Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Dextrocardia, Male infertility, Situs inversus totalis |
OMIM:618948 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Oocyte/Zygote/Embryo Maturation Arrest 16 |
|
Infertility |
OMIM:617234 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... |
OMIM:619608 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Situs inversus totalis, Heterotaxy, Polysplenia, Immotile sperm, Reduced sperm ... |
OMIM:613807 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Laterality Defects, Autosomal Dominant |
|
Asplenia, Heterotaxy, Situs inversus totalis |
OMIM:601086 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Abdominal situs ambiguus, Situs inversus totalis, Immotile sperm |
OMIM:614874 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility, Abdominal situs inversus, Dextrocardia, Situs inversus totalis |
OMIM:619607 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility, Situs inversus totalis |
OMIM:300991 |
Ciliary Dyskinesia, Primary, 25 |
|
Dextrocardia, Situs inversus totalis, Gastroesophageal reflux, Infertility, Polysplenia |
OMIM:615482 |
Primary Ciliary Dyskinesia |
|
Male infertility, Atrial situs ambiguous, Abnormal atrial arrangement, Intestinal malrotation, Fe... |
ORPHA:244 |
Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Situs inversus totalis, Azoospermia, Infertility, Atrioventricular canal defect, ... |
OMIM:618300 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Ciliary Dyskinesia, Primary, 12 |
|
Situs inversus totalis, Reduced sperm motility, Immotile sperm |
OMIM:612650 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Hypoglossia With Situs Inversus |
|
Asplenia, Situs inversus totalis, High palate, Polysplenia, Microglossia |
OMIM:612776 |
Ciliary Dyskinesia, Primary, 26 |
|
Situs inversus totalis, Infertility, Reduced sperm motility |
OMIM:615500 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Hypogonadism |
OMIM:615985 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Asplenia, Situs inversus totalis, Atrioventricular canal de... |
OMIM:605376 |
Ciliary Dyskinesia, Primary, 24 |
|
Situs inversus totalis, Infertility |
OMIM:615481 |
Ciliary Dyskinesia, Primary, 22 |
|
Situs inversus totalis, Dextrocardia, Infertility, Reduced sperm motility |
OMIM:615444 |
Ciliary Dyskinesia, Primary, 13 |
|
Situs inversus totalis, Infertility |
OMIM:613193 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Dextrocardia, Infertility |
OMIM:618063 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Asplenia, Situs inversus totalis... |
OMIM:208530 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Ciliary Dyskinesia, Primary, 15 |
|
Situs inversus totalis, Infertility, Immotile sperm |
OMIM:613808 |
Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Dextrocardia, Female infertility |
OMIM:617577 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Cholest... |
OMIM:615415 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella, Situs inversus totalis |
OMIM:620197 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis, Reduced sperm motility |
OMIM:615434 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Situs inversus totalis |
OMIM:612444 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Thiamine... |
OMIM:249270 |
Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Dextrocardia, Infertility |
OMIM:606763 |
Nephronophthisis 16 |
|
Situs inversus totalis, Cholestasis, Periportal fibrosis, Aortic valve stenosis, Pulmonic stenosi... |
OMIM:615382 |
Ciliary Dyskinesia, Primary, 32 |
|
Situs inversus totalis, Infertility |
OMIM:616481 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Male infertility, Situs inversus totalis |
OMIM:244400 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Ciliary Dyskinesia, Primary, 5 |
|
Situs inversus totalis, Reduced sperm motility |
OMIM:608647 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Intestinal malrotation, Malformation of ... |
OMIM:208540 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Cryptorchidism, Cleft palate, Abdominal situs inversus, Pulm... |
OMIM:619123 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Abdominal situs inversus, Tr... |
OMIM:614779 |
Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Hepatomegaly, Gastroesophageal reflux, Situs inversus totalis |
OMIM:619881 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... |
OMIM:616749 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Situs inversus totalis |
OMIM:614935 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... |
ORPHA:210122 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Intestinal malrotation, Asplenia, Partial anomalous pulm... |
OMIM:619657 |
Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Ciliary Dyskinesia, Primary, 35 |
|
Situs inversus totalis, Abdominal situs ambiguus |
OMIM:617092 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Premature ovarian insufficiency, Female hypogonadis... |
OMIM:240300 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Hemolytic anemia, Elevated circulating aspartate aminotransferase concentration, As... |
OMIM:614034 |
Dextrocardia |
|
Meckel diverticulum, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormality of... |
ORPHA:1666 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Dextrocardia, Intestinal malrotation, Duodenal stenosis, Abnormal tricuspid valve m... |
