Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... |
OMIM:611548 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... |
OMIM:300510 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... |
OMIM:617565 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Ring Chromosome Y Syndrome |
|
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... |
ORPHA:261529 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
Orbital Margin, Hypoplasia Of |
|
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly |
OMIM:165600 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Invasive Mole |
|
Menometrorrhagia |
ORPHA:99925 |
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 |
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 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
Short Tarsus With Absence Of Lower Eyelashes |
|
Absent lower eyelashes, Hypoplasia of the lower eyelids |
OMIM:600269 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... |
OMIM:615300 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ... |
OMIM:167730 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... |
ORPHA:243 |
Faundes-Banka Syndrome |
|
Epicanthus, Premature thelarche, Cryptorchidism, Hypoplasia of the lower eyelids, Delayed puberty... |
OMIM:619376 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... |
OMIM:194072 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... |
ORPHA:347 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea |
OMIM:184700 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... |
OMIM:619938 |
Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... |
ORPHA:3130 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased serum estradiol, Streak ovary, Premature ovarian insufficiency, Duplicated lacrimal pun... |
ORPHA:572333 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hypoplasia of eyelid, Abdominal obesity, Hypoplasia of the ovary, Micropenis, Decreased testicula... |
OMIM:619321 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Ablepharon, Hypoplasia of eyelid, Absent eyelashes, Hypoplastic labia majora, Hyp... |
OMIM:200110 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Eyelid coloboma, Orbital cyst |
OMIM:164180 |
Treacher Collins Syndrome 4 |
|
Downslanted palpebral fissures, Lower eyelid coloboma |
OMIM:618939 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... |
ORPHA:432 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries |
ORPHA:1643 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Bartsocas-Papas Syndrome |
|
Ankyloblepharon, Popliteal pterygium, Sparse or absent eyelashes, Eyelid coloboma, Hypoplastic ma... |
ORPHA:1234 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Ptosis, Telecanthus, Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, ... |
OMIM:110100 |
Teebi Hypertelorism Syndrome 2 |
|
Hypospadias, Upper eyelid coloboma, Thick eyebrow, Ptosis |
OMIM:619736 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
Barber-Say Syndrome |
|
Ablepharon, Telecanthus, Sparse or absent eyelashes, Breast aplasia, Hypoplastic nipples, Shawl s... |
ORPHA:1231 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... |
ORPHA:314478 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Epicanthus, Telecanthus, Hypospadias, Blepharophimosis, Epispadias, Ey... |
ORPHA:3339 |
Acrofrontofacionasal Dysostosis |
|
Bifid scrotum, Hypospadias, Eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia o... |
ORPHA:1784 |
Postaxial Acrofacial Dysostosis |
|
Eyelid coloboma, Ectropion of lower eyelids, Downslanted palpebral fissures, Supernumerary nipple |
ORPHA:246 |
Müllerian Aplasia And Hyperandrogenism |
|
Synophrys, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone le... |
ORPHA:247768 |
Frontonasal Dysplasia 3 |
|
Absent eyebrow, Sparse eyelashes, Upper eyelid coloboma |
OMIM:613456 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Frontofacionasal Dysplasia |
|
Telecanthus, Blepharophimosis, Upper eyelid coloboma, Limbal dermoid, Absent inner eyelashes, Apl... |
ORPHA:1791 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
Manitoba Oculotrichoanal Syndrome |
|
Eyelid coloboma, Vaginal atresia, Nasolacrimal duct obstruction, Cryptophthalmos |
OMIM:248450 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Treacher Collins Syndrome 3 |
|
Downslanted palpebral fissures, Lower eyelid coloboma |
OMIM:248390 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Cryptophthalmos, Ankyloblepharon |
OMIM:123570 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
Oculoauriculofrontonasal Syndrome |
|
Limbal dermoid, Upper eyelid coloboma |
ORPHA:398156 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Ovarian Fibroma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
Acrofacial Dysostosis, Cincinnati Type |
|
Ablepharon, Lower eyelid coloboma, Upper eyelid coloboma, Decreased body weight, Downslanted palp... |
OMIM:616462 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... |
ORPHA:2232 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Eyelid coloboma, Downslanted palpebral fissures, Ptosis |
OMIM:268850 |
Bardet-Biedl Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hypoplasia of the ovary, Hypogonadism |
ORPHA:110 |
Burn-Mckeown Syndrome |
|
Blepharophimosis, Lower eyelid coloboma, Short palpebral fissure |
OMIM:608572 |
Anophthalmia Plus Syndrome |
|
Blepharophimosis, Eyelid coloboma |
ORPHA:1104 |
Jacobsen Syndrome |
|
Epicanthus, Telecanthus, Hypospadias, Abnormal eyelash morphology, Cryptorchidism, Nasolacrimal d... |
OMIM:147791 |
Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Ablepharon, Ambiguous genitalia, Cicatricial lagophthalmos, Bilateral cryptorchid... |
OMIM:263650 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Eyelid coloboma, Telecanthus |
OMIM:607597 |
Momo Syndrome |
|
Epicanthus, Eyelid coloboma, Downslanted palpebral fissures, Obesity |
OMIM:157980 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
Momo Syndrome |
|
Epicanthus, Large for gestational age, Abnormality of the thyroid gland, Obesity, