| Partial Chromosome Y Deletion |
|
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... |
ORPHA:1646 |
| Spermatogenic Failure 57 |
|
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... |
OMIM:619528 |
| Spermatogenic Failure 50 |
|
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619145 |
| 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 |
| Spermatogenic Failure 30 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism |
OMIM:618110 |
| 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 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 |
| 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 |
| Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... |
ORPHA:98798 |
| Spermatogenic Failure 12 |
|
Abnormal male germ cell morphology, Infertility, Azoospermia |
OMIM:615413 |
| Spermatogenic Failure 35 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... |
OMIM:618341 |
| Spermatogenic Failure 20 |
|
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 63 |
|
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility |
OMIM:619689 |
| Spermatogenic Failure 70 |
|
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia |
OMIM:619828 |
| Spermatogenic Failure 22 |
|
Male infertility, Cryptozoospermia, Non-obstructive azoospermia |
OMIM:617706 |
| Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
| 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, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Spermatogenic Failure 37 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... |
OMIM:617965 |
| Spermatogenic Failure 33 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:618152 |
| Spermatogenic Failure 43 |
|
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... |
OMIM:618751 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:619094 |
| 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, X-Linked, 5 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... |
OMIM:301099 |
| Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
| Spermatogenic Failure 78 |
|
Male infertility, Tapered sperm head, Microcephalic sperm head |
OMIM:620170 |
| 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 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... |
OMIM:620354 |
| Spermatogenic Failure 65 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... |
OMIM:619712 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... |
OMIM:611102 |
| Spermatogenic Failure, X-Linked, 3 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... |
OMIM:301059 |
| Spermatogenic Failure 84 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:620409 |
| Spermatogenic Failure 40 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... |
OMIM:620084 |
| Spermatogenic Failure 80 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... |
OMIM:620222 |
| Spermatogenic Failure 56 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:619515 |
| Spermatogenic Failure 47 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella |
OMIM:619102 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
| Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility |
OMIM:614822 |
| Spermatogenic Failure 8 |
|
Oligozoospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
| Spermatogenic Failure 58 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... |
OMIM:619585 |
| Spermatogenic Failure 79 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility |
OMIM:620196 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Spermatogenic Failure 54 |
|
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... |
OMIM:619379 |
| Spermatogenic Failure 1 |
|
Male infertility, Oligozoospermia, Cryptozoospermia |
OMIM:258150 |
| Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, male, Male infertility, Male hypogonadism, Gonadal dysgenesis, Abnormality o... |
ORPHA:261529 |
| Spermatogenic Failure 42 |
|
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... |
OMIM:618745 |
| Spermatogenic Failure 39 |
|
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... |
OMIM:618643 |
| Spermatogenic Failure 5 |
|
Male infertility, Macrozoospermia, Multiflagellar spermatozoa |
OMIM:243060 |
| Spermatogenic Failure 7 |
|
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Spermatogenic Failure 41 |
|
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm |
OMIM:618670 |
| Spermatogenic Failure 87 |
|
Male infertility, Ruffled acrosome |
OMIM:620500 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure, X-Linked, 6 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... |
OMIM:301101 |
| Spermatogenic Failure 86 |
|
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... |
OMIM:620499 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism |
OMIM:261550 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... |
ORPHA:399808 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility |
ORPHA:488191 |
| Spermatogenic Failure 75 |
|
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... |
OMIM:619949 |
| Spermatogenic Failure 44 |
|
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... |
OMIM:619044 |
| Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... |
OMIM:616950 |
| Spermatogenic Failure 77 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... |
OMIM:620103 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Testicular atrophy, Azoospermia |
ORPHA:276183 |
| Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... |
OMIM:108420 |
| Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
