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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
Increased circulating prolactin concentration, Pituitary adenoma, Prolactinoma, Increased circula... OMIM:102200
Pituitary Gigantism
Increased circulating prolactin concentration, Type II diabetes mellitus, Increased circulating i... ORPHA:99725
Acromegaly
Hypertension, Hypertrophic cardiomyopathy, Mitral regurgitation, Palpebral edema, Joint swelling 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
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Patent Ductus Arteriosus 2
Patent ductus arteriosus OMIM:617035
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Immune Thrombocytopenia
Petechiae, Cerebral hemorrhage, Purpura, Bruising susceptibility, Epistaxis, Gingival bleeding, G... ORPHA:3002
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Mucoid extracellular matrix accumulation, Ascending aortic dissection, Abnormal ... ORPHA:91387
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Cutaneous Collagenous Vasculopathy
Petechiae, Prominent superficial blood vessels, Bruising susceptibility, Erythema, Vascular skin ... ORPHA:280779
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome, Adrenal hyperplasia OMIM:103900
Bleeding Disorder, Platelet-Type, 8
Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged bleeding after surge... OMIM:609821
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Striae distensae, Petechiae, Mitral valve prolapse, Bruising susceptibility, Atypical scarring of... OMIM:225310
Factor Xiii, B Subunit, Deficiency Of
Abnormal umbilical stump bleeding, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolon... OMIM:613235
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Fetal And Neonatal Alloimmune Thrombocytopenia
Petechiae, Purpura, Intracranial hemorrhage, Abnormal bleeding, Ecchymosis, Cephalohematoma, Gast... ORPHA:853
Evans Syndrome
Petechiae, Jaundice, Syncope, Bruising susceptibility, Pallor, Epistaxis ORPHA:1959
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Bleeding Disorder, Platelet-Type, 14
Epistaxis, Prolonged bleeding time, Bruising susceptibility, Ecchymosis OMIM:614158
Factor Xiii, A Subunit, Deficiency Of
Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracran... OMIM:613225
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Pallor, Myocardial infarction, Abnormality of venous physiology, St... ORPHA:90064
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism, Warfarin-induced skin necrosis, Purpura OMIM:612336
Congenital Factor Xiii Deficiency
Cerebral hemorrhage, Subcutaneous hemorrhage, Post-partum hemorrhage, Persistent bleeding after t... ORPHA:331
Thrombocytopenia 5
Epistaxis, Bruising susceptibility, Petechiae OMIM:616216
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Bruising susceptibility, Ecchymosis OMIM:614009
Glanzmann Thrombasthenia
Spontaneous, recurrent epistaxis, Purpura, Bruising susceptibility, Ecchymosis, Prolonged bleedin... ORPHA:849
Purpura Simplex
Epistaxis, Menorrhagia, Purpura, Bruising susceptibility OMIM:179000
Glanzmann Thrombasthenia 1
Purpura, Intracranial hemorrhage, Bruising susceptibility, Ecchymosis, Epistaxis, Subdural hemorr... OMIM:273800
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Ecchymosis, Epistaxis, Menorrhagia, Prolonged bleeding time OMIM:614201
Partial Atrioventricular Septal Defect
Angina pectoris, Palpitations, Atrial arrhythmia, Double outlet right ventricle, Partial atrioven... ORPHA:1330
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Left ventricular outflow tract obstruction, Hypoplastic pulmonary ... OMIM:613854
Cutaneous Small Vessel Vasculitis
Vasculitis, Purpura, Cutis marmorata, Erythema, Urticaria ORPHA:889
Cardiac Diverticulum
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Pulmonary artery stenosis, Endocarditis,... ORPHA:1686
Portal Hypertension, Noncirrhotic, 2
Petechiae, Ecchymosis, Epistaxis, Portal hypertension, Ascites OMIM:619463
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Vascular ring, Lymphedema, ... OMIM:601927
Dengue Fever
Hypotension, Cerebral hemorrhage, Petechiae, Bruising susceptibility, Epistaxis, Gingival bleedin... ORPHA:99828
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Vitreous hemorrhage, Purpura OMIM:612304
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Abnormal cerebral vascular morphology, Subcutaneous hemorrhage, Skin ulcer, P... ORPHA:743
Snakebite Envenomation
Hypotension, Cerebral ischemia, Cardiogenic shock, Abnormal bleeding, Intracranial hemorrhage, St... ORPHA:449285
Orthostatic Hypotensive Disorder, Streeten Type
Orthostatic hypotension, Syncope, Bruising susceptibility, Facial erythema OMIM:143850
Complement Component 4A Deficiency
Cutaneous photosensitivity, Purpura, Vasculitis OMIM:614380
Congenital Sialidosis Type 2
Telangiectasia, Petechiae, Abnormal EKG, Inguinal hernia, Edema, Abnormal heart morphology, Umbil... ORPHA:93400
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Bruising susceptibility, Prolonged bleeding time, Petechiae OMIM:314050
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Purpura, Cerebral hemorrhage OMIM:614514
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism, Abnormal cerebral vascular morphology, Warfarin-induced skin necrosis, Purpur... ORPHA:745
Pseudo-Torch Syndrome 2
Patent ductus arteriosus, Petechiae, Cerebral hemorrhage, Secundum atrial septal defect, Pleural ... OMIM:617397
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia OMIM:201910
Bernard-Soulier Syndrome
Petechiae, Spontaneous, recurrent epistaxis, Abnormal bleeding, Bruising susceptibility, Gingival... ORPHA:274
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Bruising susceptibility, Petechiae, Persistent bleeding after trauma OMIM:300367
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating renin, Adrenal hyperp... ORPHA:404
Bleeding Disorder, Platelet-Type, 17
Petechiae, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged bleeding ... OMIM:187900
Ventricular Septal Defect 1
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... OMIM:614429
Bernard-Soulier Syndrome
Abnormal bleeding, Purpura, Epistaxis, Gingival bleeding, Gastrointestinal hemorrhage, Menorrhagi... OMIM:231200
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac arrest, Congestive heart failur... ORPHA:49827
Ovarian Hyperstimulation Syndrome
Hypovolemia, Pulmonary edema, Pleural effusion, Peripheral edema, Capillary leak, Ascites, Genera... ORPHA:64739
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia OMIM:202110
Cryoglobulinemic Vasculitis
Petechiae, Skin ulcer, Purpura, Cutis marmorata, Gastrointestinal hemorrhage, Vasculitis ORPHA:91138
Prothrombin Deficiency, Congenital
