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Gene: Aip MGI:109622

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Prolactinoma
Hypotension, Pallor ORPHA:2965
Pituitary Adenoma 1, Multiple Types
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... OMIM:102200
Pituitary Gigantism
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth... ORPHA:99725
Acromegaly
Hypertrophic cardiomyopathy, Joint swelling, Mitral regurgitation, Palpebral edema, Hypertension ORPHA:963

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
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abnormality of connective tissue, Cutis marmorata, Abdominal aortic aneurys... ORPHA:91387
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Cutaneous Collagenous Vasculopathy
Erythema, Bruising susceptibility, Vascular skin abnormality, Petechiae, Diffuse telangiectasia, ... ORPHA:280779
Bleeding Disorder, Platelet-Type, 8
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Persistent bleeding after trau... OMIM:609821
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Atypical scarring of skin, Bruising susceptibility, Striae distensae, Petechiae, Mitral valve pro... OMIM:225310
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Factor Xiii, B Subunit, Deficiency Of
Abnormal bleeding, Bruising susceptibility, Ecchymosis, Abnormal umbilical stump bleeding, Prolon... OMIM:613235
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub... ORPHA:853
Evans Syndrome
Epistaxis, Bruising susceptibility, Pallor, Petechiae, Syncope, Jaundice ORPHA:1959
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... OMIM:613225
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Pallor, Abnormality of venous physio... ORPHA:90064
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Warfarin-induced skin necrosis, Pulmonary embolism OMIM:612336
Hemophilia A
Gingival bleeding, Epistaxis, Bruising susceptibility, Petechiae, Muscle hemorrhage, Persistent b... OMIM:306700
Congenital Factor Xiii Deficiency
Gingival bleeding, Epistaxis, Delayed onset bleeding, Poor wound healing, Prolonged bleeding foll... ORPHA:331
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Gastrointestinal angiodysplasia,... ORPHA:903
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Lymphedema, Oligohydramnios, Ventricular septal defect, Overriding aorta, Atrial ... OMIM:601927
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... ORPHA:1686
Immune Dysregulation, Autoimmunity, And Autoinflammation
Gingival bleeding, Epistaxis, Petechiae, Ecchymosis OMIM:620514
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Bruising susceptibility, Ecchymosis, Prolonged bleeding time, Menorrhagia OMIM:614201
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... ORPHA:1330
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Portal Hypertension, Noncirrhotic, 2
Epistaxis, Ascites, Portal hypertension, Petechiae, Ecchymosis OMIM:619463
Cutaneous Small Vessel Vasculitis
Vasculitis, Erythema, Cutis marmorata, Purpura, Urticaria ORPHA:889
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Bruising susceptibility, Ecchymosis OMIM:614009
Thrombocytopenia 5
Epistaxis, Petechiae, Bruising susceptibility OMIM:616216
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Erythema, Abnormal bleeding, Angioe... ORPHA:449285
Dengue Fever
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ... ORPHA:99828
Orthostatic Hypotensive Disorder, Streeten Type
Facial erythema, Syncope, Orthostatic hypotension, Bruising susceptibility OMIM:143850
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Skin ulcer, Abnormal cerebral vascular morphology, Subcutaneous hemorrhage, V... ORPHA:743
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... OMIM:615779
Complement Component 4A Deficiency
Vasculitis, Cutaneous photosensitivity, Purpura OMIM:614380
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia OMIM:201910
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Petechiae, Prolonged bleeding time, Bruising susceptibility OMIM:314050
Congenital Sialidosis Type 2
Cherry red spot of the macula, Abnormal heart morphology, Abnormal EKG, Umbilical hernia, Ascites... ORPHA:93400
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Ascites, Pleural effusion, Bradycardia, Petechiae, Cerebral hemorr... OMIM:617397
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Pallor, Ventricular septal defect, Paroxysmal atrial tachycardia, Strok... ORPHA:49827
Bernard-Soulier Syndrome
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Spont... ORPHA:274
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism, Abnormal cerebral vascular morphology, Venous insufficiency, Warfarin-induced... ORPHA:745
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Purpura, Petechiae, Vasculitis in the skin OMIM:620296
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia OMIM:202110
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Ovarian Hyperstimulation Syndrome
Generalized edema, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema, Capillary leak, ... ORPHA:64739
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding ... OMIM:231200
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... ORPHA:3453
Familial Hyperaldosteronism Type Ii
Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, Glucocortocoid... ORPHA:404
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Familial Hyperaldosteronism Type I
Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldosteronism, Secretory adre... ORPHA:403
Hemophilia B
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... OMIM:306900
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Persistent bleeding after trauma, Petechiae, Bruising susceptibility OMIM:300367
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Prolonged ble... OMIM:187900
Fetal Encasement Syndrome
Tetralogy of Fallot, Congenital diaphragmatic hernia, Omphalocele OMIM:613630
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, He... ORPHA:185
Cryoglobulinemic Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Skin ulcer, Cutis marmorata, Petechiae, Purpura ORPHA:91138
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus ORPHA:1208
Acquired Purpura Fulminans
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Pyoderma gangrenosum, In... ORPHA:49566
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Ped... ORPHA:2299
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Roch-Leri Mesosomatous Lipomatosis
Multiple lipomas, Purpura ORPHA:529
Primary Myelofibrosis
Abnormal bleeding, Portal hypertension, Pallor, Petechiae, Ecchymosis, Purpura ORPHA:824
Hypothyroidism, Congenital, Nongoitrous, 4
Dry skin, Omphalocele, Umbilical hernia OMIM:275100
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Drug-Induced Lupus Erythematosus
Pericardial effusion, Prolonged QTc interval, Petechiae, Pericarditis ORPHA:231111
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Abnormal heart morphology, Large placenta, Diastasis recti, Ventricular septal ... ORPHA:254534
Adams-Oliver Syndrome 4
Umbilical hernia, Cutis marmorata, Ventricular septal defect, Atrial septal defect, Patent ductus... OMIM:615297
Acute Promyelocytic Leukemia
Gingival bleeding, Epistaxis, Diffuse alveolar hemorrhage, Abnormal bleeding, Bruising susceptibi... ORPHA:520
Tricuspid Atresia
Hypoplasia of right ventricle, Cyanosis, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Omphalocele
Omphalocele ORPHA:660
Thrombocytopenia 10
Abnormal bleeding, Bruising susceptibility, Petechiae, Spontaneous, recurrent epistaxis, Menorrhagia OMIM:620484
Pseudo-Torch Syndrome 1
Umbilical hernia, Petechiae, Patent foramen ovale, Jaundice, Patent ductus arteriosus OMIM:251290
Microvillus Inclusion Disease
Dehydration, Hypovolemia ORPHA:2290
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS complex, Ischemic stro... ORPHA:90068
Genitopalatocardiac Syndrome
Transposition of the great arteries, Right aortic arch, Double outlet right ventricle, Ventricula... OMIM:231060
Colchicine Poisoning
Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Dehydration, H... ORPHA:31824
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Oligohydramnios, Pallor, Polyhydramnios, Hydrops fetalis, Pericarditis ORPHA:163596
Sea-Blue Histiocytosis
Abnormal bleeding, Petechiae, Edema ORPHA:158029
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Gingival bleeding, Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:153670
Meningococcal Meningitis
Hypotension, Shock, Petechiae, Stroke, Purpura ORPHA:33475
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Iga Nephropathy, Susceptibility To, 1
Purpura, Hypertension OMIM:161950
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Ehlers-Danlos Syndrome, Periodontal Type, 2
Gingival bleeding, Atypical scarring of skin, Bruising susceptibility, Umbilical hernia, Inguinal... OMIM:617174
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level OMIM:613677
Tufted Angioma
Purpura, Petechiae ORPHA:1063
Aicardi-Goutieres Syndrome 1
Vasculitis, Erythema, Cardiomyopathy, Petechiae, Prolonged neonatal jaundice, Acrocyanosis, Purpura OMIM:225750
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Petechiae OMIM:187800
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Polyhydramnios, Hypovolemia ORPHA:223
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Diabetes mellitus, Adrenal hyperp... OMIM:615830
Epidermolysis Bullosa Simplex 5A, Ogna Type
Bruising susceptibility, Skin fragility with non-scarring blistering OMIM:131950
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... OMIM:618845
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Abnormal bleeding, Petechiae OMIM:612840
Livedoid Vasculopathy
Poor wound healing, Skin ulcer, Macular purpura, Atrophic scars, Cutis marmorata, Ischemic stroke... ORPHA:542643
Atrial Septal Defect 2
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... OMIM:607941
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... OMIM:277450
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... OMIM:618316
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Abnormal bleeding, Dehydration, Bruising susceptibility,... ORPHA:99826
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Recombinant Chromosome 8 Syndrome
Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Double outlet righ... OMIM:179613
Double Outlet Right Ventricle
Hypoplastic left heart, Pulmonary artery atresia, Tetralogy of Fallot, Heart murmur, Cyanosis, Ve... ORPHA:3426
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Kagami-Ogata Syndrome
Diastasis recti, Inguinal hernia, Ventricular septal defect, Pulmonary arterial hypertension, Atr... OMIM:608149
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... OMIM:615954
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Gaisböck Syndrome
Elevated diastolic blood pressure, Coronary artery atherosclerosis, Stroke, Angina pectoris, Plet... ORPHA:90041
Cranioacrofacial Syndrome
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Sepsis In Premature Infants
Hypotension, Abnormal bleeding, Pallor, Petechiae, Cyanosis, Jaundice, Bradycardia, Tachycardia, ... ORPHA:90051
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Donnai-Barrow Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Omphalocele, Ventricular septal defect ORPHA:2143
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Left superior ve... OMIM:306955
Prolidase Deficiency
Prolonged neonatal jaundice, Diffuse telangiectasia, Petechiae, Skin ulcer OMIM:170100
Boutonneuse Fever
Vasculitis, Petechiae ORPHA:83313
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Complement Component 2 Deficiency
Purpura OMIM:217000
Hypothyroidism, Congenital, Nongoitrous, 6
Dry skin, Omphalocele OMIM:614450
Primary Release Disorder Of Platelets
Abnormal bleeding, Bruising susceptibility, Menorrhagia, Spontaneous, recurrent epistaxis OMIM:176630
Acute Adrenal Insufficiency
Hypotension, Dry skin, Stroke, Orthostatic hypotension, Myocardial infarction, Hypovolemia ORPHA:95409
Peripheral Cone Dystrophy
Pallor OMIM:609021
Familial Hyperaldosteronism Type Iii
Abnormal circulating renin, Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:251274
Lysosomal Acid Lipase Deficiency
Hypotension, Ascites, Coronary artery atherosclerosis, Stroke, Jaundice, Pulmonary arterial hyper... ORPHA:275761
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Autoimmune Lymphoproliferative Syndrome, Type Iia
Vasculitis, Gastrointestinal hemorrhage, Petechiae, Urticaria OMIM:603909
Miller-Dieker Syndrome
Polyhydramnios, Omphalocele ORPHA:531
Gaucher Disease, Perinatal Lethal
Ascites, Petechiae, Nonimmune hydrops fetalis, Cardiomegaly, Neonatal death, Purpura, Polyhydramn... OMIM:608013
Hemochromatosis, Type 3
Purpura, Cardiomyopathy OMIM:604250
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Rheumatic Fever
Epistaxis, Erythema, Abnormal heart valve morphology, Pallor, Abnormal mitral valve morphology, A... ORPHA:3099
Wiskott-Aldrich Syndrome
Gingival bleeding, Vasculitis, Hematochezia, Epistaxis, Skin ulcer, Spontaneous hematomas, Recurr... ORPHA:906
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Ventricular septal defect ORPHA:93267
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension, Hypovolemia ORPHA:427
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Umbilical hernia, Abnormal heart morphology, Inguinal hernia, Camp... OMIM:175700
