| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Edema |
OMIM:613267 |
| Testicular Torsion |
|
Testicular torsion, Torsion of appendix of testis |
OMIM:187400 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
| Angioedema, Hereditary, 6 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619363 |
| Lymphatic Malformation 11 |
|
Lymphedema, Pedal edema |
OMIM:619401 |
| Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
| Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Thrombocytopenia |
OMIM:209970 |
| Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Angioedema, Hereditary, 5 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619361 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... |
OMIM:614840 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
| Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Micropenis, Ambiguous genitalia, Testicular dysgenesis, Cryptorchidism, Perineal hypospadias, Mic... |
OMIM:615542 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Menorrhagia, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Atrial septal defect, Abnormality of the hand, Abnormality of the... |
ORPHA:521308 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
| Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... |
ORPHA:1646 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Pulmonary edema, Edema |
OMIM:178400 |
| Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Short stature, Camptodactyly of finger, Brachydactyly, Ventri... |
ORPHA:1937 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
| Bone Marrow Failure Syndrome 5 |
|
Anemia, Testicular atrophy, Pure red cell aplasia, Hypogonadism |
OMIM:618165 |
| Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Clinodactyly of the 5th finger, Cognitive impairment, Short stature, Ventricular septal defect, D... |
ORPHA:2515 |
| Lymphedema-Cerebral Arteriovenous Anomaly Syndrome |
|
Lymphedema |
ORPHA:86914 |
| Fibular Hemimelia |
|
Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip subluxation, Abnormal h... |
ORPHA:93323 |
| Polyhydramnios, Chronic Idiopathic |
|
Polyhydramnios |
OMIM:263610 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis |
OMIM:615193 |
| Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Atrial septal defect, Aplasia of the middle phal... |
OMIM:615297 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Chilblain Lupus 2 |
|
Edema |
OMIM:614415 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia, Menorrhagia |
OMIM:616913 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Generalized hirsutism, Clinodactyly of the 5th finger, Umbilical hernia |
ORPHA:1918 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia, Menorrhagia |
OMIM:613554 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Short stature, Cognitive impairment, Ventricular septal defect, V... |
OMIM:614947 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Macular Dystrophy, Dominant Cystoid |
|
Cystoid macular edema, Edema |
OMIM:153880 |
| Feingold Syndrome 2 |
|
3-4 toe syndactyly, 2-3 toe syndactyly, Short stature, Short middle phalanx of the 2nd finger, Ve... |
OMIM:614326 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Atrial septal defect, Talipes equinovarus, Short stature, Aplasia... |
ORPHA:52056 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrocele testis, Congenital thrombocytopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:616738 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly |
ORPHA:721 |
| Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
| Erythroleukemia, Familial, Susceptibility To |
|
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia |
OMIM:133180 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia, Decreased testicular size |
OMIM:601815 |
| Sonoda Syndrome |
|
Ventricular septal defect, High axial triradius, Short stature |
OMIM:270460 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... |
OMIM:173590 |
| Feingold Syndrome Type 2 |
|
Short stature, Brachydactyly, Ventricular septal defect, Short middle phalanx of finger, Short th... |
ORPHA:391646 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Bilateral breast hypoplasia, Hypo... |
ORPHA:52901 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion |
OMIM:618773 |
| Catel-Manzke Syndrome |
|
Clinodactyly of the 5th finger, Atrial septal defect, Radial deviation of the 2nd finger, Short s... |
ORPHA:1388 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Short stature, Pulmonic stenosis, Ventricular septal defect, Patent ductus ... |
OMIM:249670 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Mesomelic/rhizomelic limb shortening, Ven... |
ORPHA:1354 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:615285 |
| Santos Syndrome |
|
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Short stature, Syndactyly, Brac... |
OMIM:613005 |
| Lymphatic Malformation 3 |
|
Lymphedema |
