| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Edema |
OMIM:613267 |
| Testicular Torsion |
|
Torsion of appendix of testis, Testicular torsion |
OMIM:187400 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
| Angioedema, Hereditary, 6 |
|
Angioedema, Edema of the dorsum of hands, Facial edema |
OMIM:619363 |
| Lymphatic Malformation 11 |
|
Lymphedema, Pedal edema |
OMIM:619401 |
| Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
| Thrombocytopenia 4 |
|
Thrombocytopenia |
OMIM:612004 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia, Ambiguous genitalia |
OMIM:209970 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Cryptorchidism, Micropenis, Congenital adrenal hypoplasia |
OMIM:202150 |
| 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 |
| Thrombocytopenia 2 |
|
Thrombocytopenia |
OMIM:188000 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
| Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
|
Macrothrombocytopenia |
OMIM:613112 |
| Angioedema, Hereditary, 5 |
|
Angioedema, Edema of the dorsum of hands, Facial edema |
OMIM:619361 |
| Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Cryptorchidism, Microphallus, Primary amenorrhea, Absence of pubertal development, Hypogonadotrop... |
OMIM:614840 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Pancytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Cryptorchidism, Ambiguous genitalia, Microphallus, Perineal hypospadias, Testicular dysgenesis, M... |
OMIM:615542 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... |
OMIM:619130 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia |
OMIM:124900 |
| Angioedema, Hereditary, 8 |
|
Laryngeal edema, Angioedema, Edema of the dorsum of hands, Facial edema |
OMIM:619367 |
| Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin |
ORPHA:231393 |
| Pancytopenia And Occlusive Vascular Disease |
|
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia |
OMIM:167850 |
| Partial Chromosome Y Deletion |
|
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... |
ORPHA:1646 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets, Abnormality of the endocrine system |
OMIM:608404 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Short stature, Intrauterine growth retardatio... |
ORPHA:1937 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Oligodactyly, Atrial septal defect, Clinodactyly of the 3rd toe, Intrauterine growth retardation,... |
ORPHA:521308 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... |
OMIM:619271 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate pro... |
ORPHA:67044 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... |
OMIM:187800 |
| Lymphedema-Cerebral Arteriovenous Anomaly Syndrome |
|
Lymphedema |
ORPHA:86914 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy, Pure red cell aplasia, Anemia |
OMIM:618165 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Sandal gap, S... |
ORPHA:2515 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Shor... |
OMIM:615297 |
| Fibular Hemimelia |
|
Hip subluxation, Bowing of the legs, Abnormality of fibula morphology, Arthralgia of the hip, Ect... |
ORPHA:93323 |
| Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... |
ORPHA:983 |
| 46,Xx Testicular Disorder Of Sex Development |
|
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries |
ORPHA:393 |
| Polyhydramnios, Chronic Idiopathic |
|
Polyhydramnios |
OMIM:263610 |
| Chilblain Lupus 2 |
|
Edema |
OMIM:614415 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia, Menorrhagia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia, Menorrhagia |
OMIM:613554 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Thrombocytopenia, Hepatosplenomegaly, Anemia |
OMIM:610539 |
| Fetal Minoxidil Syndrome |
|
Generalized hirsutism, Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect |
OMIM:607941 |
| Eosinophilia, Familial |
|
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia |
OMIM:131400 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Thrombocytopenia, Testicular atrophy, Pancytopenia |
OMIM:613987 |
| Feingold Syndrome 2 |
|
3-4 toe syndactyly, Ventricular septal defect, Short middle phalanx of the 2nd finger, 2-3 toe sy... |
OMIM:614326 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Macular Dystrophy, Dominant Cystoid |
|
Edema, Cystoid macular edema |
OMIM:153880 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Abnormality of the menstrual cycle, Abnormal thrombocyte morphology, Splenomegaly |
ORPHA:721 |
| Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
| Sonoda Syndrome |
|
High axial triradius, Short stature, Ventricular septal defect |
OMIM:270460 |
| Platelet Signal Processing Defect |
|
Impaired epinephrine-induced platelet aggregation, Thrombocytopenia, Impaired ADP-induced platele... |
OMIM:173590 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Wolff-Parkinson-White syndrome, Short stature, Ventricular septal hype... |
OMIM:614947 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Anemia, Splenomegaly, Leukemia |
OMIM:133180 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... |
ORPHA:52901 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Decreased testicular size, Thrombocytopenia |
OMIM:601815 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrocele testis, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia |
OMIM:616738 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume |
OMIM:252270 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Ventricular septal defect, Short middle phalanx of finger, Short thumb, Short sta... |
