Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
fibulin 1
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Fbln1 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 Fbln1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Congenital bilateral hip dislocation, Cryptorchidism ORPHA:404451
Synpolydactyly 2
Tarsal synostosis, Metatarsal synostosis, Metacarpal synostosis, Carpal synostosis OMIM:608180

The table below shows human diseases predicted to be associated to Fbln1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Atrial Septal Defect 4
Coarctation of aorta, Atrial septal defect, Patent foramen ovale OMIM:611363
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... OMIM:613854
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:212090
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Aneurysm Of Interventricular Septum
Vascular dilatation, Abnormal ventricular septum morphology OMIM:105805
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Genitopalatocardiac Syndrome
Right aortic arch, Transposition of the great arteries, Double outlet right ventricle, Ventricula... OMIM:231060
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Wide nasal bridge, Macrotia, Tetralogy of Fallot, Recurrent otitis media, Micrognathia, Cyanosis,... ORPHA:3304
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... OMIM:618496
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Microretrognathia, Secund... OMIM:616866
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Low-set ears, Flared nostrils, Dilated cardiomyopathy, Retrognathia, Premature graying of hair, M... ORPHA:280679
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Low-set ears, Small hand, Elevated circulating luteinizing hormone level, Premature graying of ha... OMIM:300845
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Low-set ears, Carious teeth, Natal tooth, Atresia of the external auditory canal, Bilateral condu... OMIM:620186
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Primum atrial septal defect, Abnormal cardiac atrium ... ORPHA:1329
Sneddon Syndrome
Livedo, Lymphopenia, Cutis marmorata, Ischemic stroke, Livedo racemosa, Stroke, Bicuspid aortic v... OMIM:182410
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Dislocation Of The Hip-Dysmorphism Syndrome
Wide nasal bridge, Depressed nasal ridge, Congenital hip dislocation, Anteverted nares, Abnormal ... ORPHA:2412
Primary Pulmonary Hypoplasia
Low-set ears, Abnormal pulmonary artery morphology, Secundum atrial septal defect, Abnormal hemid... ORPHA:2257
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... OMIM:620203
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Acute Promyelocytic Leukemia
Gingival bleeding, Epistaxis, Diffuse alveolar hemorrhage, Abnormal bleeding, Bruising susceptibi... ORPHA:520
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus arteriosus, Vasc... OMIM:601927
Agnathia-Otocephaly Complex
Low-set ears, Secundum atrial septal defect, Conductive hearing impairment, Respiratory distress,... OMIM:202650
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect DECIPHER:39
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Low-set ears, Retrognathia, Camptodactyly of finger, Atrioventricular canal defect, Bulbous nose,... ORPHA:3047
Recombinant Chromosome 8 Syndrome
Low-set ears, Depressed nasal bridge, Joint contracture of the hand, Hearing impairment, Tetralog... OMIM:179613
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Monosomy 18Q
Aortic valve stenosis, Bilateral conductive hearing impairment, Mitral regurgitation, Sensorineur... ORPHA:1600
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Hypoplastic scapulae, Hearing impairment, Micrognathia, Single ventricle, Thyroid hypop... OMIM:308050
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Distal amyotrophy, Abnormal heart morphology, Decreased nerve conduction velocity, Foot dorsiflex... ORPHA:477817
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Low-set ears, Bifid nasal tip, Broad nasal tip, Secundum atrial septal defect, Retrognathia, Umbi... OMIM:619758
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide nasal bridge, Cholelithiasis, Prominent nose, Prominence of the premaxilla, Double outlet ri... OMIM:614886
Familial Cervical Artery Dissection
Dilatation of the cerebral artery, Striae distensae, Transient ischemic attack, Cerebral ischemia... ORPHA:36382
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Glossopharyngeal Neuralgia
Cranial nerve compression, Schwannoma, Abnormal glossopharyngeal nerve morphology, Ear pain, Sync... ORPHA:221098
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... OMIM:115197
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Spontaneous... ORPHA:853
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Pleural effusion, Petechiae, Bradycardia, Abnormal renal corticome... OMIM:617397
Long-Olsen-Distelmaier Syndrome
Low-set ears, Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, De... OMIM:620609
Pseudo-Torch Syndrome 1
Low-set ears, Microretrognathia, Umbilical hernia, Anteverted nares, Petechiae, Patent foramen ov... OMIM:251290
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Low-set ears, Short 5th finger, Secundum atrial septal defect, Short 2nd finger, Ventricular sept... OMIM:600987
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:249670
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Low-set ears, Conductive hearing impairment, Short toe, Short 5th metacarpal, 11 pairs of ribs, A... OMIM:617877
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Low-set ears, Depressed nasal bridge, Secundum atrial septal defect, Dilation of Virchow-Robin sp... OMIM:619951
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Primary Myelofibrosis
Abnormal bleeding, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hyperte... ORPHA:824
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... OMIM:108800
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Dental malocclusion, Retrognathia, Hearing impairment, Abnormal heart morphology, ... ORPHA:363444
Marshall-Smith Syndrome
Low-set ears, Hypoplasia of the odontoid process, Bilateral conductive hearing impairment, Hearin... OMIM:602535
Lethal Congenital Contracture Syndrome 10
Low-set ears, Increased variability in muscle fiber diameter, Micrognathia, Ventricular septal de... OMIM:617022
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran... OMIM:314050
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... ORPHA:185
Pontocerebellar Hypoplasia, Type 17
Microretrognathia, Secundum atrial septal defect, Kyphosis, Ventricular septal defect, Limb hyper... OMIM:619909
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Petechiae, Splenomegaly, ... OMIM:620296
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Gaucher Disease, Perinatal Lethal
