| Spermatogenic Failure 50 |
|
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619145 |
| Spermatogenic Failure 57 |
|
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... |
OMIM:619528 |
| Spermatogenic Failure 25 |
|
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... |
OMIM:617960 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... |
ORPHA:98797 |
| Partial Chromosome Y Deletion |
|
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... |
ORPHA:1646 |
| Spermatogenic Failure 32 |
|
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia |
OMIM:619831 |
| Spermatogenic Failure 30 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism |
OMIM:618110 |
| Spermatogenic Failure 62 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 88 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:620547 |
| Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
| 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 48 |
|
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
| Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... |
ORPHA:98798 |
| Spermatogenic Failure 22 |
|
Male infertility, Cryptozoospermia, Non-obstructive azoospermia |
OMIM:617706 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Spermatogenic Failure 70 |
|
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia |
OMIM:619828 |
| 46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism |
ORPHA:393 |
| Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia |
OMIM:309120 |
| Spermatogenic Failure 35 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... |
OMIM:618341 |
| Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea |
ORPHA:397685 |
| Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
| Spermatogenic Failure 63 |
|
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility |
OMIM:619689 |
| Spermatogenic Failure 20 |
|
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... |
ORPHA:399805 |
| Spermatogenic Failure 72 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... |
OMIM:618153 |
| Spermatogenic Failure 37 |
|
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... |
OMIM:617576 |
| Spermatogenic Failure 33 |
|
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... |
OMIM:618152 |
| Spermatogenic Failure 46 |
|
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... |
OMIM:617965 |
| Spermatogenic Failure 8 |
|
Oligozoospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
| Spermatogenic Failure 43 |
|
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Absent sperm... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:619094 |
| Spermatogenic Failure, X-Linked, 5 |
|
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Reduced pr... |
OMIM:301099 |
| Spermatogenic Failure, X-Linked, 3 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... |
OMIM:301059 |
| Spermatogenic Failure 78 |
|
Tapered sperm head, Male infertility, Microcephalic sperm head |
OMIM:620170 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
| Spermatogenic Failure 40 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, A... |
OMIM:618664 |
| Spermatogenic Failure 84 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:620409 |
| Spermatogenic Failure 65 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... |
OMIM:619712 |
| Spermatogenic Failure 80 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced progressi... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... |
OMIM:620084 |
| Spermatogenic Failure 1 |
|
Male infertility, Oligozoospermia, Cryptozoospermia |
OMIM:258150 |
| Spermatogenic Failure 56 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... |
OMIM:619515 |
| Spermatogenic Failure 47 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella |
OMIM:619102 |
| Spermatogenic Failure 54 |
|
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... |
OMIM:619379 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella |
OMIM:620196 |
| Spermatogenic Failure 58 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... |
OMIM:619585 |
| Spermatogenic Failure 39 |
|
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Coiled sperm flagell... |
OMIM:618643 |
| Spermatogenic Failure 11 |
|
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology |
OMIM:614822 |
| Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... |
OMIM:620354 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility |
ORPHA:488191 |
| Spermatogenic Failure 41 |
|
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm |
OMIM:618670 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male infertil... |
ORPHA:261529 |
| Spermatogenic Failure 7 |
|
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
| Spermatogenic Failure 42 |
|
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... |
OMIM:618745 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... |
OMIM:611102 |
| Oocyte/Zygote/Embryo Maturation Arrest 16 |
|
Infertility |
OMIM:617234 |
| Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
| Spermatogenic Failure 75 |
|
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... |
OMIM:619949 |
| Spermatogenic Failure 5 |
|
Macrozoospermia, Male infertility, Multiflagellar spermatozoa |
OMIM:243060 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Testicular atrophy, Azoospermia |
ORPHA:276183 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| 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 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility, Lack of oocyte pronucleus formation |
OMIM:617996 |
| Hepatic Adenomas, Familial |
|
Polycystic ovaries |
OMIM:142330 |
| Spermatogenic Failure 77 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... |
OMIM:620103 |
| Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Oligozoospermia, Male infertility, Reduced progressive sperm moti... |
OMIM:619696 |
| Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... |
OMIM:108420 |
| Spermatogenic Failure 87 |
|
Male infertility, Ruffled acrosome |
OMIM:620500 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
| Spermatogenic Failure, X-Linked, 6 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... |
OMIM:301101 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... |
ORPHA:399808 |
| Spermatogenic Failure 86 |
|
Abnormal sperm head morphology, Male infertility, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... |
OMIM:620499 |
| Oocyte/Zygote/Embryo Maturation Arrest 21 |
|
Female infertility |
OMIM:620610 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle |
OMIM:619011 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... |
OMIM:616950 |
| Xp22.3 Microdeletion Syndrome |
|
Secondary amenorrhea, Polycystic ovaries, Decreased fertility, Hypogonadotropic hypogonadism |
ORPHA:1643 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis |
ORPHA:242 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism |
OMIM:261550 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... |
OMIM:228300 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... |
OMIM:612885 |
| Spermatogenic Failure 51 |
|
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... |
OMIM:619177 |