OMIM:613480 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Tessadori-Van Haaften Neurodevelopmental Syndrome 1 |
|
Growth delay, Clinodactyly of the 5th finger, Secundum atrial septal defect, Oligodactyly, Short ... |
OMIM:619758 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot, Split foot |
OMIM:601348 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture, Abnormal hand morphology |
OMIM:122850 |
| Glaucoma 3, Primary Congenital, E |
|
Edema |
OMIM:617272 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism |
OMIM:616030 |
| Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
| 46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Urogenital sinus anomaly, Abnormality of the endocrine system, Hypoplasia of penis, Ambiguous gen... |
ORPHA:753 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism |
ORPHA:242 |
| Isolated Splenogonadal Fusion |
|
Hydrocele testis, Abnormal penis morphology, Unilateral cryptorchidism, Testicular mass, Polysple... |
ORPHA:457083 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Menorrhagia, Leuk... |
OMIM:155100 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Pancytopenia, Cryptorchidism, Thrombocytopenia, Leukemia |
OMIM:194350 |
| Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Death in childhood, Atrial septal defect |
OMIM:253300 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
| Stt3B-Cdg |
|
Cryptorchidism, Thrombocytopenia, Small scrotum, Micropenis |
ORPHA:370924 |
| Brachydactyly-Syndactyly Syndrome |
|
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... |
OMIM:610713 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect, Death in infancy, Epiphyseal stippling |
OMIM:614876 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Menorrhagia, Macrothrombocytopenia |
OMIM:616176 |
| Pallister-Hall Syndrome |
|
Distal shortening of limbs, Mesoaxial hand polydactyly, Mesoaxial foot polydactyly, Short stature... |
OMIM:146510 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect, Clinodactyly of the 5th finger, Patent ductus arteriosus, Single trans... |
OMIM:619717 |
| Lig4 Syndrome |
|
Amenorrhea, Micropenis, Hypothyroidism, Pancytopenia, Cryptorchidism, Thrombocytopenia |
OMIM:606593 |
| Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
ORPHA:517 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Oligohydramnios, I... |
OMIM:617021 |
| Kennedy Disease |
|
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Cryptorchidism, Thrombocytopenia, Small scrotum, Micropenis |
OMIM:615597 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Short toe, Atrial septal defect, Short phalanx of finger, Tapered finger, Long fingers, Ventricul... |
OMIM:613458 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Wide anterior fontanel, Talipes equinovarus, Short stature, Short tibia, Single ... |
OMIM:201170 |
| 14Q11.2 Microdeletion Syndrome |
|
Toe clinodactyly, Ventricular septal defect, Patent ductus arteriosus, Highly arched eyebrow, Spa... |
ORPHA:261120 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Decreased testicular size |
OMIM:614858 |
| Fanconi Anemia, Complementation Group T |
|
Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
| Mmep Syndrome |
|
Ventricular septal defect, Triphalangeal thumb, Split foot |
ORPHA:3434 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
| Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Arachnodactyly, Humeroradial synostosis, Occipital encephalocele, Oligodactyly |
OMIM:614416 |
| Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
| Desbuquois Syndrome |
|
Coxa vara, Abnormal femoral neck/head morphology, Clinodactyly of the 5th finger, Disproportionat... |
ORPHA:1425 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:614082 |
| Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Absent thumb, At... |
ORPHA:392 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Menorrhagia, Macrothrombocytopenia, Giant plate... |
OMIM:231200 |
| Postaxial Tetramelic Oligodactyly |
|
Abnormal metacarpal morphology, Abnormality of finger, Oligodactyly, Ectrodactyly |
ORPHA:2730 |
| Choanal Atresia And Lymphedema |
|
Lymphedema, Pericardial effusion |
OMIM:613611 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Ectrodactyly, Talipes equinovarus, Brachydactyly, Oligodactyly, Split hand |
OMIM:612576 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Oligohydramnios, Cardiomyopathy |
ORPHA:1909 |
| Lymphatic Malformation 9 |
|
Predominantly lower limb lymphedema |
OMIM:619319 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Sparse scalp hair, Adducted thumb, Muscular ventricular septal defect, Short stature, Brachydacty... |
OMIM:620062 |
| Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
| Roifman Syndrome |
|
Short toe, Clinodactyly of the 5th finger, Short stature, Eczema, Brachydactyly, Irregular femora... |
OMIM:616651 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Atrioventricular block, Pulmonary edema, Myofiber disarray, Left bundle... |