Low-set ears, Depressed nasal bridge, Pulmonary hypoplasia, Retrognathia, Respiratory distress, H... OMIM:608013
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Low-set ears, Depressed nasal bridge, Tetralogy of... OMIM:220210
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Low-set ears, Erythema, Arthrogryposis multiplex congenita, Recurrent otitis media, Dry skin, Hep... OMIM:619503
Congenital Sialidosis Type 2
Low-set ears, Optic atrophy, Hearing impairment, Cherry red spot of the macula, Abnormal heart mo... ORPHA:93400
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Secundum atrial septal defect, Hyperplasia of the maxilla, Prominent nose, Micrognathia, Recurren... OMIM:620194
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... ORPHA:1330
Ogden Syndrome
Low-set ears, Flared nostrils, Facial wrinkling, Torsade de pointes, Recurrent otitis media, Dela... OMIM:300855
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Autoimmune Lymphoproliferative Syndrome, Type Iia
Vasculitis, Gastrointestinal hemorrhage, Nephritis, Chronic noninfectious lymphadenopathy, Petech... OMIM:603909
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
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Acitretin/Etretinate Embryopathy
Hypoplastic nasal septum, Cupped ear, Third degree atrioventricular block, Atrioventricular canal... ORPHA:40366
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... OMIM:618845
Prolidase Deficiency
Recurrent pneumonia, Skin ulcer, Failure to thrive, Petechiae, Splenomegaly, Diffuse telangiectas... OMIM:170100
Snijders Blok-Campeau Syndrome
Low-set ears, Wide nasal bridge, Umbilical hernia, Prominent nose, Taurodontia, Perimembranous ve... OMIM:618205
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Low-set ears, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Patent ductus arte... OMIM:618316
Birk-Aharoni Syndrome
Hearing impairment, Long nasal bridge, Muscular ventricular septal defect, Micrognathia, Cryptorc... OMIM:620071
Congenital Gerbode Defect
Holosystolic murmur, Ventricular septal defect, Elevated jugular venous pressure, Right atrial en... ORPHA:99095
Congenital Syphilis
Hearing impairment, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Hepatosplenomegaly,... ORPHA:499009
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Carious teeth, Arteriovenous malformation, Hypoplasia of the zyg... ORPHA:1110
Chromosome 9P Deletion Syndrome
Low-set ears, Choanal atresia, Wide nasal bridge, Depressed nasal bridge, Prominent antihelix, Re... OMIM:158170
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal form of the vertebral bodies, Pan... ORPHA:464329
Sotos Syndrome
Low-set ears, Depressed nasal bridge, Broad nasal tip, Conductive hearing impairment, Enlarged na... OMIM:117550
Periventricular Nodular Heterotopia 1
Short finger, Stroke, Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus OMIM:300049
Double Outlet Right Ventricle
Hypoplastic left heart, Depressed nasal bridge, Pulmonary artery atresia, Aplasia/Hypoplasia of t... ORPHA:3426
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Conductive hearing impairment, Sinus tachycardia, Congestive hear... ORPHA:94080
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Abnormal lung lobation, Low-set, posteriorly rotated ears, Umbilica... ORPHA:2166
Immune Dysregulation, Autoimmunity, And Autoinflammation
Gingival bleeding, Epistaxis, Cervical lymphadenopathy, Inguinal lymphadenopathy, Petechiae, Ecch... OMIM:620514
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Diamond-Blackfan Anemia 7
Choanal atresia, Small hypothenar eminence, Secundum atrial septal defect, Hearing impairment, At... OMIM:612562
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Abnormal mitral valve m... ORPHA:1354
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hearing impairment, Lymphopenia, Hepatosplenomegaly, Mitral regurgitation, Myopathy, Sensorineura... OMIM:612541
Congenital Heart Defects, Multiple Types, 3
Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal... OMIM:614954
Wiskott-Aldrich Syndrome
Gingival bleeding, Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia... ORPHA:906
Mirage Syndrome
Microphallus, Aspiration pneumonia, Lymphopenia, Leukopenia, Decreased testicular size, Adrenal i... OMIM:617053
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Second degree atrioventricular block, Increased mean corpuscular volume, Extramedullary hematopoi... OMIM:617021
Intellectual Developmental Disorder, Autosomal Dominant 66
Low-set ears, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great art... OMIM:619910
Congenital Factor Xiii Deficiency
Gingival bleeding, Poor wound healing, Prolonged bleeding after dental extraction, Abnormal umbil... ORPHA:331
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormal peripheral nervous system morphology, Hematochezia, Gastrointestinal hemorrhage, Diffuse... ORPHA:464321
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Tachypnea, Singl... ORPHA:3384
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear... ORPHA:3400
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Interatrial Communication
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... ORPHA:1478
Intellectual Developmental Disorder, Autosomal Recessive 72
Low-set ears, Wide nasal base, Broad nasal tip, Secundum atrial septal defect, Prominent nose, Wi... OMIM:618665
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Recurrent lower respiratory tract infecti... OMIM:619170
Congenital Disorder Of Glycosylation, Type Iie
Low-set ears, Secundum atrial septal defect, Retrognathia, Skeletal muscle atrophy, Congestive he... OMIM:608779
Fucosidosis
Low-set ears, Hearing impairment, Cherry red spot of the macula, Dry skin, Angiokeratoma, Beaking... OMIM:230000
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Decreased body weight, Hematuria, Pulmonary edema, Glomerulonephritis, Tu... ORPHA:340
Thrombocytopenia 5
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Bruising susceptibi... OMIM:616216
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Stage 5 chronic kidney disease, Abnormal B cell count, Hydronephrosis, Glo... OMIM:613496
Sandestig-Stefanova Syndrome
Low-set ears, Wide nasal bridge, Retrognathia, Muscular ventricular septal defect, Underdeveloped... OMIM:618804
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Wide nasal bridge, Carious teeth, Multiple muscular ventricular septal defects, Micrognathia, Dea... OMIM:620070
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Acute kidney inj... ORPHA:449285
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Skeletal muscle atrophy, Sensorineural hearing impairment, Coarcta... OMIM:614300
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Microcytic anemia, Gastrointesti... ORPHA:903
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Cutis Laxa, Autosomal Recessive, Type Ib