ORPHA:391646 |
| Catel-Manzke Syndrome |
|
Highly arched eyebrow, Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, ... |
ORPHA:1388 |
| Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Disproportionate short stature, Abnormal mitral valve morphology, Abnormal ... |
ORPHA:1354 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia |
OMIM:615285 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Hand polydactyly, Ventricular septal defect, Patent ductus arteriosus, Pulm... |
OMIM:249670 |
| Lymphatic Malformation 8 |
|
Polyhydramnios, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Generalized edema |
OMIM:618773 |
| Lymphatic Malformation 3 |
|
Lymphedema |
OMIM:613480 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Tetralogy of Fallot, Split foot, Hypoplastic right heart, Ventricular septal defect |
OMIM:601348 |
| Santos Syndrome |
|
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... |
OMIM:613005 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect |
OMIM:122850 |
| Macrothrombocytopenia and progressive sensorineural deafness |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia |
OMIM:600208 |
| Sebastian syndrome |
|
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets |
OMIM:605249 |
| Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
| 46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Cryptorchidism, Ambiguous genitalia, Urogenital sinus anomaly, Ambiguous genitalia, male, Bifid s... |
ORPHA:753 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries |
ORPHA:242 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis |
OMIM:616030 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
| Filippi Syndrome |
|
Cutaneous syndactyly, Sparse hair, Ventricular septal defect, Finger clinodactyly, Postnatal grow... |
OMIM:272440 |
| Glaucoma 3, Primary Congenital, E |
|
Edema |
OMIM:617272 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... |
OMIM:300835 |
| Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:615715 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect, Growth delay, Postaxial oligodactyly, Aplasia/Hypoplasia of the fibula, Sho... |
ORPHA:52056 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Hydrops Fetalis, Nonimmune |
|
Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:236750 |
| Wt Limb-Blood Syndrome |
|
Cryptorchidism, Thrombocytopenia, Hypoplastic anemia, Pancytopenia, Leukemia |
OMIM:194350 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Isolated Splenogonadal Fusion |
|
Hydrocele testis, Abnormality of the scrotum, Abnormal penis morphology, Polysplenia, Bilateral c... |
ORPHA:457083 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... |
OMIM:619041 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Menorrhagia, Anemia, Macrothrombocytopenia |
OMIM:616176 |
| Stt3B-Cdg |
|
Thrombocytopenia, Cryptorchidism, Scrotal hypoplasia, Micropenis |
ORPHA:370924 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Death in infancy, Ventricular septal defect |
OMIM:614876 |
| Brachydactyly-Syndactyly Syndrome |
|
Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,... |
OMIM:610713 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia |
ORPHA:517 |
| Lig4 Syndrome |
|
Cryptorchidism, Amenorrhea, Hypothyroidism, Thrombocytopenia, Pancytopenia, Micropenis |
OMIM:606593 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Atrial septal defect, Short phalanx of finger, Ventricular septal defect, Camptodactyly, Short to... |
OMIM:613458 |
| Kennedy Disease |
|
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus |
ORPHA:481 |
| Pallister-Hall Syndrome |
|
Oligodactyly, Short 4th metacarpal, Postaxial hand polydactyly, Y-shaped metacarpals, Toe syndact... |
OMIM:146510 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Thrombocytopenia, Leukocyte inclusion bodies, Menorrhagia, Giant platelets, Neutrophil inclusion ... |
OMIM:155100 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Arrhythmia, Oligohydramnios, Ventricular septal defect, Patent ductus arteriosus, Hypertension, I... |
OMIM:617021 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Oligodactyly, Absent forearm, Wide anterior fontanel, Overlapping toe, Fibular hypoplasia, Clinod... |
OMIM:201170 |
| 14Q11.2 Microdeletion Syndrome |
|
Highly arched eyebrow, Toe syndactyly, Ventricular septal defect, Patent ductus arteriosus, Spars... |
ORPHA:261120 |
| Mmep Syndrome |
|
Triphalangeal thumb, Split foot, Ventricular septal defect |
ORPHA:3434 |
| Fanconi Anemia, Complementation Group T |
|
Thrombocytopenia, Pancytopenia, Anemia |
OMIM:616435 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
| Refractory Anemia |
|
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... |
ORPHA:98826 |
| Left Ventricular Noncompaction 1 |
|
Ventricular arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Atrial fibrillation,... |
OMIM:604169 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Neutropenia, Anemia |
OMIM:614082 |
| Desbuquois Syndrome |
|
Abnormal femoral neck/head morphology, Camptodactyly of finger, Sparse hair, Radioulnar synostosi... |
ORPHA:1425 |
| Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
| 46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Cryptorchidism, Ambiguous genitalia, Infertility, Hypothyroidism, Abnormality of the urethra, Mal... |
ORPHA:752 |
| Choanal Atresia And Lymphedema |
|
Lymphedema, Pericardial effusion |
OMIM:613611 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect |
OMIM:601127 |
| Lymphatic Malformation 9 |
|
Predominantly lower limb lymphedema |
OMIM:619319 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair |
|
Sparse eyebrow, Sparse hair, Ventricular septal defect, Short stature, Sparse eyelashes |
OMIM:616901 |
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Highly arched eyebrow, Atrial septal defect, Sparse eyebrow, Broad thumb, Ventricular septal defe... |
OMIM:600987 |
| Cernunnos-Xlf Deficiency |
|
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia |
ORPHA:169079 |
| Postaxial Tetramelic Oligodactyly |
|
Oligodactyly, Abnormality of the metacarpal bones, Ectrodactyly, Abnormality of finger |
ORPHA:2730 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Prominent eyelashes, Postnatal growth re... |
OMIM:616651 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia |
ORPHA:231401 |
| Polycythemia Vera |
|
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... |
OMIM:263300 |
| Brachydactyly, Type B1 |
|
Broad thumb, Wide anterior fontanel, Ventricular septal defect, Short middle phalanx of finger, A... |
OMIM:113000 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Hydrops fetalis, Oligohydramnios, Ventricular septal defect, Cardiomyopathy |
ORPHA:1909 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Oligodactyly, Split hand, Talipes equinovarus, Brachydactyly, Ectrodactyly |
OMIM:612576 |
| Lymphedema And Cerebral Arteriovenous Anomaly |
|
Lymphedema |
OMIM:152900 |
| Specific Granule Deficiency 2 |
|
Thrombocytopenia, Absent neutrophil specific granules, Neutropenia, Anemia |
OMIM:617475 |
| Ventricular Septal Defect 1 |
|
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:614429 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... |
ORPHA:75564 |
| Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Broad thumb, Radioulnar synostosis, Vent... |
ORPHA:392 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Atopic dermatitis, Overlapping toe, Ventricular septal defect, Camptodactyl... |
OMIM:614262 |
| 46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Ambiguous genitalia, Male pseudohermaphroditism |
OMIM:614279 |
| 8P23.1 Duplication Syndrome |
|
Highly arched eyebrow, Toe syndactyly, Ventricular septal defect, Pulmonic stenosis, Tetralogy of... |
ORPHA:251076 |
| Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Bilateral single transverse palmar creases, Intrau... |
ORPHA:2516 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
| Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect |
OMIM:616277 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal ... |
OMIM:615779 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia, Cryptorchidism, Scrotal hypoplasia, Micropenis |
OMIM:615597 |
| Megabladder, Congenital |
|
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... |
OMIM:618719 |
| Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... |
ORPHA:521 |
| Thyrocerebrorenal Syndrome |
|
Thrombocytopenia, Euthyroid goiter |
ORPHA:3327 |
| Catel-Manzke Syndrome |
|
Ventricular septal defect, Camptodactyly, Ulnar deviation of the 2nd finger, Hyperphalangy of the... |
OMIM:616145 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
| Sandestig-Stefanova Syndrome |
|
Highly arched eyebrow, Rocker bottom foot, Camptodactyly, Sparse medial eyebrow, Laterally extend... |
OMIM:618804 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Truncus arteriosus, Ventricular septal defect, Mesomelia, Hypoplasia of the ulna, Neonatal death,... |
OMIM:228940 |
| +173470 integrin, beta-3 |
|
Impaired platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Menorrhagia, Post-transf... |
OMIM:173470 |
| Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations |
|
Death in childhood, Ventricular septal defect |
OMIM:613759 |
| Coffin-Siris Syndrome 10 |
|
Clinodactyly, Ventricular septal defect |
OMIM:618506 |
| Lymphatic Malformation 7 |
|
Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fetalis, Pulmonary edema |
OMIM:617300 |
| Thrombocytopenia 5 |
|
Thrombocytopenia, Neutropenia, Anemia |
OMIM:616216 |
| Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Thrombocytopenia, Lymphopenia, Hemolytic anemia, Genital ulcers |
OMIM:616744 |
| Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
| Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Atrial septal defect, Preaxial hand polydactyly, Abnormal hair morphology, Ventricular septal def... |
OMIM:608406 |
| Joubert Syndrome 18 |
|
Intrauterine growth retardation, Camptodactyly, Polydactyly, Ventricular septal defect |
OMIM:614815 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Low anterior hairline, Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping fingers, Highly arched eyebrow, Atrial septal defect, Ventricular septal defect, Prea... |
OMIM:618142 |
| Atypical Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
| Leydig Cell Hypoplasia |
|
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... |
ORPHA:755 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Abnormal cardiac septum morphology, Postaxial hand polydactyly, Ventricular... |
ORPHA:83473 |
| Li-Campeau Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Thick eyebrow, Hypertr... |
OMIM:619189 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
| Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia, Cryptorchidism, Ambiguous genitalia |
ORPHA:1237 |
| Ritscher-Schinzel Syndrome 2 |
|
Atrial septal defect, Overlapping toe, Ventricular septal defect, Growth delay, Camptodactyly, Pa... |