| Spermatogenic Failure 51 |
|
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... |
OMIM:619177 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility, Lack of oocyte pronucleus formation |
OMIM:617996 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle |
OMIM:619011 |
| Spermatogenic Failure 81 |
|
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility |
OMIM:620277 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
| 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 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Oocyte/Zygote/Embryo Maturation Arrest 21 |
|
Female infertility |
OMIM:620610 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... |
OMIM:612885 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... |
ORPHA:52901 |
| Hypogonadism, Male |
|
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias |
OMIM:241100 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... |
OMIM:228300 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... |
OMIM:229070 |
| Young Syndrome |
|
Azoospermia |
OMIM:279000 |
| Spermatogenic Failure 28 |
|
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... |
OMIM:618086 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
| 46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism |
ORPHA:393 |
| Premature Ovarian Failure 2B |
|
Delayed puberty, Premature ovarian insufficiency, Female infertility, Primary amenorrhea |
OMIM:300604 |
| Ovarian Dysgenesis 2 |
|
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... |
OMIM:300510 |
| Spermatogenic Failure 14 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... |
OMIM:615842 |
| Morbid Obesity And Spermatogenic Failure |
|
Infertility, Oligozoospermia, Type II diabetes mellitus, Azoospermia |
OMIM:615703 |
| Premature Ovarian Failure 5 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Reduced antral fo... |
OMIM:611548 |
| Hyperprolactinemia |
|
Increased circulating prolactin concentration, Oligomenorrhea, Menorrhagia, Female infertility |
OMIM:615555 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level |
OMIM:619009 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... |
OMIM:301106 |
| Spermatogenic Failure 38 |
|
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... |
OMIM:618433 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... |
OMIM:614837 |
| 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 |
| Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... |
OMIM:612310 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
| Premature Ovarian Failure 13 |
|
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... |
OMIM:617442 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism |
ORPHA:3000 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia |
ORPHA:2578 |
| Perrault Syndrome 6 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... |
OMIM:617565 |
| Spermatogenic Failure 6 |
|
Male infertility, Globozoospermia, Decreased acrosin in sperm head |
OMIM:102530 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
| Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... |
ORPHA:263458 |
| Hemochromatosis, Type 2A |
|
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia |
OMIM:602390 |
| Ovarian Dysgenesis 9 |
|
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... |
OMIM:619665 |
| Ovarian Dysgenesis 10 |
|
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... |
OMIM:619834 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadal dysgenesis, Abnormal female external genitalia morphology, Streak ovary, Abnormal vagina ... |
ORPHA:168563 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Male infertility, Oligozoospermia, Absent vas deferens |
ORPHA:48 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Azoospermia |
ORPHA:2183 |
| Spermatogenic Failure 13 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... |
OMIM:615841 |
| Androgen Insensitivity, Partial |
|
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... |
OMIM:312300 |
| Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea |
ORPHA:397685 |
| Spermatogenic Failure 24 |
|
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... |
OMIM:617959 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... |
OMIM:614897 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... |
ORPHA:90797 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... |
OMIM:619203 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... |
OMIM:614841 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... |
OMIM:301077 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Delayed puberty, Increased female libido, Breast hypoplasia, Hypoplasia of the uterus, Absence of... |
ORPHA:432 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
| Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy |
ORPHA:481 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:300971 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... |
ORPHA:251510 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... |
ORPHA:983 |
| 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 |
| Premature Ovarian Failure 8 |
|
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... |
OMIM:615723 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... |
OMIM:615724 |
| Premature Ovarian Failure 21 |
|
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... |
OMIM:620311 |
| Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