| Spermatogenic Failure 44 |
|
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... |
OMIM:619044 |
| Spermatogenic Failure 81 |
|
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility |
OMIM:620277 |
| Premature Ovarian Failure 2B |
|
Delayed puberty, Premature ovarian insufficiency, Osteoporosis, Female infertility, Primary ameno... |
OMIM:300604 |
| Spermatogenic Failure 28 |
|
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... |
OMIM:618086 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism |
ORPHA:2229 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Premature Ovarian Failure 5 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral follicle count, Secondar... |
OMIM:611548 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... |
OMIM:229070 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
| Hyperprolactinemia |
|
Increased circulating prolactin concentration, Oligomenorrhea, Menorrhagia, Female infertility |
OMIM:615555 |
| Young Syndrome |
|
Azoospermia |
OMIM:279000 |
| Ovarian Dysgenesis 2 |
|
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... |
OMIM:300510 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... |
ORPHA:52901 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level |
OMIM:619009 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... |
ORPHA:2138 |
| Endometriosis, Susceptibility To, 1 |
|
Dysmenorrhea, Decreased fertility, Endometriosis |
OMIM:131200 |
| Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... |
OMIM:612310 |
| Morbid Obesity And Spermatogenic Failure |
|
Infertility, Oligozoospermia, Type II diabetes mellitus, Azoospermia |
OMIM:615703 |
| Spermatogenic Failure 14 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... |
OMIM:615842 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating hormone concentration, Infertility, Oligomenorrhea, Polycy... |
ORPHA:280356 |
| Aromatase Deficiency |
|
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism |
OMIM:613546 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia |
ORPHA:48 |
| Spermatogenic Failure 38 |
|
Abnormal sperm head morphology, Male infertility, Abnormal axonemal organization of respiratory m... |
OMIM:618433 |
| 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 6 |
|
Female infertility |
OMIM:618353 |
| Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
| Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
| Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Perrault Syndrome 6 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... |
OMIM:617565 |
| Polycystic Ovary Syndrome 1 |
|
Oligomenorrhea, Amenorrhea, Enlarged polycystic ovaries |
OMIM:184700 |
| Functioning Gonadotropic Adenoma |
|
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... |
ORPHA:91348 |
| Ovarian Dysgenesis 10 |
|
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... |
OMIM:619834 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... |
OMIM:301106 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
| 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 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... |
OMIM:614837 |
| 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 85 |
|
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... |
OMIM:620490 |
| Ciliary Dyskinesia, Primary, 50 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... |
OMIM:620356 |
| Hypogonadism, Male |
|
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias |
OMIM:241100 |
| Androgen Insensitivity, Partial |
|
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... |
OMIM:312300 |
| Premature Ovarian Failure 13 |
|
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... |
OMIM:617442 |
| Hemochromatosis, Type 2A |
|
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia |
OMIM:602390 |
| Spermatogenic Failure 13 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... |
OMIM:615841 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism |
ORPHA:3000 |
| Ovarian Dysgenesis 9 |
|
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... |
OMIM:619665 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... |
OMIM:619203 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... |
OMIM:301077 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Azoospermia |
ORPHA:2183 |
| Rudiger Syndrome |
|
Ovarian cyst, Bicornuate uterus, Micropenis |
OMIM:268650 |
| Spermatogenic Failure 6 |
|
Decreased acrosin in sperm head, Globozoospermia, Male infertility |
OMIM:102530 |
| Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia |
ORPHA:2578 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... |
ORPHA:168563 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... |
OMIM:614841 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... |
OMIM:615724 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size... |
ORPHA:3085 |
| Premature Ovarian Failure 22 |
|
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... |
OMIM:620548 |
| Premature Ovarian Failure 8 |
|
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... |
OMIM:615723 |
| Premature Ovarian Failure 21 |
|
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... |
OMIM:620311 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... |
OMIM:614897 |
| Spermatogenic Failure 24 |
|
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... |
OMIM:617959 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Amenorrhea, Female infertility |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Amenorrhea, Female infertility |
OMIM:620383 |
| Ovarian Dysgenesis 3 |
|
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... |
OMIM:614324 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... |
ORPHA:90793 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... |
ORPHA:90797 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Infertility |
OMIM:300719 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... |
OMIM:618841 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Infertility, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonad... |
OMIM:146110 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries |
ORPHA:2795 |
| Hypogonadism-Cataract Syndrome |
|
Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona... |
OMIM:240950 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Delayed puberty, Increased female libido, Absence of secondary sex characteristics, Hypoplasia of... |
ORPHA:432 |
| Ciliary Dyskinesia, Primary, 51 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:620438 |
| Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy |
ORPHA:481 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... |
ORPHA:251510 |
| Asherman Syndrome |
|
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... |
ORPHA:137686 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility |
OMIM:136580 |
| Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... |
OMIM:614129 |
| Adrenal Hypoplasia, Congenital |
|
Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Absence of... |
OMIM:300200 |
| 48,Xyyy Syndrome |
|
Primary gonadal insufficiency, Male hypogonadism, Azoospermia |