OMIM:115197 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
| Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
| Cardiomyopathy, Dilated, 2D |
|
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... |
OMIM:619371 |
| Filippi Syndrome |
|
Hypertrichosis, Sparse hair, Cutaneous syndactyly, Finger clinodactyly, Frontal hirsutism, Ventri... |
OMIM:272440 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Thrombocytopenia, Pancytopenia |
OMIM:613987 |
| Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
| Brachydactyly, Type B1 |
|
Wide anterior fontanel, Joint contracture of the hand, Syndactyly, Aplasia/Hypoplasia of the dist... |
OMIM:113000 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Sparse hair, Sparse eyebrow, Short stature, Sparse eyelashes, Ventricular septal defect |
OMIM:616901 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
| 8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Highly arched eyebrow, Toe syn... |
ORPHA:251076 |
| Lymphedema And Cerebral Arteriovenous Anomaly |
|
Lymphedema |
OMIM:152900 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Overlapping toe, Atrial septal defect, Pulmonic stenosis, Atopic dermatitis, Camptodactyly, Ventr... |
OMIM:614262 |
| Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... |
OMIM:607941 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
| Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
| 46,Xy Sex Reversal 8 |
|
Sex reversal, Ambiguous genitalia, Male pseudohermaphroditism, Cryptorchidism |
OMIM:614279 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Absent hand, Ectrodactyly, Abnormality of finger, Atrial septal defect, Abnormality of the humeru... |
ORPHA:2538 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
| Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Sparse medial eyebrow, Highly arched eyebrow, Bilateral singl... |
OMIM:618804 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... |
OMIM:615779 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Short distal phalanx of finger, Cognitive impairment, Bilateral single transverse palmar creases,... |
ORPHA:2516 |
| Thyrocerebrorenal Syndrome |
|
Thrombocytopenia, Euthyroid goiter |
ORPHA:3327 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Atrial septal defect, Bilateral talipes equinovarus, Postaxial polydactyly, Prea... |
OMIM:618142 |
| Li-Campeau Syndrome |
|
Hypertrichosis, Atrial septal defect, Thick eyebrow, Short stature, Ventricular septal defect, Si... |
OMIM:619189 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Death in childhood |
OMIM:613759 |
| Coffin-Siris Syndrome 10 |
|
Ventricular septal defect, Clinodactyly |
OMIM:618506 |
| +173470 integrin, beta-3 |
|
Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Menorrhagia, Impa... |
OMIM:173470 |
| Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
| Lambert Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Branchial anomaly |
ORPHA:1296 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Mitral regurgitation, Postaxial ha... |
ORPHA:83473 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Syndactyly, Neonatal death, Ventricular septal defect, Hypoplasia of the ulna, Mesomelia, Truncus... |
OMIM:228940 |
| Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
| Cenani-Lenz Syndrome |
|
Finger syndactyly, Hypoplasia of the radius, Micromelia, Synostosis of carpal bones, Short thumb,... |
ORPHA:3258 |
| Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Low anterior hairline, Atrial septal defect |
OMIM:608227 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Thrombocytopenia, Genital ulcers, Lymphopenia |
OMIM:616744 |
| Catel-Manzke Syndrome |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Hyperphalangy of the 2nd finger, Ulnar devia... |
OMIM:616145 |
| Joubert Syndrome 18 |
|
Ventricular septal defect, Intrauterine growth retardation, Polydactyly, Camptodactyly |
OMIM:614815 |
| Grange Syndrome |
|
Syndactyly, Ventricular septal defect, Aortic regurgitation, Patent ductus arteriosus, Hypertensi... |
ORPHA:79094 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Abnormality of the hand, Short tibia, Micromelia, Oligo... |
OMIM:251230 |
| Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Abnormal hair morphology, Atrial septal defect, Short stature, Ventricular septal defect, Patent ... |
OMIM:608406 |
| Lymphatic Malformation 7 |
|
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion |
OMIM:617300 |
| Noonan Syndrome 12 |
|
Atopic dermatitis, Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Proximal place... |
OMIM:618624 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... |
OMIM:159550 |
| Ritscher-Schinzel Syndrome 2 |
|
Short distal phalanx of finger, Overlapping toe, Atrial septal defect, Syndactyly, Camptodactyly,... |
OMIM:300963 |
| Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Thrombocytopenia |
ORPHA:1237 |
| Timothy Syndrome |
|
