Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Female infertility, Oocyte arrest at metaphase I, Polycystic ovaries, A... |
ORPHA:488191 |
Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... |
ORPHA:1646 |
Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... |
OMIM:619528 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
Isochromosomy Yp |
|
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia |
ORPHA:98797 |
Hyperprolactinemia |
|
Female infertility, Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea |
OMIM:615555 |
Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Abnormal spermatogenesis, Gonadoblastoma, Ambiguou... |
ORPHA:261529 |
Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Spermatogenic Failure 49 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Isochromosomy Yq |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Decr... |
ORPHA:98798 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Primary amenorrhea |
OMIM:300604 |
Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
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 5 |
|
Female infertility |
OMIM:617996 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... |
ORPHA:529970 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Male infertility, Nephrolithiasis, Obstructive azoospermia |
OMIM:301060 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head |
OMIM:243060 |
Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
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 |
Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
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 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Premature Ovarian Failure 13 |
|
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... |
OMIM:617442 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Elevated circulating f... |
OMIM:612310 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Asherman Syndrome |
|
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... |
ORPHA:137686 |
Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility |
ORPHA:3000 |
Premature Ovarian Failure 20 |
|
Female infertility, Elevated circulating luteinizing hormone level, Elevated circulating follicle... |
OMIM:619938 |
Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... |
OMIM:619949 |
Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Reduced sperm motility, Oligospermia, Male infertility... |
OMIM:618433 |
Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Cryptorchidism, Elevated circulating follicle stimul... |
OMIM:620103 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Male infertility, Elevated circulating luteinizing hormone level, Non-... |
OMIM:618086 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Ovarian Dysgenesis 3 |
|
Aplasia of the ovary, Female infertility, Elevated circulating luteinizing hormone level, Primary... |
OMIM:614324 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:616950 |
Spermatogenic Failure 2 |
|
Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia |
OMIM:108420 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... |
OMIM:618052 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Abnormality of the uterus, Male infertility, Male pseudohermaphroditis... |
ORPHA:754 |
Diethylstilbestrol Syndrome |
|
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... |
ORPHA:1916 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia |
ORPHA:48 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa... |
OMIM:620135 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:277180 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility, Goiter |
OMIM:617577 |
Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... |
OMIM:615842 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy |
OMIM:617713 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Perineal hypospadias, Aplasia of the ovary, Bifid ... |
ORPHA:90797 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Increased circulating gonadotropin level, Primary amenorrhea... |
ORPHA:251510 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Familial Atrial Myxoma |
|
Cardiomegaly, Cardiac myxoma, Bacterial endocarditis, Pulmonic valve myxoma |
ORPHA:615 |
Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... |
OMIM:301077 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
Aromatase Deficiency |
|
Enlarged polycystic ovaries, Ambiguous genitalia, female, Female pseudohermaphroditism, Female in... |
ORPHA:91 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... |
ORPHA:860 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly |
OMIM:600649 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Aplasia of the uterus, Abnormal uterine cervix morphology, Male inferti... |
ORPHA:99429 |
Timothy Syndrome |
|
Patent foramen ovale, Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect |
OMIM:601005 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... |
ORPHA:3092 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level... |
OMIM:110100 |
47,Xyy Syndrome |
|
Macroorchidism, Azoospermia, Oligospermia, Hypospadias, Male infertility, Increased circulating g... |
ORPHA:8 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Cardiac amyloidosis, Hypertrophic cardi... |
ORPHA:85451 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly |
OMIM:619064 |
Congenital Toxoplasmosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:858 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis, Hypercalciuria |
ORPHA:2239 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Increased circulating gonadotropin level, Blind vagina, Prima... |
ORPHA:90793 |
Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:269920 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Cardiomegaly, Ventricular septal defect, Atrial septal defect |
OMIM:618652 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Ventricular septal hypertrophy,... |
OMIM:115197 |
Mulibrey Nanism |
|
Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis |
OMIM:253250 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
Classic Galactosemia |
|
Decreased fertility in females, Primary amenorrhea, Secondary amenorrhea, Premature ovarian insuf... |
ORPHA:79239 |
Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:212140 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:619051 |
Coronary Arterial Fistula |
|
Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ... |
ORPHA:2041 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Mucopolysaccharidosis, Type Iiib |
|
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly |
OMIM:252920 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Neuraminidase Deficiency |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy |
OMIM:256550 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased fertility, Decreased fertility in females, Enlarged polycystic ovaries, Hypoplasia of t... |
ORPHA:90796 |
Aorta Coarctation |
|
Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l... |
ORPHA:1457 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig... |
ORPHA:439 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Hepatomegaly, Cardiomegaly, Aortic valve calcification, Mitral val... |
OMIM:231005 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Cantu Syndrome |
|
Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve |
OMIM:239850 |
Hemochromatosis, Type 1 |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy |
OMIM:235200 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circulating gonadotro... |