ORPHA:99329 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... |
ORPHA:90796 |
| Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... |
OMIM:308700 |
| Ciliary Dyskinesia, Primary, 40 |
|
Absent outer dynein arms, Infertility, Azoospermia |
OMIM:618300 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Polycystic ovaries, Diabetes mellitus |
OMIM:608709 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... |
ORPHA:983 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Secondary amenorrhea, Polycystic ovaries, Insulin-resistant diabetes mellitus, Hypergonadotropic ... |
OMIM:268020 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Polycystic ovaries, Hyperinsulinemia, Diabetes mellitus |
ORPHA:79084 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for external gen... |
ORPHA:261519 |
| Estrogen Resistance |
|
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre... |
OMIM:615363 |
| Ring Chromosome 21 Syndrome |
|
Amenorrhea, Infertility, Diabetes insipidus, Azoospermia |
ORPHA:1445 |
| 46,Xx Sex Reversal 2 |
|
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... |
OMIM:278850 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Azoospermia, Hypergonadot... |
ORPHA:280679 |
| Ataxia-Telangiectasia |
|
Delayed puberty, Abnormality of chromosome stability, Abnormal testis morphology, Type II diabete... |
ORPHA:100 |
| 46,Xx Gonadal Dysgenesis |
|
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas... |
ORPHA:243 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycystic ovaries, Insulin-... |
ORPHA:79085 |
| 47,Xyy Syndrome |
|
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... |
ORPHA:8 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Multicystic kidney dy... |
OMIM:277000 |
| 49,Xyyyy Syndrome |
|
External genital hypoplasia, Increased circulating gonadotropin level, Azoospermia, Abnormality o... |
ORPHA:99330 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... |
OMIM:615300 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia |
OMIM:601076 |
| Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati... |
OMIM:619938 |
| Paternal Uniparental Disomy Of Chromosome X |
|
Decreased testicular size, Infertility, Micropenis |
ORPHA:261524 |
| Hemochromatosis, Type 1 |
|
Azoospermia, Impotence, Diabetes mellitus, Amenorrhea, Hypogonadotropic hypogonadism, Testicular ... |
OMIM:235200 |
| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Infertility, Hypothyroidism, Male p... |
OMIM:264300 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Streak ovary,... |
OMIM:194072 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Polycystic ovaries, Enlarged polycystic ovaries, Elevated circulating growth hormone concentration |
ORPHA:90301 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P... |
OMIM:233420 |
| Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... |
ORPHA:206484 |
| Congenital Factor Vii Deficiency |
|
Menorrhagia, Ovarian cyst |
ORPHA:327 |
| 46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Infertility, Male pseudohermaphroditism, Hypothyroidism, Ambiguous genitalia, Cryptorchidism, Hyp... |
ORPHA:752 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Maternal diabetes, Oligomenorrhea, Type II diabetes mellitus, Primary amenorrhe... |
OMIM:604367 |
| Obesity Due To Congenital Leptin Deficiency |
|
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... |
ORPHA:66628 |
| Frasier Syndrome |
|
Ambiguous genitalia, male, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Primary am... |
ORPHA:347 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... |
ORPHA:90791 |
| Bangstad Syndrome |
|
Hyperinsulinemia, Abnormal testis morphology, Hypothyroidism, Type I diabetes mellitus, Primary g... |
ORPHA:1227 |
| 46,Xx Sex Reversal 1 |
|
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... |
OMIM:400045 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Clitoral hypertrophy, Premature pubarche, Is... |
ORPHA:90795 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycystic ovaries, Insulin-... |
ORPHA:435651 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Azoospermia |
OMIM:615234 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... |
ORPHA:179494 |
| Osteomesopyknosis |
|
Infertility |
OMIM:166450 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Anterior hypopituit... |
ORPHA:2235 |
| Distal Deletion 10P |
|
Polycystic ovaries, Cryptorchidism, Hypoplasia of penis |
ORPHA:1580 |
| 48,Xxyy Syndrome |
|
Azoospermia, Hypoplasia of penis, Infertility, Hypergonadotropic hypogonadism, Decreased testicul... |
ORPHA:10 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Satoyoshi Syndrome |
|
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of... |
ORPHA:3130 |
| Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Oligomenorrhea, Infertility |
OMIM:604931 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Abnormal labia majora morphology, Decreased serum leptin, Oligomenorrhea, Decreased adiponectin l... |
ORPHA:435660 |
| 46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Ambiguous genitalia, male, Hypoplasia of penis, Abnormality of the endocrine system, Bifid scrotu... |
ORPHA:753 |
| Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... |
ORPHA:2232 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Delayed puberty, Absence of secondary sex characteristics, Reduced bone mineral density, Osteopor... |
ORPHA:2410 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital s... |
ORPHA:1772 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:620197 |
| Congenital Generalized Lipodystrophy |
|
Clitoral hypertrophy, Hyperinsulinemia, Precocious puberty in females, Oligomenorrhea, Amenorrhea... |
ORPHA:528 |
| Aromatase Deficiency |
|
Osteopenia, Male infertility, Delayed epiphyseal ossification, Macroorchidism, postpubertal, Enla... |
ORPHA:91 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... |
ORPHA:1916 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Decreased cirrculating antimullerian hormo... |
OMIM:300845 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Maternal diabetes, Secondary amenorrhea, Oligomenorrhea, Dysmenorrhea, Primary amenorrhea, Polycy... |
ORPHA:79083 |
| Familial Adenomatous Polyposis 4 |
|
Uterine leiomyoma, Ovarian cyst, Thyroid adenoma, Renal cyst |
OMIM:617100 |
| Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del... |
ORPHA:99429 |
| Xp22.13P22.2 Duplication Syndrome |
|
Polycystic ovaries, Macroorchidism |
ORPHA:284180 |
| Luscan-Lumish Syndrome |
|
Polycystic ovaries, Irregular menstruation |
OMIM:616831 |
| Dietary Iron Overload Disease |
|
Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma... |
ORPHA:139507 |
| Ovarian Fibrothecoma |
|
Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... |
ORPHA:314478 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadism, Adrena... |
ORPHA:300298 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm head morphology, Infertility, Decreased testicular size, Reduced sperm motility, A... |
ORPHA:320391 |
| Mccune-Albright Syndrome |
|
Decreased fertility, Increased serum testosterone level, Abnormal testis morphology, Abnormal end... |