OMIM:300963 |
| Microcephaly-Micromelia Syndrome |
|
Oligodactyly, Humeroradial synostosis, Oligohydramnios, Forearm undergrowth, Absent radius, Intra... |
OMIM:251230 |
| Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Neutropenia, Thrombocytopenia, Sideroblastic anemia, Diabetes insipidus, Di... |
OMIM:598500 |
| Grange Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Syndacty... |
ORPHA:79094 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... |
OMIM:159550 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... |
ORPHA:2138 |
| Cenani-Lenz Syndrome |
|
Oligodactyly, Hypoplasia of the radius, Toe syndactyly, Radioulnar synostosis, Elbow dislocation,... |
ORPHA:3258 |
| Timothy Syndrome |
|
Cutaneous syndactyly, Ventricular septal defect, Patent ductus arteriosus, Syndactyly, Cardiomega... |
OMIM:601005 |
| Recombinant Chromosome 8 Syndrome |
|
Atrial septal defect, Ventricular septal defect, Growth delay, Camptodactyly, Patent ductus arter... |
OMIM:179613 |
| Isolated Klippel-Feil Syndrome |
|
Spina bifida, Ventricular septal defect, Cognitive impairment, Abnormal shoulder morphology, Low ... |
ORPHA:2345 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
| Noonan Syndrome 8 |
|
Polyhydramnios, Atrial septal defect, Ventricular septal defect, Palmoplantar cutis laxa, Pleural... |
OMIM:615355 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Goiter |
OMIM:274240 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect |
ORPHA:2476 |
| Bernard-Soulier Syndrome |
|
Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Menorrhagia, Giant platelets |
OMIM:231200 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormality of the metacarpal bones, Clinodactyly of the 5th finger, Hand oligodactyly, Abnormali... |
ORPHA:3104 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Oligodactyly, Tarsal synostosis, Aplasia/Hypoplasia of the radius, Abnormality of the metacarpal ... |
ORPHA:1307 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Impaired platelet aggregation, Thrombocytopenia, Menorrhagia |
OMIM:617443 |
| Quebec Platelet Disorder |
|
Impaired epinephrine-induced platelet aggregation, Thrombocytopenia, Menorrhagia |
OMIM:601709 |
| Beta-Thalassemia |
|
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Anemia, Splenomegaly, Hypogonadotropic hypog... |
ORPHA:848 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Oligodactyly, Humeroradial synostosis, Arachnodactyly |
OMIM:614416 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Mcdonough Syndrome |
|
Atrial septal defect, Sparse hair, Ventricular septal defect, Synophrys, Radial deviation of fing... |
OMIM:248950 |
| Xk Aprosencephaly Syndrome |
|
Polyhydramnios, Abnormal morphology of the radius, Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
| Fechtner syndrome |
|
Thrombocytopenia, Leukocyte inclusion bodies, Menorrhagia, Giant platelets, Neutrophil inclusion ... |
OMIM:153640 |
| Noonan Syndrome 12 |
|
Polyhydramnios, Atopic dermatitis, Ventricular septal defect, Supravalvular aortic stenosis, Tetr... |
OMIM:618624 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... |
OMIM:614980 |
| Ulnar Hemimelia |
|
Radial club hand, Short forearm, Spinal dysraphism, Duplication of phalanx of 3rd finger, Aplasia... |
ORPHA:93320 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Limited elbow extension, Genu valgum, Atrial septal defect, Scapular winging, Finger joint hyperm... |
OMIM:618870 |
| Tetragametic Chimerism |
|
Cryptorchidism, Abnormality of the ovary, Ambiguous genitalia, Ovotestis, Abnormality of the scro... |
ORPHA:199310 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
| Ritscher-Schinzel Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... |
OMIM:220210 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Dislocated radial head, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abno... |
ORPHA:401935 |
| Orofaciodigital Syndrome Type 10 |
|
Mesomelic arm shortening, Radial deviation of the hand, Prominent calcaneus, Oligodactyly, Tarsal... |
ORPHA:2756 |
| Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Atrial septal defect, Overlapping toe, Abnormal heart morphology, High anterior hairline, Camptod... |
ORPHA:363444 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Intrauterine growth retardation, Disproportion... |
ORPHA:2772 |
| Tetramelic Monodactyly |
|
Oligodactyly, Split hand |
ORPHA:2564 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Highly arched eyebrow, Ventricular septal defect, Abnormal heart morphology, Patent ductus arteri... |
ORPHA:500159 |
| Polysyndactyly With Cardiac Malformation |
|
Polyhydramnios, Preaxial hand polydactyly, Atrial septal defect, Stillbirth, Ventricular septal d... |
OMIM:263630 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Polyhydramnios, Ventricular septal defect, Abnormal heart morphology, Large placenta, Postnatal g... |
ORPHA:254534 |
| Bartsocas-Papas Syndrome 1 |
|
Oligodactyly, Talipes equinovarus, Absent eyelashes, Short phalanx of finger, Hypoplastic scapula... |
OMIM:263650 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Overlapping fingers, Highly arched eyebrow, Atrial septal defect, Cutaneous syndactyly, Overlappi... |
OMIM:618316 |
| Congenital Rubella Syndrome |
|
Skin rash, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Abnormality... |
ORPHA:290 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Oligodactyly, Absent hand, Atrial septal defect, Truncus arteriosus, Abnormality of finger, Elbow... |
ORPHA:2538 |