ORPHA:1759 |
Nephronophthisis 14 |
|
Situs inversus totalis |
OMIM:614844 |
Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Dextrocardia |
OMIM:611884 |
Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis |
OMIM:608644 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:614679 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Intestinal malrotation,... |
ORPHA:99776 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Cryptorchidism, High palate, Dextrocardia, Anal atresia |
ORPHA:2863 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis |
OMIM:620032 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Flat occiput, Microcephaly, Brachycephaly, Plagiocephaly, Bradycardia |
ORPHA:2898 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Situs inversus totalis, Biliary cirrhosis, Cholestasis, He... |
OMIM:267010 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Hypogonadism, Dextrocardia |
OMIM:615994 |
Spondylometaphyseal Dysplasia, Axial |
|
Splenomegaly, Reduced sperm motility |
OMIM:602271 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hepatic cysts |
OMIM:613095 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Ciliary Dyskinesia, Primary, 23 |
|
Situs inversus totalis |
OMIM:615451 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Cryptorchidism, Ano... |
ORPHA:3097 |
Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis |
OMIM:614017 |
Heterotaxy, Visceral, 5, Autosomal |
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Right atrial isomerism, Ventricular septal defect, Dextrocardia, Intestinal malrotation, Asplenia... |
OMIM:270100 |
Developmental And Epileptic Encephalopathy 66 |
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Ventricular septal defect, Dextrocardia, Cryptorchidism, Neutropenia, Atrial septal defect, Anemia |
OMIM:618067 |
Sweeney-Cox Syndrome |
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Asplenia, Bilateral cryptorchidism, Velopharyngeal insufficiency, High palate, Gastroesophageal r... |
OMIM:617746 |
Spinocerebellar Ataxia Type 32 |
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Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Meckel Syndrome |
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Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Asplenia, Congenital hep... |
ORPHA:564 |
Ciliary Dyskinesia, Primary, 30 |
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Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Heterotaxy, Visceral, 8, Autosomal |
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Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Abdominal... |
OMIM:617205 |
Ciliary Dyskinesia, Primary, 27 |
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Situs inversus totalis |
OMIM:615504 |
Ciliary Dyskinesia, Primary, 28 |
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Situs inversus totalis |
OMIM:615505 |
Ciliary Dyskinesia, Primary, 10 |
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Situs inversus totalis |
OMIM:612518 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
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Atrioventricular canal defect, Dextrocardia |
OMIM:606217 |
Spermatogenic Failure 77 |
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Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Atrial Septal Defect 2 |
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Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... |
OMIM:607941 |
Ciliary Dyskinesia, Primary, 39 |
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Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Ciliary Dyskinesia, Primary, 20 |
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Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... |
OMIM:615067 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Steatorrhea, ... |
OMIM:269200 |
Congenital Bilateral Absence Of Vas Deferens |
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Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Cleidocranial Dysplasia, Recessive Form |
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Brachycephaly |
OMIM:216330 |
Ciliary Dyskinesia, Primary, 46 |
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Reduced sperm motility |
OMIM:619436 |
Stormorken Syndrome |
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Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Prolactin Deficiency, Isolated |
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Irregular menstruation, Infertility |
OMIM:264110 |
Gracile Bone Dysplasia |
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Asplenia, Hypoplastic spleen, Ankyloglossia |
OMIM:602361 |
Agnathia-Otocephaly Complex |
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Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Microglossia |
OMIM:202650 |
Heterotaxy, Visceral, 12, Autosomal |
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Abdominal situs ambiguus, Ventricular septal defect, Dextrocardia, Left Isomerism, Situs inversus... |
OMIM:619702 |
Marfanoid Habitus With Situs Inversus |
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Situs inversus totalis, Pulmonic stenosis, Mitral valve prolapse |
OMIM:609008 |
Joubert Syndrome |
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Situs inversus totalis, Polymicrogyria, Aganglionic megacolon, Abnormality of neuronal migration |