Isolated Permanent Neonatal Diabetes Mellitus
Abnormal heart morphology, Lower-limb joint contracture, Arthrogryposis multiplex congenita, Dehy... ORPHA:99885
Hatipoglu Immunodeficiency Syndrome
Poor wound healing, Premature graying of hair, Dry skin, Petechiae, Inguinal hernia OMIM:620331
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus OMIM:614432
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia ORPHA:276556
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele OMIM:258320
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... ORPHA:90793
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Griscelli Syndrome Type 2
Jaundice, Petechiae, Premature graying of hair ORPHA:79477
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Omphalocele, Ventricular septal defect OMIM:601357
Pituitary Adenoma 4, Acth-Secreting
Poor wound healing, Bruising susceptibility, Striae distensae, Ecchymosis, Purpura, Facial erythe... OMIM:219090
Waldenström Macroglobulinemia
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Congest... ORPHA:33226
Thrombocytopenia 3
Epistaxis, Petechiae OMIM:273900
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Cyanosis, Persistent left superior vena cava, Overriding aorta, Double outle... ORPHA:3304
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Boomerang Dysplasia
Polyhydramnios, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, Omphalocele ORPHA:1263
Fetal Cytomegalovirus Syndrome
Retinal hemorrhage, Jaundice, Petechiae ORPHA:294
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Bruising susceptibility, Petechiae, Ecchymosis, Purpura, Prolonged bleeding time OMIM:601399
Ehlers-Danlos Syndrome, Classic Type, 2
Cigarette-paper scars, Bruising susceptibility, Atrophic scars, Hernia, Fragile skin OMIM:130010
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia ORPHA:276575
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, ... ORPHA:371428
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Pallor OMIM:613561
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... ORPHA:231580
Congenital Gerbode Defect
Holosystolic murmur, Ventricular septal defect, Elevated jugular venous pressure, Right atrial en... ORPHA:99095
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:249670
Breath-Holding Spells
Pallor, Cyanosis OMIM:607578
Eng-Strom Syndrome
Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Poor wound healing, Bruising susceptibility, Arterial rupture, Inguinal hernia, Atrial septal def... OMIM:619115
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia ORPHA:276580
Bleeding Disorder In Hemophilia A Carriers
Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, Prolonged bleeding ... ORPHA:177926
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Pulmonary... OMIM:265380
Fetal Valproate Spectrum Disorder
Omphalocele ORPHA:1906
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Familial Hemophagocytic Lymphohistiocytosis
Bruising susceptibility, Petechiae, Ecchymosis, Jaundice, Purpura ORPHA:540
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... OMIM:220210
Anti-Glomerular Basement Membrane Disease
Vasculitis, Purpura ORPHA:375
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Epistaxis, Bruising susceptibility, Cardiomyopathy, Ecchymosis, ... OMIM:203300
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Thrombocytopenia 1
Epistaxis, Joint hemorrhage, Petechiae, Bruising susceptibility OMIM:313900
Rhabdoid Tumor Predisposition Syndrome 1
Choroid plexus carcinoma, Medulloblastoma OMIM:609322
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Abnormal circulating androgen level, Increased circulating ... ORPHA:90790
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Ventricular septal defect, Atrial... ORPHA:99050
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Congenital Syphilis
Large placenta, Palmoplantar scaling skin, Petechiae, Prolonged neonatal jaundice, Myocarditis, H... ORPHA:499009
American Trypanosomiasis
Periorbital edema, Cardiomyopathy, Congestive heart failure, Pallor, Arrhythmia, Myocarditis, Edema ORPHA:3386
Autoerythrocyte Sensitization Syndrome
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Menorrhagia, Intracranial hemorr... ORPHA:324636
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Pleural effusion, Petech... ORPHA:340
Fucosidosis
Bruising susceptibility, Cherry red spot of the macula, Dry skin, Angiokeratoma, Petechiae, Cardi... OMIM:230000
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Kanzaki Disease
Lymphedema, Dry skin, Petechiae, Lacunar stroke, Telangiectasia of the oral mucosa, Angiokeratoma... OMIM:609242
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Purpura, Petechiae OMIM:605432
Acalvaria
Spina bifida, Omphalocele ORPHA:945
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Omphalocele ORPHA:2141
Glioma Susceptibility 3
T-cell acute lymphoblastic leukemias, B Acute Lymphoblastic Leukemia, Medulloblastoma, Nephroblas... OMIM:613029
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal heart morphology, Oligohydramnios, Congenital diaphragmatic hernia, Omphalocele, Polyhyd... OMIM:263210
Grange Syndrome
Aortic regurgitation, Arterial stenosis, Ventricular septal defect, Hypertension, Patent ductus a... ORPHA:79094
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:94080
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ... OMIM:619657
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... ORPHA:1457
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Gastrointestinal hemorrhage, Erythema, Purpura, Acrocyanosis, Urticaria ORPHA:343
Indomethacin Embryofetopathy
Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis ORPHA:1909
Carpenter Syndrome 1
Joint contracture of the hand, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, ... OMIM:201000
Chromosome 9P Deletion Syndrome
Inguinal hernia, Ventricular septal defect, Perimembranous ventricular septal defect, Atrial sept... OMIM:158170
Trisomy 1Q
Camptodactyly of finger, Increased nuchal translucency, Congenital diaphragmatic hernia, Ventricu... ORPHA:261344
X-Linked Ehlers-Danlos Syndrome
Hernia, Bruising susceptibility, Inguinal hernia, Umbilical hernia ORPHA:75497
Fibrinolytic Defect
Spontaneous hematomas OMIM:134900
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog... ORPHA:183
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Hydrocele testis, Increased serum testosterone level ORPHA:96181
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Abnormal circulating renin, Adrenal hyperplasia ORPHA:369929
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Joint hemorrhage, Abnormal bleeding, Subdural hem... ORPHA:169805
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility OMIM:614200
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Lymphedema, Pallor, Intracranial hemorrhage, Prolonged bleeding time ORPHA:3226
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu... ORPHA:2326
Mirage Syndrome
Petechiae, Intracranial hemorrhage, Patent ductus arteriosus OMIM:617053
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... ORPHA:90791
Osteopetrosis, Autosomal Recessive 4
Petechiae OMIM:611490
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Congestive heart failure, Petechiae, Hypertension, Purpura ORPHA:85450
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Pleuropulmonary Blastoma
Rhabdomyosarcoma, Pleuropulmonary blastoma, Medulloblastoma OMIM:601200
Pheochromocytoma/Paraganglioma Syndrome 7
Pheochromocytoma, Paraganglioma OMIM:618475
Classical Ehlers-Danlos Syndrome
Aortic root aneurysm, Poor wound healing, Mitral regurgitation, Mitral valve prolapse, Fragile sk... ORPHA:287
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Ventral hernia, Transposition of the great arteries, Ectopia cor... OMIM:313850
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal bleeding, Bruising susceptibility, Pleural effusion, Abnormal lymphatic vesse... ORPHA:464329
Immunodeficiency 81
Petechiae OMIM:619374
Chikungunya
Facial edema, Epistaxis, Gingival bleeding, Erythema, Abnormal bleeding, Joint swelling, Petechia... ORPHA:324625
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Poor wound healing, Subdural hemorrhage... ORPHA:169802
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Neuroendocrine neoplasm, Increased circulating cortisol level, Meningioma, Inc... ORPHA:189427
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Pentalogy Of Cantrell
Tetralogy of Fallot, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Encephaloc... ORPHA:1335
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Bruising susceptibility, Atrophic scars, Inguinal hernia, Mitral regurgitat... OMIM:225320
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Pate... OMIM:616276
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Acute Myelomonocytic Leukemia
Abnormal bleeding, Pallor ORPHA:517
Focal Dermal Hypoplasia
Erythema, Camptodactyly of finger, Umbilical hernia, Abnormal dental enamel morphology, Diastasis... ORPHA:2092
Immunoglobulin A Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Erythema, Skin ulcer, Angioedema, Vascular skin abnormal... ORPHA:761
Medulloblastoma
Medulloblastoma OMIM:155255
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia, Varicose veins, Peripheral arterial stenosis, Paten... OMIM:126320
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged... OMIM:193400
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
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
Umbilical hernia, Large placenta, Diastasis recti, Inguinal hernia, Polyhydramnios, Redundant nec... ORPHA:254528
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypotension, Dehydration, Hypovolemia ORPHA:168558
Idiopathic Aplastic Anemia
Retinal hemorrhage, Epistaxis, Gingival bleeding, Ecchymosis ORPHA:88
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Nemaline Myopathy 9
Polyhydramnios, Arthrogryposis multiplex congenita, Ventricular septal defect OMIM:615731
Simple Cryoglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Cold urticaria, Vascular skin abnormality, Congestive he... ORPHA:91139
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypotension, Dehydration, Hypovolemia ORPHA:289548
Lujo Hemorrhagic Fever
Facial edema, Periorbital edema, Hypotension, Generalized edema, Shock, Excessive bleeding after ... ORPHA:319213
Factor Vii Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... 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
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... OMIM:201810
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Prolonged bleedin... OMIM:615888
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus ORPHA:1455
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Tetra... OMIM:208530
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epistaxis, Gastrointestinal hemorrhage, Poor wound healing, Post-partum hemorrhage, Prolonged ble... ORPHA:465
Proximal Renal Tubular Acidosis
Enamel hypomineralization, Subvalvular aortic stenosis, Dehydration, Hypovolemia ORPHA:47159
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Bleeding Disorder, Platelet-Type, 20
Epistaxis, Bruising susceptibility, Menorrhagia OMIM:616913
Von Willebrand Disease, Type 2
Epistaxis, Bruising susceptibility, Menorrhagia OMIM:613554
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s... OMIM:620203
Bleeding Disorder, Platelet-Type, 19
Menorrhagia, Epistaxis, Abnormal bleeding, Spontaneous hematomas OMIM:616176
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Hernia, Persistent fetal ... ORPHA:363705
Optic Atrophy 1
Pallor OMIM:165500
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Joint swelling, Intracranial hemorrhage, Intr... ORPHA:98878
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Precocious puberty in males, Congenital adrenal hyperplasia, Decreased testicular size, Increased... OMIM:202010
Schisis Association
Encephalocele, Congenital diaphragmatic hernia, Spina bifida, Omphalocele, Anencephaly ORPHA:63862
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Palpitations, Pallor ORPHA:324575
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis,... ORPHA:335
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Heart murmur, Diffuse alveolar hemorrhage, Pallor ORPHA:99931
Beta-Thalassemia
Hypertrophic cardiomyopathy, Pallor, Skin ulcer ORPHA:848
Distal Duplication 15Q
Omphalocele, Camptodactyly of finger ORPHA:1707
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Ventricular septal defect, Double outlet right ventricle, Polyhydramnios, Pu... OMIM:301056
Myopathic Ehlers-Danlos Syndrome
Ankle flexion contracture, Joint contracture of the hand, Congenital contracture, Shoulder flexio... ORPHA:536516
Lethal Congenital Contracture Syndrome 10
Oligohydramnios, Ventricular septal defect, Cardiomegaly, Overriding aorta, Omphalocele, Hydrops ... OMIM:617022
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Po... OMIM:132900
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec... OMIM:270100
Bleeding Disorder, Platelet-Type, 22
Subcutaneous hemorrhage, Bleeding with minor or no trauma, Gastrointestinal hemorrhage, Excessive... OMIM:618462
Lambert Syndrome
Jaundice, Branchial anomaly, Inguinal hernia, Ventricular septal defect ORPHA:1296
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Juvenile Nephropathic Cystinosis