| Amed Syndrome, Digenic |
|
Adrenal hypoplasia, Hypoplasia of the uterus, Thrombocytopenia, Acute myeloid leukemia, Anemia, L... |
OMIM:619151 |
| Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... |
OMIM:617912 |
| Diamond-Blackfan Anemia 6 |
|
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Growth delay, Mitral re... |
OMIM:612561 |
| Pelger-Huet Anomaly |
|
Short 4th metacarpal, Short 3rd metacarpal, Upper limb undergrowth, Mild short stature, Ventricul... |
OMIM:169400 |
| Transcobalamin Deficiency |
|
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia |
ORPHA:859 |
| Ulnar/Fibular Ray Defect And Brachydactyly |
|
Atrial septal defect, Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Short stature, ... |
OMIM:608571 |
| Carpenter Syndrome 1 |
|
Flared iliac wing, Camptodactyly, Patent ductus arteriosus, Metatarsus adductus, Spina bifida occ... |
OMIM:201000 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Overlapping toe, Ventricular septal defect, Patent ductus arteriosus, Clino... |
OMIM:618974 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cryptorchidism, Thiamine-responsive megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia,... |
OMIM:249270 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hydrops fetalis, Endocardial fibroelastosis, Aplasia of the ulna, Neonatal death, Hand oligodactyly |
OMIM:276822 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Polyhydramnios, Aplasia of the proximal phalanges of the hand, Finger syndactyly, Ventricular sep... |
ORPHA:2256 |
| 16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Hand polydactyly, Ventricular septal defect, Tetralogy of Fallot, Arachnoda... |
ORPHA:261243 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Abnormal vagina morphology, Anemia |
ORPHA:2123 |
| Transaldolase Deficiency |
|
Thrombocytopenia, Hepatosplenomegaly, Abnormality of the clitoris, Anemia |
ORPHA:101028 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly |
OMIM:603552 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Congestive heart ... |
ORPHA:49827 |
| Weill-Marchesani Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Short stature, Short thumb, ... |
ORPHA:3449 |
| Woods Syndrome |
|
Limited elbow extension, Ventricular septal defect, 3-4 finger cutaneous syndactyly, Frontal hirs... |
OMIM:615236 |
| Malaria |
|
Thrombocytopenia, Anemia |
ORPHA:673 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Highly arched eyebrow, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia... |
ORPHA:94066 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Fifth finger distal phalanx clinodactyly, Short stature, Postnatal growth retardation, Ventricula... |
ORPHA:3369 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly |
OMIM:314050 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal defect |
OMIM:235750 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormality of epiphysis morphology, Ventricular septal defect, Rhizomelia, Bowing of the long bo... |
ORPHA:93267 |
| Poland Syndrome |
|
Hypoplasia of deltoid muscle, Unilateral brachydactyly, Dextrocardia, Syndactyly, Unilateral olig... |
OMIM:173800 |
| Galloway-Mowat Syndrome 7 |
|
Cubitus valgus, Ventricular septal defect, Partial duplication of thumb phalanx, Clinodactyly, Ed... |
OMIM:618348 |
| Hadziselimovic Syndrome |
|
Low anterior hairline, Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, ... |
OMIM:612946 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrocardia, Ventricular septal defect |
OMIM:613751 |
| Holt-Oram Syndrome |
|
Secundum atrial septal defect, Patent ductus arteriosus, Partial duplication of thumb phalanx, Ab... |
OMIM:142900 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypopla... |
ORPHA:1209 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Low anterior hairline, Highly arched eyebrow, Atrial septal defect, Broad thumb, Ventricular sept... |
ORPHA:329224 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Clinodactyly of the 5th finger, Short stature, Ventricular septal defect |
OMIM:314320 |
| Trisomy 13 |
|
Atrial septal defect, Hydrops fetalis, Postaxial hand polydactyly, Ventricular septal defect, Abn... |
ORPHA:3378 |
| Tyshchenko Syndrome |
|
Polyhydramnios, Low anterior hairline, Atrial septal defect, Ventricular septal defect, Thick hai... |
OMIM:615102 |
| Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Ventricular septal defect, Foot oligodactyly, Tricuspid regurgitation, Syndac... |
OMIM:616589 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Contractures of the interphalangeal joint of the thumb, Ventricular septal ... |
OMIM:613870 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Broad thumb, Ventricular septal defect, Large hands, Umbilical hernia, Bilateral single transvers... |
ORPHA:1770 |
| Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal hair whorl, Short distal phalanx of fin... |
OMIM:614261 |
| Filippi Syndrome |
|
Ventricular septal defect, Enlarged epiphyses, Finger syndactyly, Growth delay, Severe short stat... |
ORPHA:3255 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Acrorenal Syndrome |
|
Hand oligodactyly |
OMIM:102520 |
| 8Q12 Microduplication Syndrome |
|
Highly arched eyebrow, Atrial septal defect, Short foot, Ventricular septal defect |
ORPHA:228399 |
| Fetal Trimethadione Syndrome |
|
Atrial septal defect, Ventricular septal defect, Synophrys, Bilateral single transverse palmar cr... |
ORPHA:1913 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Polyhydramnios, Lymphedema, Edema, Facial edema |