Bruising susceptibility, Ecchymosis, Epistaxis, Gingival bleeding, Gastrointestinal hemorrhage, M... OMIM:613679
Autoimmune Polyendocrinopathy Type 1
Decreased circulating aldosterone level, Increased circulating cortisol level, Adrenal hyperplasi... ORPHA:3453
Acquired Purpura Fulminans
Macular purpura, Pyoderma gangrenosum, Acrocyanosis, Intracranial hemorrhage, Internal hemorrhage... ORPHA:49566
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Omphalocele, Tetralogy of Fallot OMIM:613630
Scimitar Syndrome
Truncus arteriosus, Heart block, Abnormal vena cava morphology, Double outlet right ventricle, Ve... ORPHA:185
Aortic Arch Interruption
Cyanosis, Pedal edema, Systolic heart murmur, Left ventricular outflow tract obstruction, Truncus... ORPHA:2299
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Patent ductus arteriosus, Pulmonary artery atresia ORPHA:1208
Drug-Induced Lupus Erythematosus
Pericarditis, Prolonged QTc interval, Petechiae, Pericardial effusion ORPHA:231111
Familial Hyperaldosteronism Type I
Secretory adrenocortical adenoma, Abnormal circulating renin, Dexamethasone-suppressible primary ... ORPHA:403
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Acute Promyelocytic Leukemia
Petechiae, Purpura, Abnormal bleeding, Bruising susceptibility, Diffuse alveolar hemorrhage, Epis... ORPHA:520
Roch-Leri Mesosomatous Lipomatosis
Multiple lipomas, Purpura ORPHA:529
Tricuspid Atresia
Cyanosis, Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, A... ORPHA:1209
Primary Myelofibrosis
Petechiae, Purpura, Abnormal bleeding, Ecchymosis, Pallor, Portal hypertension ORPHA:824
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricu... ORPHA:860
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Ventricular septal defect, Cutis marmorata, Atrial septal defect, Umbil... OMIM:615297
Omphalocele
Omphalocele ORPHA:660
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Dry skin, Umbilical hernia OMIM:275100
Left Ventricular Noncompaction 1
Sudden cardiac death, Patent ductus arteriosus, Ventricular septal defect, Ventricular arrhythmia... OMIM:604169
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:219080
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Diastasis recti, Ventricular septal defect, Abnormal heart morphology, Large plac... ORPHA:254534
Sea-Blue Histiocytosis
Edema, Abnormal bleeding, Petechiae ORPHA:158029
Genitopalatocardiac Syndrome
Double outlet right ventricle, Transposition of the great arteries, Right aortic arch, Ventricula... OMIM:231060
Pseudo-Torch Syndrome 1
Patent ductus arteriosus, Patent foramen ovale, Petechiae, Jaundice, Umbilical hernia OMIM:251290
Meningococcal Meningitis
Hypotension, Petechiae, Purpura, Shock, Stroke ORPHA:33475
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Bruising susceptibility, Ecchymosis, Epistaxis, Gingival bleeding, Menorrhagia, Prolon... OMIM:153670
Cocaine Intoxication
Hypotension, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Pulmonary edema, Ventricular arrh... ORPHA:90068
Congenital Heart Defects, Multiple Types, 2
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Myxomatous mitral valve ... OMIM:614980
Microvillus Inclusion Disease
Hypovolemia, Dehydration ORPHA:2290
Colchicine Poisoning
Hypotension, Hypovolemia, Cardiogenic shock, Congestive heart failure, Arrhythmia, Dehydration, M... ORPHA:31824
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Abnormal bleeding, Petechiae OMIM:612840
Aicardi-Goutieres Syndrome 1
Cardiomyopathy, Petechiae, Purpura, Acrocyanosis, Erythema, Prolonged neonatal jaundice, Vasculitis OMIM:225750
Ehlers-Danlos Syndrome, Periodontal Type, 2
Bruising susceptibility, Prominent superficial veins, Fragile skin, Inguinal hernia, Gingival ble... OMIM:617174
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Congestive heart failure, Pallor, Pericarditis, Oligohydramnios ORPHA:163596
Iga Nephropathy, Susceptibility To, 1
Purpura, Hypertension OMIM:161950
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... OMIM:217095
Tufted Angioma
Purpura, Petechiae ORPHA:1063
Livedoid Vasculopathy
Macular purpura, Pedal edema, Ischemic stroke, Abnormal capillary morphology, Skin ulcer, Atrophi... ORPHA:542643
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Petechiae OMIM:187800
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hyperaldosteronism, Adrenal hyperplasia OMIM:613677
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Plasma Clot Retraction Factor, Deficiency Of
Bruising susceptibility, Poor wound healing, Gastrointestinal hemorrhage OMIM:262800
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Cerebral hemorrhage, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged... OMIM:277450
Nephrogenic Diabetes Insipidus
Polyhydramnios, Hypovolemia, Hypernatremic dehydration ORPHA:223
Atrial Septal Defect 2
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... OMIM:607941
Epidermolysis Bullosa Simplex 5A, Ogna Type
Bruising susceptibility, Skin fragility with non-scarring blistering OMIM:131950
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left ... OMIM:618845
Fixed Subaortic Stenosis
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... ORPHA:3092
Double Outlet Right Ventricle
Cyanosis, Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart mur... ORPHA:3426
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Diabetes mellitus, Adrenal hyperplasia, Increased circulating cortisol ... OMIM:615830
Sepsis In Premature Infants
Hypotension, Cyanosis, Petechiae, Jaundice, Purpura, Abnormal bleeding, Pallor, Edema, Bradycardi... ORPHA:90051
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... OMIM:618316
Aortic Valve Disease 1
Mitral atresia, Double outlet right ventricle, Ventricular septal defect, Mitral stenosis, Bicusp... OMIM:109730
Recombinant Chromosome 8 Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Joint contrac... OMIM:179613
Kagami-Ogata Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus, Polyhydramnios, Flexion contracture, D... OMIM:608149
Marburg Hemorrhagic Fever
Hypotension, Hypovolemia, Petechiae, Jaundice, Abnormal bleeding, Internal hemorrhage, Bruising s... ORPHA:99826
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Retinitis Pigmentosa 27
Macular edema, Pallor OMIM:613750
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Decreased circulating ACTH level, Increased urinary cortisol le... OMIM:615954
Cranioacrofacial Syndrome
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Dexamethasone-suppressible primary hyperal... ORPHA:251274
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Petechiae, Purpura, Nonimmune hydrops fetalis, Cardiomegaly, Ascites, Neonatal de... OMIM:608013
Heterotaxy, Visceral, 12, Autosomal
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven... OMIM:619702