Cutaneous syndactyly, Syndactyly, Tetralogy of Fallot, Ventricular septal defect, Patent ductus a... |
OMIM:601005 |
| Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Polyhydramnios, Abnormal morphology of the radius, Atrial septal defect |
ORPHA:3469 |
| Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Sideroblastic anemia, Neutropenia, Diabetes mellitus, Thrombocytopenia, Dia... |
OMIM:598500 |
| Leydig Cell Hypoplasia |
|
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... |
ORPHA:755 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
2-3 toe syndactyly, Atrial septal defect, Tricuspid regurgitation, Finger joint hypermobility, Sh... |
OMIM:618870 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Death in infancy, Bradycardia |
OMIM:616277 |
| Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... |
OMIM:614980 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Eczema, Short 5th finger, Ventricular septal defect, Patent ductus arterio... |
ORPHA:500159 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Abnormal morphology of ulna, Split foot, Short stature, Aplasia/Hypoplasia of the radius, Abnorma... |
ORPHA:1307 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Short stature, Pulmonic stenosis, Mitral regurgitation, Brachydactyly, Ven... |
ORPHA:3449 |
| Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Growth delay, Clinodactyly of the 5th finger, Atrial septal defect... |
OMIM:179613 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Anencephaly, Ventricular septal defect, Aplasia/Hypoplasia of the radius,... |
ORPHA:2476 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Impaired platelet aggregation, Menorrhagia, Thrombocytopenia |
OMIM:617443 |
| Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypogonadotropic hypogonadism, Microcytic anem... |
ORPHA:848 |
| Thyrocerebroretinal Syndrome |
|
Goiter, Thrombocytopenia |
OMIM:274240 |
| Bartsocas-Papas Syndrome 1 |
|
Sparse scalp hair, Talipes equinovarus, Absent eyebrow, Absent thumb, Alopecia, Syndactyly, Short... |
OMIM:263650 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Overlapping toe, Atrial septal defect, Cutaneous syndactyly, Overl... |
OMIM:618316 |
| Noonan Syndrome 8 |
|
Atrial septal defect, Short stature, Pulmonic stenosis, Left ventricular hypertrophy, Eczema, Mit... |
OMIM:615355 |
| Fechtner syndrome |
|
Neutrophil inclusion bodies, Menorrhagia, Leukocyte inclusion bodies, Giant platelets, Thrombocyt... |
OMIM:153640 |
| Mcdonough Syndrome |
|
Atrial septal defect, Aortic valve stenosis, Sparse hair, Short stature, Pulmonic stenosis, Ventr... |
OMIM:248950 |
| Isolated Klippel-Feil Syndrome |
|
Cognitive impairment, Ventricular septal defect, Abnormal shoulder morphology, Spina bifida, Low ... |
ORPHA:2345 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Short distal phalanx of finger, Hydranencephaly, Truncus arteriosus |
OMIM:601355 |
| Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Short t... |
ORPHA:2756 |
| Ulnar/Fibular Ray Defect And Brachydactyly |
|
Atrial septal defect, Bilateral talipes equinovarus, Short stature, Brachydactyly, Postaxial olig... |
OMIM:608571 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
| Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Menorrhagia |
OMIM:601709 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Overlapping toe, Atrial septal defect, Muscular ventricular septal defect, Left-to-right shunt, C... |
ORPHA:363444 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Dislocated radial head, Atrial septal defect, Brachydactyly, Short thumb, Limited elbow extension... |
ORPHA:401935 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Drumstick terminal phalanges, Death in childhood, Brachydactyly, Ventricular septal defect, Paten... |
OMIM:612938 |
| Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... |
ORPHA:199310 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Disproportionate short-limb short stature, Hypoplastic left heart, Micromelia, Ventricular septal... |
ORPHA:2772 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... |
OMIM:220210 |
| Carpenter Syndrome 1 |
|
Aplasia/Hypoplasia of the middle phalanges of the toes, Ventricular septal defect, Genu valgum, U... |
OMIM:201000 |
| Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Leukopenia, Adrenal hypoplasia, Anemia, Thrombocytopenia, Acute myeloid... |
OMIM:619151 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia |
OMIM:229050 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Bicuspid aortic valve, Eczema, Highly arched eyebrow, Ventricular septal defect, Patent ductus ar... |
OMIM:617751 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Right atrial enlargement, Elevated right atrial pressure, Tricuspid regur... |
ORPHA:99095 |
| Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Syndactyly, Ventricular septal defect, Polyhydramnios, Duplication of phala... |