ORPHA:475 |
Spermatogenic Failure 28 |
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Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Feingold Syndrome 1 |
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Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph... |
OMIM:164280 |
Pagod Syndrome |
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Situs inversus totalis, Abnormality of the spleen, Abnormality of neuronal migration, Hypoplastic... |
ORPHA:991 |
Lissencephaly Syndrome, Norman-Roberts Type |
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4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly, Dysphagia, Atrial... |
ORPHA:89844 |
Ciliary Dyskinesia, Primary, 34 |
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Male infertility, Immotile sperm |
OMIM:617091 |
Autosomal Recessive Spastic Paraplegia Type 46 |
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Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... |
ORPHA:320391 |
Sporadic Fetal Brain Disruption Sequence |
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Prominent occiput, Plagiocephaly, Microcephaly |
ORPHA:1665 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Atrioventricular c... |
OMIM:265380 |
Chromosome 15Q25 Deletion Syndrome |
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Macrocytic anemia, Ventricular septal defect, Dextrocardia, Cryptorchidism, Cleft palate, Coronar... |
OMIM:614294 |
Crouzon Syndrome With Acanthosis Nigricans |
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Melanocytic nevus, Brachycephaly, Craniosynostosis, Midface retrusion |
OMIM:612247 |
Cardiac-Urogenital Syndrome |
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Accessory spleen, Cor triatrium sinister, Unilateral cryptorchidism, Ventricular septal defect, C... |
OMIM:618280 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
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Dextrocardia, Periventricular heterotopia, Cryptorchidism, High palate, Atrioventricular canal de... |
OMIM:618929 |
Aminopterin/Methotrexate Embryofetopathy |
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Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect, Cleft palate |
ORPHA:1908 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Isomerism, Transposition of the grea... |
OMIM:314390 |
Nephronophthisis 2 |
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Situs inversus totalis |
OMIM:602088 |
Ellis Van Creveld Syndrome |
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Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Marden-Walker Syndrome |
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Dextrocardia, Cryptorchidism, High, narrow palate, Pyloric stenosis, Cleft palate, Zollinger-Elli... |
OMIM:248700 |
Distal Duplication 5Q |
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Cryptorchidism, Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96097 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
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Situs inversus totalis, Anal stenosis, Ectopic anus, Dextrocardia |
OMIM:613686 |
Meckel Syndrome, Type 1 |
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Accessory spleen, Intestinal malrotation, Malformation of the hepatic ductal plate, Asplenia, Spl... |
OMIM:249000 |
Johanson-Blizzard Syndrome |
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Dextrocardia, Malabsorption, Abnormality of the pancreas, Anteriorly placed anus, Abnormal cardia... |
ORPHA:2315 |
Renpenning Syndrome |
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High, narrow palate, Cleft palate, Heterotaxy, Decreased testicular size, Anal atresia |
ORPHA:3242 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
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Situs inversus totalis, Microglossia |
ORPHA:990 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
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Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Tracheoesophage... |
OMIM:277380 |
Pseudotrisomy 13 Syndrome |
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Ventricular septal defect, Dextrocardia, Cryptorchidism, Complete atrioventricular canal defect, ... |
OMIM:264480 |
8P Inverted Duplication/Deletion Syndrome |
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Dextrocardia, Cryptorchidism, High, narrow palate, Abnormal heart morphology, Aplasia/Hypoplasia ... |
ORPHA:96092 |
Autoimmune Polyendocrinopathy Type 4 |
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Macrocytic anemia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune thrombocytopeni... |
ORPHA:227990 |
Ciliary Dyskinesia, Primary, 11 |
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Reduced sperm motility |
OMIM:612649 |
Poland Syndrome |
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Dextrocardia |
OMIM:173800 |
Congenitally Corrected Transposition Of The Great Arteries |
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Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Pseudoaminopterin Syndrome |
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Asplenia, Cryptorchidism, High palate, Patent foramen ovale |
ORPHA:221120 |
Autoimmune Polyendocrinopathy Type 3 |
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Macrocytic anemia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune thrombocytopeni... |