Low-set ears, Aortic root aneurysm, Generalized arterial tortuosity, Micrognathia, Congenital dia... OMIM:614437
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec... OMIM:619371
Treacher-Collins Syndrome
Wide nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Conductive hearing impairment, Hyp... ORPHA:861
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Polysplenia, Situs inversus totalis, Right aortic arch, Patent foramen ovale... OMIM:620642
Frank-Ter Haar Syndrome
Low-set ears, Delayed cranial suture closure, Micrognathia, Mitral valve prolapse, Ventricular se... OMIM:249420
Evans Syndrome
Epistaxis, Bruising susceptibility, Pallor, Petechiae, Autoimmune hemolytic anemia, Syncope, Neut... ORPHA:1959
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Respiratory distress, Micrognathia, Myopathy, Type 1 fibers relatively sm... OMIM:300580
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... OMIM:618734
Primary Ciliary Dyskinesia
Hearing impairment, Atrial situs ambiguous, Recurrent otitis media, Pulmonary situs ambiguus, Chr... ORPHA:244
Cardiomyopathy, Dilated, 2J
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept... OMIM:620635
Oligomeganephronia
Secundum atrial septal defect, Hearing impairment, Optic disc coloboma, Branchial cyst, Micrognat... ORPHA:2260
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect, Decreased proportion of CD8-positive T cells, Decreased proportion... OMIM:611926
Aica-Ribosiduria Due To Atic Deficiency
Low-set ears, Optic atrophy, Secundum atrial septal defect, Anteverted nares, Prominent nasal bri... OMIM:608688
Biliary, Renal, Neurologic, And Skeletal Syndrome
Low-set ears, Unbalanced atrioventricular canal defect, Hearing impairment, Ventricular septal de... OMIM:619534
Intellectual Developmental Disorder, Autosomal Recessive 65
Secundum atrial septal defect, Supernumerary nipple, Bulbous nose, Prominent nasal bridge, Crypto... OMIM:618109
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Primum atrial septal defect, Polysplenia, Situs inversus totalis, Partial atrioventricular canal ... OMIM:619608
Alg12-Cdg
Abnormal peripheral nervous system morphology, Biventricular hypertrophy, Micrognathia, Cryptorch... ORPHA:79324
Cryoglobulinemic Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Skin ulcer, Cutis marmorata... ORPHA:91138
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Cutis marmorata, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid ... ORPHA:91387
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:615297
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Hypopituitarism, Ischemic stroke, Cerebral ischemia, Abnorma... ORPHA:90065
Congenital Disorder Of Glycosylation, Type Ih
Low-set ears, Decreased circulating T4 concentration, Cryptorchidism, Death in infancy, Neonatal ... OMIM:608104
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent pneumonia, Secundum atrial septal defect,... OMIM:614868
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... ORPHA:1457
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Arterial stenosis, Stroke, Cerebra... ORPHA:136
Arboleda-Tham Syndrome
Low-set ears, Enlarged proximal interphalangeal joints, Recurrent otitis media, Underdeveloped tr... OMIM:616268
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Complement Component 4A Deficiency
Vasculitis, Cutaneous photosensitivity, Purpura, Glomerulonephritis OMIM:614380
Dural Sinus Malformation
Myelopathy, Subdural hemorrhage, Abnormal facial vein morphology, Stroke, Subarachnoid hemorrhage... ORPHA:97339
Pallister-Hall Syndrome
Natal tooth, Atresia of the external auditory canal, Auricular tag, Hypopituitarism, Central adre... ORPHA:672
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Anemia, M... OMIM:187800
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hearing impairment, Thoracic hemivertebrae, Micrognathia, Ventricular septal defect, Bicuspid aor... ORPHA:508498
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Mitral... OMIM:225250
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Low-set ears, Retrognathia, Hearing impairment, Large earlobe, Leukopenia, Butterfly vertebrae, C... OMIM:301056
22Q11.2 Deletion Syndrome
Low-set ears, Carious teeth, Hearing impairment, Micrognathia, Cryptorchidism, Ventricular septal... ORPHA:567
Meningococcal Meningitis
Hypotension, Hearing impairment, Shock, Petechiae, Stroke, Increased circulating procalcitonin co... ORPHA:33475
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Sepsis In Premature Infants
Hypotension, Oliguria, Abnormal bleeding, Reversible renal failure, Petechiae, Pallor, Cyanosis, ... ORPHA:90051
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp... ORPHA:85450
Catel-Manzke Syndrome
Camptodactyly of finger, Low-set, posteriorly rotated ears, Micrognathia, Malar flattening, Ventr... ORPHA:1388
Cutaneous Collagenous Vasculopathy
Erythema, Bruising susceptibility, Vascular skin abnormality, Petechiae, Diffuse telangiectasia, ... ORPHA:280779
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Heterotaxy, Visceral, 1, X-Linked
Low-set ears, Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocar... OMIM:306955
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cryptorchidism, Tricuspid regurgitation, Bulbous nose, Cerebral hemorrhage, Posteriorly rotated e... OMIM:620371
Down Syndrome
Type II diabetes mellitus, Acute megakaryocytic leukemia, Ventricular septal defect, Neutrophilia... ORPHA:870
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Skeletal muscle atrophy, Subdural hemorrhage, Inc... OMIM:620278
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Sensory axonal neuropathy, Hypertrophic cardiomyopathy, Facial dip... OMIM:619121
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Type I diabetes mellitus, Carpal osteolysis, Abnormal form of the vertebr... ORPHA:371428
Diamond-Blackfan Anemia 21
Aortic regurgitation, Low-set ears, Secundum atrial septal defect, Short toe, Cutis marmorata, Mi... OMIM:620072
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Joint hemorrhage, Abnormal bleeding, Subdural hem... ORPHA:169805
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Abnormal bleeding, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepat... OMIM:612840
Hatipoglu Immunodeficiency Syndrome
Poor wound healing, Failure to thrive, Premature graying of hair, Dry skin, Pancytopenia, Petechi... OMIM:620331
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu... OMIM:616749
Skraban-Deardorff Syndrome
Depressed nasal bridge, Hyperplasia of the maxilla, Recurrent otitis media, Anteverted nares, Mic... OMIM:617616
Aicardi-Goutieres Syndrome 1
Vasculitis, Erythema, Cardiomyopathy, Petechiae, Splenomegaly, Hypothyroidism, Thrombocytopenia, ... OMIM:225750
Carpenter Syndrome 1