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Dry skin OMIM:614450
Wiskott-Aldrich Syndrome
Sudden cardiac death, Urticaria, Petechiae, Skin ulcer, Purpura, Intracranial hemorrhage, Interna... ORPHA:906
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Ventricular septal defect, Umbilical hernia ORPHA:2143
Boutonneuse Fever
Petechiae, Vasculitis ORPHA:83313
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial septal defect, Atrioventricular dissociation, Atrioventricular ... OMIM:614954
Primary Release Disorder Of Platelets
Spontaneous, recurrent epistaxis, Menorrhagia, Abnormal bleeding, Bruising susceptibility OMIM:176630
Complement Component 2 Deficiency
Purpura OMIM:217000
Acute Adrenal Insufficiency
Hypotension, Hypovolemia, Myocardial infarction, Orthostatic hypotension, Stroke, Dry skin ORPHA:95409
Peripheral Cone Dystrophy
Pallor OMIM:609021
Heterotaxy, Visceral, 1, X-Linked
Cyanosis, Subvalvular aortic stenosis, Atrioventricular canal defect, Polyhydramnios, Right atria... OMIM:306955
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Autoimmune Lymphoproliferative Syndrome, Type Iia
Petechiae, Urticaria, Gastrointestinal hemorrhage, Vasculitis OMIM:603909
Prolidase Deficiency
Petechiae, Prolonged neonatal jaundice, Skin ulcer, Diffuse telangiectasia OMIM:170100
Rheumatic Fever
Endocarditis, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal mitral valve morphol... ORPHA:3099
Miller-Dieker Syndrome
Polyhydramnios, Omphalocele ORPHA:531
Gaisböck Syndrome
Hypovolemia, Hypertension, Angina pectoris, Plethora, Myocardial infarction, Coronary artery athe... ORPHA:90041
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Hemochromatosis, Type 3
Purpura, Cardiomyopathy OMIM:604250
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... OMIM:614779
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Lysosomal Acid Lipase Deficiency
Hypotension, Pulmonary arterial hypertension, Hypovolemia, Ascites, Jaundice, Bone-marrow foam ce... ORPHA:275761
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Ventricular septal defect ORPHA:93267
Megabladder, Congenital
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... OMIM:618719
Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension, Hypovolemia ORPHA:427
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Fetal Minoxidil Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:1918
Hyperinsulinism Due To Ucp2 Deficiency
Syncope, Pallor, Hypertrophic cardiomyopathy, Palpitations, Tachycardia ORPHA:276556
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele OMIM:258320
Griscelli Syndrome Type 2
Jaundice, Premature graying of hair, Petechiae ORPHA:79477
Waldenström Macroglobulinemia
Retinal hemorrhage, Pedal edema, Purpura, Congestive heart failure, Cutis marmorata, Pallor, Epis... ORPHA:33226
Pituitary Adenoma 4, Acth-Secreting
Facial erythema, Striae distensae, Purpura, Hypertension, Bruising susceptibility, Ecchymosis, Ed... OMIM:219090
Ventricular Septal Defect 3
Patent ductus arteriosus, Pulmonary artery stenosis OMIM:614432
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Patent ductus arteriosus, Cyanosis, Double outlet right ventricle, Atrial septal defect, Tetralog... ORPHA:3304
Boomerang Dysplasia
Omphalocele, Polyhydramnios, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis ORPHA:1263
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Anterior encephalocele, Ventricular septal defect OMIM:601357
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Isolated Permanent Neonatal Diabetes Mellitus
Lower-limb joint contracture, Hypovolemia, Abnormal heart morphology, Dehydration, Arthrogryposis... ORPHA:99885
Familial Hemophagocytic Lymphohistiocytosis
Petechiae, Jaundice, Purpura, Bruising susceptibility, Ecchymosis ORPHA:540
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Polyhydramnios, Nonimmune hydrops fetalis, Pulmonary artery dilata... OMIM:265380
Ehlers-Danlos Syndrome, Classic Type, 2
Hernia, Atrophic scars, Bruising susceptibility, Fragile skin, Cigarette-paper scars OMIM:130010
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:249670
Congenital Factor V Deficiency
Persistent bleeding after trauma, Post-partum hemorrhage, Intracranial hemorrhage, Bruising susce... ORPHA:326
Thrombocytopenia 3
Epistaxis, Petechiae OMIM:273900
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Ventricular septal defect, Atrial septal defect, Hypoplastic left ... OMIM:220210
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Syncope, Pallor, Hypertrophic cardiomyopathy, Palpitations, Tachycardia ORPHA:276575
Breath-Holding Spells
Cyanosis, Pallor OMIM:607578
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro... ORPHA:371428
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Pallor OMIM:613561
Hemorrhagic Fever-Renal Syndrome
Hypotension, Petechiae, Pulmonary edema, Intracranial hemorrhage, Internal hemorrhage, Hypertensi... ORPHA:340
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Purpura, Petechiae OMIM:605432
Primary Pigmented Nodular Adrenocortical Disease
Increased circulating cortisol level, Type II diabetes mellitus, Decreased circulating ACTH level... ORPHA:189439
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Dermal translucency, Atrial septal defect, Bruising susceptibility, Inguinal hernia, Arterial rup... OMIM:619115
Bleeding Disorder In Hemophilia A Carriers
Post-partum hemorrhage, Abnormal bleeding, Bruising susceptibility, Epistaxis, Prolonged bleeding... ORPHA:177926
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Syncope, Pallor, Hypertrophic cardiomyopathy, Palpitations, Tachycardia ORPHA:276580
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal... ORPHA:231580
Hermansky-Pudlak Syndrome 1
Bruising susceptibility, Ecchymosis, Epistaxis, Gingival bleeding, Prolonged bleeding time, Hemat... OMIM:203300
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Left ventricular outflow tract obstruction, Aortopulmonary window, Abnormal aortic arch... ORPHA:99050
Anti-Glomerular Basement Membrane Disease
Purpura, Vasculitis ORPHA:375
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Pancreatic squamous cell carcinom... ORPHA:443167
Thrombocytopenia 1
Epistaxis, Bruising susceptibility, Petechiae, Joint hemorrhage OMIM:313900
Fetal Valproate Spectrum Disorder
Omphalocele ORPHA:1906
Glioma Susceptibility 3
Medulloblastoma, Astrocytoma, Glioblastoma multiforme OMIM:613029
Congenital Gerbode Defect
Pedal edema, Systolic heart murmur, Palpitations, Peripheral edema, Elevated right atrial pressur... ORPHA:99095
Dermatitis, Atopic
Facial erythema, Dry skin, Pallor OMIM:603165
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Breast carcinoma, Increased circulating ACTH level, Decreased circulating cortiso... ORPHA:90790