OMIM:618154 |
| Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Atrial septal defect, Truncus arteriosus, Toe syndactyly, Ventricular se... |
ORPHA:2008 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Impaired platelet aggregation, Acute monocytic leukemia, Abnormal alpha granule content, Abnormal... |
OMIM:601399 |
| Donnai-Barrow Syndrome |
|
Widow's peak, Wide anterior fontanel, Umbilical hernia, Ventricular septal defect |
ORPHA:2143 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Hydrops fetalis, Short femur, Ventricular septal defect, Pleural effusion, Limb u... |
OMIM:616897 |
| Phaver Syndrome |
|
Triphalangeal thumb, Camptodactyly of finger, Broad thumb, Radioulnar synostosis, Ventricular sep... |
ORPHA:2876 |
| Cornelia De Lange Syndrome |
|
Elbow dislocation, Bilateral single transverse palmar creases, Increased nuchal translucency, Del... |
ORPHA:199 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Low anterior hairline, Short 3rd toe, Short 3rd metacarpal, Short 4th metacarpal, Dry hair, Intri... |
OMIM:618569 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Intrauterine growth retard... |
OMIM:612938 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Pierre Robin Syndrome And Oligodactyly |
|
Hand oligodactyly |
OMIM:172880 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... |
OMIM:308700 |
| Pallister-Hall Syndrome |
|
Broad thumb, Patent ductus arteriosus, Supernumerary metacarpal bones, 3-4 finger cutaneous synda... |
ORPHA:672 |
| Transaldolase Deficiency |
|
Atrial septal defect, Wide anterior fontanel, Oligohydramnios, Ventricular septal defect, Patent ... |
OMIM:606003 |
| Preeclampsia |
|
Thrombocytopenia, Type I diabetes mellitus, Polycystic ovaries |
ORPHA:275555 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Proportionate short stature, Ventricular septal defect, Patent ductus arter... |
OMIM:617044 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Syndactyly, Ventricular septal defect |
OMIM:602501 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Short distal phalanx of finger, Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
| Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Ventricular septal defect, Curly hair, Pulmonic stenosis, Short stature, Hy... |
OMIM:615279 |
| Leigh Syndrome With Leukodystrophy |
|
Ventricular septal defect, Hypertrichosis, Hypertrophic cardiomyopathy |
ORPHA:255241 |
| Yellow Nail Syndrome |
|
Lymphedema, Predominantly lower limb lymphedema |
OMIM:153300 |
| Wolfram Syndrome 1 |
|
Megaloblastic anemia, Hypothyroidism, Sideroblastic anemia, Thrombocytopenia, Testicular atrophy,... |
OMIM:222300 |
| Char Syndrome |
|
Hand polydactyly, Toe syndactyly, Ventricular septal defect, Supernumerary nipple, Patent ductus ... |
ORPHA:46627 |
| Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Ventricular septal defect |
OMIM:615524 |
| Fanconi Anemia, Complementation Group V |
|
Thrombocytopenia, Neutropenia, Anemia |
OMIM:617243 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Congenital adrenal hyperplasia, Thrombocytopenia, Clitoral hypertrophy, Spontan... |
ORPHA:96181 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... |
OMIM:308750 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules |
ORPHA:238459 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Umbilical hernia, Abnormal hip bone morpholog... |
ORPHA:1488 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Abnormality of the palmar creases, Ventricular septal defect, Patent ductus... |
OMIM:618652 |
| Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay |
|
Metaphyseal widening, Ventricular septal defect, Rhizomelia, 2-3 toe syndactyly, Short stature, I... |
OMIM:617164 |
| Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Leukopenia |
OMIM:614171 |
| Tibial Hemimelia |
|
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... |
ORPHA:93322 |
| Fadd-Related Immunodeficiency |
|
Ventricular septal defect |
ORPHA:306550 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Abnormal hip bone morphology, Short stature, Ventricular septal defect |
ORPHA:1166 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Seborrheic dermatitis, Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Death in inf... |
OMIM:274000 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Low anterior hairline, Horizontal eyebrow, Ventricular septal defect, Abnormal heart morphology, ... |
ORPHA:369891 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Thrombocytopenia, Chronic neutropenia |
OMIM:619301 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Acanthocytosis, Congenital thrombocytopenia, Poikilocytosis, Anemia of inadequate production |
OMIM:300367 |
| 3C Syndrome |
|
Atrial septal defect, Hand polydactyly, Ventricular septal defect, Abnormal mitral valve morpholo... |
ORPHA:7 |
| Warsaw Breakage Syndrome |
|
Ventricular septal defect, 2-3 toe syndactyly, Clinodactyly, Intrauterine growth retardation, Tet... |
OMIM:613398 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly |
OMIM:613101 |
| Insulin-Like Growth Factor I, Resistance To |
|
Highly arched eyebrow, Atrial septal defect, Ventricular septal defect, Synophrys, Intrauterine g... |
OMIM:270450 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Postaxial hand polydactyly, Ventricular septal defect, Coarse hair, Brittle... |
ORPHA:75389 |
| Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Impaired colla... |