OMIM:263630 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Cardiac shunt, Anomalous p... |
ORPHA:860 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Abnormal heart morphology, Ventricular septal defect, Polyhydramnios, Umbilical hernia, Postnatal... |
ORPHA:254534 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Overlapping toe, Clinodactyly of the 5th finger, Atrial septal defect, Ventricular septal defect,... |
OMIM:618974 |
| Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
| Diamond-Blackfan Anemia 6 |
|
Atrial septal defect, Mitral regurgitation, Tetralogy of Fallot, Ventricular septal defect, Mitra... |
OMIM:612561 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Diabetes mellitus, Cryptorchidism, Thrombocytopenia, Thiamine-responsive me... |
OMIM:249270 |
| Pelger-Huet Anomaly |
|
Eczema, Polydactyly, Upper limb undergrowth, Short 3rd metacarpal, Ventricular septal defect, Umb... |
OMIM:169400 |
| Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
| Congenital Rubella Syndrome |
|
Atrial septal defect, Skin rash, Short stature, Ventricular septal defect, Patent ductus arterios... |
ORPHA:290 |
| Diffuse Neonatal Hemangiomatosis |
|
Abnormal vagina morphology, Anemia, Thrombocytopenia |
ORPHA:2123 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Splenomegaly, Bone-marrow foam cells, Anemia, Thrombocytopenia |
OMIM:607616 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Clinodactyly of the 5th finger, Atrial septal defect, Slender finger, Low ... |
ORPHA:329224 |
| Woods Syndrome |
|
Supernumerary nipple, 3-4 finger cutaneous syndactyly, Limited elbow extension, Frontal hirsutism... |
OMIM:615236 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Highly arched eyebrow, Aplasia/Hypoplasia of the distal phalanges of t... |
ORPHA:94066 |
| 16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Arachnodactyly, Tetralogy of Fallot, Ventricular septal defect, Transpositi... |
ORPHA:261243 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
| Transaldolase Deficiency |
|
Anemia, Abnormality of the clitoris, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:101028 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Pallister-Hall Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Umbilical hernia, Polydactyly affecting... |
ORPHA:672 |
| Cornelia De Lange Syndrome |
|
Short 1st metacarpal, Micromelia, Radioulnar synostosis, Ventricular septal defect, Long eyelashe... |
ORPHA:199 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Aplasia of the ulna, Hand oligodactyly, Hydrops fetalis, Neonatal death, Endocardial fibroelastosis |
OMIM:276822 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... |
OMIM:308700 |
| Craniofaciofrontodigital Syndrome |
|
Hypertrichosis, Finger joint hypermobility, Sacral hypertrichosis, Ventricular septal defect, Gas... |
ORPHA:363705 |
| Poland Syndrome |
|
Unilateral oligodactyly, Unilateral brachydactyly, Syndactyly, Dextrocardia, Hypoplasia of deltoi... |
OMIM:173800 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, Fifth finger distal phalanx clinodactyly... |
ORPHA:3369 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phalanges of the hand, Ventricular sept... |
ORPHA:2256 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Short stature, Paroxysmal atrial tachycardia, Ventricular septal defect, Ca... |
ORPHA:49827 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Polyhydramnios, Lymphedema, Facial edema, Edema |
OMIM:618154 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia |
OMIM:603552 |
| Acrorenal Syndrome |
|
Hand oligodactyly |
OMIM:102520 |
| Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Syndactyly, Brachydactyly, Ventricular septal defect, Portal hypertensio... |
OMIM:616589 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... |
OMIM:308750 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly |
OMIM:314050 |
| Filippi Syndrome |
|
Growth delay, Clinodactyly of the 5th finger, Severe short stature, Supernumerary nipple, Short s... |
ORPHA:3255 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Hypoplasia of right ventricle... |
ORPHA:1209 |
| Hadziselimovic Syndrome |
|
Low anterior hairline, Atrial septal defect, Short stature, Tetralogy of Fallot, Ventricular sept... |
OMIM:612946 |
| Tyshchenko Syndrome |
|
Low anterior hairline, Atrial septal defect, Supernumerary nipple, Short stature, Pulmonic stenos... |
OMIM:615102 |
| Galloway-Mowat Syndrome 7 |
|
Short stature, Arachnodactyly, Partial duplication of thumb phalanx, Eczema, Ventricular septal d... |
OMIM:618348 |
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
2-3 toe syndactyly, Atrial septal defect, Secundum atrial septal defect, Short 2nd finger, Sparse... |
OMIM:600987 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect, Clinodactyly of the 5th finger, Short stature |
OMIM:314320 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Holt-Oram Syndrome |
|
