrenal hyperplasia, Pulmonary carcinoid tumor, Medull... ORPHA:99889
Cutis Laxa, Autosomal Recessive, Type Ia
Congenital diaphragmatic hernia, Aortic regurgitation, Inguinal hernia, Ascending tubular aorta a... OMIM:219100
Bardet-Biedl Syndrome 19
Partial atrioventricular canal defect, Patent ductus arteriosus, Atrial septal defect, Ventricula... OMIM:615996
Meckel Syndrome, Type 2
Meningocele, Anencephaly, Encephalocele, Omphalocele OMIM:603194
Down Syndrome
Redundant neck skin, Atrioventricular canal defect, Partial anomalous pulmonary venous return, Pa... OMIM:190685
Bleeding Disorder, Platelet-Type, 12
Menorrhagia, Joint hemorrhage, Epistaxis, Intestinal bleeding, Bruising susceptibility OMIM:605735
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Ascites, Pulmonary arterial hypertension, Nonimmune hydrops fetalis, Patent ductus ... OMIM:617021
Constricting Bands, Congenital
Ectopia cordis, Encephalocele, Omphalocele, Bladder exstrophy, Gastroschisis OMIM:217100
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Oligohydramnios, Omphalocele ORPHA:1834
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Leishmaniasis
Pallor, Skin ulcer, Abnormal bleeding ORPHA:507
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Trisomy 18
Congenital diaphragmatic hernia, Anencephaly, Ventricular septal defect, Omphalocele, Spina bifid... ORPHA:3380
Attenuated Chédiak-Higashi Syndrome
Bruising susceptibility, Skin ulcer, Epistaxis, Gingival bleeding ORPHA:352723
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular canal defect, Abnormal aortic morphology, Ventri... ORPHA:392
Craniorachischisis
Congenital diaphragmatic hernia, Sirenomelia, Anencephaly, Myelomeningocele, Omphalocele, Spinal ... ORPHA:63260
Refractory Anemia With Excess Blasts
Abnormal bleeding, Anemic pallor, Retinal hemorrhage, Palpitations, Pedal edema ORPHA:86839
Hadziselimovic Syndrome
Ventricular hypertrophy, Pulmonary artery atresia, Tetralogy of Fallot, Atrial septal defect, Ven... OMIM:612946
Miller-Dieker Lissencephaly Syndrome
Polyhydramnios, Inguinal hernia, Camptodactyly, Omphalocele, Abnormal heart morphology, Abnormali... OMIM:247200
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Mitral regurgitation, Aortic valve stenosis ORPHA:3449
Dravet Syndrome
Pallor, Cyanotic episode ORPHA:33069
Eisenmenger Syndrome
Aortopulmonary window, Ascites, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Abn... ORPHA:97214
Granulomatosis With Polyangiitis
Purpura, Skin ulcer, Gastrointestinal hemorrhage, Angina pectoris, Vasculitis, Hypertension, Cere... ORPHA:900
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Ventricular septal defect, Edema, Dilated cardiomyopathy, Arthrogryposis multiple... OMIM:607598
Xk Aprosencephaly Syndrome
Polyhydramnios, Atrial septal defect, Ventricular septal defect ORPHA:3469
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Colonic Atresia
Gastroschisis, Omphalocele ORPHA:1198
Li-Campeau Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:619189
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Edema, Anemic pallor, Hematochezia, Abnormal bleeding ORPHA:329971
Ehlers-Danlos Syndrome, Periodontal Type, 1
Inguinal hernia, Atrophic scars, Gingival bleeding, Fragile skin, Umbilical hernia, Bruising susc... OMIM:130080
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cutis marmorata, Hernia, Ventricular septal defect OMIM:602501
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Wolcott-Rallison Syndrome
Jaundice, Dehydration, Ascites, Double outlet right ventricle, Atrial septal defect ORPHA:1667
Hydrocephaly-Low Insertion Umbilicus Syndrome
Hernia of the abdominal wall, Anomalous pulmonary venous return, Tetralogy of Fallot, Patent duct... ORPHA:2184
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... OMIM:618901
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Transposition of the great arteries, Inguinal hernia, Dry skin, Camptodactyly, Pulmonary artery s... OMIM:280000
Holoprosencephaly
Congenital diaphragmatic hernia, Encephalocele, Branchial anomaly, Abnormal aortic morphology, Om... ORPHA:2162
Codas Syndrome
Atrioventricular canal defect, Polyhydramnios, Omphalocele, Enamel hypoplasia, Atrial septal defe... OMIM:600373
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:617044
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Coarctation of aorta, Patent duc... OMIM:610338
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Hydranencephaly OMIM:601355
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:618330
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Right aortic arch with mirror image branching, Inguinal hernia, ... OMIM:601186
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Stroke, Cardiomyopathy, Arrhythmia, Atrial septal defect, Ventricular sep... OMIM:249270
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Corneal neovascularization, Abnormal aortic arch morphology, Hyperte... ORPHA:567
Auriculocondylar Syndrome 2B
Omphalocele OMIM:620458
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect, Inguinal hernia OMIM:314320
Osteopathia Striata With Cranial Sclerosis
Polyhydramnios, Flexion contracture of toe, Spina bifida occulta, Camptodactyly, Omphalocele, Pat... OMIM:300373
Acute Generalized Exanthematous Pustulosis
Scaling skin, Skin vesicle, Facial edema, Purpura ORPHA:293173
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Abnormal tricuspid valve morphology, Hydrops fetalis, Abnormal aortic morphology,... ORPHA:3405
Ehlers-Danlos Syndrome, Classic Type, 1
Inguinal hernia, Aortic root aneurysm, Cigarette-paper scars, Fragile skin, Mitral valve prolapse... OMIM:130000
Marshall-Smith Syndrome
Hypertension, Dysplastic aortic valve, Omphalocele, Umbilical hernia, Pulmonary arterial hyperten... OMIM:602535
Essential Thrombocythemia
Abnormal bleeding, Transient ischemic attack, Bruising susceptibility, Abnormal cerebral vascular... ORPHA:3318
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Omphalocele ORPHA:95706
Beta-Ketothiolase Deficiency
Hypertension, Dehydration, Hypotension, Edema, Pallor ORPHA:134
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect, Keloids ORPHA:357225
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, Inguinal hernia ORPHA:3369
Hereditary Pheochromocytoma-Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:29072
Hermansky-Pudlak Syndrome 3
Bruising susceptibility, Spontaneous, recurrent epistaxis, Abnormal bleeding, Gingival bleeding OMIM:614072
Rin2 Syndrome
Aortic aneurysm, Redundant skin, Umbilical hernia, Bruising susceptibility, Upper eyelid edema ORPHA:217335
3-Hydroxy-3-Methylglutaric Aciduria
Prolonged prothrombin tim