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Kanzaki Disease
Petechiae, Lymphedema, Telangiectasia of the oral mucosa, Lacunar stroke, Angiokeratoma corporis ... OMIM:609242
Optic Atrophy 1
Pallor OMIM:165500
Osteopetrosis, Autosomal Recessive 4
Petechiae OMIM:611490
Acalvaria
Spina bifida, Omphalocele ORPHA:945
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... OMIM:617205
Afibrinogenemia, Congenital
Epidural hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Bruising susceptibilit... OMIM:202400
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Rhabdoid Tumor Predisposition Syndrome 1
Medulloblastoma, Choroid plexus carcinoma OMIM:609322
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Dexamethasone-suppressible primary hyperaldosteronism, Adrenal hyperplasia, A... ORPHA:369929
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Purpura, Acrocyanosis, Erythema, Gastrointestinal hemorrhage, Urticaria ORPHA:343
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... OMIM:619657
American Trypanosomiasis
Congestive heart failure, Pallor, Periorbital edema, Edema, Arrhythmia, Myocarditis, Cardiomyopathy ORPHA:3386
Chikungunya
Cutaneous photosensitivity, Skin vesicle, Pedal edema, Petechiae, Enthesitis, Raynaud phenomenon,... ORPHA:324625
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Omphalocele ORPHA:2141
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Arterial stenosis, Aortic regu... ORPHA:79094
Hereditary Amyloidosis With Primary Renal Involvement
Petechiae, Purpura, Hypertension, Congestive heart failure, Gastrointestinal hemorrhage ORPHA:85450
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Oligohydramnios, Arrhythmia OMIM:617021
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged bleeding time OMIM:614075
Aorta Coarctation
Pulmonary arterial hypertension, Aortic valve atresia, Patent ductus arteriosus, Perimembranous v... ORPHA:1457
Trisomy 1Q
Patent ductus arteriosus, Camptodactyly of finger, Polyhydramnios, Hydrops fetalis, Ventricular s... ORPHA:261344
Gillessen-Kaesbach-Nishimura Syndrome
Polyhydramnios, Flexion contracture, Oligohydramnios, Congenital diaphragmatic hernia, Abnormal h... OMIM:263210
Mirage Syndrome
Patent ductus arteriosus, Intracranial hemorrhage, Petechiae OMIM:617053
Testicular Anomalies With Or Without Congenital Heart Disease
Inguinal hernia, Tetralogy of Fallot OMIM:615542
Immunodeficiency 81
Petechiae OMIM:619374
Autoerythrocyte Sensitization Syndrome
Intracranial hemorrhage, Bruising susceptibility, Ecchymosis, Epistaxis, Edema, Oral cavity bleed... ORPHA:324636
Eosinophilic Granulomatosis With Polyangiitis
Endocarditis, Abnormal pericardium morphology, Transient ischemic attack, Purpura, Congestive hea... ORPHA:183
Indomethacin Embryofetopathy
Hydrops fetalis, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Cardiomyopathy ORPHA:1909
Carpenter Syndrome 1
Patent ductus arteriosus, Ventricular septal defect, Joint contracture of the hand, Camptodactyly... OMIM:201000
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Double outlet right ventricle, Pulmonary insufficiency, Heart murmur, Dilated cardiomyo... ORPHA:2326
Fibrinolytic Defect
Spontaneous hematomas OMIM:134900
X-Linked Ehlers-Danlos Syndrome
Bruising susceptibility, Inguinal hernia, Hernia, Umbilical hernia ORPHA:75497
Pleuropulmonary Blastoma
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma OMIM:601200
Moderate Hemophilia A
Hip contracture, Subcutaneous hemorrhage, Epidural hemorrhage, Abnormal bleeding, Intracranial he... ORPHA:169805
Classical Ehlers-Danlos Syndrome
Incisional hernia, Fragile skin, Cigarette-paper scars, Prolonged bleeding time, Arterial rupture... ORPHA:287
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Poor wound healing, Hemoperitoneum, Subcutaneous hemorrhage, Epidural hemorrhage, Post-partum hem... ORPHA:465
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Chromosome 9P Deletion Syndrome
Patent ductus arteriosus, Ventricular septal defect, Perimembranous ventricular septal defect, He... OMIM:158170
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility OMIM:614200
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Hydrocele testis, Congenital adrenal hyperplasia ORPHA:96181
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Thoracoabdominal Syndrome
Patent ductus arteriosus, Ventral hernia, Anencephaly, Ectopia cordis, Congenital diaphragmatic h... OMIM:313850
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Pericardial effusion, Abnormal bleeding, Bruising susceptibility, Ecchymosis... ORPHA:464329
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre... ORPHA:189427
Deafness-Lymphedema-Leukemia Syndrome
Lymphedema, Intracranial hemorrhage, Bruising susceptibility, Pallor, Prolonged bleeding time ORPHA:3226
Thrombocytopenia 2
Bruising susceptibility OMIM:188000
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Paragangliomas 7
Pheochromocytoma, Paraganglioma OMIM:618475
Li-Fraumeni Syndrome
Acute myeloid leukemia, Neoplasm of the gastrointestinal tract, Neoplasm of the central nervous s... ORPHA:524
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Mitral valve prolapse, Atrophic scars, Bruising susceptibility, Aortic regurgitation, Inguinal he... OMIM:225320
Simple Cryoglobulinemia
Raynaud phenomenon, Purpura, Congestive heart failure, Hypertension, Stroke, Pericarditis, Myocar... ORPHA:91139
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevated circulating... ORPHA:90791
Severe Hemophilia A
Poor wound healing, Persistent bleeding after trauma, Epidural hemorrhage, Intracranial hemorrhag... ORPHA:169802
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis, Bilateral superior vena cava with bridging vein, Wolff-Parkinson-White syndrome, Abnorm... ORPHA:216694
Pentalogy Of Cantrell
Abnormal pericardium morphology, Encephalocele, Ventricular septal defect, Anencephaly, Atrial se... ORPHA:1335
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Subvalvular aortic stenosis, Ventricular septal defect, Pulmonary artery atresia, Secundum atrial... OMIM:108900
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Ventricular septal defect, Hypoplastic left heart, Hypertrophic cardiom... OMIM:616276
Focal Dermal Hypoplasia
Patent ductus arteriosus, Camptodactyly of finger, Diastasis recti, Hernia, Ventricular septal de... ORPHA:2092
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect, T-wave al... OMIM:618782
Immunoglobulin A Vasculitis
Vasculitis, Skin ulcer, Purpura, Bruising susceptibility, Edema, Gastrointestinal hemorrhage, Ery... ORPHA:761
Acute Myelomonocytic Leukemia
Abnormal bleeding, Pallor ORPHA:517
Spontaneous Periodic Hypothermia
Pallor, Arrhythmia ORPHA:29822