ORPHA:562 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Secondary amenorrhea, Polycystic ovaries, Dysmenorrhea, Diabetes mellitus |
ORPHA:2348 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical disease, Ovarian ... |
OMIM:610475 |
| Donohue Syndrome |
|
Clitoral hypertrophy, Hyperinsulinemia, Long penis, Precocious puberty, Ovarian cyst, Pancreatic ... |
OMIM:246200 |
| 48,Xxxy Syndrome |
|
Azoospermia, Hypoplasia of penis, Infertility, Decreased testicular size, Type II diabetes mellit... |
ORPHA:96263 |
| Congenital Fibrinogen Deficiency |
|
Decreased testicular size, Hemorrhagic ovarian cyst, Micropenis |
ORPHA:335 |
| Ovarian Hyperstimulation Syndrome |
|
Increased serum testosterone level, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Ovaria... |
ORPHA:64739 |
| Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Abnormal circulati... |
ORPHA:785 |
| Prolactin Deficiency, Isolated |
|
Infertility, Reduced circulating prolactin concentration, Irregular menstruation |
OMIM:264110 |
| Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:308750 |
| Post-Traumatic Pituitary Deficiency |
|
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... |
ORPHA:95619 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,... |
OMIM:620135 |
| Familial Glucocorticoid Deficiency |
|
Azoospermia, Decreased circulating dehydroepiandrosterone concentration, Cryptorchidism, Precocio... |
ORPHA:361 |
| Cowden Syndrome 6 |
|
Thyroiditis, Hypothyroidism, Varicocele, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Goiter, ... |
OMIM:615109 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Gonadal dysgenesis, Polycystic ovaries |
ORPHA:1770 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Erectile dysfunction, Decreased libido, Cardiomyopathy, Joint stiffness, Splenomegaly, Cardiomega... |
ORPHA:465508 |
| Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Dextrocardia, Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
| 49,Xxxxy Syndrome |
|
Azoospermia, Hypoplasia of penis, Infertility, Decreased testicular size, Type II diabetes mellit... |
ORPHA:96264 |
| Cowden Syndrome 5 |
|
Thyroiditis, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Goiter, Hydrocele te... |
OMIM:615108 |
| Tetragametic Chimerism |
|
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... |
ORPHA:199310 |
| Ring Chromosome 22 Syndrome |
|
Azoospermia |
ORPHA:1446 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulati... |
ORPHA:572333 |
| Preeclampsia |
|
Polycystic ovaries, Type I diabetes mellitus |
ORPHA:275555 |
| Woodhouse-Sakati Syndrome |
|
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the uterus, Decreased response to... |
ORPHA:3464 |
| N Syndrome |
|
Abnormality of chromosome stability, Cryptorchidism, Hypospadias |
OMIM:310465 |
| Ciliary Dyskinesia, Primary, 45 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:618801 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Small pituitary gland, Osteoporosis, Decreased testicular size, Primary amenorrhea, C... |
OMIM:614880 |
| Cowden Syndrome 1 |
|
Thyroiditis, Hypothyroidism, Varicocele, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Goiter, ... |
OMIM:158350 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
| 8P11.2 Deletion Syndrome |
|
Azoospermia, Hypoplasia of penis, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, C... |
ORPHA:251066 |
| Deafness-Hypogonadism Syndrome |
|
Delayed puberty, Abnormal spermatogenesis, Hypergonadotropic hypogonadism |
ORPHA:90646 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Craniosynostosis, Congenital hypothyroidism |
ORPHA:88643 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
| Bloom Syndrome |
|
Azoospermia, Abnormality of chromosome stability, Chromosome breakage, Type II diabetes mellitus,... |
OMIM:210900 |
| Perlman Syndrome |
|
Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Hypoplasia of penis, Cryptorchidism |
ORPHA:2849 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
| Classic Galactosemia |
|
Delayed puberty, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, J... |
ORPHA:79239 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Deficient excision of UV-induced pyrimidine dimers in DNA, Hypergonadotropic hy... |
OMIM:227650 |
| Ovarian Fibroma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
| Carney Complex |
|
Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria... |
ORPHA:1359 |
| Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Hypogonadism |
OMIM:160900 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... |
ORPHA:95699 |
| Cystic Echinococcosis |
|
Hepatic cysts, Ovarian cyst, Abnormality of the testis size, Renal cyst |
ORPHA:400 |
| Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Primary... |
ORPHA:247768 |
| Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circulating gonadotrop... |
OMIM:110100 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Oligomenorrhea, Polycystic ovaries, Dysmenorrhea, Irregular menstruation |
ORPHA:79240 |
| Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Endometriosis, Aplasia of the uterus, Ectopic ovary, Dyspareunia, Hypoplasia of the vagina, Prima... |
ORPHA:3109 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Anterior hypopituitarism, Oligozoospermia, Panhypopituitarism, Hyperpit... |
ORPHA:91351 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Ovarian cyst, Pancreatic adenocarcinoma |
ORPHA:454840 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Delayed puberty, Oligomenorrhea, Dysmenorrhea, Polycystic ovaries, Irregular menstruation |
ORPHA:264580 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| H Syndrome |
|
Delayed puberty, Azoospermia, Decreased testicular size, Hypogonadism, Amenorrhea, Diabetes melli... |
ORPHA:168569 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Short Syndrome |
|
Ovarian cyst, Insulin-resistant diabetes mellitus |
OMIM:269880 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Polycystic ovaries, Nodular goiter, Type I diabetes mellitus, Premature thelarche |
ORPHA:371428 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Male infertility, Dextrocardia, Asplenia |
OMIM:618948 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Ovarian cyst, Uterine neoplasm, Precocious puberty with Sertoli cell tumor |
OMIM:175200 |
| Fanconi Anemia, Complementation Group E |
|
Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-induced pyrimidine ... |
OMIM:600901 |
| Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
| Proteus-Like Syndrome |
|
Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland |
ORPHA:2969 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Secondary amenorrhea, Decreased serum leptin, Dysmenorrhea, Decreased adiponectin level, Polycyst... |
ORPHA:280365 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Clitoral hypertrophy, Hyperinsulinemia, Decreased fertility in females, Decreased serum leptin, T... |
OMIM:269700 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Clitoral hypertrophy, Hyperinsulinemia, Decreased serum leptin, Polycystic ovaries, Diabetes mell... |