| Ciliary Dyskinesia, Primary, 51 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:620438 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Amenorrhea, Female infertility |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Amenorrhea, Female infertility |
OMIM:620383 |
| Adrenal Hypoplasia, Congenital |
|
Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Absence of... |
OMIM:300200 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... |
OMIM:618841 |
| Ovarian Dysgenesis 3 |
|
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... |
OMIM:614324 |
| Premature Ovarian Failure 22 |
|
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... |
OMIM:620548 |
| Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... |
OMIM:614129 |
| 48,Xyyy Syndrome |
|
Primary gonadal insufficiency, Male hypogonadism, Azoospermia |
ORPHA:99329 |
| Ciliary Dyskinesia, Primary, 40 |
|
Absent outer dynein arms, Infertility, Patent ductus arteriosus, Azoospermia |
OMIM:618300 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... |
OMIM:308700 |
| 46,Xx Gonadal Dysgenesis |
|
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas... |
ORPHA:243 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for external gen... |
ORPHA:261519 |
| Asherman Syndrome |
|
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... |
ORPHA:137686 |
| Glycogen Storage Disease 0, Liver |
|
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Type II diabetes mellitus... |
ORPHA:79299 |
| 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 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Azoospermia, Hypergonadot... |
ORPHA:280679 |
| 47,Xyy Syndrome |
|
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... |
ORPHA:8 |
| 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 |
| 49,Xyyyy Syndrome |
|
External genital hypoplasia, Azoospermia, Abnormality of the testis size, Decreased testicular si... |
ORPHA:99330 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
| Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... |
ORPHA:206484 |
| Obesity Due To Congenital Leptin Deficiency |
|
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... |
ORPHA:66628 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperkalemia, Hyperchloremia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperkalemia, Hyperchloremia |
OMIM:614495 |
| Xp22.3 Microdeletion Syndrome |
|
Secondary amenorrhea, Polycystic ovaries, Decreased fertility, Hypogonadotropic hypogonadism |
ORPHA:1643 |
| Hypogonadism-Cataract Syndrome |
|
Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona... |
OMIM:240950 |
| Frasier Syndrome |
|
Ambiguous genitalia, male, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Primary am... |
ORPHA:347 |
| Hemochromatosis, Type 1 |
|
Azoospermia, Impotence, Diabetes mellitus, Amenorrhea, Hypogonadotropic hypogonadism, Testicular ... |
OMIM:235200 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:214700 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... |
ORPHA:179494 |
| 46,Xx Sex Reversal 1 |
|
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... |
OMIM:400045 |
| Satoyoshi Syndrome |
|
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of... |
ORPHA:3130 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Streak ovary,... |
OMIM:194072 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... |
ORPHA:90791 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Anterior hypopituit... |
ORPHA:2235 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Abnormal reproductive sys... |
ORPHA:1916 |
| 48,Xxyy Syndrome |
|
Hypoplasia of penis, Azoospermia, Infertility, Hypergonadotropic hypogonadism, Decreased testicul... |
ORPHA:10 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis |
ORPHA:242 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Small pituitary gla... |
ORPHA:2232 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia |
OMIM:613090 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperkalemia, Hyperchloremia |
OMIM:614496 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Azoospermia |
OMIM:615234 |
| 46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallo... |
OMIM:233420 |
| Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati... |
OMIM:619938 |
| Ovarian Fibrothecoma |
|
Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... |
ORPHA:314478 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism |
ORPHA:2229 |
| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Infertility, Hypothyroidism, Male p... |
OMIM:264300 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... |
ORPHA:2138 |
| Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del... |
ORPHA:99429 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Decreased circulating renin level, Hyperchloremia |
OMIM:614492 |
| Functioning Gonadotropic Adenoma |
|
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... |
ORPHA:91348 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries |
ORPHA:2795 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
| Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
| 46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Infertility, Male pseudohermaphroditism, Hypothyroidism, Ambiguous genitalia, Cryptorchidism, Hyp... |
ORPHA:752 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Decreased cirrculating antimullerian hormo... |
OMIM:300845 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:620197 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... |
ORPHA:91 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia, Hyperlipidemia |