OMIM:139090 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Ventricular septal defect, Finger syndactyly, Spinal dysraphism, Mesomeli... |
ORPHA:1908 |
| Lambotte Syndrome |
|
Intrauterine growth retardation, Preaxial foot polydactyly, Ventricular septal defect |
OMIM:245552 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Talipes equinovarus, Ventricular septal defect |
OMIM:209770 |
| Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Split hand, Foot oligodactyly, Clinodactyly, Syndactyly, Hand oligodactyly, ... |
OMIM:183600 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Growth delay, 2-3 toe syndactyly, Synophrys, Talipes equinovarus, Tetr... |
ORPHA:3306 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hirsutism, Patent ductus arteriosus, Laterally extended eyebrow, Low anterior hairline, Synophrys... |
OMIM:610759 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overlapping fingers, Hydrops fetalis, Oligohydramnios, Ventricular septal defect, Cardiomegaly, O... |
OMIM:617022 |
| Prune Belly Syndrome |
|
Atrial septal defect, Congenital hip dislocation, Oligohydramnios, Ventricular septal defect, Pat... |
ORPHA:2970 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Abnormal heart morphology, Patent ductus arte... |
ORPHA:284169 |
| 19Q13.11 Microdeletion Syndrome |
|
Toe syndactyly, Sparse hair, Congenital hip dislocation, Ventricular septal defect, Finger syndac... |
ORPHA:217346 |
| Mosaic Trisomy 9 |
|
Polyhydramnios, Rocker bottom foot, Spina bifida, Atrial septal defect, Hydrops fetalis, Deep pal... |
ORPHA:99776 |
| Kapur-Toriello Syndrome |
|
Overlapping fingers, Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Pa... |
OMIM:244300 |
| Teebi Hypertelorism Syndrome |
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Highly arched eyebrow, Atrial septal defect, Ventricular septal defect, Broad palm, Widow's peak,... |
OMIM:145420 |
| Immunodeficiency 46 |
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Intermittent thrombocytopenia, Neutropenia, Anemia |
OMIM:616740 |
| Chromosome 15Q14 Deletion Syndrome |
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Highly arched eyebrow, Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
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Pericardial effusion, Hirsutism, Camptodactyly, Bilateral single transverse palmar creases, Erysi... |
OMIM:235510 |
| Thrombocytopenia 3 |
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Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
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Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
| Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
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Aplasia of the 1st metacarpal, Atrial septal defect, Ventricular septal defect, Hypoplasia of the... |
OMIM:600123 |
| Idiopathic Aplastic Anemia |
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Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia |
ORPHA:88 |
| 3P25.3 Microdeletion Syndrome |
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2-3 finger syndactyly, Atrial septal defect, Broad thumb, Overlapping toe, Ventricular septal def... |
ORPHA:435638 |
| Sengers Syndrome |
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Thrombocytopenia |
OMIM:212350 |
| Osteopetrosis, Autosomal Recessive 8 |
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Thrombocytopenia, Anemia, Splenomegaly |
OMIM:615085 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
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Atrial septal defect, Oligohydramnios, Ventricular septal defect, Lymphedema, Atrial flutter, Pat... |
OMIM:601927 |
| 19P13.12 Microdeletion Syndrome |
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Generalized hirsutism, Deep palmar crease, Atrial septal defect, Arrhythmia, Aortic regurgitation... |
ORPHA:254346 |
| Ventricular Septal Defect 3 |
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Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
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Thrombocytopenia, Cryptorchidism, Neutropenia, Anemia |
OMIM:614857 |
| Congenital Disorder Of Glycosylation, Type Ih |
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Thrombocytopenia, Cryptorchidism, Hypothyroidism, Anemia |
OMIM:608104 |
| Myh9-Related Disease |
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Congenital thrombocytopenia, Increased mean platelet volume, Menorrhagia, Giant platelets, Neutro... |
ORPHA:182050 |
| Congenital Disorder Of Glycosylation, Type Iil |
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Peau d'orange, Hip dysplasia, Atrial septal defect, Ventricular septal defect, Growth delay, Pate... |
OMIM:614576 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... |
OMIM:228930 |
| Hypotonia, Infantile, With Psychomotor Retardation |
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Ventricular septal defect |
OMIM:616816 |
| Chromosome 18Q Deletion Syndrome |
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Low anterior hairline, Rocker bottom foot, Atrial septal defect, Atopic dermatitis, Toe syndactyl... |
OMIM:601808 |
| Testicular Agenesis |
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Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Absent tes... |
ORPHA:325124 |
| 19P13.3 Microduplication Syndrome |
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Hip dysplasia, Hip subluxation, Ventricular septal defect, Growth delay, Pulmonary arterial hyper... |
ORPHA:447980 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