OMIM:608594 |
| Infantile Systemic Hyalinosis |
|
Aplasia/Hypoplasia of the thymus, Polycystic ovaries, Abnormality of the adrenal glands |
ORPHA:2176 |
| Primary Ciliary Dyskinesia |
|
Situs inversus totalis, Male infertility, Transposition of the great arteries, Abnormal atrial ar... |
ORPHA:244 |
| Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:269920 |
| Fibrous Dysplasia Of Bone |
|
Thyroid carcinoma, Precocious puberty in females, Abnormality of the endocrine system, Testicular... |
ORPHA:249 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy, Impotence |
ORPHA:85447 |
| Non-Functioning Pituitary Adenoma |
|
Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency... |
ORPHA:91349 |
| Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms |
OMIM:614874 |
| Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s... |
OMIM:618652 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Abnormal circulating testosterone concentration, Infertility, Oligozoospermia, Increased urinary ... |
ORPHA:786 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Ciliary Dyskinesia, Primary, 9 |
|
Absent outer dynein arms, Male infertility |
OMIM:612444 |
| Ciliary Dyskinesia, Primary, 13 |
|
Absent outer dynein arms, Infertility, Absent inner dynein arms |
OMIM:613193 |
| Fanconi Anemia, Complementation Group C |
|
Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-induced pyrimidine ... |
OMIM:227645 |
| Acquired Generalized Lipodystrophy |
|
Polycystic ovaries, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
ORPHA:79086 |
| Hyperparathyroidism, Transient Neonatal |
|
Ovarian cyst, Hyperparathyroidism |
OMIM:618188 |
| Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Abnormal salivary gland morphology, Increased serum testosterone level, Fasting... |
ORPHA:2298 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Ovarian serous cystadenoma, Hydrocele testis |
ORPHA:276280 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ... |
OMIM:201750 |
| Prolactinoma |
|
Delayed puberty, Erectile dysfunction, Dyspareunia, Impotence, Female hypogonadism, Hypogonadism,... |
ORPHA:2965 |
| Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Multiple renal cysts, Cervix cancer |
ORPHA:2869 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Hypospadias, Decreased skull ossification, Hypertrophic cardiomyopathy, Multiple pren... |
OMIM:616897 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil... |
OMIM:613807 |
| Chromosome 17Q12 Deletion Syndrome |
|
Aplasia of the vagina, Aplasia of the uterus, Renal cyst, Unicornuate uterus, Ovarian cyst, Crypt... |
OMIM:614527 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Labial pseudohypertrophy, Polycystic ovaries, Insuli... |
OMIM:151660 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Dense calvaria, Asymmetric septal hypertrophy, Joint stiffness, Splenomegaly, Cardi... |
OMIM:252920 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis, Thickened cortex of lo... |
OMIM:253250 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Azoospermia, Pancreatic hypoplasia, Hyperg... |
OMIM:602782 |
| De Sanctis-Cacchione Syndrome |
|
Defective DNA repair after ultraviolet radiation damage, Gonadal hypoplasia, Bilateral cryptorchi... |
OMIM:278800 |
| Myotonic Dystrophy 2 |
|
Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulating hormone lev... |
OMIM:602668 |
| Bloom Syndrome |
|
Premature ovarian insufficiency, Male infertility, Azoospermia, Oligozoospermia, Diabetes mellitus |
ORPHA:125 |
| Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus |
OMIM:222300 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom... |
ORPHA:324410 |
| Aarskog-Scott Syndrome |
|
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... |
OMIM:305400 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism |
ORPHA:2239 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... |
OMIM:157640 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Left atrial enlargement, Limited elbow movement, Ventricular hypertrophy, Cardiomyopathy, Hypertr... |
OMIM:300280 |
| Bardet-Biedl Syndrome |
|
Hydrometrocolpos, Aplasia/Hypoplasia of the vagina, Hypoplasia of penis, Hypoplasia of the ovary,... |
ORPHA:110 |
| Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Deficient excision of UV-induced pyrimidine dimers in DNA, Hypergonadotropic hy... |
OMIM:227646 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Male infertility, Dextrocardia, Abdominal situs inversus |
OMIM:619607 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Epiphyseal stippling, Cardiomyopathy, Splenomegaly, Cardiomegaly |
OMIM:256550 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sinus anomaly, Cryptorchidism, ... |
OMIM:618820 |
| Fanconi Anemia |
|
Hypospadias, Abnormal preputium morphology, Azoospermia, Decreased fertility in males, Abnormalit... |
ORPHA:84 |
| Familial Atrial Myxoma |
|
Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Pulmonic valve myxoma, Cardiomegaly |
ORPHA:615 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Abnormal testis morphology, Hypogo... |
ORPHA:85450 |
| Orofaciodigital Syndrome I |
|
Pancreatic cysts, Ovarian cyst, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:311200 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Situs inversus totalis, Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Atrial septal defect, E... |
OMIM:208540 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Delayed puberty, Thyroiditis, Hypothyroidism, Menorrhagia, Polycystic ovaries, Irregular menstrua... |
ORPHA:79259 |
| Leopard Syndrome 1 |
|
Delayed puberty, Hypospadias, Hypoplasia of the ovary, Delayed menarche, Cryptorchidism, Micropen... |
OMIM:151100 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:614096 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... |
OMIM:278760 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal ventriculoarterial connection, Hepatomegaly, Maternal diabetes, Ventricular septal defec... |
ORPHA:860 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:618052 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
| Ciliary Dyskinesia, Primary, 19 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:614935 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Osteoporosis, Pericardial effusion, Congenital hypertrophy of left ventric... |
OMIM:239850 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Delayed puberty, Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasi... |
ORPHA:456312 |
| Xfe Progeroid Syndrome |
|
Defective DNA repair after ultraviolet radiation damage, Premature ovarian insufficiency |
OMIM:610965 |
| Congenital Toxoplasmosis |
|
Cardiomegaly, Jaundice, Hepatomegaly |
ORPHA:858 |
| Glucocorticoid Resistance, Generalized |
|
Increased circulating androstenedione concentration, Increased serum testosterone level, Infertil... |
OMIM:615962 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level in liver, Cardiomyopath... |
OMIM:212140 |
| Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Annular pancreas, Pulmonary valve atresia, Atrioventricular canal defect, ... |
ORPHA:210122 |
| Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormality of ... |
ORPHA:2470 |
| Histiocytoid Cardiomyopathy |
|
Polycystic ovaries, Renal cyst |
ORPHA:137675 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:600649 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Annular pancreas, Delayed pubic bone ossification, ... |
OMIM:618162 |
| Trichothiodystrophy |
|
Gonadal dysgenesis, Cryptorchidism, Defective DNA repair after ultraviolet radiation damage |
ORPHA:33364 |
| Bardet-Biedl Syndrome 1 |
|
Abnormality of the ovary, Nephrogenic diabetes insipidus, Decreased testicular size, Vaginal atre... |
OMIM:209900 |
| Martinez-Frias Syndrome |
|
Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Pancreatic hypoplasia, Extrahepatic... |
OMIM:601346 |
| Non-Acquired Panhypopituitarism |
|
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... |
ORPHA:90695 |
| Renal Cysts And Diabetes Syndrome |
|
Maturity-onset diabetes of the young, Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Bili... |
OMIM:137920 |
| Renal Nutcracker Syndrome |
|
Infertility, Dyspareunia, Vulval varicose vein, Varicocele, Dysmenorrhea |
ORPHA:71273 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hypoplasia of the ovary, Micropenis, Decreased testicular size |
OMIM:619321 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly |
OMIM:619064 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
| Glycogen Storage Disease Ib |
|
Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Osteoporo... |
OMIM:232220 |
| Craniofaciofrontodigital Syndrome |
|
Osteopenia, Cardiomegaly, Abnormal heart valve morphology, Osteoporosis, Aortic valve stenosis, P... |
ORPHA:363705 |
| Bone Marrow Failure Syndrome 3 |
|
Hyperechogenic pancreas, Reduced bone mineral density, Exocrine pancreatic insufficiency, Joint h... |
OMIM:617052 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomegaly, Hepatomegaly, Hepatic steatosis, Distal arthrogryposis |
ORPHA:42 |
| Sickle Cell Disease |
|
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Priapism, Splenomegaly, Cardiomegaly |
OMIM:603903 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... |
ORPHA:3092 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy |
OMIM:614702 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular septal hypertrophy, Hepatomegaly, Muscular ventricular septal defect, Ventricular hyp... |
OMIM:115197 |
| Double Outlet Left Ventricle |
|
Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe... |
ORPHA:3427 |
| Mogs-Cdg |
|
External genital hypoplasia, Hepatomegaly, Inappropriate antidiuretic hormone secretion, Hypothyr... |
ORPHA:79330 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Delayed epiphyseal ossification |
OMIM:613320 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... |
ORPHA:555874 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Hypophosphatemic rickets, Right atrial enlargement |
OMIM:614473 |
| Digeorge Syndrome |
|
Cholelithiasis, Hypoplasia of the thymus, Hypothyroidism, Parathyroid hypoplasia, Ovarian cyst, A... |
OMIM:188400 |
| Timothy Syndrome |
|
Patent foramen ovale, Hypothyroidism, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect |
OMIM:601005 |
| Rabson-Mendenhall Syndrome |
|
Clitoral hypertrophy, Increased serum testosterone level, Long penis, Fasting hyperinsulinemia, P... |
ORPHA:769 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Cholestatic liver disease, Delayed puberty, Reduced bone mineral density, Biliary cirrhosis, Bicu... |
ORPHA:99413 |
| Turner Syndrome |
|
Cholestatic liver disease, Delayed puberty, Reduced bone mineral density, Biliary cirrhosis, Bicu... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Cholestatic liver disease, Delayed puberty, Reduced bone mineral density, Biliary cirrhosis, Bicu... |
ORPHA:99228 |
| Monosomy X |
|
Cholestatic liver disease, Delayed puberty, Reduced bone mineral density, Biliary cirrhosis, Bicu... |
ORPHA:99226 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp... |
OMIM:306955 |
| Alg9-Cdg |
|
Hypoplasia of the ovary, Hypoplastic nipples, Bicornuate uterus |
ORPHA:79328 |
| Duodenal Atresia |
|
Annular pancreas, Abnormality of the pancreas |
ORPHA:1203 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Joint hypermobility, Patent foramen ovale, Elbow flexion contr... |
OMIM:245600 |
| Cowden Syndrome |
|
Neoplasm of the thyroid gland, Adenoma sebaceum, Abnormal penis morphology, Enlarged polycystic o... |
ORPHA:201 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Absent vas deferens, Jaundice, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia o... |
ORPHA:93111 |
| Ciliary Dyskinesia, Primary, 53 |
|
Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten... |
OMIM:620642 |
| Kaposiform Lymphangiomatosis |
|
Enlarged kidney, Fractures of the long bones, Abnormal spleen morphology, Pericardial effusion, H... |
ORPHA:464329 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Delayed puberty, Cholelithiasis, Azoospermia |
ORPHA:2072 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Periportal fibrosis, Hypertrophic cardiomyopathy, Hepatocellular necrosis, Cardiome... |
OMIM:201475 |
| Diphallia |
|
Penoscrotal transposition, Epispadias, Bifid penis, Hypospadias, Ectopic scrotum, Abnormal sperma... |
ORPHA:227 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Delayed puberty, Hepatomegaly, Hypothyroidism, Diabetes mellitus, Achilles tendon contracture, Ex... |
OMIM:616263 |
| Tropical Pancreatitis |
|
Jaundice, Abnormal pancreatic duct morphology, Maternal diabetes, Pancreatic calcification, Pancr... |
ORPHA:103918 |
| Igg4-Related Thyroid Disease |
|
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Thyroiditis, Abnormal pituitary gland mor... |
ORPHA:64744 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Splenic... |
OMIM:610199 |
| Atelosteogenesis Type I |
|
Abnormal ossification involving the femoral head and neck, Absent or minimally ossified vertebral... |
ORPHA:1190 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus |
ORPHA:65288 |
| Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Cholangitis, Abnormal ... |
ORPHA:449432 |
| Attrv122I Amyloidosis |
|
Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos... |
ORPHA:85451 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ambiguous genitalia, Pancreatic fibrosis, Ventricular septal defect |
OMIM:615503 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Abnormal bone ossification, Cardiomegaly, Abnormal thymus morphology, Joint hypermobi... |
ORPHA:2463 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Diabete... |
ORPHA:534 |
| Coronary Arterial Fistula |
|
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... |
ORPHA:2041 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Hepatomegaly, Craniosynostosis, Hepatic fibrosis, Pancreatic fibrosis, Polysplenia |
OMIM:200995 |
| Jacobsen Syndrome |
|
Annular pancreas, Hypospadias, Labial hypoplasia, Ventricular septal defect, Clitoral hypoplasia,... |
OMIM:147791 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cryptorchidism, Arthrogryposis multiplex congenita, Cardiomegaly, Joint hypermobili... |