Low-set ears, Lambdoidal craniosynostosis, Joint contracture of the hand, Shallow acetabular foss... OMIM:201000
Uruguay Faciocardiomusculoskeletal Syndrome
Low-set ears, Ventricular hypertrophy, Joint contracture of the hand, Hyperplasia of the maxilla,... OMIM:300280
Bernard-Soulier Syndrome
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Spont... ORPHA:274
Drug-Induced Lupus Erythematosus
Petechiae, Hematuria, Anemia, Thrombocytopenia, Pericardial effusion, Prolonged QTc interval, Per... ORPHA:231111
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect OMIM:614475
Dengue Fever
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ... ORPHA:99828
Pseudo-Torch Syndrome 3
Lymphadenitis, Apnea, Leukocytosis, Death in infancy, Cardiomegaly, Congenital thrombocytopenia, ... OMIM:618886
Abetal34V Amyloidosis
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324703
Encephalopathy, Ethylmalonic
Failure to thrive, Petechiae, Death in infancy, Acrocyanosis, Ethylmalonic aciduria OMIM:602473
Charge Syndrome
Low-set ears, Lymphopenia, Micrognathia, Cryptorchidism, Ventricular septal defect, Sensorineural... OMIM:214800
Factor Xiii, B Subunit, Deficiency Of
Abnormal bleeding, Bruising susceptibility, Ecchymosis, Abnormal umbilical stump bleeding, Prolon... OMIM:613235
Apert Syndrome
Lambdoidal craniosynostosis, Synostosis of carpal bones, Hearing impairment, Delayed cranial sutu... OMIM:101200
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Bruising susceptibility, Acanthocytosis, Petechiae, Anemia of inadequate production, P... OMIM:300367
Aortic Valve Disease 2
Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, C... OMIM:614823
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:613780
Kyphoscoliotic Ehlers-Danlos Syndrome
Low-set ears, Poor wound healing, Hearing impairment, Micrognathia, Myopathy, Sensorineural heari... ORPHA:536545
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect, Notched primary central incisor, Low-set ears, Hydrocele testis OMIM:620062
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Bruising susceptibility, Recurrent respiratory infec... ORPHA:3226
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr... OMIM:208530
Boutonneuse Fever
Vasculitis, Cervical lymphadenopathy, Leukopenia, Renal insufficiency, Petechiae, Lymphadenopathy... ORPHA:83313
Kagami-Ogata Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Pulmonary hypoplasia, Retrognathia, Anteverted... OMIM:608149
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Congestive heart failure, Pallor, Ventricular septal defect, Paroxysmal atrial tac... ORPHA:49827
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Depressed nasal bridge, Skeletal muscle atrophy, Secundum atrial septal defect, Prominent antihel... OMIM:615802
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Mitral valve prolapse, Angin... OMIM:177850
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia, Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Wide nasal bridge, Delayed eruption of permanent teeth, Congenital hypothyroidism, Vertebrobasila... ORPHA:521445
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Delayed cranial suture closure, Hypopituitarism, Decreased circulati... ORPHA:226307
Bilateral Polymicrogyria
Low-set ears, Central hypothyroidism, Micrognathia, Facial diplegia, Abnormal glossopharyngeal ne... ORPHA:268940
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Increased RBC... OMIM:187900
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage OMIM:603284
Portal Hypertension, Noncirrhotic, 2
Epistaxis, Portal hypertension, Petechiae, Splenomegaly, Ecchymosis, Thrombocytopenia OMIM:619463
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Tachypnea, Single ventricle, Patent ductus arte... ORPHA:2299
Tick-Borne Encephalitis
Skeletal muscle atrophy, Hearing impairment, Vertigo, Leukopenia, Abnormal cranial nerve morpholo... ORPHA:297
Hypophosphatasia, Infantile
Nephrocalcinosis, Phosphoethanolaminuria, Recurrent respiratory infections, Failure to thrive, Ap... OMIM:241500
Hoxha-Aliu Syndrome
Low-set ears, Abnormal vertebral morphology, Absent fifth metatarsal, Atrial septal defect, Uplif... OMIM:620662
Wyburn-Mason Syndrome
Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ... ORPHA:53719
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Striae distensae, Petechiae, Bruising susceptibility, Mitral valve prolapse OMIM:225310
Simple Cryoglobulinemia
Cold urticaria, Chronic lymphatic leukemia, Weight loss, Nephrotic syndrome, Purpura, Vasculitis,... ORPHA:91139
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Depressed nasal bridge, Increased c... ORPHA:90674
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Wide nasal bridge, Broad nasal tip, Retrognathia, Micrognathia, Congenit... OMIM:615524
Brachytelephalangic Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Ventricular septal defect, Tachypnea, Atrial septal defect, Paten... ORPHA:79345
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Peroxisome Biogenesis Disorder 2A (Zellweger)
Joint contracture of the hand, Abnormal helix morphology, Abnormal heart morphology, Apnea, Micro... OMIM:214110
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Persistent fetal circulat... ORPHA:363705
Sneddon Syndrome
Nephropathy, Vascular skin abnormality, Arterial stenosis, Cutis marmorata, Intracranial hemorrha... ORPHA:820
Bleeding Disorder, Platelet-Type, 8
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Persistent bleeding after trau... OMIM:609821
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect, Increased serum... OMIM:618901
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Thoracic aortic aneurysm, Dextrotransposition of the gr... OMIM:619657
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Prolonged bleeding following circumcisi... ORPHA:169802
Laubry-Pezzi Syndrome
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Palpitations... ORPHA:99094
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Prolonged bleeding time,... OMIM:614201
Familial Hemophagocytic Lymphohistiocytosis
Bruising susceptibility, Hemophagocytosis, Petechiae, Splenomegaly, Ecchymosis, Lymphadenopathy, ... ORPHA:540
Methanol Poisoning
Type I diabetes mellitus, Inflammatory arteriopathy, Permanent atrial fibrillation, Type II diabe... ORPHA:31825
Rubinstein-Taybi Syndrome 1
Low-set ears, Hearing impairment, Delayed cranial suture closure, Micrognathia, Cryptorchidism, M... OMIM:180849
Fanconi Anemia, Complementation Group Q
Low-set ears, Bone marrow hypocellularity, Absent thumb, Primum atrial septal defect OMIM:615272
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Conductive hearing impairment, Sinus tachycardia, Congestive hear... ORPHA:276621
Tufted Angioma
Anemia, Purpura, Petechiae, Thrombocytopenia ORPHA:1063
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Elbow dislocation, Micrognathia, Atrioventricular dissociati... OMIM:142900