Dehydration, Hypovolemia ORPHA:411634
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Ventricular septal defect OMIM:617895
Hemoglobin D Disease
Pallor ORPHA:90039
Bacterial Toxic-Shock Syndrome
Cellulitis, Hypotension, Edema, Fasciitis, Shock, Ecchymosis, Scaling skin, Myocarditis, Tachycar... ORPHA:36234
C Syndrome
Cutis laxa, Patent ductus arteriosus, Omphalocele, Ventricular septal defect OMIM:211750
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Left bundle branch block, Right atri... OMIM:115197
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... OMIM:212093
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... ORPHA:477817
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Redundant... OMIM:618652
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Abnormal cerebral vascular morphology, B... ORPHA:758
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Bruising susceptibility, Mitral valve prolapse, Stroke, Spina bifida... ORPHA:230839
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ventricular septal defect, Enamel hypoplasia, Omphalocele, Polyhydramnios OMIM:243150
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Pallor, Congestive heart failure ORPHA:90037
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Retinal hemorrhage, Tachycardia, Jaundice, Purpura, Diffuse alveolar hemorrhag... ORPHA:99827
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility ORPHA:721
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Atrial septal defect, Omphalocele, Ventricular septal defect OMIM:145420
Trigonocephaly 1
Omphalocele OMIM:190440
Triploidy
Polyhydramnios, Meningocele, Omphalocele, Abnormal cardiac septum morphology ORPHA:3376
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Neonatal death, Congenital diaphragmatic hernia, Ventricular septal defect OMIM:615524
Glanzmann Thrombasthenia 2
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:619267
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Hernia, Arterial rupture, Atrophic scars, Bruising susceptibility ORPHA:300179
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Ventricular septal defect OMIM:614876
Immunodeficiency, Common Variable, 6
Purpura OMIM:613496
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Peripheral pulmonary artery stenosis, Poor wound healing, Progeroid facial ... OMIM:123700
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec... OMIM:619371
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Encephalocele, Ventricular septal defect, Coarctation of ... OMIM:264480
Caudal Duplication
Myelomeningocele, Spina bifida, Omphalocele ORPHA:1756
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Pulmonary artery atresia, Umbilical hernia, Mitral... OMIM:618164
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction OMIM:137560
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Vent... ORPHA:1354
Arterial Tortuosity Syndrome
Aortic valve stenosis, Aortic regurgitation, Ventricular hypertrophy, Aortic root aneurysm, Bruis... OMIM:208050
Familial Multinodular Goiter
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... ORPHA:276399
Short-Rib Thoracic Dysplasia 12
Ascites, Inguinal hernia, Patent foramen ovale, Ventricular septal defect, Neonatal death, Omphal... OMIM:269860
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Omphalocele OMIM:601163
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Donnai-Barrow Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Omphalocele, Ventricular septal defect OMIM:222448
Laubry-Pezzi Syndrome
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Palpitations... ORPHA:99094
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect, Spina bifida, Anencephaly, Gastroschisis ORPHA:2476
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Xerostomia, Joint swelling, Pulmonary arterial hypertension, Myocard... ORPHA:809
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Cutis marmorata, Portal hypertension, Truncus arteriosus, Ventricular se... OMIM:616589
Stormorken-Sjaastad-Langslet Syndrome
Purpura ORPHA:3204
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
Criss-Cross Heart
Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep... ORPHA:1461
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Generalized edema, Tetralogy of Fallot, Right aortic arch, Cyanosis, Ven... OMIM:617478
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Atrial septal defect, Camptodactyly, Arthrogryposis multiplex congenit... OMIM:614262
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... OMIM:601005
Factor V Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... OMIM:227400
Developmental Delay With Or Without Dysmorphic Facies And Autism
Umbilical hernia, Congenital diaphragmatic hernia, Patent foramen ovale, Ventricular septal defec... OMIM:618454
Bilateral Striopallidodentate Calcinosis
Subcutaneous hemorrhage ORPHA:1980
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Cutis Marmorata Telangiectatica Congenita
Arteriovenous malformation, Ascites, Subcutaneous hemorrhage, Arterial stenosis, Cutis marmorata,... 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
Cellulitis, Atypical scarring of skin, Aortic root aneurysm, Poor wound healing, Bruising suscept... OMIM:618000
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Adrenal hyperplasia, Cryptorchidism, Polycystic o... ORPHA:95699
Noonan Syndrome 12
Tetralogy of Fallot, Supravalvular aortic stenosis, Polyhydramnios, Ventricular septal defect OMIM:618624
Wiskott-Aldrich Syndrome
Gingival bleeding, Epistaxis, Large vessel vasculitis, Petechiae, Hematemesis, Melena, Purpura, P... OMIM:301000
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Ventricular septal defect, P... OMIM:615355
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
X-Linked Intellectual Disability, Nascimento Type
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Dry skin, Oligohydramnios, Mitral sten... ORPHA:163956
Fibrochondrogenesis 1
Joint contracture of the hand, Patent foramen ovale, Omphalocele, Stillbirth, Camptodactyly, Hydr... OMIM:228520
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Mosaic Trisomy 1
Camptodactyly of finger, Elbow flexion contracture, Increased nuchal translucency, Congenital dia... ORPHA:1692
Catel-Manzke Syndrome
Atrial septal defect, Camptodactyly of finger, Ventricular septal defect ORPHA:1388
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abnormal inferior... ORPHA:244
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Bruising susceptibility, Umbilical hernia, Tricuspid regurgitation, Atrophi... OMIM:601776
Cushing Disease
Poor wound healing, Skin ulcer, Bruising susceptibility, Striae distensae, Flushing, Capillary fr... ORPHA:96253
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Ventricular septal defect, Atrial septal defect, Tachyca... OMIM:613870
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Kcnq2-Related Epileptic Encephalopathy
Cerebral edema, Facial erythema, Pallor ORPHA:439218
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Omphalocele, Camptodact... OMIM:616894
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
3Mc Syndrome 1
Diastasis recti, Ventricular septal defect, Conjunctival telangiectasia, Abnormality of the abdom... OMIM:257920
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Pulmonary edema, Atrial septal defect, Tachycardia, Patent d... ORPHA:980
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Situs inversu... OMIM:605376
Giant Cell Arteritis
Vasculitis, Epistaxis, Aortic dissection, Double outlet right ventricle with subpulmonary ventric... ORPHA:397
Chronic Intestinal Pseudoobstruction
Patent ductus arteriosus ORPHA:2978
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Situs inversus totalis, Abnormal aortic morp... ORPHA:991
Meacham Syndrome
Hypoplastic left heart, Aplasia of the right hemidiaphragm, Tetralogy of Fallot, Scimitar anomaly... OMIM:608978
Fryns Syndrome
Abnormal aortic arch morphology, Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormal a... ORPHA:2059
Bleeding Disorder, Platelet-Type, 25
Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta... OMIM:620486
Myelofibrosis
Purpura, Pallor OMIM:254450
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Cigarette-paper scars, Bruising susceptibility, Dilatation of the ce... OMIM:130050
Opitz Gbbb Syndrome
Aortic root aneurysm, Umbilical hernia, Abnormal heart morphology, Congenital diaphragmatic herni... ORPHA:2745
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Hypotension, Dehydration, Hypovolemia ORPHA:90794
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral regurgitation, Mitral valve prolapse, Ventri... OMIM:612561
Robinow Syndrome, Autosomal Recessive 2
Camptodactyly, Bicuspid aortic valve, Omphalocele, Ventral hernia OMIM:618529
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Jaundice, Pallor, Congestive heart failure ORPHA:90033
Ehlers-Danlos Syndrome, Classic-Like, 1
Poor wound healing, Bruising susceptibility, Atrophic scars, Striae distensae, Quadricuspid aorti... OMIM:606408
Scorpion Envenomation
Erythema, Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Car... ORPHA:466677
Chromosome 10Q26 Deletion Syndrome
Patent ductus arteriosus, Atrial septal defect, Omphalocele OMIM:609625
Q Fever
Vasculitis, Abnormal vascular morphology, Abnormal heart valve morphology, Pleural effusion, Purp... ORPHA:781
Vacterl/Vater Association
Occipital encephalocele, Congenital diaphragmatic hernia, Omphalocele, Abnormal cardiac septum mo... ORPHA:887
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:276621
Kasabach-Merritt Phenomenon
Prolonged prothrombin time, Purpura, Petechiae, Abnormal lymphatic vessel morphology ORPHA:2330
Cinca Syndrome
Purpura, Edema, Urticaria ORPHA:1451
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Isolated Anencephaly
Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Prune belly, Omphalocele OMIM:601389
Esophageal Atresia
Tetralogy of Fallot, Pallor, Cyanosis, Ventricular septal defect, Coarctation of aorta, Omphaloce... ORPHA:1199
Fanconi Anemia, Complementation Group I
Pallor, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:609053
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Double Outlet Left Ventricle
Cyanosis, Abnormal right ventricular function, Cardiomegaly, Pulmonary artery stenosis, Ventricul... ORPHA:3427
Varicose Veins
Varicose veins OMIM:192200
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... OMIM:615067
Congenital Dyserythropoietic Anemia Type Iii
Gingival bleeding, Pallor, Melena, Oral cavity bleeding, Post-partum hemorrhage ORPHA:98870
Von Willebrand Disease, Type 3
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... OMIM:277480
Maternal Phenylketonuria
Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect... ORPHA:2209
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Retinitis Pigmentosa 51
Pallor OMIM:613464
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Pallor, Congestive heart failure ORPHA:75564
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Vasculitis, Dilated cardiomyopathy, Skin ulcer, Cutis marmorata, Portal hypertension, Livedo race... OMIM:615688
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Pallor OMIM:615631
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Abdominal aortic aneurysm, Congenital diaphragmatic hernia, Bicuspid aor... OMIM:619656
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade... ORPHA:447877
Specc1L-Related Hypertelorism Syndrome
Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Atrial septal defec... ORPHA:1519
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect OMIM:614886
Slc35A1-Cdg
Cellulitis, Abnormal bleeding, Subcutaneous hemorrhage, Pulmonary hemorrhage, Prolonged bleeding ... ORPHA:238459
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Polyhydramnios, Neoplasm of the heart, Omphalocele, Umbilical hernia ORPHA:2241
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Arterial rupture, Dermal translucency, Poor wound healing, Bruising susceptibility OMIM:619120
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Abnormal bleeding, Bruising susceptibility, Myocardial infarction, Prolonged bleeding ... OMIM:155100
Bladder Exstrophy
Inguinal hernia, Bladder exstrophy, Omphalocele, Umbilical hernia ORPHA:93930
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Pal... ORPHA:2847
Melnick-Needles Syndrome
Omphalocele, Abnormal cardiac septum morphology ORPHA:2484
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Aortic root aneurysm, Double outlet right ventricle, Ventricular septal de... OMIM:616652
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect 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
Tricuspid regurgitation, Abnormal heart morphology, Oligohydramnios, Abnormal renal artery morpho... ORPHA:79328
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormal aortic morphology, Ventricular sep... ORPHA:1166
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Erythema, Skin ulcer, Congestive heart failur... ORPHA:727
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Increased circulating cortiso... ORPHA:99889
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Partial atrioventricular canal defect, Ventricular septal defect, Atrial ... OMIM:615996
Cutis Laxa, Autosomal Recessive, Type Ia