OMIM:618143 |
| Williams Syndrome |
|
Cholelithiasis, Hypoplasia of penis, Precocious puberty, Hypothyroidism, Functional abnormality o... |
ORPHA:904 |
| Meckel Syndrome, Type 7 |
|
Situs inversus totalis, Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferat... |
OMIM:267010 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Cardiomegaly, Adrenocortical carcinoma, Cardiomyopathy, Pancreatic... |
OMIM:130650 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Precocious puberty, Cardiomegaly, Joint hypermobility, C... |
ORPHA:96191 |
| Sandhoff Disease |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Impotence |
OMIM:268800 |
| Pancreatitis, Hereditary |
|
Pancreatic pseudocyst, Pancreatitis, Exocrine pancreatic insufficiency, Pancreatic calcification,... |
OMIM:167800 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomyopathy, Hypothyroidism, Left ventricular hypertrophy, Cardiomegaly |
OMIM:617713 |
| Mitchell-Riley Syndrome |
|
Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Absent gallbladder, Acholi... |
OMIM:615710 |
| Cantú Syndrome |
|
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Osteoporosis |
ORPHA:1517 |
| Long-Olsen-Distelmaier Syndrome |
|
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect |
OMIM:620609 |
| Ciliary Dyskinesia, Primary, 1 |
|
Absent outer dynein arms, Male infertility |
OMIM:244400 |
| Bohring-Opitz Syndrome |
|
Hyperechogenic pancreas, Camptodactyly, Flexion contracture, Atrial septal defect, Ventricular se... |
OMIM:605039 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Hypogonadism, Annular pancreas, Cryptorchidism, Osteoporosis |
OMIM:268400 |
| Alveolar Echinococcosis |
|
Abnormal adrenal morphology, Jaundice, Liver abscess, Cholangitis, Bone cyst, Abnormal spleen mor... |
ORPHA:284 |
| Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Right atrial enlargement, Left ventri... |
ORPHA:57777 |
| Congenital Disorder Of Glycosylation, Type It |
|
Delayed puberty, Hepatomegaly, Intrahepatic cholestasis, Increased hepatic glycogen content, Hepa... |
OMIM:614921 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Cardiomyopathy, Impotence |
OMIM:105210 |
| Opitz Gbbb Syndrome |
|
Hypospadias, Thyroglossal cyst, Bifid scrotum, Bicornuate uterus, Shawl scrotum, Enlarged ovaries... |
ORPHA:2745 |
| Meckel Syndrome |
|
Situs inversus totalis, Accessory spleen, Asplenia, Cryptorchidism, Male pseudohermaphroditism, T... |
ORPHA:564 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Hepatomegaly, Abnormality of the pancreas, Abnormally ossified vertebrae |
ORPHA:1318 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Joint hypermobility, Ventricular septal defect |
OMIM:618798 |
| Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
| Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Decreased circulating cortisol level |
OMIM:618838 |
| Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:391428 |
| Trisomy 8P |
|
Annular pancreas, Abnormal left ventricle morphology, Multiple joint contractures, Dysplastic aor... |
ORPHA:264450 |
| Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
ORPHA:99931 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Ankylosis, Dilated cardiomyopathy, Hypophosphatemic rickets |
OMIM:208000 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... |
ORPHA:439 |
| Cystic Fibrosis |
|
Osteopenia, Absent vas deferens, Cirrhosis, Male infertility, Osteoporosis, Exocrine pancreatic i... |
ORPHA:586 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Abnormal pancreas morphology, Cardiomegaly, Visceromegaly, Hypertr... |
ORPHA:116 |
| Fucosidosis |
|
Cardiomegaly, Abnormality of the gallbladder, Hypothyroidism, Hepatomegaly |
ORPHA:349 |
| Von Hippel-Lindau Syndrome |
|
Hepatic hemangioma, Neoplasm of the pancreas, Pheochromocytoma, Papillary cystadenoma of the epid... |
OMIM:193300 |
| Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
| Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Hypoplasia of the thymus, Cardiomegaly, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
| Aceruloplasminemia |
|
Elevated hepatic iron concentration, Diabetes mellitus, Abnormal pancreas morphology |
ORPHA:48818 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Elbow flexion contracture, Knee ... |
OMIM:608836 |
| X-Linked Intellectual Disability, Snyder Type |
|
Testicular atrophy, Cryptorchidism, Hypospadias, Abnormality of the Leydig cells |
ORPHA:3063 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Jaundice, Early ossification of capital femoral epiphyses, Polycystic liver disease, Bile duct pr... |
OMIM:208500 |
| Steinert Myotonic Dystrophy |
|
Abnormality of thyroid physiology, Hyperinsulinemia, Decreased response to growth hormone stimula... |
ORPHA:273 |
| Leprechaunism |
|
Clitoral hypertrophy, Hyperinsulinemia, Long penis, Increased circulating renin level, Central hy... |
ORPHA:508 |
| Aorta Coarctation |
|
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... |
ORPHA:1457 |
| Bohring-Opitz Syndrome |
|
Annular pancreas, Fixed elbow flexion, Cholelithiasis, Limitation of joint mobility, Bilateral wr... |
ORPHA:97297 |
| Xeroderma Pigmentosum, Complementation Group E |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278740 |
| 1P36 Deletion Syndrome |
|
Annular pancreas, Abnormal female external genitalia morphology, Hypospadias, Hypoplasia of penis... |
ORPHA:1606 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Delayed puberty, Patent foramen ovale, Ventricular septal defect, Synostosis of the proximal phal... |
OMIM:300967 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Hypospadias, Joint hypermobility, Abnormal heart morphology, Bicuspid aortic valve, Ambiguous gen... |
OMIM:301111 |
| Alström Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... |
ORPHA:64 |
| Fryns Syndrome |
|
Hypospadias, Bifid scrotum, Bicornuate uterus, Ventricular septal defect, Camptodactyly, Ectopic ... |
OMIM:229850 |
| Von Hippel-Lindau Disease |
|
Myocarditis, Neoplasm of the pancreas, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Panc... |
ORPHA:892 |
| Mucopolysaccharidosis Type 3 |
|
Reduced bone mineral density, Hepatomegaly, Abnormal aortic valve morphology, Craniofacial hypero... |
ORPHA:581 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... |
OMIM:231005 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Pancreatic fibrosis, Ambiguous genitalia, Hepatic fibrosis, Ventricular sep... |
OMIM:263520 |
| Distal Deletion 12Q |
|
Annular pancreas, Maturity-onset diabetes of the young, Biliary atresia, Patent foramen ovale, El... |
ORPHA:96149 |
| Schinzel-Giedion Syndrome |
|
Annular pancreas, Hypospadias, Central hypothyroidism, Streak ovary, Micropenis |
ORPHA:798 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Hepatomegaly, Hepatic steatosis |
OMIM:255120 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary valve atresia, Annular pancreas, Atrioventricular canal defect, Parachute mitral valve,... |
OMIM:265380 |
| Limb-Mammary Syndrome |
|
Breast aplasia, Aplasia of the uterus, Hypoplastic nipples, Absent nipple, Bilateral breast hypop... |