OMIM:232700 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital s... |
ORPHA:1772 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:308750 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... |
ORPHA:90793 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating hormone concentration, Infertility, Oligomenorrhea, Polycy... |
ORPHA:280356 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia |
OMIM:240900 |
| Hepatic Adenomas, Familial |
|
Polycystic ovaries, Maturity-onset diabetes of the young |
OMIM:142330 |
| Polycystic Ovary Syndrome 1 |
|
Oligomenorrhea, Amenorrhea, Enlarged polycystic ovaries |
OMIM:184700 |
| Tetragametic Chimerism |
|
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... |
ORPHA:199310 |
| Aromatase Deficiency |
|
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism |
OMIM:613546 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadism, Adrena... |
ORPHA:300298 |
| 48,Xxxy Syndrome |
|
Hypoplasia of penis, Azoospermia, Infertility, Decreased testicular size, Type II diabetes mellit... |
ORPHA:96263 |
| Familial Glucocorticoid Deficiency |
|
Azoospermia, Decreased circulating dehydroepiandrosterone concentration, Cryptorchidism, Precocio... |
ORPHA:361 |
| Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased circulating iron concentration, Hypoglycemia |
ORPHA:446 |
| 49,Xxxxy Syndrome |
|
Hypoplasia of penis, Azoospermia, Infertility, Decreased testicular size, Type II diabetes mellit... |
ORPHA:96264 |
| Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Primary... |
ORPHA:247768 |
| Woodhouse-Sakati Syndrome |
|
Delayed puberty, Premature ovarian insufficiency, Decreased response to growth hormone stimulatio... |
ORPHA:3464 |
| 8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, P... |
ORPHA:251066 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperkalemia, Neonatal hypoglycemia, Abnormal ovarian physiology, Hypochloremia, Hyponatremia, Ol... |
ORPHA:90794 |
| Ovarian Fibroma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
| Ring Chromosome 22 Syndrome |
|
Azoospermia |
ORPHA:1446 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia |
OMIM:602522 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Deficient excision of UV-induced pyrimidine dimers in DNA, Hypergonadotropic hy... |
OMIM:227650 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... |
OMIM:601678 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperammonemia, Increased C-peptide level, Hypoglycemia,... |
OMIM:620211 |
| 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 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Hypocalcemic seizures, Hypocalcemia, Hypomagnesemia, Hyperphosphatemia |
ORPHA:2239 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter, Female infertility |
OMIM:617577 |
| Ciliary Dyskinesia, Primary, 45 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:618801 |
| Bartter Syndrome Type 4 |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Hypomagnesemia |
ORPHA:89938 |
| Bloom Syndrome |
|
Azoospermia, Abnormality of chromosome stability, Chromosome breakage, Type II diabetes mellitus,... |
OMIM:210900 |
| Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Hypogonadism |
OMIM:160900 |
| Classic Galactosemia |
|
Delayed puberty, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, M... |
ORPHA:79239 |
| Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Deafness-Hypogonadism Syndrome |
|
Delayed puberty, Abnormal spermatogenesis, Hypergonadotropic hypogonadism |
ORPHA:90646 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circulating gonadotrop... |
OMIM:110100 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... |
OMIM:241200 |
| Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
| Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
| Fanconi Anemia, Complementation Group E |
|
Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-induced pyrimidine ... |
OMIM:600901 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| H Syndrome |
|
Delayed puberty, Azoospermia, Decreased testicular size, Hypogonadism, Amenorrhea, Diabetes melli... |
ORPHA:168569 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hyperammonemia, Hypoglycemia |
ORPHA:6 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Anterior hypopituitarism, Oligozoospermia, Panhypopituitarism, Hyperpit... |
ORPHA:91351 |
| Estrogen Resistance |
|
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre... |
OMIM:615363 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated circulating suberic acid concentration, Increased serum pyruvate, Hyperalaninemia, Hyper... |
OMIM:615160 |
| Non-Functioning Pituitary Adenoma |
|
Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency... |
ORPHA:91349 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Lacrimal gland aplasia, Decreased circ... |
ORPHA:572333 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycystic ovaries, Insulin-... |
ORPHA:79085 |
| Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms |
OMIM:614874 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Erectile dysfunction, Infertility, Decreased libido, Testicular atrophy, Hypothyroidism, Amenorrh... |
ORPHA:465508 |
| Fanconi Anemia, Complementation Group C |
|
Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-induced pyrimidine ... |
OMIM:227645 |
| Ciliary Dyskinesia, Primary, 9 |
|
Absent outer dynein arms, Male infertility |