Aortic regurgitation, Peripheral pulmonary artery stenosis, Poor wound healing, Vascular tortuosi... OMIM:219100
Meckel Syndrome, Type 2
Meningocele, Anencephaly, Encephalocele, Omphalocele OMIM:603194
Down Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten... OMIM:190685
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Bruising susceptibility, Joint hemorrhage, Menorrhagia OMIM:605735
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Second degree atrioventricular block, Ascites, Oligohydramnios, Ventricular septal defect, Nonimm... OMIM:617021
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Constricting Bands, Congenital
Encephalocele, Omphalocele, Ectopia cordis, Bladder exstrophy, Gastroschisis OMIM:217100
Axial Mesodermal Dysplasia Spectrum
Oligohydramnios, Congenital diaphragmatic hernia, Omphalocele ORPHA:1834
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Leishmaniasis
Abnormal bleeding, Pallor, Skin ulcer ORPHA:507
Trisomy 18
Camptodactyly of finger, Oligohydramnios, Congenital diaphragmatic hernia, Ventricular septal def... ORPHA:3380
Attenuated Chédiak-Higashi Syndrome
Gingival bleeding, Epistaxis, Skin ulcer, Bruising susceptibility ORPHA:352723
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Paroxysmal atrial fibrillation, Atrioventricular ... ORPHA:392
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Congenital diaphragmatic... ORPHA:63260
Refractory Anemia With Excess Blasts
Abnormal bleeding, Palpitations, Anemic pallor, Retinal hemorrhage, Pedal edema ORPHA:86839
Hadziselimovic Syndrome
Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pu... OMIM:612946
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Abnormal heart morphology, Polyhydramnios, Inguinal hernia, Abnorm... OMIM:247200
Weill-Marchesani Syndrome
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Patent ductus ... ORPHA:97214
Dravet Syndrome
Pallor, Cyanotic episode ORPHA:33069
Granulomatosis With Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Skin ulcer, Cerebral ischemia, Hypertension, ... ORPHA:900
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Polyhydramnios, Arthrogryposis multiplex conge... 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
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:619189
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Anemic pallor, Abnormal bleeding, Edema ORPHA:329971
Ehlers-Danlos Syndrome, Periodontal Type, 1
Gingival bleeding, Poor wound healing, Bruising susceptibility, Umbilical hernia, Atrophic scars,... OMIM:130080
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong... OMIM:613426
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hernia, Cutis marmorata, Ventricular septal defect OMIM:602501
Wolcott-Rallison Syndrome
Ascites, Double outlet right ventricle, Atrial septal defect, Jaundice, Dehydration ORPHA:1667
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Hernia of the abdominal wall, Patent ductus arteriosus, Anomalous pulmonary ... ORPHA:2184
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric... OMIM:618901
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Peripheral pulmonary artery stenosis, Joint contracture of the hand, Umbilical hernia, Tetralogy ... OMIM:280000
Holoprosencephaly
Spinal dysraphism, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Abnormal aortic morp... ORPHA:2162
Codas Syndrome
Atrioventricular canal defect, Ventricular septal defect, Enamel hypoplasia, Atrial septal defect... OMIM:600373
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of right pulmonary artery from a... OMIM:610338
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Hydranencephaly, Ventricular septal defect OMIM:601355
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:618330
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Tetralogy of Fallot, Cong... OMIM:601186
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Stroke, Arrhythmia, Atrial sep... OMIM:249270
22Q11.2 Deletion Syndrome
Ventricular septal defect, Atrial septal defect, Purpura, Patent ductus arteriosus, Gastrointesti... ORPHA:567
Auriculocondylar Syndrome 2B
Omphalocele OMIM:620458
Trigonocephaly With Short Stature And Developmental Delay
Inguinal hernia, Ventricular septal defect OMIM:314320
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Oligohydramnios, Polyhydramnios, Ventricular septal defect, Atrial... OMIM:300373
Acute Generalized Exanthematous Pustulosis
Facial edema, Skin vesicle, Purpura, Scaling skin ORPHA:293173
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Polyh... ORPHA:3405
Ehlers-Danlos Syndrome, Classic Type, 1
Cigarette-paper scars, Aortic root aneurysm, Poor wound healing, Umbilical hernia, Bruising susce... OMIM:130000
Marshall-Smith Syndrome
Umbilical hernia, Ventricular septal defect, Premature ventricular contraction, Pulmonary arteria... OMIM:602535
Essential Thrombocythemia
Abnormal bleeding, Abnormal cerebral vascular morphology, Bruising susceptibility, Transient isch... ORPHA:3318
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Omphalocele ORPHA:95706
Beta-Ketothiolase Deficiency
Hypotension, Edema, Pallor, Hypertension, Dehydration ORPHA:134
Primary Non-Essential Cutis Verticis Gyrata
Keloids, Atrial septal defect, Ventricular septal defect ORPHA:357225
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Inguinal hernia, Ventricular septal defect ORPHA:3369
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:29072
Hermansky-Pudlak Syndrome 3
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Spontaneous, recurrent epistaxis OMIM:614072
Rin2 Syndrome
Bruising susceptibility, Umbilical hernia, Upper eyelid edema, Redundant skin, Aortic aneurysm ORPHA:217335
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dilated cardiomyopathy, Edema, Pallor, Jaundice, Prolonged prothrombin time, Cardiac... ORPHA:20
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Situs inv... ORPHA:3097
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Pallor OMIM:613839
Hereditary Spherocytosis
Jaundice, Restrictive cardiomyopathy, Pallor, Skin ulcer ORPHA:822
14Q24.1Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, P... ORPHA:401935
Ogden Syndrome
Cardiogenic shock, Inguinal hernia, Ventricular septal defect, Pulmonary artery stenosis, Arrhyth... ORPHA:276432
Simpson-Golabi-Behmel Syndrome
Cardiomyopathy, Camptodactyly of finger, Bundle branch block, Umbilical hernia, Polyhydramnios, C... ORPHA:373
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Aortic root aneurysm, Poor wound healing, Bruising susceptibility, Tricuspi... ORPHA:230851
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... ORPHA:1913
Shigellosis
Hypovolemic shock, Myocarditis, Purpura, Dehydration, Urticaria ORPHA:810
Hermansky-Pudlak Syndrome 7
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... OMIM:614076
Irida Syndrome
Pallor ORPHA:209981
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Angioedema, Congestive heart failure, Transient ische... ORPHA:3260
Tay-Sachs Disease
Pallor, Cherry red spot of the macula OMIM:272800
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Umbilical... OMIM:600001
Cone-Rod Dystrophy 8
Retinal arteriolar constriction, Pallor OMIM:605549
Quebec Platelet Disorder
Epistaxis, Joint hemorrhage, Bruising susceptibility, Menorrhagia OMIM:601709
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hydromyelia, Umbilical hernia, Dry skin, Oligohydramnios, Inguinal hernia, Corneal neovasculariza... OMIM:308205
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Atypical scarring of skin, Widened atrophic scar, Poor wound healing, Abnorm... ORPHA:1900
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Joint hemorrhage, Hemothorax, Bruising susceptibility OMIM:262850
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Bacterial endocarditis, Poor wound healing, Skin ulcer, Calcification... ORPHA:2072
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... ORPHA:284169
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... ORPHA:2306
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:618974
Developmental And Epileptic Encephalopathy 89
Flexion contracture, Omphalocele, Neonatal death OMIM:619124
Kawasaki Disease
Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul... ORPHA:2331
Lymphedema-Distichiasis Syndrome
Cellulitis, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Tetralogy of Fallot, Ve... OMIM:153400
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Abnormal heart valve morphology, Myelomeningocele, Encephalocele, Omphal... ORPHA:90652
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Mitral valve prolapse, V... OMIM:619472
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Pallor, Nonimmune hydrops fetalis OMIM:266200
Chromosome 5Q12 Deletion Syndrome
Hypotension, Increased nuchal translucency, Patent foramen ovale, Ventricular septal defect, Atri... OMIM:615668
Holoprosencephaly-Postaxial Polydactyly Syndrome
Umbilical hernia, Encephalocele, Omphalocele, Abnormal cardiac septum morphology, Polyhydramnios ORPHA:2166
Kagami-Ogata Syndrome
Large placenta, Diastasis recti, Inguinal hernia, Omphalocele, Polyhydramnios ORPHA:254519
Hermansky-Pudlak Syndrome 6
Epistaxis, Bruising susceptibility, Prolonged bleeding time, Ecchymosis OMIM:614075
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Skin ulcer, Pallor, High-output congestive heart failure, Arrhythmia, Jau... ORPHA:231226
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Umbilical hernia, Hypertrophic cardiomyopathy, Cutis marmorata, Ventricular septal defect, Patent... OMIM:612938
Atelis Syndrome 1
Dry skin, Atrial septal defect, Ventricular septal defect OMIM:620184
Polysyndactyly With Cardiac Malformation
Polyhydramnios, Stillbirth, Atrial septal defect, Ventricular septal defect OMIM:263630
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal aortic arch morphology, Spinal dysraphism, Interphalangeal joint contracture of finger, ... ORPHA:96334
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Patent ductus arteriosus, Omphalocele, Stillbirth OMIM:616300
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Pallor ORPHA:263455
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Fryns Syndrome
Joint contracture of the hand, Chylothorax, Polyhydramnios, Ventricular septal defect, Atrial sep... OMIM:229850
Agel Amyloidosis
Xerostomia, Bruising susceptibility, Cardiomyopathy, Dry skin, Blepharochalasis, Dermatological m... ORPHA:85448
Cutis Laxa, Autosomal Recessive, Type Iib
Bruising susceptibility, Vascular tortuosity, Redundant skin, Inguinal hernia, Excessive wrinkled... OMIM:612940
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept... OMIM:620609
Relapsing Polychondritis
Erythema, Large vessel vasculitis, Abnormal aortic valve morphology, Abnormal endocardium morphol... ORPHA:728
Fumarase Deficiency
Ascites, Pallor, Reduced subcutaneous adipose tissue, Perimembranous ventricular septal defect, P... OMIM:606812
Melnick-Needles Syndrome
Mitral valve prolapse, Tricuspid valve prolapse, Pulmonary arterial hypertension, Omphalocele, St... OMIM:309350
Von Hippel-Lindau Disease
Macular edema, Cardiomyopathy, Palpitations, Pallor, Stroke, Arrhythmia, Myocarditis, Abnormal le... ORPHA:892
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:210122
Frank-Ter Haar Syndrome
Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o... OMIM:249420
Diabetic Embryopathy
Spinal dysraphism, Tetralogy of Fallot, Abnormal aortic morphology, Ventricular septal defect, Ap... ORPHA:1926
Bartsocas-Papas Syndrome 1
Dry skin, Inguinal hernia, Patent foramen ovale, Omphalocele, Inferiorly positioned umbilicus, Fl... OMIM:263650
Okamoto Syndrome
Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Oligohydram... ORPHA:2729
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Ventricular septal defect OMIM:613730
Senior-Loken Syndrome 8
Pallor, Vascular dilatation OMIM:616307
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Redundant neck skin, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal de... ORPHA:2519
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 3rd finger, Double outlet right ventricl... OMIM:618223
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Umbilical hernia, Ventricular septal defect, Hiatus hernia, Atrial septal defect, Patent ductus a... OMIM:619769
Al Amyloidosis
Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Xerostomia, Postural hypotens... ORPHA:85443
Beta-Thalassemia Intermedia
Skin ulcer, Pallor, High-output congestive heart failure, Pulmonary arterial hypertension, Jaundice ORPHA:231222
Otopalatodigital Syndrome, Type I
Omphalocele OMIM:311300
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Erythema, Dry skin, Reduced subcutaneous adipose tissue, Hip contracture, Ventricular septal defe... OMIM:619503
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Umbilical hernia, Inguinal hernia, Patent foramen ovale, Ventricular septal defect, Bicuspid aort... ORPHA:329224
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Poor wound healing, Contracture of the proximal interphalangeal joint of the 2nd finger, Bruising... OMIM:130060
Cold Agglutinin Disease
Pallor ORPHA:56425
Ablepharon Macrostomia Syndrome
Umbilical hernia, Camptodactyly of finger, Dry skin, Redundant skin, Excessive wrinkled skin, Omp... ORPHA:920
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Umbilical hernia, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bic... ORPHA:500159