Absent thumb, Hypoplasia of the radius, Finger clinodactyly, Ventricular septal defect, Hypoplasi... |
OMIM:142900 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Tachycardia, Tapered finger, Ventricular septal defect, Patent ductus arter... |
OMIM:613870 |
| Pierre Robin Syndrome And Oligodactyly |
|
Hand oligodactyly |
OMIM:172880 |
| Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
| Fetal Trimethadione Syndrome |
|
Atrial septal defect, Bilateral single transverse palmar creases, Tetralogy of Fallot, Ventricula... |
ORPHA:1913 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect, Rhizomelia, Abnormal epiphysis morphology, Bowing of the long bones, P... |
ORPHA:93267 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect, Preaxial foot polydactyly, Polysyndactyly of hallux |
OMIM:235750 |
| Donnai-Barrow Syndrome |
|
Ventricular septal defect, Wide anterior fontanel, Umbilical hernia, Widow's peak |
ORPHA:2143 |
| Trisomy 13 |
|
Ectrodactyly, Atrial septal defect, Cognitive impairment, Hydrops fetalis, Bilateral single trans... |
ORPHA:3378 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Intrinsic hand muscle atrophy, Low anterior hairline, Muscular ventricular septal defect, Dry hai... |
OMIM:618569 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Thrombocytopenia, Hypersplenism, Splenomegaly |
OMIM:610539 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Short stature, Bilateral single transverse palmar creases, Brachydactyly, Abnormal hair pattern, ... |
ORPHA:1770 |
| 8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Highly arched eyebrow, Atrial septal defect, Short foot |
ORPHA:228399 |
| Microcephaly-Capillary Malformation Syndrome |
|
Short distal phalanx of finger, Atrial septal defect, Abnormal hair whorl, Right ventricular hype... |
OMIM:614261 |
| Acrocardiofacial Syndrome |
|
Mitral stenosis, Atrial septal defect, Finger syndactyly, Split foot, Camptodactyly of finger, Te... |
ORPHA:2008 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal... |
OMIM:601399 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Short femur, Adducted thumb, Flared metaphysis, Hydrops fetalis, Vent... |
OMIM:616897 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Low anterior hairline, Short stature, Abnormality of the hand, Frontal upsweep of hair, Syndactyl... |
ORPHA:369891 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Abnormality of the palmar creases, Ventricular sep... |
OMIM:618652 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
| Char Syndrome |
|
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, Supernumerary nipple, Ventricular sep... |
ORPHA:46627 |
| Phaver Syndrome |
|
Myelomeningocele, Broad hallux phalanx, Camptodactyly of finger, Radioulnar synostosis, Ventricul... |
ORPHA:2876 |
| Fadd-Related Immunodeficiency |
|
Ventricular septal defect |
ORPHA:306550 |
| Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Short stature, Pulmonic stenosis, Ventricular septal defect, Hypertrophic c... |
OMIM:615279 |
| Preeclampsia |
|
Polycystic ovaries, Thrombocytopenia, Type I diabetes mellitus |
ORPHA:275555 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the thumb, Short stature, Anencephaly, Micromelia, Tetralogy of Fallot, Ven... |
ORPHA:1908 |
| Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Leukopenia, Thrombocytopenia |
OMIM:614171 |
| Immunodeficiency 46 |
|
Anemia, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Overlapping toe, Talipes equinovarus, Atrial septal defect, Short stature, Arachnodactyly, Hypere... |
ORPHA:505237 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Syndactyly, Polydactyly |
OMIM:602501 |
| Split-Hand/Foot Malformation 1 |
|
Ectrodactyly, Hand oligodactyly, Split foot, Syndactyly, Broad hallux, Triphalangeal thumb, Clino... |
OMIM:183600 |
| Transaldolase Deficiency |
|
Wide anterior fontanel, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus... |
OMIM:606003 |
| Short Stature-Micrognathia Syndrome |
|
2-3 toe syndactyly, Coxa valga, Short stature, Metaphyseal widening, Broad femoral neck, Ventricu... |
OMIM:617164 |
| Leigh Syndrome With Leukodystrophy |
|
Ventricular septal defect, Hypertrichosis, Hypertrophic cardiomyopathy |
ORPHA:255241 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:617044 |
| Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Hypoplastic left atrium |
OMIM:615524 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:357225 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Single transverse palmar crease, Long eyelashes, Clinodactyly of the 5... |
OMIM:610759 |
| Yellow Nail Syndrome |
|
Predominantly lower limb lymphedema, Lymphedema |
OMIM:153300 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Brittle hair, Alopecia, Short stature, Coarse hair, Ventricular septal defe... |
ORPHA:75389 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasia, Clitoral hy... |