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Redundant neck skin, Coa... OMIM:618164
Von Willebrand Disease, Type 1
Persistent bleeding after trauma, Mitral valve prolapse, Bruising susceptibility, Epistaxis, Gast... OMIM:193400
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, ... ORPHA:328
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Common atrium, Atrial septal defect, Inguinal ... OMIM:208530
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Nemaline Myopathy 9
Polyhydramnios, Ventricular septal defect, Arthrogryposis multiplex congenita OMIM:615731
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Pedal edema, Ventricular septal defect, Peripheral arterial stenosis, V... OMIM:126320
Lujo Hemorrhagic Fever
Hypotension, Cerebral edema, Facial edema, Purpura, Subconjunctival hemorrhage, Ecchymosis, Shock... ORPHA:319213
Idiopathic Aplastic Anemia
Epistaxis, Retinal hemorrhage, Gingival bleeding, Ecchymosis ORPHA:88
Congenital Total Pulmonary Venous Return Anomaly
Cyanosis, Supracardiac total anomalous pulmonary venous connection, Pulmonary artery stenosis, Tr... ORPHA:99125
Craniofaciofrontodigital Syndrome
Polyhydramnios, Palmoplantar cutis laxa, Abnormal cerebral vascular morphology, Pericardial effus... ORPHA:363705
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypotension, Hypovolemia, Dehydration ORPHA:168558
Medulloblastoma
Medulloblastoma OMIM:155255
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Bleeding Disorder, Platelet-Type, 18
Bruising susceptibility, Epistaxis, Menorrhagia, Prolonged bleeding time, Prolonged bleeding afte... OMIM:615888
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypotension, Hypovolemia, Dehydration ORPHA:289548
Factor Vii Deficiency
Abnormal bleeding, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Menorrhagia, Prol... OMIM:227500
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Wrist flexion contracture, Polyhydramnios, Flexion contracture, Diastasis recti, Camptodactyly, R... ORPHA:254528
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... OMIM:201810
Congenital Fibrinogen Deficiency
Cyanosis, Subcutaneous hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Left ven... ORPHA:335
Schisis Association
Encephalocele, Spina bifida, Anencephaly, Congenital diaphragmatic hernia, Omphalocele ORPHA:63862
Proximal Renal Tubular Acidosis
Subvalvular aortic stenosis, Enamel hypomineralization, Hypovolemia, Dehydration ORPHA:47159
Bleeding Disorder, Platelet-Type, 20
Epistaxis, Menorrhagia, Bruising susceptibility OMIM:616913
Von Willebrand Disease, Type 2
Epistaxis, Menorrhagia, Bruising susceptibility OMIM:613554
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Abnormal bleeding, Spontaneous hematomas, Menorrhagia OMIM:616176
Hemophilia A
Intracranial hemorrhage, Bleeding with minor or no trauma, Oral cavity bleeding, Joint swelling, ... ORPHA:98878
Isolated Right Ventricular Hypoplasia
Cyanosis, Bidirectional shunt, Systolic heart murmur, Right bundle branch block, Abnormal atriove... ORPHA:439
Autosomal Dominant Coarctation Of Aorta
Patent ductus arteriosus, Aortic arch aneurysm, Abnormal aortic arch morphology ORPHA:1455
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... OMIM:202010
Rare Circulatory System Disease
Cyanosis, Arterial calcification, Elbow flexion contracture, Intermittent claudication, Pallor, A... ORPHA:98028
Familial Focal Epilepsy With Variable Foci
Flushing, Pallor ORPHA:98820
Hyperinsulinism Due To Hnf1A Deficiency
Syncope, Palpitations, Tachycardia, Pallor ORPHA:324575
Bacterial Toxic-Shock Syndrome
Hypotension, Cellulitis, Fasciitis, Ecchymosis, Shock, Scaling skin, Edema, Capillary leak, Myoca... ORPHA:36234
Distal Trisomy 15Q
Camptodactyly of finger, Omphalocele ORPHA:1707
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Lambert Syndrome
Inguinal hernia, Jaundice, Branchial anomaly, Ventricular septal defect ORPHA:1296
Aortic Aneurysm, Familial Thoracic 4
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... OMIM:132900
Lethal Congenital Contracture Syndrome 10
Hydrops fetalis, Ventricular septal defect, Oligohydramnios, Cardiomegaly, Omphalocele, Overridin... OMIM:617022
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Polyhydramnios, Ventricular septal defect, Redundant neck skin, Ar... OMIM:301056
Beta-Thalassemia
Hypertrophic cardiomyopathy, Skin ulcer, Pallor ORPHA:848
Myopathic Ehlers-Danlos Syndrome
Knee flexion contracture, Congenital finger flexion contractures, Foot joint contracture, Flexion... ORPHA:536516
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, Bi... OMIM:613751
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Ventricular septal defect OMIM:617895
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Pericardial effusion, Abnormal left ventricular function, Subdural h... ORPHA:99827
Idiopathic Pulmonary Hemosiderosis
Pallor, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur ORPHA:99931
C Syndrome
Patent ductus arteriosus, Omphalocele, Ventricular septal defect, Cutis laxa OMIM:211750
Juvenile Nephropathic Cystinosis
Hypovolemia, Dehydration ORPHA:411634
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Gastroschisis, Hypoplastic left heart ORPHA:2476
Acquired Von Willebrand Syndrome
Hypotension, Persistent bleeding after trauma, Subcutaneous hemorrhage, Intracranial hemorrhage, ... ORPHA:99147
Myelofibrosis
Purpura, Pallor OMIM:254450
Hemoglobin D Disease
Pallor ORPHA:90039
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v... ORPHA:477817
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Enamel hypoplasia, Polyhydramnios, Ventricular septal defect, Omphalocele, Hematochezia OMIM:243150
Immunodeficiency, Common Variable, 6
Purpura OMIM:613496
Pseudoxanthoma Elasticum
Sudden cardiac death, Retinal hemorrhage, Lack of skin elasticity, Restrictive cardiomyopathy, St... ORPHA:758
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... ORPHA:786
Trigonocephaly 1
Omphalocele OMIM:190440
Congenital Factor Vii Deficiency
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble... ORPHA:327
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Atrioventricular canal defect, Right atrial isomerism, Ascending tubu... OMIM:270100
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility ORPHA:721
Triploidy
Meningocele, Polyhydramnios, Omphalocele, Abnormal cardiac septum morphology ORPHA:3376
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Ventricular septal defect OMIM:614876
Cardiac Valvular Dysplasia 1
Cyanosis, Hypoplasia of right ventricle, Tricuspid regurgitation, Patent foramen ovale, Left aort... OMIM:212093
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure, Pallor ORPHA:90037
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect, Cutis laxa, Congestive heart failure, Aortic regurgitation, Redundant ... OMIM:123700