Loeys-Dietz Syndrome 4
Aortic root aneurysm, Aortic dissection, Bruising susceptibility, Arterial tortuosity, Dilatation... OMIM:614816
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele ORPHA:3035
Prune Belly Syndrome
Tetralogy of Fallot, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Aplasia of... ORPHA:2970
Myoectodermal Gonadal Dysgenesis Syndrome
Dry skin, Scaling skin, Diastasis recti, Omphalocele OMIM:618419
Iniencephaly
Spinal dysraphism, Myelomeningocele, Encephalocele, Congenital diaphragmatic hernia, Anencephaly,... ORPHA:63259
Autoinflammatory Disease, Systemic, With Vasculitis
Erythema, Urticaria, Cardiomegaly, Small vessel vasculitis, Periorbital edema, Jaundice, Hydrops ... OMIM:620376
Serkal Syndrome
Oligohydramnios, Congenital diaphragmatic hernia, Pulmonic stenosis, Ventricular septal defect ORPHA:139466
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:615279
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Abnormal T-wave, Flushing, Pallor, Cardiac conduction abnormality, Arrhythmia, De... ORPHA:2131
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Postinfectious Vasculitis
Bacterial endocarditis, Palpable purpura, Cardiomyopathy, Cerebral vasculitis, Cutis marmorata, I... ORPHA:48435
Transaldolase Deficiency
Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Telangiectasia, Coarctation of ... OMIM:606003
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect ORPHA:2516
Myh9-Related Disease
Bruising susceptibility, Spontaneous, recurrent epistaxis, Myocardial infarction, Prolonged bleed... ORPHA:182050
Tatton-Brown-Rahman Syndrome
Umbilical hernia, Tricuspid regurgitation, Mitral regurgitation, Ventricular septal defect, Atria... OMIM:615879
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Gingival bleeding, Poor wound healing, Bruising susceptibility, Umbilical hernia, Atrophic scars,... OMIM:225410
Retinitis Pigmentosa 75
Pallor OMIM:617023
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Increased nuchal translucency, Pleural effusion, Mitral regurgitatio... OMIM:616564
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Pallor, Syncope, Tachycardia, Flushing, Urticaria ORPHA:98849
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Atrioventricular canal ... ORPHA:251071
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Noonan Syndrome 9
Prolonged prothrombin time, Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect OMIM:616559
Beta-Thalassemia Major
Dilated cardiomyopathy, Skin ulcer, Pallor, High-output congestive heart failure, Arrhythmia, Jau... ORPHA:231214
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Cardiac arrest, Pallor, Dehydration OMIM:246450
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... ORPHA:261183
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Purpura, Hypertension OMIM:235400
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Ventricular septal defect OMIM:209770
Chromosome 6Pter-P24 Deletion Syndrome
Umbilical hernia, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Telangiec... OMIM:612582
Spondyloenchondrodysplasia With Immune Dysregulation
Joint swelling, Purpura, Raynaud phenomenon OMIM:607944
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Prolonged bleeding t... OMIM:618280
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Emanuel Syndrome
Aortic valve stenosis, Oligohydramnios, Congenital diaphragmatic hernia, Inguinal hernia, Ventric... OMIM:609029
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Pulmonary hemorrhage, Subcutaneous hemorrhage OMIM:603585
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Patent ductus arteriosus, Hypoplastic right heart, Atrial septal defect, Ventricular septal defect OMIM:618142
Elliptocytosis 1
Jaundice, Pallor OMIM:611804
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... OMIM:619343
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele ORPHA:3329
Congenital Rubella Syndrome
Jaundice, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect ORPHA:290
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Dry skin, Ventricular septal defect, Enamel hypoplasia, Atrial septal defect, ... OMIM:614576
Emanuel Syndrome
Aortic valve stenosis, Oligohydramnios, Congenital diaphragmatic hernia, Inguinal hernia, Ventric... ORPHA:96170
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Aneurysm-Osteoarthritis Syndrome
Abdominal aortic aneurysm, Mitral regurgitation, Dilatation of the sinus of Valsalva, Patent duct... ORPHA:284984
Beckwith-Wiedemann Syndrome
Umbilical hernia, Hypertrophic cardiomyopathy, Large placenta, Diastasis recti, Congenital diaphr... ORPHA:116
Contractural Arachnodactyly, Congenital
Aortic root aneurysm, Elbow flexion contracture, Mitral regurgitation, Mitral valve prolapse, Ven... OMIM:121050
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Arrhythmia, Transposition of the great arteries, Paroxy... OMIM:617877
Distal Deletion 15Q
Hypoplastic left heart, Abnormal aortic arch morphology, Double outlet right ventricle with doubl... ORPHA:1596
Aregenerative Anemia
Abnormal bleeding, Pallor, Bruising susceptibility ORPHA:101096
Congenital Tracheomalacia
Abnormal pulmonary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Right aorti... ORPHA:95430
Combined Immunodeficiency-Enteropathy Spectrum
Polyhydramnios, Omphalocele, Ventricular septal defect ORPHA:436252
Costello Syndrome
Hypertrophic cardiomyopathy, Abnormal dental enamel morphology, Redundant skin, Mitral valve prol... ORPHA:3071
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Atypical scarring of skin, Aortic dissection, Bruising susceptibility, Atrophic scars, Vascular d... OMIM:618343
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:617751
Menkes Disease
Gastrointestinal hemorrhage, Atypical scarring of skin, Chondrocalcinosis, Spontaneous hematomas,... ORPHA:565
Imerslund-Gräsbeck Syndrome
Abnormal bleeding, Tachycardia, Pallor ORPHA:35858
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
3C Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:7
Noonan Syndrome 4
Abnormal bleeding, Bruising susceptibility, Hypertrophic cardiomyopathy, Ventricular septal defec... OMIM:610733
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Overriding aorta, Omphalocele ORPHA:3186
Hermansky-Pudlak Syndrome 4
Epistaxis, Abnormal bleeding, Bruising susceptibility, Menorrhagia OMIM:614073
Noonan Syndrome 13
Bruising susceptibility, Lymphedema, Dry skin, Mitral regurgitation, Mitral valve prolapse, Atria... OMIM:619087
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, Camp... OMIM:301039
Fibrochondrogenesis
Omphalocele, Camptodactyly of finger ORPHA:2021
Meckel Syndrome, Type 1
Occipital encephalocele, Camptodactyly of finger, Large placenta, Oligohydramnios, Coarctation of... OMIM:249000
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Hernia, Ventricular septal defect ORPHA:3306
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Pallor ORPHA:348
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Aortic rupture, Bruising susceptibility, Umbilical hernia, Tricuspid regurgitation, Atrophic scar... OMIM:614557
Adiposis Dolorosa
Dry skin, Telangiectasia of the skin, Xerostomia, Bruising susceptibility ORPHA:36397
Hepatitis Delta
Jaundice, Abnormal bleeding, Bruising susceptibility ORPHA:402823
Macs Syndrome
Dilation of Virchow-Robin spaces, Bruising susceptibility, Umbilical hernia, Redundant skin, Aort... OMIM:613075
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Descending aortic dissection, Bruising susceptibility, Ascending aortic dissection OMIM:620080
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Congestive heart failure, Dilatation of the ventricular cav... ORPHA:90349
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Abnormal heart morphology, Oligohydramnios, Increased nuchal translucency, Patent foramen ovale, ... OMIM:618494
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Tetralogy of Fallot, Conotruncal defect, Inguinal he... ORPHA:96147
Desbuquois Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Camptodactyly of finger, Ventricular septal... ORPHA:1425
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Patent foramen ovale, Ventricular septal defect, ... ORPHA:26793
De Barsy Syndrome
Progeroid facial appearance, Prominent veins on trunk, Umbilical hernia, Inguinal hernia, Excessi... ORPHA:2962
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Tricuspid regurgitation, Increased nuchal translucency, Patent foramen ovale, Ventricular septal ... OMIM:618870
Cloacal Exstrophy
Myelomeningocele, Cloacal exstrophy, Spina bifida, Omphalocele, Bladder exstrophy ORPHA:93929
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Widened atrophic scar, Aortic root aneurysm, Bruising susceptibility, Prominent veins... ORPHA:536532
Pauci-Immune Glomerulonephritis
Pulmonary hemorrhage, Arteritis, Purpura, Small vessel vasculitis ORPHA:93126
Hereditary Hemorrhagic Telangiectasia
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ... ORPHA:774
Microphthalmia, Syndromic 2
Aortic valve stenosis, Umbilical hernia, Mitral valve prolapse, Ventricular septal defect, Contra... OMIM:300166
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Umbil... ORPHA:2255
Common Variable Immunodeficiency
Vasculitis, Purpura ORPHA:1572
Charge Syndrome
Secundum atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Right aortic arch, Ventricu... OMIM:214800
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Lymphedema, Pancreatic lymphangiectasis, Ascites, Inguinal hernia, Redundant neck skin, Ventricul... OMIM:235255
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ascites, Pleural effusion, Ventricular septal defect, Cardiomegaly, ... OMIM:616897
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Mitral regurgitation, Knee flexion contracture, Ventricular septal defect, Atrial septal defect, ... OMIM:603387
Hydrolethalus Syndrome 1
Complete atrioventricular canal defect, Ventricular septal defect, Omphalocele, Stillbirth, Polyh... OMIM:236680
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Ventricular septal defect, ... ORPHA:1727
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Bruising susceptibility, Mitral regurgitation, Patent foramen ovale, Ventri... OMIM:615582
Polycythemia Vera
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Bruising susceptib... ORPHA:729
Keutel Syndrome
Pulmonary artery stenosis, Pulmonary arterial hypertension, Ventricular septal defect ORPHA:85202
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Neonatal death, Persistent left superior vena cava, Transposition ... OMIM:314390
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... OMIM:615474
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Arthrogryposis-like hand anomaly, Umbilical hernia, Abnormal heart morphology, Patent foramen ova... ORPHA:369891
Warsaw Breakage Syndrome
Tetralogy of Fallot, Cutis marmorata, Ventricular septal defect OMIM:613398
Oculoauriculofrontonasal Syndrome
Encephalocele, Pericallosal lipoma, Ventricular septal defect ORPHA:398156
Cooper-Jabs Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular septal de... ORPHA:1488
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Patent foramen ovale, Ventricular septal defect, Double outlet right vent... OMIM:301043
Myopathy, Mitochondrial, And Ataxia
Multiple lipomas, Pallor OMIM:617675
Burn-Mckeown Syndrome
Inguinal hernia, Atrial septal defect, Ventricular septal defect OMIM:608572
Jansen-De Vries Syndrome
Bicuspid aortic valve, Central diaphragmatic hernia, Ventricular septal defect OMIM:617450
Charge Syndrome
Interrupted aortic arch, Umbilical hernia, Tetralogy of Fallot, Aortic arch aneurysm, Abnormal ao... ORPHA:138
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Coarctation of aorta, Ventricular septal defect OMIM:620210
Meester-Loeys Syndrome
Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Poor wound healing, Umbilical... OMIM:300989
Acrocephalopolydactylous Dysplasia
Ascites, Omphalocele OMIM:200995
Noonan Syndrome 2
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pa... OMIM:605275
Suleiman-El-Hattab Syndrome
Inguinal hernia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618950
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat... OMIM:613795
Letterer-Siwe Disease
Jaundice, Pallor OMIM:246400
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulation, Persistent ... OMIM:618775
Cutis Laxa, Autosomal Recessive, Type Ib
Aortic root aneurysm, Generalized arterial tortuosity, Congenital diaphragmatic hernia, Neonatal ... OMIM:614437
Methimazole Embryofetopathy
Polyhydramnios, Coarctation of aorta, Abnormal aortic morphology, Ventricular septal defect ORPHA:1923
Holt-Oram Syndrome
Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Sinus bradycardia, Ve... OMIM:142900
Primary Sjögren Syndrome
Vasculitis, Arteritis, Xerostomia, Skin ulcer, Dry skin, Cutis marmorata, Raynaud phenomenon, Pur... ORPHA:289390
Bannayan-Riley-Ruvalcaba Syndrome
Arteriovenous malformation, Lymphedema, Subcutaneous hemorrhage, Cutis marmorata, Telangiectasia,... ORPHA:109
Musculocontractural Ehlers-Danlos Syndrome
Abnormal bleeding, Bruising susceptibility, Abnormal heart morphology, Atrophic scars, Abnormal h... ORPHA:2953
Diamond-Blackfan Anemia 1
Congestive heart failure, Pallor, Ventricular septal defect, Coarctation of aorta, Atrial septal ... OMIM:105650