ORPHA:96181 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Supernumerary nipple, Thin eyebrow, Ventricular septal defect, Intrauterine growth retardation, I... |
OMIM:617635 |
| Gray Platelet Syndrome |
|
Impaired collagen-induced platelet aggregation, Splenomegaly, Menorrhagia, Abnormal number of alp... |
OMIM:139090 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Short stature, Tetralogy of Fallot, Abnormal hip bone morphology |
ORPHA:1166 |
| Braddock-Carey Syndrome 1 |
|
Talipes equinovarus, Sparse hair, Small hand, Camptodactyly, Ventricular septal defect, Clinodact... |
OMIM:619980 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect, Short femur, Foot oligodactyly, Anterior encephalocele |
OMIM:601357 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Cooper-Jabs Syndrome |
|
Abnormal hip bone morphology, Short stature, Camptodactyly of finger, Ventricular septal defect, ... |
ORPHA:1488 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Prostate cancer, Hepatosplenomegaly, Thrombocytopeni... |
ORPHA:158057 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Brachydactyly, Tetralogy... |
ORPHA:3306 |
| Systemic Lupus Erythematosus 17 |
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Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
| Wolfram Syndrome 1 |
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Megaloblastic anemia, Testicular atrophy, Thrombocytopenia, Hypothyroidism, Diabetes mellitus, Si... |
OMIM:222300 |
| Prune Belly Syndrome |
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Atrial septal defect, Talipes equinovarus, Cognitive impairment, Congenital hip dislocation, Tetr... |
ORPHA:2970 |
| Thrombocytopenia-Absent Radius Syndrome |
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Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Ventricula... |
OMIM:274000 |
| Chromosome 15Q14 Deletion Syndrome |
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Ventricular septal defect, Highly arched eyebrow, Atrial septal defect |
OMIM:616898 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
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Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis |
OMIM:300367 |
| Insulin-Like Growth Factor I, Resistance To |
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Sparse scalp hair, Atrial septal defect, Short stature, Small hand, Highly arched eyebrow, Ventri... |
OMIM:270450 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
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Overlapping toe, Atrial septal defect, Talipes equinovarus, Short stature, Down-sloping shoulders... |
OMIM:617452 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
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Bicuspid aortic valve, Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Sy... |
ORPHA:284169 |
| 3C Syndrome |
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Abnormal mitral valve morphology, Atrial septal defect, Aortic valve stenosis, Hypoplastic left h... |
ORPHA:7 |
| Non-Involuting Congenital Hemangioma |
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Thrombocytopenia |
ORPHA:141179 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:613101 |
| Lambotte Syndrome |
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Ventricular septal defect, Preaxial foot polydactyly, Intrauterine growth retardation |
OMIM:245552 |
| Coffin-Siris Syndrome 7 |
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Sparse scalp hair, Bicuspid aortic valve, Clinodactyly of the 5th finger, Thick eyebrow, Short st... |
OMIM:618027 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
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Atrial septal defect, Oligohydramnios, Hydrops fetalis, Ventricular septal defect, Lymphedema, Pa... |
OMIM:601927 |
| 19Q13.11 Microdeletion Syndrome |
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Clinodactyly of the 5th finger, Toe clinodactyly, Sparse hair, Supernumerary nipple, Congenital h... |
ORPHA:217346 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect, Talipes equinovarus |
OMIM:209770 |
| Lethal Congenital Contracture Syndrome 10 |
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Talipes equinovarus, Overriding aorta, Adducted thumb, Hydrops fetalis, Overlapping fingers, Vent... |
OMIM:617022 |
| Congenital Disorder Of Glycosylation, Type Iil |
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Atrial septal defect, Postaxial polydactyly, Hip dysplasia, Ventricular septal defect, Patent duc... |
OMIM:614576 |
| Robin Sequence-Oligodactyly Syndrome |
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Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand... |
ORPHA:3104 |
| 19P13.12 Microdeletion Syndrome |
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Generalized hirsutism, Clinodactyly of the 5th finger, Atrial septal defect, Toe clinodactyly, Mi... |
ORPHA:254346 |
| 19P13.3 Microduplication Syndrome |