ORPHA:1772 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Tubulointerstitial nephritis, Primary testicular failure, Hypogonadism, Nephrotic syndrome, Abnor... |
ORPHA:85450 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Secondary amenorrhea, Premature ovarian insufficiency, Lacrimal gland aplasi... |
ORPHA:572333 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve pro... |
ORPHA:324410 |
Primary Ciliary Dyskinesia |
|
Female infertility, Male infertility, Abnormal sperm motility |
ORPHA:244 |
Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Hepatomegaly |
OMIM:255120 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomegaly, Hepatomegaly |
ORPHA:42 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Hepatomegaly, Right atrial isomerism,... |
OMIM:306955 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
ORPHA:99931 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Hepatomegaly |
OMIM:201475 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect |
OMIM:616897 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Complete atrioventricular can... |
ORPHA:1329 |
Craniofaciofrontodigital Syndrome |
|
Ventricular septal defect, Pericardial effusion, Bicuspid aortic valve, Atrial septal defect, Aor... |
ORPHA:363705 |
Danon Disease |
|
Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic cardiomyopathy, Myocardial necrosis, Ca... |
OMIM:300257 |
Cirrhotic Cardiomyopathy |
|
Left ventricular hypertrophy, Left atrial enlargement, Hepatomegaly, Cardiomegaly, Right atrial e... |
ORPHA:57777 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
Fanconi Anemia, Complementation Group A |
|
Ectopic kidney, Male infertility, Horseshoe kidney, Hypergonadotropic hypogonadism, Cryptorchidism |
OMIM:227650 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly |
ORPHA:255249 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy |
ORPHA:465508 |
Fucosidosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:349 |
Mogs-Cdg |
|
Left ventricular hypertrophy, Atrial septal defect, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:79330 |
Sandhoff Disease |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:268800 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pericardial effusion, Enlarged kidney, Hypertrophic cardiomyopathy, Biventricular hypertrophy, In... |
OMIM:261740 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
Sickle Cell Disease |
|
Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:603903 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly |
ORPHA:308552 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly |
OMIM:608836 |
Gaucher Disease, Perinatal Lethal |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:608013 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Patent foramen ovale, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular hypertrophy,... |
OMIM:245600 |
Congenital Disorder Of Glycosylation, Type It |
|
Cardiomegaly, Ventricular septal defect, Hepatomegaly, Dilated cardiomyopathy |
OMIM:614921 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse, Atrial septal defect, Hepato... |
OMIM:602782 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy |
ORPHA:268 |
Fucosidosis |
|
Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:230000 |
Truncus Arteriosus |
|
Truncus arteriosus, Ventricular septal defect, Transposition of the great arteries, Pulmonic sten... |
ORPHA:3384 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomegaly, Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy |
ORPHA:228308 |
Absence Of The Pulmonary Artery |
|
Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Atrial septal defec... |
ORPHA:980 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High urinary gonadotropin level, Gonadoblastoma, Secondary amenorrhea, Premature ovarian insuffic... |
ORPHA:99413 |
Turner Syndrome |
|
High urinary gonadotropin level, Gonadoblastoma, Secondary amenorrhea, Premature ovarian insuffic... |
ORPHA:881 |
Mosaic Monosomy X |
|
High urinary gonadotropin level, Gonadoblastoma, Secondary amenorrhea, Premature ovarian insuffic... |
ORPHA:99228 |
Monosomy X |
|
High urinary gonadotropin level, Gonadoblastoma, Secondary amenorrhea, Premature ovarian insuffic... |
ORPHA:99226 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Single ventricle, Atrial septal defect, Abnormal heart morphology, Par... |
ORPHA:95430 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrial septal dilatation, Hepatomegaly, Cardiomegaly, Right atrial enlargement, Right ventricular... |
ORPHA:1677 |
Developmental And Epileptic Encephalopathy 95 |
|
Cardiomegaly, Hepatomegaly |
OMIM:618143 |
Glycogen Storage Disease Ii |
|
Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:232300 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
Mucopolysaccharidosis Type 3 |
|
Abnormal mitral valve morphology, Abnormal aortic valve morphology, Hepatomegaly, Cardiomegaly, S... |
ORPHA:581 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous... |
ORPHA:99125 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:618278 |
Mucolipidosis Ii Alpha/Beta |
|
Enlarged kidney, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252500 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Left ventricular noncompac... |
OMIM:300967 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility |
OMIM:244400 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Stage 5 chronic kidney disease, Glycosuria, Hyperphosphaturia, Hematuria, Medullar... |
OMIM:219800 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Cardiomegaly, Ventricular septal defect, Hepatomegaly |
ORPHA:96191 |
Ogden Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Perimembranous ventricular septal defect, Bicusp... |
OMIM:300855 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
Histiocytoid Cardiomyopathy |
|
Cardiomegaly, Ventricular septal defect, Hepatomegaly |
ORPHA:137675 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly |
ORPHA:365 |
Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Enlarged kidney, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:130650 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Abnormal cardiac septum morphology |
ORPHA:97297 |
Abetalipoproteinemia |
|
Cardiomegaly, Hepatomegaly |
ORPHA:14 |
Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi... |
ORPHA:75565 |
Aicardi-Goutières Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Hepatosplenomegaly |
ORPHA:51 |
Liver Disease, Severe Congenital |
|
Subvalvular aortic stenosis, Patent foramen ovale, Dilatation of the ventricular cavity, Ventricu... |
OMIM:619991 |
Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hypertrophic cardiomyopathy, Visceromegaly, Hepatomegaly, Cardiomegaly, Splenome... |
ORPHA:116 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Atrial septal defect, Cardiomegaly, Tetralogy of Fallot, Cardiomyopathy |
ORPHA:3472 |
Williams Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Bicuspid aortic valve, Mitral valv... |
ORPHA:904 |
Noonan Syndrome 1 |
|
Hypospadias, Male infertility, Hypogonadism, Cryptorchidism |
OMIM:163950 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:256040 |
Cystic Fibrosis |
|
Male infertility, Hypercalciuria |
OMIM:219700 |
Singleton-Merten Syndrome 1 |
|
Subvalvular aortic stenosis, Aortic valve stenosis, Cardiomegaly, Aortic valve calcification, Mit... |
OMIM:182250 |
Generalized Arterial Calcification Of Infancy |
|
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |