Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... |
ORPHA:1646 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... |
ORPHA:98797 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... |
ORPHA:98798 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility |
OMIM:619689 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... |
ORPHA:399805 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Azoospermia, Male hypogonadism |
OMIM:241000 |
Oocyte Maturation Defect 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... |
ORPHA:261529 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... |
ORPHA:52901 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... |
ORPHA:399808 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:108420 |
Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
Oocyte Maturation Defect 12 |
|
Female infertility |
OMIM:619697 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia, Spermatocele |
OMIM:301060 |
Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:616950 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... |
OMIM:619177 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Partial Androgen Insensitivity Syndrome |
|
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... |
ORPHA:90797 |
Oocyte Maturation Defect 10 |
|
Female infertility |
OMIM:619176 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... |
OMIM:612885 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... |
OMIM:229070 |
Premature Ovarian Failure 5 |
|
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... |
OMIM:611548 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Infertility, Impotence, Decreased serum testosterone concentration, Cryptorchidism, Small pituita... |
ORPHA:2232 |
Cone-Rod Dystrophy 1 |
|
Hypogonadism |
OMIM:600624 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... |
OMIM:614324 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... |
OMIM:614837 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... |
OMIM:300510 |
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome |
|
Intrauterine growth retardation, Decreased testicular size, Short stature |
ORPHA:436144 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Spermatogenic Failure 28 |
|
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... |
OMIM:618086 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Premature Ovarian Failure 6 |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... |
OMIM:612310 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Hypogonadotropic hypogonadism |
ORPHA:1180 |
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 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... |
OMIM:617565 |
Xq27.3Q28 Duplication Syndrome |
|
Failure to thrive, Short stature, Truncal obesity, Decreased testicular size, Hypogonadism, Crypt... |
ORPHA:261483 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Male infertility, Absent vas deferens |
OMIM:277180 |
46,Xx Testicular Disorder Of Sex Development |
|
Polycystic ovaries, Ambiguous genitalia, Decreased testicular size, Male hypogonadism |
ORPHA:393 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
Ovarian Dysgenesis 10 |
|
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... |
OMIM:619834 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Micropenis, Short stature, Hypogonadism, Obesity, Cryptorchidism |
ORPHA:85274 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism |
ORPHA:3000 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Female infertility, Hypoplasia of the uterus, Oligomenorrhea, Elevated circulating fo... |
OMIM:617442 |
Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
Spermatogenic Failure, X-Linked, 4 |
|
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating lutein... |
OMIM:301077 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Hypergonadotropic hypogonadism, Streak ovary |
OMIM:241090 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... |
OMIM:228300 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Oligospermia, Azoospermia, Type II diabetes mellitus |
OMIM:615703 |
Androgen Insensitivity, Partial |
|
Infertility, Bifid scrotum, Micropenis, Male pseudohermaphroditism, Absent vas deferens, Hypogona... |
OMIM:312300 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619203 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619665 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism |
ORPHA:1875 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spastic Paraparesis And Deafness |
|
Short stature, Hypogonadism |
OMIM:312910 |
Deafness, Congenital, With Total Albinism |
|
Hypogonadism |
OMIM:220900 |
Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Decreased serum testosterone concentration, Mi... |
OMIM:614841 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:615723 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... |
OMIM:614840 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Infertility, Abnormal vagina morphology, Hypoplasia of the uterus, Decreased serum testosterone c... |
ORPHA:168563 |
Spastic Paraparesis-Deafness Syndrome |
|
Short stature, Hypogonadism |
ORPHA:2815 |
Bardet-Biedl Syndrome 11 |
|
Obesity, Hypogonadism |
OMIM:615988 |
Hemochromatosis, Type 2A |
|
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia |
OMIM:602390 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... |
OMIM:617959 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... |
OMIM:614897 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Hypogonadism |
OMIM:615234 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Infertility, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased testicular ... |
OMIM:146110 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Short stature, Macroorchidism |
OMIM:300428 |
Bardet-Biedl Syndrome 12 |
|
Obesity, Hypogonadism |
OMIM:615989 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Impotence, Hypoplasia of the ovary, Hypoplasia of the uterus, Cryptorchi... |
ORPHA:432 |
Asherman Syndrome |
|
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... |
ORPHA:137686 |
Familial Hyperprolactinemia |
|
Amenorrhea, Infertility, Oligomenorrhea, Menorrhagia, Hemorrhagic ovarian cyst, Female hypogonadism |
ORPHA:397685 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... |
OMIM:618841 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
Leydig Cell Hypoplasia |
|
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... |
ORPHA:755 |
Leopard Syndrome 1 |
|
Hypoplasia of the ovary, Micropenis, Delayed menarche, Hypospadias, Short stature, Spina bifida o... |
OMIM:151100 |
Bardet-Biedl Syndrome 5 |
|
Obesity, External genital hypoplasia, Micropenis, Hypogonadism |
OMIM:615983 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Short stature, Postnatal growth retardation, Hypogonadism |
OMIM:616113 |
Cataract-Deafness-Hypogonadism Syndrome |
|
Short stature, Hypogonadism |
ORPHA:1383 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis |
ORPHA:2183 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
Mccune-Albright Syndrome |
|
Increased serum testosterone level, Precocious puberty, Elevated circulating growth hormone conce... |
ORPHA:562 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens |
OMIM:300985 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:66628 |
Adrenal Hypoplasia, Congenital |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... |
OMIM:300200 |
Kennedy Disease |
|
Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
Gordon Holmes Syndrome |
|
Infertility, Oligomenorrhea, Hypogonadotropic hypogonadism |
OMIM:212840 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:179494 |
Functioning Gonadotropic Adenoma |
|
Impotence, Ovarian cyst, Central diabetes insipidus, Pituitary gonadotropic cell adenoma, Enlarge... |
ORPHA:91348 |
Bardet-Biedl Syndrome 10 |
|
Obesity, Hypogonadism |
OMIM:615987 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... |
OMIM:233420 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism |
ORPHA:1014 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Premature Ovarian Failure 20 |
|
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Female infertility... |
OMIM:619938 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Abdominal obesity, Decreased serum testosterone concentration, Cryptorchidism, Small for gestatio... |
OMIM:300869 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Short stature, Hypogonadism |
OMIM:618165 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Short stature, Primary amenorrhea, Gonadal dysgenesis, Aplasia/hypoplasia of the ut... |
ORPHA:243 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... |
ORPHA:754 |
Oliver-Mcfarlane Syndrome |
|
Severe short stature, Hypoplasia of penis, Decreased response to growth hormone stimulation test,... |
OMIM:275400 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Short stature, Hypogonadism, Obesity, Abnormal testis morphology, Decreased fertility |
ORPHA:2233 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Hypergonadotropic hypogonadism, Primary amenorrhea, Gonadal dysgenesis |
OMIM:607080 |
Image Syndrome |
|
Hypospadias, Adrenal hypoplasia, Hypogonadism, Cryptorchidism, Intrauterine growth retardation |
ORPHA:85173 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Micropenis |
OMIM:601217 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Obesity, Macroorchidism |
OMIM:300238 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Short stature, Hypogonadotr... |
ORPHA:2235 |
Perrault Syndrome 4 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Oligomenorrhea, Primary ame... |
OMIM:615300 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... |
OMIM:194072 |
Xp22.3 Microdeletion Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Secondary amenorrhea, Polycystic ovaries, Decreased... |
ORPHA:1643 |
Atkin-Flaitz Syndrome |
|
Obesity, Short stature, Macroorchidism |
ORPHA:1193 |
Aromatase Deficiency |
|
Growth delay, Female infertility, Ambiguous genitalia, female, Eunuchoid habitus, Type II diabete... |
ORPHA:91 |
X-Linked Intellectual Disability, Van Esch Type |
|
Failure to thrive, Type II diabetes mellitus, Decreased serum testosterone concentration, Cryptor... |