Marfanoid-Progeroid-Lipodystrophy Syndrome
Aortic root aneurysm, Bruising susceptibility, Progeroid facial appearance, Generalized lipodystr... OMIM:616914
Non-Functioning Pituitary Adenoma
Hypotension, Pallor, Increased intraabdominal fat ORPHA:91349
Joubert Syndrome 18
Camptodactyly, Occipital encephalocele, Ventricular septal defect OMIM:614815
Exstrophy-Epispadias Complex
Abdominal wall defect, Abnormal heart morphology, Cystocele, Inguinal hernia, Cloacal exstrophy, ... ORPHA:322
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Pallor, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest OMIM:277400
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Heart murmur, Abnormal vena cava morphology, Inguinal hernia, Ventricular septal defect ORPHA:166035
Fanconi Anemia, Complementation Group C
Flexion contracture, Anemic pallor, Bruising susceptibility, Ventricular septal defect OMIM:227645
Gm1 Gangliosidosis
Cardiomyopathy, Cherry red spot of the macula, Congestive heart failure, Abnormal heart morpholog... ORPHA:354
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Atrial septa... OMIM:208085
Cat Eye Syndrome
Hypoplastic left heart, Total anomalous pulmonary venous return, Umbilical hernia, Tetralogy of F... OMIM:115470
Noonan Syndrome 14
Aortic regurgitation, Bruising susceptibility, Hypertrophic cardiomyopathy, Dry skin, Mitral valv... OMIM:619745
Noonan Syndrome 3
Bruising susceptibility, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal d... OMIM:609942
Tyshchenko Syndrome
Polyhydramnios, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:615102
Sheehan Syndrome
Dry skin, Palpitations, Pallor, Orthostatic hypotension, Bradycardia ORPHA:91355
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2772
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Situs inversus totalis, Encephalocele, Ventricular septal... ORPHA:1908
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding time, Menorrhagia OMIM:139090
Autosomal Recessive Malignant Osteopetrosis
Bruising susceptibility, Abnormal pulmonary valve morphology, Pallor, Pulmonary artery stenosis, ... ORPHA:667
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Inguinal hernia, Atrial septal defect, Ventricular septal defect ORPHA:261190
Ablepharon-Macrostomia Syndrome
Premature skin wrinkling, Dry skin, Redundant skin, Ventral hernia, Omphalocele, Camptodactyly OMIM:200110
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Pituitary Apoplexy
Hypotension, Hypertension, Pallor ORPHA:95613
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defect OMIM:616651
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Joint contracture of the hand, Cigarette-paper scars, Bruising susceptibility, Camptodactyly of f... OMIM:612350
Doors Syndrome
Congenital hypothyroidism, Adrenal hyperplasia, Capillary hemangioma ORPHA:79500
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Erythema, Corneal scarring, Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycard... OMIM:614653
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Absence of the pulmonary valve, Congestive heart failure, Umbilical hernia... OMIM:601808
Childhood Absence Epilepsy
Pallor ORPHA:64280
Degcags Syndrome
Premature graying of hair, Pallor, Patent foramen ovale, Ventricular septal defect, Hiatus hernia... OMIM:619488
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi... OMIM:619910
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Generalized edema, Pallor, Myocarditis, Pleural empyema, Hypertension, Edema ORPHA:544482
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flexion contracture, Bruising susceptibility ORPHA:157965
Incontinentia Pigmenti
Retinal hemorrhage, Erythema, Scarring, Pallor OMIM:308300
Adenohypophysitis
Pallor, Orthostatic hypotension ORPHA:95512
Fanconi Anemia, Complementation Group E
Abnormal heart morphology, Anemic pallor, Bruising susceptibility OMIM:600901
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Pulmonary embolism, Arteriovenous malformation, Subcutaneous hemorrh... ORPHA:394
Beckwith-Wiedemann Syndrome
Cardiomegaly, Diastasis recti, Cardiomyopathy, Omphalocele OMIM:130650
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Prolonged neonatal jaundice, Jaundice, Pallor OMIM:300908
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Periorbital edema, Joint contracture of the hand, Intestinal lymphangiectasia, Umbilical hernia, ... OMIM:235510
Intellectual Developmental Disorder, Autosomal Recessive 71
Prune belly, Ventricular septal defect OMIM:618504
Brittle Cornea Syndrome 2
Bruising susceptibility, Inguinal hernia, Umbilical hernia OMIM:614170
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Ventricular hypertrophy, Aortic root aneurysm, Umbilical hernia, Dry skin, Increased nuchal trans... OMIM:620654
Syndromic Diarrhea
Aortic regurgitation, Peripheral pulmonary artery stenosis, Abnormal heart morphology, Tetralogy ... ORPHA:84064
Trisomy 13
Ventricular septal defect, Hernia, Atrial septal defect, Hydrops fetalis, Patent ductus arteriosus ORPHA:3378
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Umbilical hernia, Tetralo... OMIM:192430
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Panhypophysitis
Pallor, Orthostatic hypotension ORPHA:95513
Brucellosis
Arteritis, Transient ischemic attack, Pleural effusion, Abnormal aortic valve morphology, Myocard... ORPHA:1304
Phaver Syndrome
Camptodactyly of finger, Myelomeningocele, Ventricular septal defect, Coarctation of aorta, Pulmo... ORPHA:2876
Fanconi Anemia, Complementation Group A
Abnormal heart morphology, Anemic pallor, Bruising susceptibility OMIM:227650
Tsh-Secreting Pituitary Adenoma
Hypotension, Congestive heart failure, Pericardial effusion, Palpitations, Pallor, Supraventricul... ORPHA:91347
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Elbow flexion contracture, Facial telangiectasia, Joint contracture of t... OMIM:602782
Trisomy X
Atrial septal defect, Ventricular septal defect ORPHA:3375
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:619909
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele ORPHA:2736
Recombinant 8 Syndrome
Camptodactyly of finger, Tetralogy of Fallot, Redundant skin, Ventricular septal defect, Pulmonar... ORPHA:96167
Diamond-Blackfan Anemia
Abnormal heart morphology, Radial artery aplasia, Pallor, Ventricular septal defect, Nonimmune hy... ORPHA:124
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Congestive heart failure, Umbilical hernia, Elbow flexion contracture, Str... OMIM:608328
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Secundum atrial septal defect, Ventricular septal defect, Coarctation of aorta, Perimembranous ve... OMIM:600987
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Pelger-Huet Anomaly
Umbilical hernia, Ventricular septal defect OMIM:169400
Stormorken Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, Subarachnoid hemorrhage OMIM:185070
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Loeys-Dietz Syndrome
Arterial dissection, Atypical scarring of skin, Abnormal bleeding, Aortic dissection, Bruising su... ORPHA:60030
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Bruising susceptibility ORPHA:231401
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Polyhydramnios, Ventricular septal defect ORPHA:2256
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Pallor OMIM:194380
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Acrocardiofacial Syndrome
Camptodactyly of finger, Tetralogy of Fallot, Mitral stenosis, Truncus arteriosus, Ventricular se... ORPHA:2008
Focal Dermal Hypoplasia
Umbilical hernia, Myelomeningocele, Diastasis recti, Congenital diaphragmatic hernia, Inguinal he... OMIM:305600
C Syndrome
Redundant skin, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the abdominal wall muscula... ORPHA:1308
3P25.3 Microdeletion Syndrome
Knee flexion contracture, Coronary artery atherosclerosis, Ventricular septal defect, Atrial sept... ORPHA:435638
Isolated Klippel-Feil Syndrome
Spina bifida, Ventricular septal defect ORPHA:2345
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardiomyopathy, Tricuspi... OMIM:617506
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Ventricular septal defect OMIM:218350
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Patent ductus arteriosus, Ventricular septal defect OMIM:617516
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... OMIM:618619
Manitoba Oculotrichoanal Syndrome
Omphalocele OMIM:248450
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Pa... OMIM:612562
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Holoprosencephaly 14
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect OMIM:619895
Ogden Syndrome
Facial wrinkling, Torsade de pointes, Ventricular septal defect, Pulmonary edema, Premature ventr... OMIM:300855
Kapur-Toriello Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect ORPHA:2328
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Mitral regurgitation, Ventricular septal defect, Arrhythmia, Atrial septal ... ORPHA:254346
Prolactinoma
Hypotension, Pallor ORPHA:2965
Transketolase Deficiency
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,... ORPHA:488618
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Cutis marmorata, Encephalocel... OMIM:100300
Verheij Syndrome
Truncus arteriosus, Branchial cyst, Ventricular septal defect OMIM:615583
Hermansky-Pudlak Syndrome 11
Gingival bleeding, Epistaxis, Bruising susceptibility, Menorrhagia OMIM:619172
Zika Virus Disease
Subcutaneous hemorrhage, Edema ORPHA:448237
Pigmented Nodular Adrenocortical Disease, Primary, 2
Striae distensae, Hypertension, Bruising susceptibility OMIM:610475
Pearson Marrow-Pancreas Syndrome
Erythema, Hydrops fetalis, Pallor, Dehydration OMIM:557000
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Pallor OMIM:301310
Brachydactyly, Type B1
Camptodactyly, Joint contracture of the hand, Ventricular septal defect OMIM:113000
ERI1-related disease
Tricuspid regurgitation, Abnormal heart morphology, Inguinal hernia, Ventricular septal defect, P... OMIM:608739
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Meningocele, Intracranial hemorrhage, Hypertension OMIM:614424
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Distal Deletion 19P
Keloids, Umbilical hernia, Ventricular septal defect, Tricuspid valve prolapse, Pulmonary valve a... ORPHA:96129
Combined Oxidative Phosphorylation Deficiency 15
Inguinal hernia, Ventricular septal defect, Shortened PR interval, Ventricular septal hypertrophy... OMIM:614947
Hermansky-Pudlak Syndrome 5
Epistaxis, Prolonged bleeding time, Bruising susceptibility, Menorrhagia OMIM:614074
Kyphoscoliotic Ehlers-Danlos Syndrome
Atypical scarring of skin, Poor wound healing, Subdural hemorrhage, Bruising susceptibility, Umbi... ORPHA:536545
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Patent foramen ovale OMIM:616789
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Dextrocardia, Ventricular septal defect OMIM:616037
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Ascites, Inguinal hernia, Redundant neck skin, Ventricular septal de... ORPHA:1655
Woods Syndrome
Ventricular septal defect OMIM:615236
Microcephaly-Capillary Malformation Syndrome
Right ventricular hypertrophy, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:614261
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Congenital Heart Defects And Skeletal Malformations Syndrome
Aortic root aneurysm, Cutis marmorata, Congenital diaphragmatic hernia, Ventricular septal defect... OMIM:617602
Braddock-Carey Syndrome 1
Camptodactyly, Enamel hypoplasia, Aortic valve prolapse, Ventricular septal defect OMIM:619980
Dentinogenesis Imperfecta
Bruising susceptibility, Generalized hypoplasia of dental enamel, Grayish enamel, Hypocalcificati... ORPHA:49042
Otopalatodigital Syndrome, Type Ii
Elbow contracture, Umbilical hernia, Atrial septal defect, Omphalocele, Stillbirth, Spina bifida,... OMIM:304120
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly, Co... OMIM:614921
Neuroblastoma
Abnormal bleeding, Anemic pallor, Hypertension ORPHA:635
Lateral Meningocele Syndrome
Keloids, Umbilical hernia, Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Aor... OMIM:130720
Phace Association
Arterial stenosis, Ventricular septal defect, Coarctation of aorta, Aortic aneurysm, Anomalous br... OMIM:606519
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Subcutaneous lipoma, Ventricular septal defect, Subvalvular... OMIM:613001
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1770
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Polyhydramnios, Redundant neck skin, Ventricular septal defect, Atrial septal defect, Camptodacty... OMIM:617360
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Pulmonary arterial hypertension, Atrial septal defect, Ventricular septal defect OMIM:616449
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Paten... OMIM:617159
Alagille Syndrome
Peripheral pulmonary artery stenosis, Ventricular septal defect, Telangiectasia of the skin, Atri... ORPHA:52
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Edema, Ventricular septal defect OMIM:618348
Fanconi Anemia, Complementation Group D2
Abnormal heart morphology, Anemic pallor, Bruising susceptibility, Patent ductus arteriosus OMIM:227646