ORPHA:227982 |
Spermatogenic Failure 14 |
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Male infertility, Azoospermia |
OMIM:615842 |
Ciliary Dyskinesia, Primary, 45 |
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Male infertility |
OMIM:618801 |
Familial Peripheral Male-Limited Precocious Puberty |
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Male infertility, Macroorchidism, Oligozoospermia |
ORPHA:3000 |
Spermatogenic Failure, X-Linked, 4 |
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Male infertility, Azoospermia |
OMIM:301077 |
Double Outlet Right Ventricle |
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Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... |
ORPHA:3426 |
Proximal 16P11.2 Microdeletion Syndrome |
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Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal heart morphology, Gastroesophageal reflux,... |
ORPHA:261197 |
Joubert Syndrome With Ocular Defect |
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Polymicrogyria, Aganglionic megacolon, Dextrocardia, Cleft palate |
ORPHA:220493 |
Partial Atrioventricular Septal Defect |
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Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventricular canal defect, Common ... |
ORPHA:1330 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Marden-Walker Syndrome |
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Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pyloric stenosis, Submucous clef... |
ORPHA:2461 |
Ciliary Dyskinesia With Defective Radial Spokes |
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Immotile sperm |
OMIM:242670 |
Craniosynostosis 6 |
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Turricephaly, Craniosynostosis, Microcephaly, Parietal foramina, Brachycephaly, Plagiocephaly, Ri... |
OMIM:616602 |
Meacham Syndrome |
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Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo... |
OMIM:608978 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa... |
OMIM:619534 |
Johanson-Blizzard Syndrome |
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Colonic diverticula, Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate amin... |
OMIM:243800 |
Total Anomalous Pulmonary Venous Return 1 |
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Total anomalous pulmonary venous return, Dextrocardia |
OMIM:106700 |
Tetrasomy 9P |
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Absent gallbladder, Pericarditis, Dextrocardia, Cryptorchidism, Jaundice, Biliary atresia, Cleft ... |
ORPHA:3310 |
Primary Pulmonary Hypoplasia |
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Secundum atrial septal defect, Dextrocardia, Cleft palate |
ORPHA:2257 |
Isolated Cleft Lip |
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Situs inversus totalis, Velopharyngeal insufficiency |
ORPHA:199302 |
Lead Poisoning |
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Decreased female libido, Abnormality of the menstrual cycle, Imbalanced hemoglobin synthesis, Oli... |
ORPHA:330015 |
Mirage Syndrome |
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Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Esophageal stricture, Leukopeni... |
OMIM:617053 |
Ring Chromosome 7 Syndrome |
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Situs inversus totalis, Cleft palate, Hydrocele testis, Hypogonadism, Median cleft palate, Bifid ... |
ORPHA:1449 |
Autosomal Dominant Polycystic Kidney Disease |
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Polycystic liver disease, Pancreatic cysts, Mitral valve prolapse, Hepatic cysts, Reduced sperm m... |
ORPHA:730 |
Renpenning Syndrome 1 |
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Ventricular septal defect, Situs inversus totalis, Cleft palate, High palate, Atrial septal defec... |
OMIM:309500 |
Czeizel-Losonci Syndrome |
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Tracheoesophageal fistula, High palate, Dextrocardia |
ORPHA:2437 |
Neurooculorenal Syndrome |
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Dextrocardia, Intestinal malrotation, Cryptorchidism, Mitral valve prolapse, Anteriorly placed an... |
OMIM:620305 |
Carpenter Syndrome 2 |
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Dextrocardia, Bilateral cryptorchidism, Cryptorchidism, Situs inversus totalis, High, narrow pala... |
OMIM:614976 |
Ring Chromosome Y Syndrome |
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Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
Mowat-Wilson Syndrome |
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Bicuspid aortic valve, Asplenia, Cleft hard palate, Gastrointestinal dysmotility, Bifid uvula, Cr... |
ORPHA:2152 |
Scimitar Syndrome |
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Ventricular septal defect, Dextrocardia, Mitral atresia, Partial anomalous pulmonary venous retur... |
ORPHA:185 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Bicuspid aortic valve, Abnormal pulmonary valve morphology, Aganglionic megacolon, Periventricula... |
ORPHA:261537 |
Tetraamelia Syndrome 1 |
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Asplenia, Anal atresia, Cleft palate |
OMIM:273395 |
Cardiac Diverticulum |