ORPHA:163976 |
Leptin Deficiency Or Dysfunction |
|
Micropenis, Primary amenorrhea, Decreased serum leptin, Decreased testicular size, Hypogonadism, ... |
OMIM:614962 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... |
OMIM:308700 |
Megalencephaly |
|
Macroorchidism, Truncal obesity, Long penis |
ORPHA:2477 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormality of the thyroid gland, Type II diabetes mellitus, Hypoplasia of penis, Eunuchoid habit... |
ORPHA:2234 |
46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... |
OMIM:400045 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B... |
OMIM:278850 |
Hypogonadism-Cataract Syndrome |
|
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... |
OMIM:240950 |
Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Micropenis, Agyria, Lissencephaly, Postnatal growth retardation, Pachygyria |
OMIM:300067 |
49,Xyyyy Syndrome |
|
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... |
ORPHA:99330 |
Frasier Syndrome |
|
Gonadal dysgenesis with female appearance, male, Ambiguous genitalia, male, Streak ovary, Hypergo... |
ORPHA:347 |
Satoyoshi Syndrome |
|
Amenorrhea, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Sh... |
ORPHA:3130 |
17Q11.2 Microduplication Syndrome |
|
Short stature, Macroorchidism |
ORPHA:139474 |
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Short stature |
OMIM:253320 |
Bardet-Biedl Syndrome 4 |
|
Obesity, Cryptorchidism, External genital hypoplasia, Hypogonadism |
OMIM:615982 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Bardet-Biedl Syndrome 16 |
|
Obesity, External genital hypoplasia, Hypogonadism |
OMIM:615993 |
Bardet-Biedl Syndrome |
|
Hypoplasia of the ovary, Hypoplasia of penis, Short stature, Hypogonadism, Obesity, Cryptorchidism |
ORPHA:110 |
46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism |
ORPHA:242 |
Limb-Mammary Syndrome |
|
Absent nipple, Bilateral breast hypoplasia, Primary amenorrhea, Hypoplastic nipples, Breast aplas... |
ORPHA:69085 |
Bardet-Biedl Syndrome 19 |
|
Obesity, External genital hypoplasia, Hypogonadism |
OMIM:615996 |
Leukodystrophy, Hypomyelinating, 21 |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Failure to thrive, Growth delay |
OMIM:619310 |
Mental Retardation Syndrome, Belgian Type |
|
Hypergonadotropic hypogonadism, Eunuchoid habitus, Diabetes mellitus |
OMIM:249599 |
47,Xyy Syndrome |
|
Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varico... |
ORPHA:8 |
Non-Functioning Pituitary Adenoma |
|
Impotence, Decreased fertility in males, Central adrenal insufficiency, Erectile dysfunction, Hyp... |
ORPHA:91349 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Short stature, Hypergonadotropic hypogonadism, Secon... |
ORPHA:3085 |
48,Xyyy Syndrome |
|
Azoospermia, Male hypogonadism, Primary gonadal insufficiency |
ORPHA:99329 |
Biemond Syndrome Type 2 |
|
Short stature, Hypogonadotropic hypogonadism, Hypospadias, Delayed puberty, Hypogonadism, Obesity |
ORPHA:141333 |
Maternal Uniparental Disomy Of Chromosome X |
|
Primary gonadal insufficiency, Azoospermia, Ambiguous genitalia, Gonadal tissue inappropriate for... |
ORPHA:261519 |
Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Absent outer dynein arms, Azoospermia |
OMIM:618300 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Decreased ... |
ORPHA:280679 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Short stature, Truncal obesity... |
ORPHA:181393 |
Xp22.13P22.2 Duplication Syndrome |
|
Short stature, Truncal obesity, Umbilical hernia, Polycystic ovaries, Macroorchidism |
ORPHA:284180 |
Ring Chromosome 21 Syndrome |
|
Amenorrhea, Infertility, Azoospermia, Diabetes insipidus |
ORPHA:1445 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity, Reduced circulating prolactin concentration, Macroorchidism |
OMIM:264120 |
Moynahan Syndrome |
|
Cachexia, Short stature, Hypogonadism |
ORPHA:2574 |
Martsolf Syndrome 2 |
|
Hypogonadotropic hypogonadism, Decreased body weight, Short stature |
OMIM:619420 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal dysgenesis with female appear... |
ORPHA:206484 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:289548 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Growth delay, Short stature, Hypogonadism |
ORPHA:2528 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism |
OMIM:616030 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:168558 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... |
OMIM:235200 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Obesity, Short stature, Macroorchidism |
ORPHA:3077 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Hypogonadism |
OMIM:254000 |
X-Linked Intellectual Disability, Shashi Type |
|
Obesity, Macroorchidism |
ORPHA:85286 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... |
ORPHA:90791 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
48,Xxyy Syndrome |
|
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Hypergonadotropic hypogonadism, Decr... |
ORPHA:10 |
Polyembryoma |
|
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... |
ORPHA:180229 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism |
OMIM:300886 |
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Infertility, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Abnormality of the urethr... |
ORPHA:752 |
Atkin-Flaitz Syndrome |
|
Obesity, Short stature, Macroorchidism |
OMIM:300431 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Small for gestational age, Hypospadias, Dec... |
ORPHA:1916 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... |
OMIM:610628 |
X-Linked Intellectual Disability, Cilliers Type |
|
Failure to thrive, Decreased serum testosterone concentration, Cryptorchidism, Short stature, Hyp... |
ORPHA:163971 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Obesity, Male hypogonadism, Macroorchidism |
OMIM:300055 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... |
ORPHA:90793 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Azoospermia, Decreased response to growth hormone stimulation tes... |
OMIM:300845 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Obesity, Cryptorchidism, External genital hypoplasia, Hypogonadism |
ORPHA:363741 |
Clark-Baraitser syndrome |
|
Obesity, Macroorchidism |
OMIM:300602 |
Polycystic Ovary Syndrome 1 |
|
Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries |
OMIM:184700 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Eunuchoid habitus, Leydig cell insensitivity to gonadotropin, Micropenis, Hyp... |
OMIM:308750 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
Complete Androgen Insensitivity Syndrome |
|
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... |
ORPHA:99429 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Short stature, Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of secondary sex chara... |
ORPHA:2410 |
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance |
|
Decreased body weight, External genital hypoplasia, Short stature, Postnatal growth retardation, ... |
OMIM:612947 |
Fragile X Syndrome |
|
Periventricular heterotopia, Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Adrenal insufficiency, Central adrenal insufficiency, Delayed puberty, Hypogonadism |
OMIM:612079 |
Deafness, Conductive, With Malformed External Ear |
|
Hypogonadism |
OMIM:221300 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... |
ORPHA:90796 |
Retinopathy, Pigmentary, And Mental Retardation |
|
Moderately short stature, Truncal obesity, Hypogonadism |
OMIM:268050 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Increased serum testosterone level, Hypoplasia of the uterus, Short s... |
ORPHA:247768 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty |
ORPHA:2229 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Intrauterine growth retardation, Hypogonadism |
OMIM:608540 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... |
ORPHA:1772 |
Bardet-Biedl Syndrome 7 |
|
Obesity, Hypogonadism |
OMIM:615984 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Obesity, External genital hypoplasia, Hypogonadism |
OMIM:615981 |
Lessel-Kubisch Syndrome |
|
Short stature, Hypogonadism |
OMIM:618681 |
Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity, Hypogonadism |
OMIM:617119 |
Ovarian Fibrothecoma |
|
Increased serum testosterone level, Abnormal endometrium morphology, Metrorrhagia, Abnormal circu... |
ORPHA:314478 |
Aromatase Deficiency |
|
Hypergonadotropic hypogonadism, Primary amenorrhea, Ovarian cyst, Female pseudohermaphroditism |
OMIM:613546 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Obesity, Cryptorchidism, Hypogonadism |
OMIM:601794 |
Cednik Syndrome |
|
Short stature, Pachygyria, Polymicrogyria, Hypogonadism |
ORPHA:66631 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Amenorrhea, Abnormality of the urethra, Oligomenorrhea, Menorrhagia, Polycystic ovaries, Abnormal... |
ORPHA:2795 |
Cofs Syndrome |
|
Short stature, Intrauterine growth retardation, Hypogonadism |
ORPHA:1466 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Obesity, External genital hypoplasia, Short stature |
ORPHA:177910 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypoplasia of penis, Hypogonadism, Obesity, Abnormal... |
ORPHA:791 |
Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... |
ORPHA:199310 |
Bardet-Biedl Syndrome 8 |
|
Hypospadias, Obesity, Hypogonadism |
OMIM:615985 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Hypogonadism |
OMIM:615768 |
Crandall Syndrome |
|
Hypoplasia of penis, Abnormal testis morphology, Hypogonadism |
ORPHA:202 |
Plin1-Related Familial Partial Lipodystrophy |
|
Infertility, Hyperinsulinemia, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Ab... |
ORPHA:280356 |
Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea, Short stature |
OMIM:614129 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Primary adrenal insufficiency, Hypogonadism |
OMIM:617872 |
Familial Glucocorticoid Deficiency |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... |
ORPHA:361 |
Post-Traumatic Pituitary Deficiency |
|
Amenorrhea, Infertility, Growth delay, Abnormal prolactin level, Decreased response to growth hor... |
ORPHA:95619 |
2P21 Microdeletion Syndrome |
|