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Growth delay, Hip dysplasia, Long fingers, Ventricular septal defect, Hip subluxation, Clinodacty... |
ORPHA:447980 |
| Chromosome 6Pter-P24 Deletion Syndrome |
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Clinodactyly of the 5th finger, Atrial septal defect, Frontal upsweep of hair, Tetralogy of Fallo... |
OMIM:612582 |
| Kapur-Toriello Syndrome |
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Atrial septal defect, Joint contracture of the hand, Camptodactyly of finger, Overlapping fingers... |
OMIM:244300 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
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Ventricular septal defect, Tetralogy of Fallot |
OMIM:617992 |
| Sengers Syndrome |
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Thrombocytopenia |
OMIM:212350 |
| 3P25.3 Microdeletion Syndrome |
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Overlapping toe, Atrial septal defect, Postaxial polydactyly, Pulmonic stenosis, 2-3 finger synda... |
ORPHA:435638 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
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Absent eyebrow, Alopecia, Short stature, Brachydactyly, Heart murmur, Ventricular septal defect, ... |
ORPHA:166035 |
| Ventricular Septal Defect 3 |
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Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:614432 |
| Idiopathic Aplastic Anemia |
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Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia |
ORPHA:88 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
| Mosaic Trisomy 9 |
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Atrial septal defect, Talipes equinovarus, Deep palmar crease, Oligohydramnios, Hydrops fetalis, ... |
ORPHA:99776 |
| Meckel Syndrome, Type 4 |
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Atrial septal defect, Anencephaly, Ventricular septal defect, Postaxial hand polydactyly, Bowing ... |
OMIM:611134 |
| Myh9-Related Disease |
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Neutrophil inclusion bodies, Menorrhagia, Congenital thrombocytopenia, Increased mean platelet vo... |
ORPHA:182050 |
| Alg12-Cdg |
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Clinodactyly of the 5th finger, Talipes equinovarus, Muscular ventricular septal defect, Overlapp... |
ORPHA:79324 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
| Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Clinodactyly of the 5th finger, Atrial septal defect, Atrioventricular canal defect, Tetralogy of... |
OMIM:600123 |
| Suleiman-El-Hattab Syndrome |
|
Hirsutism, Atrial septal defect, Thick eyebrow, Brachydactyly, Polydactyly, Frontal hirsutism, Ve... |
OMIM:618950 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
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Mild postnatal growth retardation, Ventricular septal defect, Pericardial lymphangiectasia, Umbil... |
OMIM:235510 |
| Split-Hand/Foot Malformation 6 |
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Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly |
OMIM:225300 |
| 3Mc Syndrome 1 |
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Growth delay, Wide anterior fontanel, Clinodactyly of the 5th finger, Atrial septal defect, Super... |
OMIM:257920 |
| Contractural Arachnodactyly, Congenital |
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Bicuspid aortic valve, Atrial septal defect, Talipes equinovarus, Adducted thumb, Arachnodactyly,... |
OMIM:121050 |
| Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect, Encephalocele |
ORPHA:398156 |
| Isolated Split Hand-Split Foot Malformation |
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Split hand, Absent hand, Oligodactyly, Finger syndactyly |
ORPHA:2440 |
| Congenitally Corrected Transposition Of The Great Arteries |
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Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... |
ORPHA:216694 |
| Testicular Agenesis |
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Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... |
ORPHA:325124 |
| Kury-Isidor Syndrome |
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Hypertrichosis, Talipes equinovarus, Alopecia, Brachydactyly, Ventricular septal defect, Rocker b... |
OMIM:619762 |
| Hand-Foot-Genital Syndrome |
|
Short distal phalanx of finger, Miscarriage, Clinodactyly of the 5th finger, Short 1st metacarpal... |
ORPHA:2438 |
| Tatton-Brown-Rahman Syndrome |
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Atrial septal defect, Tricuspid regurgitation, Thick eyebrow, Mitral regurgitation, Ventricular s... |
OMIM:615879 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia, Pancytopenia |
OMIM:613839 |
| Gm1 Gangliosidosis |
|
Hirsutism, Generalized hirsutism, Cognitive impairment, Short stature, Camptodactyly of finger, H... |
ORPHA:354 |