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Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ... |
ORPHA:1686 |
Microphthalmia, Syndromic 9 |
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Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Multilobu... |
OMIM:601186 |
Knobloch Syndrome |
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Lymphangioma, Pyloric stenosis, Dextrocardia |
ORPHA:1571 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Periventri... |
ORPHA:261552 |
Muenke Syndrome |
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Hypermelanotic macule, Hypopigmented skin patches, Brachycephaly, Plagiocephaly, Coronal craniosy... |
ORPHA:53271 |
Poland Syndrome |
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Dextrocardia, Cryptorchidism, Acute leukemia, Abnormality of the liver, Atrial septal defect |
ORPHA:2911 |
Catel-Manzke Syndrome |
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Overriding aorta, Ventricular septal defect, Dextrocardia, Cryptorchidism, Cleft palate, Glossopt... |
OMIM:616145 |
Craniosynostosis 2 |
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Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Brachycephaly, Trigonocep... |
OMIM:604757 |
Congenital Total Pulmonary Venous Return Anomaly |
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Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Hemimegalencephaly |
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Cranial asymmetry |
ORPHA:99802 |
Pearson Syndrome |
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Abnormality of the liver, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocytosis, Cardiomy... |
ORPHA:699 |
Classic Galactosemia |
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Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
Diets-Jongmans Syndrome |
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Cryptorchidism, Heterotaxy, Ventricular septal defect, Duodenal atresia |
OMIM:618846 |
Microphthalmia, Syndromic 2 |
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Ventricular septal defect, Dextrocardia, Cryptorchidism, Submucous cleft hard palate, Double outl... |
OMIM:300166 |
Carney Complex |
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Neoplasm of the pancreas, Sertoli cell neoplasm, Neoplasm of the stomach, Testicular neoplasm, He... |
ORPHA:1359 |
Achard Syndrome |
|
Broad skull, Brachycephaly |
OMIM:100700 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
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Male infertility |
ORPHA:2239 |
Renal Cysts And Diabetes Syndrome |
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Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Biliary tract abnormality, Panc... |
OMIM:137920 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
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Cranial asymmetry, Pulmonic stenosis |
ORPHA:137634 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
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High palate, Bicuspid aortic valve, Dextrocardia |
ORPHA:536545 |
Limb Body Wall Complex |
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Ventricular septal defect, Cleft palate, Abnormal heart morphology, Abnormality of the liver, Abn... |
ORPHA:2369 |
Restrictive Dermopathy |
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Dextrocardia, Submucous cleft hard palate, Transposition of the great arteries, Atrial septal def... |
ORPHA:1662 |
47,Xyy Syndrome |
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Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism |
ORPHA:8 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Scaphocephaly, Cranial asymmetry, Microcephaly |
OMIM:614886 |
Schimmelpenning-Feuerstein-Mims Syndrome |
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Hypopigmentation of the skin, Cranial asymmetry |
OMIM:163200 |
Thoracoabdominal Syndrome |
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Ectopia cordis, Transposition of the great arteries, Cleft palate |
OMIM:313850 |
Complete Androgen Insensitivity Syndrome |
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Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility |
ORPHA:99429 |
Constricting Bands, Congenital |
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Ectopia cordis, Cleft palate |
OMIM:217100 |
Aromatase Deficiency |
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Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Floating-Harbor Syndrome |
|
Atrial septal defect, Cryptorchidism, Mesocardia, Celiac disease |
OMIM:136140 |
Floating-Harbor Syndrome |
|
Celiac disease, Cryptorchidism, Tetralogy of Fallot, Gastroesophageal reflux, Atrial septal defec... |
ORPHA:2044 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction |
ORPHA:90797 |
Arthrogryposis, Distal, Type 4 |
|
Cranial asymmetry |
OMIM:609128 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... |
ORPHA:90793 |
46,Xy Partial Gonadal Dysgenesis |
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Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... |
ORPHA:251510 |
Holoprosencephaly 7 |
|
Frontal bossing, Flat occiput, Microcephaly, Cranial asymmetry, Parietal bossing, Midface retrusion |
OMIM:610828 |
Wiedemann-Rautenstrauch Syndrome |
|
Frontal bossing, Cranial asymmetry, Thickened calvaria, Pulmonic stenosis |
ORPHA:3455 |