Timothy Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Prolonged QT interval,... OMIM:601005
Classical-Like Ehlers-Danlos Syndrome Type 1
Mitral valve prolapse, Bruising susceptibility, Spina bifida occulta, Gastrointestinal hemorrhage... ORPHA:230839
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Dextrocardi... OMIM:264480
Glanzmann Thrombasthenia 2
Abnormal bleeding, Bruising susceptibility, Epistaxis, Menorrhagia, Prolonged bleeding time, Prol... OMIM:619267
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Atrial septal defect OMIM:253300
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Truncus Arteriosus
Cyanosis, Truncus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Interrupted a... ORPHA:3384
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Arterial rupture, Atrophic scars, Hernia, Bruising susceptibility ORPHA:300179
Neurooculocardiogenitourinary Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Redundant neck skin, A... OMIM:618652
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
16P13.11 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
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
Caudal Duplication
Spina bifida, Omphalocele, Myelomeningocele ORPHA:1756
Criss-Cross Heart
Cyanosis, Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Supravalv... ORPHA:1461
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Patent ductus arteriosus, Patent foramen ovale, Right ventric... ORPHA:99094
Dyskeratosis Congenita, Autosomal Recessive 8
Petechiae OMIM:620133
Stormorken-Sjaastad-Langslet Syndrome
Purpura ORPHA:3204
Mixed Connective Tissue Disease
Pulmonary arterial hypertension, Purpura, Pericarditis, Xerostomia, Gastrointestinal hemorrhage, ... ORPHA:809
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Systolic heart murmur, Truncus arteriosus, Ventricular septal defect, Interrupted aorti... OMIM:617478
Arterial Tortuosity Syndrome
Aortic tortuosity, Ventricular hypertrophy, Aortic root aneurysm, Flexion contracture, Ischemic s... OMIM:208050
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Omphalocele OMIM:601163
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal mi... ORPHA:1354
Giant platelet syndrome with thrombocytopenia
Bruising susceptibility, Prolonged bleeding after dental extraction, Gastrointestinal hemorrhage OMIM:137560
Short-Rib Thoracic Dysplasia 12
Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Ventricular septal defect, Anence... OMIM:269860
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Ventricular septal defect, Umbilical hernia OMIM:222448
Familial Aortic Dissection
Patent ductus arteriosus, Aortic root aneurysm, Coronary artery atherosclerosis, Descending aorti... ORPHA:229
Autoimmune Hemolytic Anemia
Pallor, Congestive heart failure, Arrhythmia ORPHA:98375
Cutis Marmorata Telangiectatica Congenita
Patent ductus arteriosus, Subcutaneous hemorrhage, Arteriovenous malformation, Purpura, Cutis mar... ORPHA:1556
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Omphalocele, Ventricular septal defect, Atrial septal defect OMIM:145420
Cardiomyopathy, Dilated, 2D
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... OMIM:619371
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect, Cutis marmorata, Portal hypertension, Tricuspid re... OMIM:616589
Factor V Deficiency
Abnormal bleeding, Bruising susceptibility, Epistaxis, Prolonged prothrombin time, Menorrhagia, P... OMIM:227400
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Tran... OMIM:616749
Bilateral Striopallidodentate Calcinosis
Subcutaneous hemorrhage ORPHA:1980
Wiskott-Aldrich Syndrome
Small vessel vasculitis, Petechiae, Large vessel vasculitis, Purpura, Epistaxis, Prolonged bleedi... OMIM:301000
Histiocytoid Cardiomyopathy
Cyanosis, Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Pul... ORPHA:137675
Noonan Syndrome 8
Patent ductus arteriosus, Polyhydramnios, Palmoplantar cutis laxa, Ventricular septal defect, Lef... OMIM:615355
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Noonan Syndrome 12
Supravalvular aortic stenosis, Polyhydramnios, Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Atrial Septal Defect 1
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... OMIM:108800
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... OMIM:614262
Fibrochondrogenesis 1
Patent foramen ovale, Hydrops fetalis, Joint contracture of the hand, Camptodactyly, Stillbirth, ... OMIM:228520
Catel-Manzke Syndrome
Camptodactyly of finger, Ventricular septal defect, Atrial septal defect ORPHA:1388
Ehlers-Danlos Syndrome, Classic-Like, 2
Aortic root aneurysm, Carotid artery stenosis, Ventral hernia, Cellulitis, Mitral valve prolapse,... OMIM:618000
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Mosaic Trisomy 1
Camptodactyly of finger, Polyhydramnios, Ventricular septal defect, Elbow flexion contracture, Co... ORPHA:1692
Bardet-Biedl Syndrome 19
Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal defect, Atrial septal defect OMIM:615996
Developmental Delay With Or Without Dysmorphic Facies And Autism
Pulmonary arterial hypertension, Patent foramen ovale, Patent ductus arteriosus, Ventricular sept... OMIM:618454
Ehlers-Danlos Syndrome, Vascular Type
Hemothorax, Dermal translucency, Descending aortic dissection, Dilatation of the cerebral artery,... OMIM:130050
3Mc Syndrome 1
Patent ductus arteriosus, Diastasis recti, Ventricular septal defect, Atrial septal defect, Abnor... OMIM:257920
Combined Deficiency Of Factor V And Factor Viii
Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged bleeding following circumc... ORPHA:35909
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Distal arthrogryposis, Diastasis recti, Mitral valve prolapse, Scarring, Tricuspid valve prolapse... OMIM:601776
Meacham Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cardiac total anomalous pulmonary venous con... OMIM:608978
Familial Multinodular Goiter
Pilomatrixoma, Pleuropulmonary blastoma, Cerebellar medulloblastoma, Hyperthyroidism, Colorectal ... ORPHA:276399
Varicose Veins
Varicose veins OMIM:192200
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Bilateral su... OMIM:605376
Cushing Disease
Pedal edema, Striae distensae, Capillary fragility, Skin ulcer, Purpura, Hypertension, Bruising s... ORPHA:96253
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating dehydroepiandrosterone-sulfate concentration, Decreased circulating cortiso... ORPHA:95699
Robinow Syndrome, Autosomal Dominant 3
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Hypoplastic right hear... OMIM:616894
Pagod Syndrome
Sudden cardiac death, Meningocele, Abnormal aortic morphology, Encephalocele, Spina bifida, Hypop... ORPHA:991
Congenital Alpha2-Antiplasmin Deficiency