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Gingival bleeding, Epistaxis, Stomatocytosis, Bruising susceptibility, Prolonged bleeding after d... OMIM:153670
Cutis Laxa, Autosomal Recessive, Type Ic
Micrognathia, Death in childhood, Vascular dilatation, Wide nasal bridge, Peripheral pulmonary ar... OMIM:613177
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong... OMIM:613426
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Aspiration pneumonia, Respiratory distress, Temporomandibular join... ORPHA:141152
Pancreatic And Cerebellar Agenesis
Low-set ears, Secundum atrial septal defect, Pancreatic hypoplasia, Pancreatic aplasia, Apnea, Re... OMIM:609069
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Cupped ear, Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Ventri... OMIM:613870
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Ventricular septal defect OMIM:209770
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... OMIM:613225
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Okamoto Syndrome
Aortic valve stenosis, Low-set ears, Abnormal helix morphology, Wide nasal bridge, Depressed nasa... ORPHA:2729
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Joint swelling, Intr... ORPHA:98878
Abeta Amyloidosis, Iowa Type
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324708
Keutel Syndrome
Optic atrophy, Short distal phalanx of finger, Depressed nasal bridge, Hearing impairment, Underd... ORPHA:85202
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platelets, Pr... OMIM:231200
Eosinophilic Granulomatosis With Polyangiitis
Abnormal pleura morphology, Cutis marmorata, Hematuria, Weight loss, Tubulointerstitial nephritis... ORPHA:183
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Situs inversu... OMIM:605376
Ethylmalonic Encephalopathy
Failure to thrive, Acrocyanosis, Petechiae, Ethylmalonic aciduria ORPHA:51188
Koolen-De Vries Syndrome Due To A Point Mutation
Hearing impairment, Recurrent otitis media, Pear-shaped nose, Cryptorchidism, Hand muscle atrophy... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hearing impairment, Recurrent otitis media, Pear-shaped nose, Cryptorchidism, Hand muscle atrophy... ORPHA:363958
20P12.3 Microdeletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Malar flattening, Atrial se... ORPHA:261295
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Sclerotic vertebral endplates, Petechiae, Splenomegaly, Reticulocytosis, Thrombocy... OMIM:611490
Erythrocytosis, Familial, 1
Vertigo, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Plethora, Increased c... OMIM:133100
Joubert Syndrome 14
Low-set ears, Optic atrophy, Prominent nasal bridge, Malar flattening, Encephalocele, Ventricular... OMIM:614424
Dilated Cardiomyopathy With Ataxia
Optic atrophy, Generalized amyotrophy, Dilated cardiomyopathy, Bilateral cryptorchidism, Muscular... ORPHA:66634
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Decreased proportion of CD8-positive T cells, Decreased proportion ... OMIM:617241
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Death in infa... OMIM:620300
Grange Syndrome
Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:79094
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Decreased circu... ORPHA:90673
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Varicose veins, Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Abnormal platelet count, Bruising susceptibility, Ecchymosis OMIM:614009
Lethal Osteosclerotic Bone Dysplasia
Low-set ears, Depressed nasal ridge, Retrognathia, Delayed cranial suture closure, Respiratory di... ORPHA:1832
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Respiratory distress, Reduce... OMIM:613642
Familial Afibrinogenemia
Gingival bleeding, Epistaxis, Abnormal bleeding, Joint swelling, Cerebral hemorrhage, Miscarriage ORPHA:98880
Acquired Purpura Fulminans
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Thrombocytopenia, Pyoder... ORPHA:49566
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Paternal Uniparental Disomy Of Chromosome 5
Rhizomelic arm shortening, Short lower limbs, Secundum atrial septal defect, Kyphoscoliosis ORPHA:96190
Griscelli Syndrome Type 2
Hemophagocytosis, Premature graying of hair, Pancytopenia, Petechiae, Splenomegaly, Lymphadenopat... ORPHA:79477
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Orthopnea, Patent ductus ... ORPHA:3092
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Abnormal helix morphology, Short thumb, Abnormal lung lobation, T... ORPHA:1120
Frontonasal Dysplasia 1
Low-set ears, Cranium bifidum occultum, Hypoplasia of the maxilla, Joint contracture of the hand,... OMIM:136760
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Halperin-Birk Syndrome
Optic atrophy, Semilobar holoprosencephaly, Hearing impairment, Umbilical hernia, Micrognathia, C... OMIM:618651
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle... ORPHA:1143
Giant Cell Arteritis
Vasculitis, Epistaxis, Optic atrophy, Conductive hearing impairment, Aortic dissection, Double ou... ORPHA:397
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Micrognathia, Abnormal aortic morphology, Abnormality of the pulmonary arter... ORPHA:1166
Reversible Cerebral Vasoconstriction Syndrome
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i... ORPHA:284388
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... OMIM:212093
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
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Microphthalmia, Syndromic 9
Low-set ears, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal d... OMIM:601186
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Fetal Cytomegalovirus Syndrome
Optic atrophy, Petechiae, Splenomegaly, Sensorineural hearing impairment, Anemia, Thrombocytopeni... ORPHA:294
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Low-set ears, Elbow dislocation, Dry skin, Micrognathia, Cryptorchidism, Hip contracture, Ventric... OMIM:210710
Fetal Minoxidil Syndrome
Depressed nasal bridge, Umbilical hernia, Low-set, posteriorly rotated ears, Micrognathia, Crypto... ORPHA:1918
Tarp Syndrome
Low-set ears, Optic atrophy, Wide nasal bridge, Prominent antihelix, Subdural hemorrhage, Tetralo... OMIM:311900
Fetal Trimethadione Syndrome
Low-set ears, Depressed nasal bridge, Abnormal helix morphology, Tetralogy of Fallot, Micrognathi... ORPHA:1913
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
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Bi... OMIM:132900
Cardiospondylocarpofacial Syndrome
Low-set ears, Carpal synostosis, Recurrent otitis media, Mitral regurgitation, Congenital diaphra... OMIM:157800
Williams Syndrome
Synostosis of joints, Genu valgum, Carious teeth, Micrognathia, Type II diabetes mellitus, Mitral... ORPHA:904
Lujo Hemorrhagic Fever