Failure to thrive, Growth delay, Hypogonadism |
ORPHA:163693 |
Temple Syndrome |
|
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... |
ORPHA:254516 |
Fragile X Syndrome |
|
Macroorchidism |
ORPHA:908 |
48,Xxxy Syndrome |
|
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Decreased testicular size, Hypogonad... |
ORPHA:96263 |
Syndromic Recessive X-Linked Ichthyosis |
|
Short stature, Testicular seminoma, Lissencephaly, Hypogonadism, Cryptorchidism |
ORPHA:281090 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Hypogonadism |
ORPHA:3216 |
Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Short stature, Abnormality of the parathy... |
ORPHA:1227 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Supernumerary nipple, Short stature, Hypogonadotropic hypogonadism, Abnormality of the hypothalam... |
ORPHA:1173 |
Hepatic Adenomas, Familial |
|
Polycystic ovaries, Maturity-onset diabetes of the young |
OMIM:142330 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Failure to thrive, Short stature, Hypospadias, Polymicrogyria, Macroorchidism |
OMIM:618874 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Male hypogonadism |
OMIM:307500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Abdominal obesity, Micropenis, Short stature, Hypospadias, Polymicrogyria, Decreased testicular s... |
OMIM:300354 |
Lujan-Fryns Syndrome |
|
Macroorchidism |
ORPHA:776 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Fanconi Anemia, Complementation Group A |
|
Short stature, Hypergonadotropic hypogonadism, Small for gestational age, Male infertility, Prolo... |
OMIM:227650 |
Preeclampsia |
|
Small for gestational age, Increased body mass index, Type I diabetes mellitus, Polycystic ovarie... |
ORPHA:275555 |
Woodhouse-Sakati Syndrome |
|
Growth delay, Hypoplasia of the uterus, Hyperinsulinemia, Decreased response to growth hormone st... |
ORPHA:3464 |
Filippi Syndrome |
|
Decreased body weight, Ambiguous genitalia, Postnatal growth retardation, Cryptorchidism, Intraut... |
OMIM:272440 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
Cornelia De Lange Syndrome 5 |
|
Micropenis, Short stature, Truncal obesity, Decreased testicular size, Hypogonadism, Postnatal gr... |
OMIM:300882 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Severe intrauterine growth retardation, Small for gestational age, Short statu... |
ORPHA:73272 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Failure to thrive, Female infertility, Short stature, Mitochondrial hypertrophy, Premature ovaria... |
OMIM:619518 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Short stature, Hypergonadotropic hypogonadism, Secondary amenorrhea, Insulin-resistant diabetes m... |
OMIM:268020 |
49,Xxxxy Syndrome |
|
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Arrhinencephaly, Decreased testicula... |
ORPHA:96264 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Reduced circulating prolactin concentration, Short stature, Panhypopituita... |
OMIM:262600 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Dysmenorrhea, Bifid scrotum, Small for gestational age, Hypospadias, Hypothyroidism, Small placen... |
ORPHA:397590 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Small pituitary gland, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism |
OMIM:612702 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, Ma... |
ORPHA:90790 |
X-Linked Intellectual Disability, Miles-Carpenter Type |
|
Hypogonadism |
ORPHA:85283 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism |
OMIM:612370 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadi... |
ORPHA:300298 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Delayed puberty, Hypogonadism |
OMIM:615270 |
Rudiger Syndrome |
|
Ovarian cyst, Bicornuate uterus, Micropenis |
OMIM:268650 |
Ataxia-Telangiectasia |
|
Failure to thrive, Type II diabetes mellitus, Short stature, Delayed puberty, Diabetes mellitus, ... |
ORPHA:100 |
Leydig Cell Hypoplasia, Type I |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level |
OMIM:238320 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Obesity, Postnatal growth retardation, Precocious puberty, Intrauterine growth retardation |
ORPHA:254525 |
Xeroderma Pigmentosum, Complementation Group G |
|
Defective DNA repair after ultraviolet radiation damage, Small for gestational age |
OMIM:278780 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Elevated circulating growth hormone concentration, Decreased serum insulin-like growth factor 1, ... |
ORPHA:85327 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Decreased response to growth hormone stimulation test, Micropenis, Hypospadias, Adrenal hypoplasi... |
OMIM:614732 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Hypogonadism |
OMIM:251240 |
Fanconi Anemia, Complementation Group E |
|
Short stature, Hypergonadotropic hypogonadism, Small for gestational age, Prolonged G2 phase of c... |
OMIM:600901 |
Distal Monosomy 10P |
|
Hypoplasia of penis, Short stature, Polycystic ovaries, Cryptorchidism, Intrauterine growth retar... |
ORPHA:1580 |
Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Short stature, Truncal obesity, Decreased testicular size, Hypogonadism, Cry... |
ORPHA:127 |
Classic Galactosemia |
|
Oligomenorrhea, Primary amenorrhea, Decreased fertility in females, Secondary amenorrhea, Male in... |
ORPHA:79239 |
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome |
|
Hypergonadotropic hypogonadism |
ORPHA:88637 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Postnatal growth retardation, Small for gestational age, Maturity-onset diabe... |
ORPHA:96184 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad... |
OMIM:614963 |
8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axi... |
ORPHA:251066 |
Ovarian Fibroma |
|
Ovarian fibroma, Gonadal calcification, Abnormality of the ovary |
ORPHA:314473 |
Carney Complex |
|
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... |
ORPHA:1359 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Increased circu... |
OMIM:110100 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Absence of pubertal development, Hypogonadism |
OMIM:615267 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Hypogonadism |
OMIM:160900 |
Sim1-Related Prader-Willi-Like Syndrome |
|
External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, Small scrotum... |
ORPHA:398079 |
Urban-Rogers-Meyer Syndrome |
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Hypoplasia of penis, Short stature, Hypogonadism, Obesity, Cryptorchidism |
ORPHA:3409 |
3-Methylglutaconic Aciduria, Type V |
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Hypospadias, Decreased testicular size, Postnatal growth retardation, Cryptorchidism, Intrauterin... |
OMIM:610198 |
X-Linked Intellectual Disability, Seemanova Type |
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Cryptorchidism, Small for gestational age, Hypogonadism |
ORPHA:85323 |
Fanconi Anemia, Complementation Group C |
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Short stature, Hypergonadotropic hypogonadism, Small for gestational age, Prolonged G2 phase of c... |
OMIM:227645 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Decreased testicular size, Micropenis |
OMIM:614838 |
Pituicytoma |
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Amenorrhea, Abnormality of the pituitary gland, Impotence, Decreased serum testosterone concentra... |
ORPHA:251623 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
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Short stature, Hypogonadism |
OMIM:302950 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
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Testicular atrophy |
OMIM:601163 |
Ciliary Dyskinesia, Primary, 18 |
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Male infertility, Absent outer dynein arms, Immotile sperm |
OMIM:614874 |
Burkitt Lymphoma |
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Abnormality of the ovary |
ORPHA:543 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
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Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyperthyroidism, Abnorma... |
ORPHA:457059 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
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Precocious puberty, Postnatal growth retardation, Maturity-onset diabetes of the young, Obesity, ... |
ORPHA:254531 |
Polyendocrine-Polyneuropathy Syndrome |
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Type II diabetes mellitus, Hypoinsulinemia, Decreased serum testosterone concentration, Hypogonad... |
ORPHA:453533 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
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Micropenis, Short stature, Hypogonadotropic hypogonadism, Primary amenorrhea, Delayed puberty, Cr... |
OMIM:147950 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
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Ambiguous genitalia, female, Decreased circulating cortisol level, Premature thelarche, Long peni... |
ORPHA:90795 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... |
ORPHA:90674 |
Inverted Duplicated Chromosome 15 Syndrome |
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Precocious puberty, Gonadal dysgenesis, Hypogonadism, Growth delay, Cryptorchidism |
ORPHA:3306 |
Schaaf-Yang Syndrome |
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Micropenis, Short stature, Hypogonadism, Obesity, Cryptorchidism, Failure to thrive in infancy |
OMIM:615547 |
Hemochromatosis Type 2 |
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Abnormality of endocrine pancreas physiology, Impotence, Diabetes mellitus, Hypogonadism |
ORPHA:79230 |
Hemochromatosis, Type 2B |
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Secondary amenorrhea, Hypogonadism |
OMIM:613313 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
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Cryptorchidism, Hypogonadism, Encephalocele, Intrauterine growth retardation, Small scrotum |
ORPHA:228390 |
Aarskog-Scott Syndrome |
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Failure to thrive, Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism... |
OMIM:305400 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
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Male infertility |
OMIM:618948 |
Symptomatic Form Of Hemochromatosis Type 1 |
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Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... |
ORPHA:465508 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis |
OMIM:244200 |
Björnstad Syndrome |
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Hypogonadism |
ORPHA:123 |
Pmm2-Cdg |
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Failure to thrive, Elevated circulating growth hormone concentration, Hyperinsulinemia, Hypogonad... |
ORPHA:79318 |
Riboflavin Transporter Deficiency |
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Cachexia, Diabetes insipidus, Hypogonadism |
ORPHA:97229 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
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Polycystic ovaries, Diabetes mellitus |
OMIM:608709 |
Silver-Russell Syndrome |
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Abnormal vagina morphology, Precocious puberty, Postnatal growth retardation, Short stature, Abno... |
ORPHA:813 |
Donohue Syndrome |
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Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Ovarian cyst, Long penis, Clitora... |
OMIM:246200 |
Kallmann Syndrome |
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Dyspareunia, Hypoplasia of penis, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, ... |
ORPHA:478 |
Ring Chromosome 22 Syndrome |
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Azoospermia |
ORPHA:1446 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
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Micropenis, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone con... |
OMIM:619761 |
Congenital Generalized Lipodystrophy |
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Amenorrhea, Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Oligomenorrhea, C... |
ORPHA:528 |
Prolactinoma |
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Impotence, Dyspareunia, Decreased fertility in males, Central adrenal insufficiency, Erectile dys... |
ORPHA:2965 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Perisylvian polymicrogyria, External genital hypoplasia, Central adrenal insufficiency, Primary a... |
ORPHA:98754 |
Camurati-Engelmann Disease, Type 2 |
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Delayed puberty, Hypogonadism |
OMIM:606631 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Female infertility, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Eleva... |
ORPHA:572333 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
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Macroorchidism |
ORPHA:324410 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
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Growth delay, Testicular atrophy |
OMIM:613987 |
Ciliary Dyskinesia, Primary, 9 |
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Male infertility, Absent outer dynein arms |
OMIM:612444 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Perisylvian polymicrogyria, External genital hypoplasia, Central adrenal insufficiency, Primary a... |
ORPHA:98793 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Abdominal obesity, Hypoplasia of the ovary, Micropenis, Short stature, Decreased testicular size,... |
OMIM:619321 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:614839 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
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Growth delay, Cervical spina bifida, Male pseudohermaphroditism, Postnatal growth retardation, Ob... |
OMIM:600122 |
Xeroderma Pigmentosum, Autosomal Dominant, Mild |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:194400 |
Culler-Jones Syndrome |
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Micropenis, Short stature, Hypopituitarism, Ectopic posterior pituitary, Hypogonadism, Cryptorchi... |
OMIM:615849 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Perisylvian polymicrogyria, External genital hypoplasia, Central adrenal insufficiency, Primary a... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Perisylvian polymicrogyria, External genital hypoplasia, Central adrenal insufficiency, Primary a... |
ORPHA:177901 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
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Cryptorchidism, Oligospermia |
OMIM:314300 |
H Syndrome |
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Amenorrhea, Micropenis, Decreased testicular size, Diabetes mellitus, Delayed puberty, Azoospermi... |
ORPHA:168569 |
Maternal Uniparental Disomy Of Chromosome 2 |
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Chordee, Decreased response to growth hormone stimulation test, Hypospadias, Hypothyroidism, Post... |
ORPHA:96179 |
Prader-Willi Syndrome |
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Perisylvian polymicrogyria, External genital hypoplasia, Central adrenal insufficiency, Primary a... |
ORPHA:739 |
Bloom Syndrome |