Intellectual Developmental Disorder, Autosomal Dominant 47
Increased nuchal translucency, Ventricular septal defect OMIM:617635
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Erythema, Camptodactyly of finger, Abnormal dental enamel morphology, Inguinal hernia, Omphalocel... ORPHA:2273
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Cellulitis, Vasculitis, Erythema, Bruising susceptibility, Fasciitis, Abnormal myocardium morphol... ORPHA:32960
Seckel Syndrome 9
Pulmonary artery hypoplasia, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial s... OMIM:616777
Brittle Cornea Syndrome
Bruising susceptibility, Corneal scarring, Mitral valve prolapse, Hernia, Camptodactyly, Pulmonic... ORPHA:90354
X-Linked Lissencephaly With Abnormal Genitalia
Patent ductus arteriosus, Ventricular septal defect ORPHA:452
Aase-Smith Syndrome I
Flexion contracture, Ventricular septal defect OMIM:147800
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Jaundice, Arthrogryposis multiplex congenita, Right ventricular hypertrophy, Ventricular septal d... OMIM:613404
Pallister-Killian Syndrome
Aortic valve stenosis, Camptodactyly of 2nd-5th fingers, Umbilical hernia, Hypertrophic cardiomyo... OMIM:601803
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Knee flexion contracture, Patent ductus arteriosus after premat... OMIM:620454
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:613680
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Ventricular septal defect OMIM:619995
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect ORPHA:75389
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Atrial septal defect, Meningocele, Anencephaly OMIM:611134
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Patent foramen ovale, Ventricular septal defect, Lipodystrop... OMIM:270450
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Encephalocele, Transposition of the great arteries, Atrial septal defect,... OMIM:253800
Mgat2-Cdg
Abnormal bleeding, Abnormal heart morphology, Ventricular septal defect, Arrhythmia, Hydrops feta... ORPHA:79329
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Noonan Syndrome
Abnormal bleeding, Bruising susceptibility, Abnormal EKG, Hypertrophic cardiomyopathy, Lymphedema... ORPHA:648
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Dilation of Virchow-Robin spaces, Contracture of the proximal interphalangeal joint of the 2nd fi... OMIM:300998
Kleefstra Syndrome
Tetralogy of Fallot, Ventricular septal defect, Hernia, Bicuspid aortic valve, Arrhythmia, Coarct... ORPHA:261494
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Hypoplastic aortic arch, Meningocele, Ventricular septal defect OMIM:620511
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:46627
Ritscher-Schinzel Syndrome 2
Pulmonary artery hypoplasia, Camptodactyly of finger, Ventricular septal defect, Atrial septal de... OMIM:300963
Multiple Endocrine Neoplasia Type 2
Hypertensive crisis, Palpitations, Pallor, Hypertension associated with pheochromocytoma, Reduced... ORPHA:653
Koolen-De Vries Syndrome
Aortic root aneurysm, Dry skin, Ventricular septal defect, Bicuspid aortic valve, Atrial septal d... OMIM:610443
Mosaic Trisomy 9
Camptodactyly of finger, Abnormal heart valve morphology, Endocardial fibroelastosis, Oligohydram... ORPHA:99776
Thakker-Donnai Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Congenital diaphragmatic hernia, Ventri... ORPHA:1780
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Polyhydramnios, Camptodactyly of finger, Ventricular septal defect OMIM:616920
Bcard Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Bruising susceptibility, Dil... OMIM:612394
Spondyloepimetaphyseal Dysplasia, Krakow Type
Bruising susceptibility, Elbow contracture, Knee flexion contracture, Atrial septal defect, Paten... OMIM:618162
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Branchial fistula, Camptodactyly of finger, Inguinal hernia, Truncus arteri... ORPHA:261330
19Q13.11 Microdeletion Syndrome
Dry skin, Ventricular septal defect ORPHA:217346
Lateral Meningocele Syndrome
Meningocele, Umbilical hernia, Inguinal hernia, Ventricular septal defect ORPHA:2789
Vascular Ehlers-Danlos Syndrome
Mitral valve prolapse, Excessive wrinkled skin, Pulmonary artery aneurysm, Arteriovenous fistulas... ORPHA:286
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Flexion contracture, Bruising susceptibility ORPHA:98791
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Camptodactyly, Pulmonic stenosis, Ventricular septal defect OMIM:619123
Holoprosencephaly 7
Occipital meningocele, Omphalocele OMIM:610828
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Elbow flexion contracture, Inguinal hernia, Knee flexion contracture, Hip cont... OMIM:178110
Pigmented Nodular Adrenocortical Disease, Primary, 1
Striae distensae, Hypertension, Bruising susceptibility OMIM:610489
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Congenital diaphragmatic hernia, Inguinal hernia, Ventricular septal def... OMIM:614294
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Ventricula... OMIM:620025
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Pulmonary artery atresia, Paten... OMIM:620113
Kapur-Toriello Syndrome
Joint contracture of the hand, Camptodactyly of finger, Ventricular septal defect, Atrial septal ... OMIM:244300
Oeis Complex
Myelomeningocele, Cloacal exstrophy, Omphalocele, Bladder exstrophy OMIM:258040
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta, Aortic aneurysm, Bruising susceptibility, Mitral valve prolapse OMIM:166200
Hermansky-Pudlak Syndrome 8
Gingival bleeding, Epistaxis, Bruising susceptibility, Excessive bleeding from superficial cuts, ... OMIM:614077
Hypermobile Ehlers-Danlos Syndrome
Arterial dissection, Epistaxis, Atypical scarring of skin, Aortic root aneurysm, Bruising suscept... ORPHA:285
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Cutis marmorata, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Patent d... OMIM:610759
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Poor wound healing, Bruising susceptibility, Congestive heart failur... OMIM:225400
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect ORPHA:457193
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Ventricular septal defect, Neonatal death, Prolonged ne... OMIM:619534
Diets-Jongmans Syndrome
Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Ventricular septal defect, In... OMIM:618846
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Hermansky-Pudlak Syndrome
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Cardiomyopath... ORPHA:79430
Genitourinary And/Or Brain Malformation Syndrome
Omphalocele OMIM:618820
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Vascular dilatation, Ventricular septal defect OMIM:219730
Congenital Tracheal Stenosis
Hypoplastic left heart, Fetal ascites, Anomalous origin of left pulmonary artery from ascending a... ORPHA:141127
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Contracture of the pr... ORPHA:457279
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:52055
Basel-Vanagaite-Smirin-Yosef Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Inguinal hernia, Ventricular... ORPHA:464738
Paternal Uniparental Disomy Of Chromosome 6
Abdominal wall defect, Umbilical hernia, Oligohydramnios, Ventricular septal defect, Cardiomegaly... ORPHA:96191
Cholestasis, Progressive Familial Intrahepatic, 6
Bleeding requiring red cell transfusion, Bruising susceptibility OMIM:619484
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Neonatal death, Ventricular septal defect, Atrial septal defect, Patent ... OMIM:620024
Trichothiodystrophy
Cardiomyopathy, Umbilical hernia, Dry skin, Absence of subcutaneous fat, Multiple joint contractu... ORPHA:33364
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Patent ductus arteriosus, Morgagni diaphragmatic hernia, Ventric... OMIM:613309
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosi... OMIM:614114
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Dentinogenesis imperfecta, Aortic root aneurysm, Bruising susceptibility, Atrophic scars, Oligohy... ORPHA:536467
Noonan Syndrome 1
Chylothorax, Abnormal bleeding, Bruising susceptibility, Lymphedema, Hypertrophic cardiomyopathy,... OMIM:163950
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Pa... OMIM:600460
Limb Body Wall Complex
Abdominal wall defect, Abnormal heart morphology, Myelomeningocele, Diastasis recti, Congenital d... ORPHA:2369
Cerebellar-Facial-Dental Syndrome
Foot joint contracture, Abnormal T-wave, Inguinal hernia, Mitral valve prolapse, Ventricular sept... ORPHA:444072
Neu-Laxova Syndrome 1
Yellow subcutaneous tissue covered by thin, scaly skin, Generalized edema, Joint contracture of t... OMIM:256520
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ven... OMIM:309801
Wilson Disease
Jaundice, Bruising susceptibility, Joint swelling ORPHA:905
Hajdu-Cheney Syndrome
Aortic valve stenosis, Skin ulcer, Umbilical hernia, Dry skin, Mitral stenosis, Inguinal hernia, ... ORPHA:955
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Chime Syndrome
Erythema, Skin ulcer, Tetralogy of Fallot, Ventricular septal defect, Pulmonary valve atresia, Tr... ORPHA:3474
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dry skin, Flexion contracture, Ventricular septal defect OMIM:619306
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:77298
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Patent ductus arteriosus,... OMIM:277600
Rabson-Mendenhall Syndrome
Cardiomyopathy, Premature graying of hair, Dry skin, Reduced subcutaneous adipose tissue, Ventric... ORPHA:769
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Cutis marmorata, Congenital diaphragmatic hernia, Inguinal hernia, Ventric... ORPHA:96121
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Ventricular septal defect, Atrial septal defect, Heart murmur, Intracran... ORPHA:163979
Fanconi Anemia, Complementation Group B
Coarctation of aorta, Patent ductus arteriosus, Ventricular septal defect OMIM:300514
Omphalocele Syndrome, Shprintzen-Goldberg Type
Omphalocele ORPHA:3164
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ascending tubular aorta aneurysm, Flexion contracture, Atrial septal defect, Ventricular septal d... OMIM:309520
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Tetralogy of Fallot, Large placenta, Ventricular septal defect, Polyhydramn... OMIM:222470
Down Syndrome
Secundum atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Atrioventricular canal defe... ORPHA:870
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal heart morphology, Atrioventricular canal defect, Increased nuchal translucency, Branchia... ORPHA:453499
Distal Duplication 5Q
Hernia, Dextrocardia, Ventricular septal defect ORPHA:96097
Dysosteosclerosis
Abnormal dental enamel morphology, Ventricular septal defect ORPHA:1782
Cog8-Cdg
Prolonged prothrombin time, Spontaneous hematomas ORPHA:95428
X Small Rings
Aortic root aneurysm, Oligohydramnios, Mitral stenosis, Ventricular septal defect, Bicuspid aorti... ORPHA:96201
Fraser Syndrome
Myelomeningocele, Encephalocele, Omphalocele, Umbilical hernia ORPHA:2052
Hardikar Syndrome
Bladder exstrophy, Umbilical hernia, Portal hypertension, Patent foramen ovale, Ventricular septa... OMIM:301068
Shprintzen Omphalocele Syndrome
Omphalocele OMIM:182210
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Palpebral edema, Mitral regurgitation, Ventricular... OMIM:614866
Mckusick-Kaufman Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pat... ORPHA:2473
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Hypertrophic cardiomyopathy, Inguinal hernia, Ventricular septal defect, At... OMIM:607721
Opitz Gbbb Syndrome
Umbilical hernia, Inguinal hernia, Ventricular septal defect OMIM:300000
Gaucher Disease Type 1
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Ascites, Portal hypertension, Pulm... ORPHA:77259
Ulnar-Mammary Syndrome
Hernia of the abdominal wall, Arrhythmia, Camptodactyly of finger, Ventricular septal defect ORPHA:3138
Chédiak-Higashi Syndrome
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Pleural effusion, Peric... ORPHA:167
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Chromosome 14Q11-Q22 Deletion Syndrome
Inguinal hernia, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:613457
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Renal Agenesis
Oligohydramnios, Hypertension, Ventricular septal defect ORPHA:411709
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Patent ductus arteriosus, Ventricular septal defect OMIM:300472
Restrictive Dermopathy
Camptodactyly of finger, Small placenta, Large placenta, Multiple joint contractures, Short umbil... ORPHA:1662
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ven... ORPHA:508498
Mosaic Trisomy 16
Abnormal heart morphology, Large placenta, Ventricular septal defect, Single coronary artery orig... ORPHA:1708
Brain-Lung-Thyroid Syndrome
Patent foramen ovale, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal d... ORPHA:209905
Chops Syndrome
Patent foramen ovale, Patent ductus arteriosus, Anomalous pulmonary venous return, Ventricular se... OMIM:616368
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Aortic regurgitation, Ankle flexion contracture, Oligohydramnios, Ventricu... ORPHA:464311
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Tetralogy of Fallot, Umbilical hernia, Abnormal pulmonary valve morpholo... ORPHA:1507