Hypotension, Atelectasis, Respiratory distress, Shock, Lymphopenia, Leukopenia, Leukocytosis, Exc... ORPHA:319213
Catel-Manzke Syndrome
Low-set ears, Joint dislocation, Short toe, Umbilical hernia, Narrow naris, Narrow nose, Microgna... OMIM:616145
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Low-set ears, Micrognathia, Sensorineural hearing impairment, Bicuspid aortic valve, Atrial septa... OMIM:612474
Houge-Janssens Syndrome 3
Muscular ventricular septal defect, Broad nasal tip, Atrial septal defect, Umbilical hernia OMIM:618354
Ehlers-Danlos Syndrome, Classic Type, 1
Aortic root aneurysm, Poor wound healing, Bruising susceptibility, Umbilical hernia, Joint disloc... OMIM:130000
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epistaxis, Gastrointestinal hemorrhage, Poor wound healing, Post-partum hemorrhage, Prolonged ble... ORPHA:465
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Osteogenesis Imperfecta
Carious teeth, Aortic root aneurysm, Hearing impairment, Enlarged vertebral pedicles, Micrognathi... ORPHA:666
3C Syndrome
Aortic valve stenosis, Low-set ears, Micrognathia, Abnormal mitral valve morphology, Ventricular ... ORPHA:7
Sea-Blue Histiocytosis
Abnormal bleeding, Sea-blue histiocytosis, Splenomegaly, Petechiae, Thrombocytopenia, Mediastinal... ORPHA:158029
Livedoid Vasculopathy
Poor wound healing, Skin ulcer, Polycythemia, Macular purpura, Graves disease, Cutis marmorata, I... ORPHA:542643
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Secundum atrial septal defect, Leukocyte inclusion bodies OMIM:223350
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Partial anosmia, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Conge... ORPHA:2326
Congenital Disorder Of Glycosylation, Type Ie
Optic atrophy, Ankle flexion contracture, Muscular dystrophy, Small hand, Depressed nasal bridge,... OMIM:608799
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Low-set ears, Cryptorchidism, Ventricular septal defect, Absent frontal sinuses, Sensorineural he... OMIM:301040
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Death in childhood, Hypoplasia of the thymus OMIM:200900
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Short distal phalanx of finger, Abnormal bleeding, Bruising susceptibility, Ecchymosis... OMIM:277450
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Congenital pulmonary airway malformation, Lymphopenia, Leukocytosis, Autoimmune hem... OMIM:243150
Hemophilia A
Gingival bleeding, Epistaxis, Bruising susceptibility, Petechiae, Muscle hemorrhage, Persistent b... OMIM:306700
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Micrognathia, Scoliosis, Atrial septal defect, Ventricular septal defect OMIM:608227
Bronchopulmonary Dysplasia
Small for gestational age, Right ventricular failure, Atelectasis, Emphysema, Respiratory distres... ORPHA:70589
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:614262
Waldenström Macroglobulinemia
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Normocytic anemia, Leukemi... ORPHA:33226
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Recurrent pneumonia, Failure to thrive, Hypoplasia of the thymus, Impaired lymphocyte ... OMIM:300400
Lessel-Kreienkamp Syndrome
Hypoplastic helices, Wide nasal bridge, Dental malocclusion, Hearing impairment, Abnormal pattern... OMIM:619149
Q Fever
Pneumonia, Vasculitis, Abnormal vascular morphology, Abnormal heart valve morphology, Respiratory... ORPHA:781
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Tetralogy of Fallot, Congenital diaphragmatic hernia, Pulmonary arterial... OMIM:300887
Wiskott-Aldrich Syndrome
Gingival bleeding, Nephropathy, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... OMIM:301000
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... ORPHA:3282
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Low-set ears, Wide nasal bridge, Depressed nasal bridge, Atresia of the e... OMIM:301022
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Hypoplasia of the maxilla, Optic disc coloboma, Micrognathia, Malar fla... OMIM:241310
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Tachypnea, Arrhythmia, Orthopnea, Elevated jugular ... ORPHA:2041
Recon Progeroid Syndrome
Skeletal muscle atrophy, Progeroid facial appearance, Underdeveloped nasal alae, Dry skin, Anteve... OMIM:620370
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Pancytopenia, Retinal hemorrhage, Neutrophilia, Tachycardia, Jaundice, Purpura... ORPHA:99827
14Q24.1Q24.3 Microdeletion Syndrome
Wide nasal bridge, Short thumb, Abnormal heart morphology, Prominent nasal bridge, Cryptorchidism... ORPHA:401935
Tempi Syndrome
Polycythemia, Increased hematocrit, Transudative pleural effusion, Telangiectasia, Abnormality of... ORPHA:284227
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Conductive hearing impairment, Sinus tachycardia, Congestive hear... ORPHA:29072
Distal Xq28 Microduplication Syndrome
Epistaxis, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Broad nasal t... ORPHA:293939
Coenzyme Q10 Deficiency, Primary, 8
Hearing impairment, Respiratory distress, Peripheral demyelination, Left ventricular hypertrophy,... OMIM:616733
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Cryptorchidism, Thia... OMIM:249270
Atelis Syndrome 1
Carious teeth, Dry skin, Leukopenia, Prominent nose, Glue ear, Ventricular septal defect, Hypothy... OMIM:620184
Autism Spectrum Disorder Due To Auts2 Deficiency
Low-set ears, Wide nasal bridge, Joint contracture of the hand, Congenital contracture, Retrognat... ORPHA:352490
14Q11.2 Microdeletion Syndrome
Depressed nasal bridge, Low-set, posteriorly rotated ears, Micrognathia, Ventricular septal defec... ORPHA:261120
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Patent foramen ovale, Sp... OMIM:616867
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Iga Nephropathy, Susceptibility To, 1
Nephritis, Stage 5 chronic kidney disease, Proteinuria, Hypertension, Hematuria, Purpura OMIM:161950
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Optic atrophy, Myopathy, Cardiomyopathy ORPHA:26792
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Bacterial Toxic-Shock Syndrome
Pneumonia, Hypotension, Shock, Respiratory distress, Renal insufficiency, Respiratory tract infec... ORPHA:36234
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Low-set ears, Optic atrophy, Wide nasal bridge, Broad columella, Recurrent respiratory infections... OMIM:619383
Anti-Glomerular Basement Membrane Disease
Vasculitis, Renal insufficiency, Proteinuria, Hematuria, Anemia, Purpura ORPHA:375
Mandibulofacial Dysostosis-Microcephaly Syndrome
Low-set ears, Absent tragus, Hypoplasia of the maxilla, Abnormality of the outer ear, Conductive ... ORPHA:79113
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Cutis marmorata, Pancytopenia, Hepatosplenomegaly, Livedo ra... OMIM:615688
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Pulmonary edema, Orthopne... ORPHA:980
Hemophilia B
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Hematuria, Persistent... OMIM:306900
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Low-set ears, Wide nasal bridge, Microretrognathia, Hypoplasia of the zygomatic bone, Short colum... OMIM:613603
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Aortic root aneurysm, Kyphosis, Narrow nose, Cutis marmorata, Congenital diaphragm... OMIM:617602
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Pancreati... OMIM:600001
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Genu valgum, Ventricular septal defect, Prominent nasal tip, Atrial septal defect, Flat acetabula... OMIM:618870
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Low-set ears, Choanal atresia, Retrognathia, Muscular ventricular septal defect, Butterfly verteb... OMIM:619227
Hemochromatosis, Type 3
Cardiomyopathy, Lymphopenia, Hypogonadotropic hypogonadism, Neutropenia, Arthritis, Anemia, Purpura OMIM:604250
Mixed Connective Tissue Disease
Nephropathy, Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Hemolytic anemia, Pleuriti... ORPHA:809
Neurofibromatosis-Noonan Syndrome
Low-set ears, Depressed nasal bridge, Neurofibroma, Secundum atrial septal defect, Malar flatteni... OMIM:601321
Atelis Syndrome 2
Low-set ears, Kyphosis, Elevated circulating thyroid-stimulating hormone concentration, Bulbous n... OMIM:620185
X-Linked Intellectual Disability, Nascimento Type
Depressed nasal bridge, Peripheral pulmonary artery stenosis, Hearing impairment, Recurrent respi... ORPHA:163956
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Low-set ears, Dilated cardiomyopathy, Nasal congestion, Elbow flexion contracture, Bulbous nose, ... OMIM:608836
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Low-set ears, Carious teeth, Aortic root aneurysm, Micrognathia, Mitral valve prolapse, Radioulna... ORPHA:536467
Feingold Syndrome Type 1
Interrupted aortic arch, Conductive hearing impairment, Short thumb, Abnormal heart morphology, S... ORPHA:391641
Lissencephaly Syndrome, Norman-Roberts Type
Low-set ears, Wide nasal bridge, Microretrognathia, Respiratory distress, Patent foramen ovale, A... ORPHA:89844
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Increased mean corpuscular volume, Retrognathia, Short thumb, Persistenc... OMIM:612561
Retinopathy Of Prematurity
Retinal arteriolar tortuosity, Vitreous hemorrhage ORPHA:90050
Microcephaly-Capillary Malformation Syndrome
Low-set ears, Optic atrophy, Hypoplasia of the maxilla, Short distal phalanx of finger, Hearing i... OMIM:614261
Cutaneous Small Vessel Vasculitis
Vasculitis, Erythema, Cutis marmorata, Purpura, Urticaria ORPHA:889
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:614096
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Congenital hip dislocation, Hip dislocation, Skeletal muscle atrophy, Subdural hemorrhage, Kyphos... OMIM:618291
Down Syndrome
Shallow acetabular fossae, Acute megakaryocytic leukemia, Ventricular septal defect, Atrial septa... OMIM:190685
Neurooculocardiogenitourinary Syndrome
Low-set ears, Bilateral cryptorchidism, Tricuspid regurgitation, Prominent nasal bridge, Patent f... OMIM:618652
Emanuel Syndrome
Aortic valve stenosis, Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Co... OMIM:609029
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Epistaxis, Bruising susceptibility, Cardiomyopathy, Renal insuff... OMIM:203300
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... OMIM:611788
Hadziselimovic Syndrome
Low-set ears, Ventricular hypertrophy, Tetralogy of Fallot, Anteverted nares, Prominent nasal bri... OMIM:612946
Malan Syndrome
Retrognathia, Cutis marmorata, Hyperplasia of the premaxilla, Advanced eruption of teeth, Scolios... OMIM:614753
Li-Campeau Syndrome
Low-set ears, Patellar hypoplasia, Cryptorchidism, Patent foramen ovale, Ventricular septal defec... OMIM:619189
Nemaline Myopathy 9
Nemaline bodies, Arthrogryposis multiplex congenita, Micrognathia, Ventricular septal defect, Sco... OMIM:615731
Intellectual Developmental Disorder, Autosomal Recessive 73
Low-set ears, Ventricular septal defect, Posteriorly rotated ears, Scoliosis, Patent ductus arter... OMIM:619717
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Low-set ears, Aplasia of the thymus, Atrial septal defect, Hypoparathyroidism, Patent ductus arte... OMIM:618223
Global Developmental Delay With Or Without Impaired Intellectual Development
Low-set ears, Bulbous nose, Ventricular septal defect, Atrial septal defect, Pulmonary sequestrat... OMIM:618330
Microcephaly 30, Primary, Autosomal Recessive
Choanal stenosis, Secundum atrial septal defect, Uplifted earlobe OMIM:620183
Fetal Gaucher Disease
Depressed nasal bridge, Low-set, posteriorly rotated ears, Abnormality of the spleen, Pancytopeni... ORPHA:85212
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Hearing impairment, Talipes valgus, Decreased nerve conduction velocity, Ve... OMIM:616652
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral ischemia, Throm... OMIM:263300
Erythrocytosis, Familial, 2
Hypotension, Elevated circulating erythropoietin concentration, Failure to thrive, Cerebral hemor... OMIM:263400
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... OMIM:270100
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Low-set ears, Dental malocclusion, Hearing impairment, Cleft at the s... OMIM:614669
Wiedemann-Rautenstrauch Syndrome
Low-set ears, Natal tooth, Prominent scalp veins, Dry skin, Micrognathia, Reduced subcutaneous ad... OMIM:264090
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Hearing impairment, Congenital diaphragmatic hernia, Histiocytoid... OMIM:309801
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Low-set ears, Alobar holoprosencephaly, Semilobar holoprosencephaly, Hear... OMIM:301043
Propionic Acidemia
Hyperglycinuria, Failure to thrive, Increased level of hippuric acid in urine, Cardiomyopathy, Pa... OMIM:606054
Lowry-Maclean Syndrome
Low-set ears, Choanal atresia, Hypoplasia of the maxilla, Retrognathia, Bilateral cryptorchidism,... ORPHA:2409
Diabetic Embryopathy
Spinal dysraphism, Hearing impairment, Tetralogy of Fallot, Low-set, posteriorly rotated ears, Mi... ORPHA:1926
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Respiratory distress, Prolonged QRS ... ORPHA:90068
Intellectual Developmental Disorder, Autosomal Dominant 21
Low-set ears, Cryptorchidism, Coarctation of aorta, Atrial septal defect, Incisor macrodontia, Po... OMIM:615502
Familial Multiple Nevi Flammei
Arteriovenous malformation, Pulmonary embolism, Skin ulcer, Abnormal cranial nerve morphology, Ve... ORPHA:624
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Hearing impairment, Atresia of the external auditory canal, Cryptorchidism... OMIM:601808