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Type II diabetes mellitus, Small for gestational age, Decreased fertility in females, Azoospermia... |
OMIM:210900 |
Familial Partial Lipodystrophy, Köbberling Type |
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Polycystic ovaries, Hyperinsulinemia, Diabetes mellitus |
ORPHA:79084 |
Wolfram Syndrome 1 |
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Testicular atrophy, Hypothyroidism, Diabetes mellitus, Growth delay, Diabetes insipidus |
OMIM:222300 |
Ciliary Dyskinesia, Primary, 14 |
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Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... |
OMIM:613807 |
Deafness-Hypogonadism Syndrome |
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Hypergonadotropic hypogonadism, Abnormal spermatogenesis, Delayed puberty |
ORPHA:90646 |
Delayed Puberty, Self-Limited |
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Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:619613 |
Autoimmune Polyendocrinopathy Type 2 |
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Hypoparathyroidism, Abnormality of the thyroid gland, Graves disease, Primary adrenal insufficien... |
ORPHA:3143 |
Magel2-Related Prader-Willi-Like Syndrome |
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External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, Increased bod... |
ORPHA:398069 |
Bardet-Biedl Syndrome 1 |
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Abdominal obesity, Nephrogenic diabetes insipidus, Micropenis, Truncal obesity, Decreased testicu... |
OMIM:209900 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Failure to thrive, Decreased serum testosterone concentration, Short stature, Decreased testicula... |
OMIM:201100 |
Pituitary Dermoid And Epidermoid Cysts |
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Amenorrhea, Enlarged pituitary gland, Panhypopituitarism, Oligomenorrhea, Oligospermia, Anterior ... |
ORPHA:91351 |
Fanconi Anemia, Complementation Group D2 |
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Annular pancreas, Small for gestational age, Hypergonadotropic hypogonadism, Micropenis, Short st... |
OMIM:227646 |
X-Linked Intellectual Disability, Snyder Type |
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Testicular atrophy, Short stature, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism |
ORPHA:3063 |
Senior-Loken Syndrome 9 |
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Obesity, Hypogonadism |
OMIM:616629 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Pre... |
OMIM:157640 |
Lipodystrophy, Familial Partial, Type 3 |
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Hyperinsulinemia, Type II diabetes mellitus, Oligomenorrhea, Primary amenorrhea, Maternal diabete... |
OMIM:604367 |
Luscan-Lumish Syndrome |
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Polycystic ovaries, Obesity, Irregular menstruation, Short stature |
OMIM:616831 |
Nephrotic Syndrome, Type 14 |
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Adrenal insufficiency, Micropenis, Hypothyroidism, Hypogonadism, Cryptorchidism |
OMIM:617575 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Urogenital sinus anomaly, Chordee, Gray matter heterotopia, Streak ovary, Micropenis, Uterus dide... |
OMIM:618820 |
Pseudohypoparathyroidism, Type Ic |
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Short stature, Elevated circulating parathyroid hormone level, Hypothyroidism, Hypogonadism, Obes... |
OMIM:612462 |
Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Spina bifida occulta, Hypoplasia of penis, Small scrotum, Hypogonadism |
ORPHA:2983 |
Trisomy 20P |
|
Hypospadias, Umbilical hernia, Cryptorchidism, Spina bifida, Macroorchidism |
ORPHA:261318 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Elevated calcitonin, Disproportionate short-limb short stature, Decreased growth hormone response... |
OMIM:101800 |
Acrodysostosis |
|
Short stature, Irregular menstruation, Abnormality of female external genitalia, Hypogonadism, Cr... |
ORPHA:950 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Primary amenorrhea, Obesity |
OMIM:600955 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Cryptorchidism, Diabetes mellitus, Hypogonadism |
OMIM:615381 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macroorchidism |
OMIM:309520 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Male infertility, Hypogonadism, Weight loss, Abnormal testis morphology, Primary te... |
ORPHA:85450 |
Akt2-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... |
ORPHA:79085 |
Mirage Syndrome |
|
Adrenal insufficiency, Decreased body weight, Short stature, Hypergonadotropic hypogonadism, Hypo... |
OMIM:617053 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
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Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis |
ORPHA:2239 |
Xeroderma Pigmentosum, Complementation Group F |
|
Defective DNA repair after ultraviolet radiation damage, Deficient excision of UV-induced pyrimid... |
OMIM:278760 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|