OMIM:612444 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Endometriosis, Aplasia of the uterus, Dyspareunia, Ectopic ovary, Hypoplasia of the vagina, Prima... |
ORPHA:3109 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Clitoral hypertrophy, Premature pubarche, Is... |
ORPHA:90795 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil... |
OMIM:613807 |
| Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Hypoglycemia |
ORPHA:664 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... |
OMIM:277000 |
| Hemochromatosis, Neonatal |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Abnormali... |
OMIM:231100 |
| Prolactinoma |
|
Delayed puberty, Erectile dysfunction, Dyspareunia, Impotence, Female hypogonadism, Hypogonadism,... |
ORPHA:2965 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Abnormal circulating testosterone concentration, Infertility, Oligozoospermia, Increased urinary ... |
ORPHA:786 |
| Congenital Factor Vii Deficiency |
|
Menorrhagia, Ovarian cyst |
ORPHA:327 |
| Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Deficient excision of UV-induced pyrimidine dimers in DNA, Hypergonadotropic hy... |
OMIM:227646 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Azoospermia, Pancreatic hypoplasia, Hyperg... |
OMIM:602782 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Hypoglycemia, Postp... |
OMIM:262190 |
| Hypoplasminogenemia |
|
Abnormal fallopian tube morphology, Cervicitis, Abnormality of the ovary |
ORPHA:722 |
| 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 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... |
OMIM:157640 |
| Fanconi Anemia |
|
Hypospadias, Abnormal preputium morphology, Azoospermia, Patent ductus arteriosus, Decreased fert... |
ORPHA:84 |
| Aarskog-Scott Syndrome |
|
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... |
OMIM:305400 |
| De Sanctis-Cacchione Syndrome |
|
Defective DNA repair after ultraviolet radiation damage, Gonadal hypoplasia, Bilateral cryptorchi... |
OMIM:278800 |
| Xfe Progeroid Syndrome |
|
Defective DNA repair after ultraviolet radiation damage, Premature ovarian insufficiency |
OMIM:610965 |
| Leopard Syndrome 1 |
|
Delayed puberty, Hypospadias, Hypoplasia of the ovary, Delayed menarche, Cryptorchidism, Micropen... |
OMIM:151100 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sinus anomaly, Cryptorchidism, ... |
OMIM:618820 |
| Myotonic Dystrophy 2 |
|
Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulating hormone lev... |
OMIM:602668 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... |
OMIM:278760 |
| Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
OMIM:240200 |
| Ciliary Dyskinesia, Primary, 19 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:614935 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Abnormal testis morphology, Hypogo... |
ORPHA:85450 |
| Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Infertility, Irregular menstruation |
OMIM:615962 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... |
ORPHA:95699 |
| Bardet-Biedl Syndrome 1 |
|
Abnormality of the ovary, Nephrogenic diabetes insipidus, Decreased testicular size, Vaginal atre... |
OMIM:209900 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Trichothiodystrophy |
|
Gonadal dysgenesis, Cryptorchidism, Defective DNA repair after ultraviolet radiation damage |
ORPHA:33364 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hypoplasia of the ovary, Micropenis, Decreased testicular size |
OMIM:619321 |
| Bardet-Biedl Syndrome |
|
Hydrometrocolpos, Aplasia/Hypoplasia of the vagina, Hypoplasia of penis, Hypoplasia of the ovary,... |
ORPHA:110 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
| Carney Complex |
|
Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria... |
ORPHA:1359 |
| Alg9-Cdg |
|
Hypoplasia of the ovary, Hypoplastic nipples, Bicornuate uterus |
ORPHA:79328 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Diabete... |
ORPHA:534 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Delayed puberty, Cholelithiasis, Azoospermia |
ORPHA:2072 |
| Ciliary Dyskinesia, Primary, 1 |
|
Absent outer dynein arms, Male infertility |
OMIM:244400 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid... |
ORPHA:99413 |
| Turner Syndrome |
|
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid... |
ORPHA:99228 |
| Monosomy X |
|
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid... |
ORPHA:99226 |
| Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Abnormality of thyroid p... |
ORPHA:273 |
| X-Linked Intellectual Disability, Snyder Type |
|
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias |
ORPHA:3063 |
| Schinzel-Giedion Syndrome |
|
Annular pancreas, Hypospadias, Central hypothyroidism, Streak ovary, Micropenis |
ORPHA:798 |
| Xeroderma Pigmentosum, Complementation Group E |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278740 |
| Xeroderma Pigmentosum, Complementation Group C |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278720 |
| Xeroderma Pigmentosum, Complementation Group A |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278700 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278730 |
| Cystic Fibrosis |
|
Absent vas deferens, Male infertility |
ORPHA:586 |
| Noonan Syndrome 1 |
|
Male infertility, Hypospadias, Hypogonadism, Patent ductus arteriosus, Cryptorchidism |
OMIM:163950 |
| Cystinosis, Nephropathic |
|
Delayed puberty, Male infertility, Primary hypothyroidism, Diabetes mellitus, Male hypogonadism |
OMIM:219800 |
| Cystic Fibrosis |
|
Male infertility |
OMIM:219700 |