ORPHA:69085 |
| Xeroderma Pigmentosum, Complementation Group C |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278720 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Enlarged kidney, Hepatomegaly, Pathologic fracture, Limitation of joint mobility, Hyp... |
OMIM:252500 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Jaundice, Hepatomegaly, Congenital hydrocele, Arthritis, Parotitis, Cholestasis, Hepatosplenomega... |
OMIM:620376 |
| Complete Atrioventricular Septal Defect |
|
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... |
ORPHA:1329 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
| Xeroderma Pigmentosum, Complementation Group A |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278700 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Limited elbow movement, Limited knee flexion/extension, Right ventricular hypertrophy, Cardiomega... |
ORPHA:268 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hepatomegaly, Hypoparathyroidism, Cardiomy... |
ORPHA:699 |
| Liver Disease, Severe Congenital |
|
Left atrial enlargement, Biliary hyperplasia, Splenomegaly, Cardiomegaly, Joint hypermobility, He... |
OMIM:619991 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Arthrogryposis multiplex congenita |
OMIM:608013 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,... |
ORPHA:2255 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278730 |
| Abetalipoproteinemia |
|
Osteopenia, Cirrhosis, Hepatomegaly, Hypothyroidism, Cardiomegaly, Hepatic fibrosis, Hepatic stea... |
ORPHA:14 |
| Pancreatic Agenesis 2 |
|
Diabetes mellitus, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia |
OMIM:615935 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content |
OMIM:619259 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Pancreatitis, Splenic cyst, Tracheomalacia, Patent foramen ovale, Hepatic sinusoidal dilatation, ... |
OMIM:620371 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polysplenia, Polycystic liver disease |
OMIM:211890 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Cystic Fibrosis |
|
Cirrhosis, Hepatomegaly, Pancreatitis, Male infertility, Biliary cirrhosis, Hepatosplenomegaly, E... |
OMIM:219700 |
| 17Q12 Microdeletion Syndrome |
|
Shawl scrotum, Diabetes mellitus, Cryptorchidism, Pancreatic aplasia |
ORPHA:261265 |
| Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Neonatal insulin-de... |
OMIM:260370 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Enlarged kidney, Pituitary growth hormone cell adenoma, Polycystic liver disease, Reduced sperm m... |
ORPHA:730 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Annular pancreas, Hypospadias, Patent foramen ovale, Cryptorchidism, Ventricular septal defect |
OMIM:616975 |
| Danon Disease |
|
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... |
OMIM:300257 |
| Shwachman-Diamond Syndrome 2 |
|
Hyperechogenic pancreas, Exocrine pancreatic insufficiency, Hepatomegaly |
OMIM:617941 |
| Feingold Syndrome |
|
Annular pancreas, Abnormality of the spleen |
ORPHA:1305 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology, Cardiomegaly, Hepatic calcification... |
ORPHA:228308 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... |
OMIM:601214 |
| Jacobsen Syndrome |
|
Annular pancreas, Ventricular septal defect, Aortic valve stenosis, Cryptorchidism, Hypoplastic l... |
ORPHA:2308 |
| Ogden Syndrome |
|
Left atrial enlargement, Perimembranous ventricular septal defect, Jaundice, Macrovesicular hepat... |
OMIM:300855 |
| Proteus Syndrome |
|
Ovarian neoplasm, Long penis, Testicular neoplasm, Diabetes insipidus, Enlarged polycystic ovarie... |
ORPHA:744 |
| Yunis-Varon Syndrome |
|
Clitoral hypertrophy, Hypospadias, Absent sternal ossification, Ventricular septal defect, Decrea... |
ORPHA:3472 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Camptodactyly of toe, Cardiomyopathy |
ORPHA:158687 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Flexion contracture... |
OMIM:256040 |
| Feingold Syndrome 1 |
|
Annular pancreas, Tricuspid atresia, Accessory spleen, Tricuspid stenosis, Asplenia, Ventricular ... |
OMIM:164280 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Osteoporosis, Flexion contracture, Left ventricular hy... |
ORPHA:365 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
ORPHA:308552 |
| Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Pancreatic aplasia, Joint stiffness, Secundum atrial septal defect, Flexio... |
OMIM:609069 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... |
OMIM:261740 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cy... |
OMIM:263200 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... |
OMIM:620066 |
| Congenital Tracheomalacia |
|
Tracheomalacia, Tracheobronchomalacia, Abnormal heart morphology, Tetralogy of Fallot, Partial an... |
ORPHA:95430 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Joint hypermobility, Annular pancreas, Hip contracture, Knee flexion contracture |
ORPHA:488642 |
| Fucosidosis |
|
Cardiomegaly, Flexion contracture, Hepatomegaly, Splenomegaly |
OMIM:230000 |
| Truncus Arteriosus |
|
Adrenocortical abnormality, Transposition of the great arteries, Abnormal heart valve morphology,... |
ORPHA:3384 |
| Aicardi-Goutières Syndrome |
|
Arthritis, Hypertrophic cardiomyopathy, Hypothyroidism, Prolonged neonatal jaundice, Diabetes mel... |
ORPHA:51 |
| Cystinosis, Nephropathic |
|
Delayed puberty, Male infertility, Primary hypothyroidism, Diabetes mellitus, Male hypogonadism |
OMIM:219800 |
| Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Macronodular cirrhosis, Exocrine pancreatic insufficiency, Type I diabetes mellitus... |
OMIM:557000 |
| Noonan Syndrome 1 |
|
Male infertility, Cryptorchidism, Hypospadias, Hypogonadism |
OMIM:163950 |
| Floating-Harbor Syndrome |
|
Ivory epiphyses of the distal phalanges of the hand, Mesocardia, Hypospadias, Glandular hypospadi... |
OMIM:136140 |
| Generalized Arterial Calcification Of Infancy |
|
Hypophosphatemic rickets, Fused cervical vertebrae, Cardiomegaly, Abnormal calcification of the c... |
ORPHA:51608 |
| Glycogen Storage Disease Ii |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:232300 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla... |
ORPHA:1677 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Microvesicular hepatic steatosis, Ventricular hypertrophy, Hepatocellular necrosis,... |
OMIM:618278 |
| Absence Of The Pulmonary Artery |
|
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... |
ORPHA:980 |
| Interatrial Communication |
|
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... |
ORPHA:1478 |
| Floating-Harbor Syndrome |
|
Mesocardia, Hypospadias, Precocious puberty, Varicocele, Tetralogy of Fallot, Epididymal cyst, At... |
ORPHA:2044 |
| Singleton-Merten Syndrome 1 |
|
Osteopenia, Osteolytic defects of the phalanges of the hand, Osteoporosis, Mitral valve calcifica... |
OMIM:182250 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... |
ORPHA:99125 |
| Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re... |
ORPHA:75565 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