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... ORPHA:261183
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Low-set ears, Hearing impairment, Ventricular septal defect, Bicuspid aort... OMIM:618164
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... ORPHA:2306
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin... OMIM:187300
Viss Syndrome
Low-set ears, Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Exostosis ... OMIM:619472
Ring Chromosome 12 Syndrome
Low-set ears, Symphalangism of the thumb, Secundum atrial septal defect, Breast hypoplasia, Lumba... ORPHA:1439
Congenital Myopathy 11
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:619967
Distal Triplication 15Q
Low-set ears, Abnormal helix morphology, Pulmonary hypoplasia, Cupped ear, Retrognathia, Scoliosi... ORPHA:314588
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Poor wound healing, Abnormality of the spleen, Hepatosplenomegaly, Pa... ORPHA:2072
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Bone Dysplasia, Lethal Holmgren Type
Depressed nasal ridge, Rhizomelia, Joint dislocation, Micromelia, Hypertrophic cardiomyopathy, An... ORPHA:1842
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
8Q12 Microduplication Syndrome
Wide nasal bridge, Abnormal cranial nerve morphology, Sensorineural hearing impairment, Ventricul... ORPHA:228399
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Aplasia/Hypoplasia of the radius, Absent thumb, K... ORPHA:392
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Hyperaldosteronism, Adr... ORPHA:369929
Tatton-Brown-Rahman Syndrome
Neuroendocrine neoplasm, Aortic root aneurysm, Short toe, Umbilical hernia, Tricuspid regurgitati... ORPHA:404443
Pleural Mesothelioma
Respiratory distress, Obstruction of the superior vena cava, Abnormal pleura morphology, Abnormal... ORPHA:50251
Noonan Syndrome 11
Low-set ears, Depressed nasal bridge, Hypertrophic cardiomyopathy, Bulbous nose, Palmoplantar cut... OMIM:618499
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Dry skin, Decreased circulating T4 concentration, ... ORPHA:99832
Syndromic Diarrhea
Aortic regurgitation, Peripheral pulmonary artery stenosis, Renal hypoplasia, Small for gestation... ORPHA:84064
Mucopolysaccharidosis-Plus Syndrome
Death in childhood, Atrial septal defect, Neutropenia, Patent ductus arteriosus, Wide nose, Hyper... OMIM:617303
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Prolonged bleeding time, Congestive heart failur... ORPHA:90308
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Warfarin-induced skin necrosis, Pulmonary embolism OMIM:612336
Teebi Hypertelorism Syndrome 1
Wide nasal bridge, Depressed nasal bridge, Small hand, Coronal craniosynostosis, Aortic root aneu... OMIM:145420
Lujan-Fryns Syndrome
Low-set ears, Hypoplasia of the maxilla, Camptodactyly of finger, Micrognathia, Prominent nasal b... ORPHA:776
Melanocytic Nevus Syndrome, Congenital
Broad nasal tip, Anteverted nares, Prominence of the premaxilla, Narrow nasal ridge, Short nose OMIM:137550
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Interrupted aortic arch, Depressed nasal ridge, Hearing impairment, Aplas... ORPHA:1727
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Timothy Syndrome
Pneumonia, Depressed nasal bridge, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Paten... OMIM:601005
Meacham Syndrome
Death in childhood, Neonatal death, Ventricular septal defect, Bicuspid aortic valve, Atrial sept... OMIM:608978
Stankiewicz-Isidor Syndrome
Low-set ears, Absent thumb, Retrognathia, Hearing impairment, Short thumb, Prominent nose, Microg... OMIM:617516
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Short 5th finger, Choanal atresia, Underdeveloped nasal alae, Overhangin... ORPHA:163979
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Atelectasis, Respiratory distress... OMIM:610978
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Abnormal cerebral vascular morphology, Skin ulcer, Subcutaneous hemorrhage, V... ORPHA:743
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology OMIM:601612
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Secundum atrial septal defect OMIM:620242
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Autoerythrocyte Sensitization Syndrome
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Abnormal erythrocyte morphology,... ORPHA:324636
Chromosome 5Q12 Deletion Syndrome
Hypotension, Prominent nose, Micrognathia, Overfolded helix, Patent foramen ovale, Ventricular se... OMIM:615668
Thanatophoric Dysplasia
Low-set ears, Depressed nasal bridge, Platyspondyly, Kyphosis, Hearing impairment, Micromelia, Re... ORPHA:2655
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Decreased proportion of CD4-positive T cell... OMIM:619374
Common Variable Immunodeficiency
Pneumonia, Vasculitis, Emphysema, Failure to thrive in infancy, Lymphopenia, Hemolytic anemia, Re... ORPHA:1572
Kasabach-Merritt Phenomenon
Hypopnea, Microangiopathic hemolytic anemia, Respiratory distress, Leukopenia, Petechiae, Abnorma... ORPHA:2330
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Micrognathia, Cryptorchidism, Tachypnea, Pulmonary arterial hypertension, Coarctation of aorta, A... OMIM:614857
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Short 5th finger, Acromesomelia, Recurrent pneumonia, Scoliosis, Abnormal earlobe morphology, Umb... ORPHA:500159
Mungan Syndrome
Tricuspid regurgitation, Perimembranous ventricular septal defect, Abnormality of the autonomic n... OMIM:611376
Phenobarbital Embryopathy
Low-set ears, Aplasia/Hypoplasia of fingers, Tetralogy of Fallot, Malar flattening, Abnormal mitr... ORPHA:1919
Contractural Arachnodactyly, Congenital
Crumpled ear, Aortic root aneurysm, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Ve... OMIM:121050
Pituitary Adenoma 4, Acth-Secreting
Poor wound healing, Bruising susceptibility, Pituitary adenoma, Striae distensae, Obesity, Increa... OMIM:219090
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Vertigo, Transient ischemic attack, Pseudopapilledema, Stroke, Intracranial ... ORPHA:140989
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short distal phalanx of finger, Underdeveloped nasal alae, Abnormal lung lobation, Micrognathia, ... ORPHA:2516
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Bruising susceptibility, Acute monocytic leukemia, Abnormal dense granule content, Abn... OMIM:601399
Asbestos Intoxication
Cor pulmonale, Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis... ORPHA:2302
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Low-set ears, Hearing impairment, Delayed cranial suture closure, Mitral regurgitation, Mitral va... OMIM:601776
Distal Deletion 15Q
Low-set ears, Small hand, Hearing impairment, Micrognathia, Genu valgum, Congenital diaphragmatic... ORPHA:1596
Congenital Alveolar Capillary Dysplasia