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Highly arched eyebrow, Atrial septal defect, Broad thumb, Toe syndactyly, Overlapping toe, Ventri... |
ORPHA:505237 |
| Genitopalatocardiac Syndrome |
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Double outlet right ventricle, Transposition of the great arteries, Ventricular septal defect |
OMIM:231060 |
| 3Mc Syndrome 1 |
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Conjunctival telangiectasia, Highly arched eyebrow, Atrial septal defect, Wide anterior fontanel,... |
OMIM:257920 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
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Atrial septal defect, Ventricular septal defect, Curly hair, Camptodactyly, Clinodactyly |
OMIM:617360 |
| Emanuel Syndrome |
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Atrial septal defect, Truncus arteriosus, Congenital hip dislocation, Ventricular septal defect, ... |
OMIM:609029 |
| Gastrointestinal Defects And Immunodeficiency Syndrome |
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Polyhydramnios, Hematochezia, Ventricular septal defect, Intrauterine growth retardation, Psorias... |
OMIM:243150 |
| Bohring-Opitz Syndrome |
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Polyhydramnios, Low anterior hairline, Dislocated radial head, Atrial septal defect, Deep palmar ... |
OMIM:605039 |
| Gm1 Gangliosidosis |
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Generalized hirsutism, Camptodactyly of finger, Hydrops fetalis, Ventricular septal defect, Abnor... |
ORPHA:354 |
| Split-Hand/Foot Malformation 6 |
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Toe syndactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot, Hand oligodactyly |
OMIM:225300 |
| Mosaic Trisomy 16 |
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Atrial septal defect, Short forearm, Ventricular septal defect, Abnormal heart morphology, Large ... |
ORPHA:1708 |
| Bone Marrow Failure Syndrome 4 |
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Thrombocytopenia, Anemia, Leukopenia |
OMIM:618116 |
| Lethal Congenital Contracture Syndrome 2 |
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Dilated cardiomyopathy, Edema, Polyhydramnios, Ventricular septal defect |
OMIM:607598 |
| Kagami-Ogata Syndrome |
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Polyhydramnios, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Limb u... |
OMIM:608149 |
| Keutel Syndrome |
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Ventricular septal defect, Short distal phalanx of finger, Alopecia, Short stature, Pulmonary art... |
ORPHA:85202 |
| Contractural Arachnodactyly, Congenital |
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Limited elbow extension, Talipes equinovarus, Atrial septal defect, Congenital finger flexion con... |
OMIM:121050 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
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Megaloblastic anemia, Thrombocytopenia, Pancytopenia |
OMIM:613839 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
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Hip dysplasia, Atrial septal defect, Ventricular septal defect, Death in infancy, Dehydration, Ri... |
OMIM:208085 |
| 3-Methylglutaconic Aciduria Type 4 |
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Thrombocytopenia |
ORPHA:67048 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
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Metaphyseal chondrodysplasia, Absent eyelashes, Ventricular septal defect, Absent eyebrow, Short ... |
ORPHA:166035 |
| Isolated Split Hand-Split Foot Malformation |
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Oligodactyly, Absent hand, Split hand, Finger syndactyly |
ORPHA:2440 |
| Lymphangiectasia, Pulmonary, Congenital |
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Polyhydramnios, Palpebral edema, Pleural effusion, Pedal edema, Facial edema, Edema, Ascites, Non... |
OMIM:265300 |
| Osteopetrosis, Autosomal Recessive 4 |
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Reticulocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly |
OMIM:611490 |
| Non-Involuting Congenital Hemangioma |
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Thrombocytopenia |
ORPHA:141179 |
| Mirage Syndrome |
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Cryptorchidism, Microphallus, Hypergonadotropic hypogonadism, Lymphopenia, Shawl scrotum, Thrombo... |
OMIM:617053 |
| Long Qt Syndrome 16 |
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Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect, Second de... |
OMIM:618782 |
| Ulnar-Mammary Syndrome |
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Absent hand, Camptodactyly of finger, Arrhythmia, Postaxial hand polydactyly, Abnormality of fing... |
ORPHA:3138 |
| Feingold Syndrome Type 1 |
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Tricuspid atresia, 4-5 toe syndactyly, Toe syndactyly, Abnormal heart morphology, Short middle ph... |
ORPHA:391641 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
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Polyhydramnios, Rocker bottom foot, Deep palmar crease, Postaxial hand polydactyly, Overlapping f... |
OMIM:301056 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
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Genu valgum, Postaxial hand polydactyly, Ventricular septal defect, Short long bone, Short statur... |
OMIM:615630 |