Hemothorax, Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleedin... ORPHA:79
X-Linked Intellectual Disability, Nascimento Type
Pulmonary arterial hypertension, Patent ductus arteriosus, Patent foramen ovale, Double outlet ri... ORPHA:163956
Primary Ciliary Dyskinesia
Double outlet right ventricle, Atrial situs ambiguous, Anomalous pulmonary venous return, Situs i... ORPHA:244
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect OMIM:601322
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Patent ductus arteriosus, Flexion contracture, Ventricular septal defect, Interphalangeal thumb j... OMIM:613870
Kasabach-Merritt Syndrome
Abnormal lymphatic vessel morphology, Purpura, Prolonged prothrombin time, Petechiae ORPHA:2330
Giant Cell Arteritis
Sudden cardiac death, Abdominal aortic aneurysm, Cerebral ischemia, Skin ulcer, Epistaxis, Perica... ORPHA:397
Absence Of The Pulmonary Artery
Cyanosis, Pedal edema, Systolic heart murmur, Truncus arteriosus, Abnormal cardiac septum morphol... ORPHA:980
Fryns Syndrome
Polyhydramnios, Abnormal aortic morphology, Abnormal cardiac septum morphology, Abnormal aortic a... ORPHA:2059
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Cerebral edema, Pallor ORPHA:439218
Chronic Intestinal Pseudoobstruction
Patent ductus arteriosus ORPHA:2978
Scorpion Envenomation
Pulmonary edema, T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, ST s... ORPHA:466677
Opitz Gbbb Syndrome
Patent ductus arteriosus, Patent foramen ovale, Aortic root aneurysm, Ventricular septal defect, ... ORPHA:2745
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Jaundice, Congestive heart failure, Pallor ORPHA:90033
Diamond-Blackfan Anemia 6
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolap... OMIM:612561
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypotension, Dehydration, Shock, Hypovolemia ORPHA:90794
Cinca Syndrome
Edema, Purpura, Urticaria ORPHA:1451
Ehlers-Danlos Syndrome, Classic-Like
Striae distensae, Mitral valve prolapse, Atrophic scars, Increased connective tissue, Bruising su... OMIM:606408
Q Fever
Endocarditis, Pericardial effusion, Purpura, Pericarditis, Pleural effusion, Abnormal left ventri... ORPHA:781
Chromosome 10Q26 Deletion Syndrome
Patent ductus arteriosus, Omphalocele, Atrial septal defect OMIM:609625
Vacterl/Vater Association
Polyhydramnios, Abnormal cardiac septum morphology, Anencephaly, Congenital diaphragmatic hernia,... ORPHA:887
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Esophageal carcinoma, Thyroid nodule, Papillary thyroid carcinoma, Brea... ORPHA:247806
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Renal artery aneurysm, Raynaud phenomenon, Skin ulcer, Dilated cardiomyopathy, Hypertension, Purp... OMIM:615688
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Fanconi Anemia, Complementation Group I
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Pallor OMIM:609053
Isolated Anencephaly
Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Maternal Phenylketonuria
Double outlet right ventricle, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... ORPHA:2209
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Hemophilia A
Muscle hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Joint hemorrhage OMIM:306700
Cutis Laxa, Autosomal Recessive, Type Ia
Ascending tubular aorta aneurysm, Cutis laxa, Vascular tortuosity, Oligohydramnios, Supravalvular... OMIM:219100
Atrioventricular septal defect 3
Pulmonary arterial hypertension, Cyanosis, Atrioventricular canal defect, Inlet ventricular septa... OMIM:600309
Slc35A1-Cdg
Pulmonary hemorrhage, Cellulitis, Subcutaneous hemorrhage, Abnormal bleeding, Prolonged bleeding ... ORPHA:238459
Von Willebrand Disease, Type 3
Persistent bleeding after trauma, Abnormal bleeding, Bruising susceptibility, Epistaxis, Menorrha... OMIM:277480
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Neoplasm of the heart, Polyhydramnios, Omphalocele, Umbilical hernia ORPHA:2241
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Esophageal Atresia
Cyanosis, Polyhydramnios, Ventricular septal defect, Coarctation of aorta, Pallor, Omphalocele, T... ORPHA:1199
Specc1L-Related Hypertelorism Syndrome
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Arrhythmia, Omphalocel... ORPHA:1519
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Congenital diaphragmatic hernia, Ventricular septal defect OMIM:615524
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Omphalocele, Prune belly OMIM:601389
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect OMIM:614886
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:276621
Pericardial And Diaphragmatic Defect
Patent ductus arteriosus, Mitral stenosis, Bicuspid aortic valve, Partial diaphragmatic absence o... ORPHA:2847
Bladder Exstrophy
Bladder exstrophy, Inguinal hernia, Omphalocele, Umbilical hernia ORPHA:93930
Melnick-Needles Syndrome
Omphalocele, Abnormal cardiac septum morphology ORPHA:2484
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Pallor OMIM:615631
Down Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Patent foramen ovale, Double outlet righ... OMIM:190685
Congenital Dyserythropoietic Anemia Type Iii
Post-partum hemorrhage, Pallor, Oral cavity bleeding, Gingival bleeding, Melena ORPHA:98870
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Arterial rupture, Poor wound healing, Bruising susceptibility, Dermal translucency OMIM:619120
Retinitis Pigmentosa 51
Pallor OMIM:613464
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Bruising susceptibility, Epistaxis, Myocardial infarction, Menorrhagia, Prolon... OMIM:155100
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect OMIM:616277
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Omphalocele, Ventral hernia, Camptodactyly OMIM:618529
Polymerase Proofreading-Related Adenomatous Polyposis
Breast carcinoma, Colorectal polyposis, Adenocarcinoma of the colon, Neoplasm of the rectum, Brai... ORPHA:447877
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Abnormal aortic morphology, Tetralogy of Fallot, Ventricular sep... ORPHA:1166
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Congestive heart failure, Pallor ORPHA:75564
Microscopic Polyangiitis
Subcutaneous hemorrhage, Skin ulcer, Congestive heart failure, Cutis marmorata, Pericarditis, Epi... ORPHA:727
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v... OMIM:616652
Alg9-Cdg
Hydrops fetalis, Ventricular septal defect, Pericardial effusion, Abnormal left ventricular outfl... ORPHA:79328
Meckel Syndrome, Type 2
Meningocele, Omphalocele, Anencephaly, Encephalocele OMIM:603194
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Truncus arteriosus, Ventricular septal defect OMIM:601355
Holt-Oram Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular ... ORPHA:392