Osteogenesis Imperfecta
Aortic regurgitation, Arterial dissection, Dentinogenesis imperfecta, Aortic root aneurysm, Aorti... ORPHA:666
Williams Syndrome
Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Ov... ORPHA:904
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Shoulder flexion contracture, Tetralogy of Fallot, Muscular ventricular septal defect, Elbow flex... OMIM:210710
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Atrophic scars, Fragile skin, Bruising susceptibility OMIM:617821
Acrofacial Dysostosis 1, Nager Type
Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular septal defect, Patent ductus ar... OMIM:154400
Mycophenolate Mofetil Embryopathy
Coarctation of aorta, Hydrops fetalis, Congenital diaphragmatic hernia, Ventricular septal defect ORPHA:268249
Coffin-Siris Syndrome 4
Mitral atresia, Ventricular septal defect, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:614609
Tetraamelia Syndrome 2
Ventricular septal defect, Hypoplastic pulmonary veins OMIM:618021
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Hiatus hernia, Ventricular septal defect, Patent ductus arteriosus, Cerebral hemorrhage OMIM:616682
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic val... OMIM:612474
Occipital Horn Syndrome
Bruising susceptibility, Redundant skin, Carotid artery tortuosity, Hiatus hernia, Orthostatic hy... OMIM:304150
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Branchial cyst, Abnormal heart morphology, Atrioventricular canal de... ORPHA:508488
Cornelia De Lange Syndrome 1
Elbow flexion contracture, Cutis marmorata, Inguinal hernia, Congenital diaphragmatic hernia, Ven... OMIM:122470
Alzahrani-Kuwahara Syndrome
Coronary sinus enlargement, Dry skin, Patent foramen ovale, Ventricular septal defect, Pulmonary ... OMIM:619268
Liver Disease, Severe Congenital
Umbilical hernia, Ascites, Dilatation of the ventricular cavity, Inguinal hernia, Patent foramen ... OMIM:619991
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Coa... OMIM:618748
Catel-Manzke Syndrome
Umbilical hernia, Inguinal hernia, Ventricular septal defect, Overriding aorta, Coarctation of ao... OMIM:616145
Thauvin-Robinet-Faivre Syndrome
Inguinal hernia, Mitral valve prolapse, Ventricular septal defect, Varicose veins, Pedal edema OMIM:617107
Coffin-Siris Syndrome
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Hernia, Atrial septal ... ORPHA:1465
Thrombocytopenia-Absent Radius Syndrome
Prolonged bleeding following circumcision, Tetralogy of Fallot, Atrioventricular canal defect, Ve... OMIM:274000
Marshall-Smith Syndrome
Bruising susceptibility ORPHA:561
Smith-Lemli-Opitz Syndrome
Atrioventricular canal defect, Abnormal dental enamel morphology, Cutis marmorata, Increased nuch... ORPHA:818
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ectodermal dysplasia, Patent ductus arteriosus, Ventricular septal defect OMIM:106260
Chediak-Higashi Syndrome
Jaundice, Bruising susceptibility, Spontaneous, recurrent epistaxis OMIM:214500
Occipital Horn Syndrome
Atypical scarring of skin, Keloids, Bruising susceptibility, Inguinal hernia, Venous insufficienc... ORPHA:198
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Aortic regurgitation, Oligohydramnios, Multiple joint contractures, Ventri... ORPHA:464306
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Robinow Syndrome
Umbilical hernia, Abnormal heart morphology, Ventricular septal defect, Coarctation of aorta, Pul... ORPHA:97360
Myhre Syndrome
Aortic valve stenosis, Ventricular septal defect, Coarctation of aorta, Camptodactyly, Atrial sep... OMIM:139210
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:619575
Goodpasture Syndrome
Pulmonary hemorrhage, Pallor, Cyanosis OMIM:233450
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Camptodactyly of finger, Tricuspid regurgitation, Ventricular septal defect, C... ORPHA:261337
Orofaciodigital Syndrome V
Tetralogy of Fallot, Ventricular septal defect OMIM:174300
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hydrops fetalis, Omphalocele ORPHA:93271
Carpenter Syndrome 2
Umbilical hernia, Tricuspid regurgitation, Situs inversus totalis, Knee flexion contracture, Cuti... OMIM:614976
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Increased nuchal translucency, Redund... ORPHA:3472
Osteogenesis Imperfecta, Type Xvi
Bruising susceptibility, Prolonged bleeding time OMIM:616229
Acute Liver Failure
Hypotension, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Jaun... ORPHA:90062
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Bruising susceptibility, Premature graying of hair OMIM:112250
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Right ventricular ... OMIM:300967
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal right ventricle morphology, Inguinal hernia, Mitral valve prolapse, Ventricular septal d... ORPHA:500095
Tetraamelia Syndrome 1
Adrenal gland agenesis OMIM:273395
Costello Syndrome
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Redundant neck ski... OMIM:218040
Craniofacioskeletal Syndrome
Interrupted aortic arch, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:300712
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Inguinal hernia, Ventricular septal defect, Coarct... ORPHA:2308
Williams-Beuren Syndrome
Peripheral pulmonary artery stenosis, Myxomatous mitral valve degeneration, Coronary artery steno... OMIM:194050
Feingold Syndrome 1
Interrupted aortic arch, Ventricular septal defect, Polyhydramnios, Tricuspid stenosis, Patent du... OMIM:164280
Meier-Gorlin Syndrome 7
Second degree atrioventricular block, Complete atrioventricular canal defect, Ventricular septal ... OMIM:617063
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Tricuspid regurgitation, Abnormal left ventricle morphology, Right ventricular hypertrophy, Paten... ORPHA:466791
Chromosome 13Q14 Deletion Syndrome
Umbilical hernia, Inguinal hernia, Patent foramen ovale, Ventricular septal defect OMIM:613884
Hajdu-Cheney Syndrome
Umbilical hernia, Inguinal hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:102500
Autoimmune Lymphoproliferative Syndrome
Vasculitis, Abnormal bleeding, Bruising susceptibility, Hydrops fetalis, Panniculitis, Urticaria ORPHA:3261
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Polyhydramnios, Ventricular septal defect OMIM:615503
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Patent ductus arteriosus, Cephalohematoma, Atrial septal defect, Ventricular septal defect OMIM:620558
Cornelia De Lange Syndrome 6
Atrioventricular canal defect, Pulmonary artery atresia, Inguinal hernia, Ventricular septal defect OMIM:620568
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Hydrops fetalis, Atrial septal defect, Ventricular septal defect OMIM:263520
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Aortic regurgitation, Ventricular hypertrophy, Camptodactyly of finger, Tr... OMIM:143095
Ellis Van Creveld Syndrome
Atrioventricular canal defect, Abnormal heart valve morphology, Situs inversus totalis, Ventricul... ORPHA:289
Cardiospondylocarpofacial Syndrome
Muscular ventricular septal defect, Mitral regurgitation, Patent foramen ovale, Dysplastic tricus... OMIM:157800
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Vascular ring, Keloids, Abnormal heart morphology, Cardiac conduction abno... ORPHA:353281
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding following procedure, Pu... ORPHA:79259
Fanconi Anemia, Complementation Group N
Atrial septal defect, Ventricular septal defect OMIM:610832
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aortic root aneurysm, Congestive heart failure, Abnormal heart morphology, Patent foramen ovale, ... ORPHA:444077
Femoral-Facial Syndrome
Camptodactyly of finger, Inguinal hernia, Encephalocele, Truncus arteriosus, Ventricular septal d... OMIM:134780
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Dilatation of the ventricular cavity, Polyhydramnios, Inguinal hernia, Ventricular septal defect,... ORPHA:459070
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Alagille Syndrome 1
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal artery stenosis, Ventricular sep... OMIM:118450
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Fragile skin, Atrial sept... OMIM:271640
Chromosome 16P13.3 Duplication Syndrome
Tetralogy of Fallot, Inguinal hernia, Ventricular septal defect, Atrial septal defect, Camptodactyly OMIM:613458
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Atrial septal defe... OMIM:301030
Thrombocytopenia 2
Bruising susceptibility OMIM:188000
Congenital Disorder Of Glycosylation, Type Iiw
Tetralogy of Fallot, Inguinal hernia, Ventricular septal defect, Prolonged prothrombin time, Prol... OMIM:619525
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Ventricular septal defect, Spina bifida, Meningocele ORPHA:1393
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Cardiomyopathy, Umbilical hernia, Diastasis recti, Right... OMIM:312870
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Camptodactyly of finger, Atrioventricular canal defect, Ventricular septal defect, Atrial septal ... ORPHA:3047
Digeorge Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Umbilical hernia, Tetralo... OMIM:188400
Vater/Vacterl Association
Occipital encephalocele, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... OMIM:192350
Omodysplasia 1
Pulmonary artery stenosis, Umbilical hernia, Atrial septal defect, Ventricular septal defect OMIM:258315
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Vascular ring, Keloids, Abnormal heart morphology, Corneal scarring, Cardi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Vascular ring, Keloids, Abnormal heart morphology, Corneal scarring, Cardi... ORPHA:353277
Coffin-Siris Syndrome 1
Umbilical hernia, Tetralogy of Fallot, Cutis marmorata, Congenital diaphragmatic hernia, Inguinal... OMIM:135900
Cerebrocostomandibular Syndrome
Elbow flexion contracture, Ventricular septal defect, Atrial septal defect, Polyhydramnios, Paten... OMIM:117650
Acrofacial Dysostosis, Cincinnati Type
Pulmonary artery aneurysm, Biventricular hypertrophy, Partial atrioventricular canal defect, Ingu... OMIM:616462
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anomalous origin of left subclavian artery, Abnormal heart morphology, Patent foramen ovale, Vent... ORPHA:438213
Keutel Syndrome
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Ventricular septal defect, Hyp... OMIM:245150
Hereditary Sensory And Autonomic Neuropathy Type 4
Atypical scarring of skin, Bruising susceptibility, Fasciitis, Dry skin, Corneal scarring, Orthos... ORPHA:642
Chromosome 1P36 Deletion Syndrome, Distal
Dilated cardiomyopathy, Aortic root aneurysm, Camptodactyly of finger, Tetralogy of Fallot, Paten... OMIM:607872
Carney Complex
Bruising susceptibility, Congestive heart failure, Dilatation of the cerebral artery, Striae dist... ORPHA:1359
Renpenning Syndrome 1
Joint contracture of the hand, Tetralogy of Fallot, Situs inversus totalis, Ventricular septal de... OMIM:309500
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hypertrophic cardiomyopathy, Abnormal heart morphology, Mitral regurgitation, Mitral valve prolap... ORPHA:363700
Ulnar-Mammary Syndrome
Elbow flexion contracture, Arrhythmia, Inguinal hernia, Ventricular septal defect OMIM:181450
Sotos Syndrome
Ankle flexion contracture, Umbilical hernia, Abnormal heart morphology, Flushing, Inguinal hernia... ORPHA:821
Pallister-Hall Syndrome
Umbilical hernia, Atrioventricular canal defect, Oligohydramnios, Inguinal hernia, Ventricular se... ORPHA:672
Mowat-Wilson Syndrome
Abnormal heart morphology, Ventricular septal defect, Pulmonary artery sling, Pulmonary artery st... OMIM:235730
Penile Agenesis
Oligohydramnios, Cloacal abnormality, Atrial septal defect, Ventricular septal defect ORPHA:49
Roberts-Sc Phocomelia Syndrome
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Ventricular septa... OMIM:268300
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Redundant n... OMIM:216340
Orofaciodigital Syndrome Xiv
Patent ductus arteriosus, Occipital encephalocele, Atrial septal defect, Ventricular septal defect OMIM:615948
Townes-Brocks Syndrome 1
Tetralogy of Fallot, Umbilical hernia, Atrial septal defect, Ventricular septal defect OMIM:107480
Johanson-Blizzard Syndrome
Generalized edema, Dilated cardiomyopathy, Anasarca, Ascites, Portal hypertension, Situs inversus... OMIM:243800
Craniofacial Microsomia 1
Occipital encephalocele, Tetralogy of Fallot, Right aortic arch, Branchial anomaly, Ventricular s... OMIM:164210
Pituitary Adenoma 1, Multiple Types
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... OMIM:102200
Pituitary Gigantism
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth... ORPHA:99725
Acromegaly
Hypertrophic cardiomyopathy, Joint swelling, Mitral regurgitation, Palpebral edema, Hypertension ORPHA:963

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Aip

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Aip.

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Aiptm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Aiptm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Aiptm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Aiptm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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