Constricting Bands, Congenital
Encephalocele, Gastroschisis, Ectopia cordis, Bladder exstrophy, Omphalocele OMIM:217100
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Omphalocele, Oligohydramnios ORPHA:1834
Attenuated Chédiak-Higashi Syndrome
Epistaxis, Skin ulcer, Gingival bleeding, Bruising susceptibility ORPHA:352723
Bleeding Disorder, Platelet-Type, 12
Bruising susceptibility, Epistaxis, Intestinal bleeding, Menorrhagia, Joint hemorrhage OMIM:605735
Trisomy 18
Camptodactyly of finger, Hernia, Ventricular septal defect, Spina bifida, Anencephaly, Atrial sep... ORPHA:3380
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Anencephaly, Congenital diaphragmatic hernia, Sirenomelia, C... ORPHA:63260
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect, Keloids ORPHA:357225
Xk Aprosencephaly Syndrome
Polyhydramnios, Ventricular septal defect, Atrial septal defect ORPHA:3469
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Pulmonary artery atresi... OMIM:612946
Bleeding Disorder, Platelet-Type, 22
Excessive bleeding from superficial cuts, Subcutaneous hemorrhage OMIM:618462
Cushing Syndrome Due To Ectopic Acth Secretion
Pituitary corticotropic cell adenoma, Atypical pulmonary carcinoid tumor, Adrenal hyperplasia, Pa... ORPHA:99889
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Ventricular septal defect, Dilated cardiomyopathy, Edema, Arthrogryposis multiple... OMIM:607598
Eisenmenger Syndrome
Cyanosis, Atrioventricular canal defect, Pedal edema, Aortopulmonary window, Ventricular arrhythm... ORPHA:97214
Weill-Marchesani Syndrome
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:617044
Leishmaniasis
Skin ulcer, Abnormal bleeding, Pallor ORPHA:507
Ehlers-Danlos Syndrome, Periodontal Type, 1
Palmoplantar cutis laxa, Atrophic scars, Bruising susceptibility, Prominent superficial veins, Fr... OMIM:130080
22Q11.2 Deletion Syndrome
Meningocele, Polyhydramnios, Truncus arteriosus, Retinal arteriolar tortuosity, Abnormal aortic a... ORPHA:567
Wolcott-Rallison Syndrome
Double outlet right ventricle, Jaundice, Atrial septal defect, Dehydration, Ascites ORPHA:1667
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hernia, Cutis marmorata, Ventricular septal defect OMIM:602501
Cardiomyopathy, Dilated, 1S
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... OMIM:613426
Granulomatosis With Polyangiitis
Cerebral ischemia, Skin ulcer, Purpura, Angina pectoris, Hypertension, Periorbital edema, Pericar... ORPHA:900
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Anomalous pulmonary venous return, Tetralogy of Fallot, Hernia of the a... ORPHA:2184
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric... OMIM:618901
Li-Campeau Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:619189
Miller-Dieker Lissencephaly Syndrome
Polyhydramnios, Joint contracture of the hand, Camptodactyly, Abnormality of the abdominal wall, ... OMIM:247200
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Abnormal bleeding, Hematochezia, Edema ORPHA:329971
Holoprosencephaly
Abnormal aortic morphology, Spinal dysraphism, Encephalocele, Branchial anomaly, Ventricular sept... ORPHA:2162
Trigonocephaly With Short Stature And Developmental Delay
Inguinal hernia, Ventricular septal defect OMIM:314320
Refractory Anemia With Excess Blasts
Retinal hemorrhage, Pedal edema, Abnormal bleeding, Palpitations, Anemic pallor ORPHA:86839
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... OMIM:610338
Colonic Atresia
Omphalocele, Gastroschisis ORPHA:1198
Codas Syndrome
Enamel hypoplasia, Atrioventricular canal defect, Polyhydramnios, Ventricular septal defect, Atri... OMIM:600373
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Atrial septal defect, Situs inversus totalis, Arrhythmia, Stroke, Card... OMIM:249270
Kawasaki Disease
Palmoplantar erythema, Ascending tubular aorta aneurysm, Jaundice, Double outlet right ventricle ... ORPHA:2331
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect OMIM:618330
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Inguinal hernia, Ventricular septal defect ORPHA:3369
Osteopathia Striata With Cranial Sclerosis
Patent ductus arteriosus, Polyhydramnios, Ventricular septal defect, Joint contracture of the han... OMIM:300373
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia... OMIM:618780
Hereditary Hemorrhagic Telangiectasia
Pulmonary arterial hypertension, Pulmonary embolism, Mucosal telangiectasiae, Cerebral hemorrhage... ORPHA:774
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Abnormal aortic morphology, Hydrops fetalis, Ventricular septal defect, Abnormal ... ORPHA:3405
Rin2 Syndrome
Aortic aneurysm, Bruising susceptibility, Redundant skin, Upper eyelid edema, Umbilical hernia ORPHA:217335
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Perianal erythema, Ectodermal dysplasia, Hydromyelia, Hypertension, Corneal neovascularization, A... OMIM:308205
Hermansky-Pudlak Syndrome 3
Spontaneous, recurrent epistaxis, Abnormal bleeding, Gingival bleeding, Bruising susceptibility OMIM:614072
Ehlers-Danlos Syndrome, Classic Type, 1
Aortic root aneurysm, Mitral valve prolapse, Bruising susceptibility, Fragile skin, Inguinal hern... OMIM:130000
Dravet Syndrome
Cyanotic episode, Pallor ORPHA:33069
Manitoba Oculotrichoanal Syndrome
Omphalocele OMIM:248450
Marshall-Smith Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus, Ventricular septal defect, Dysplastic ... OMIM:602535
Meacham Syndrome
Patent ductus arteriosus, Conotruncal defect, Ventricular septal defect, Atrial septal defect, Co... ORPHA:3097
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Polyhydramnios, Aplasia/Hypoplasia of the abdominal wall musculature, Ve... ORPHA:373
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pulmonary arterial hypertension, Mitral valve calcification, Bacterial endocarditis, Spontaneous,... ORPHA:2072
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic root aneurysm, Pulmonary insufficiency, Mitral valve prolapse, Atrophic scars, Left ventri... ORPHA:230851
Shigellosis
Purpura, Hypovolemic shock, Dehydration, Myocarditis, Urticaria ORPHA:810
Hereditary Spherocytosis
Jaundice, Restrictive cardiomyopathy, Skin ulcer, Pallor ORPHA:822
Ogden Syndrome
Ventricular septal defect, Cutis laxa, Cardiogenic shock, Inguinal hernia, Pulmonary artery steno... ORPHA:276432
Hermansky-Pudlak Syndrome 7
Post-partum hemorrhage, Bruising susceptibility, Epistaxis, Menorrhagia, Prolonged bleeding time,... OMIM:614076
Beta-Ketothiolase Deficiency
Hypotension, Hypertension, Pallor, Edema, Dehydration ORPHA:134
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, P... ORPHA:401935
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Omphalocele ORPHA:95706
3-Hydroxy-3-Methylglutaric Aciduria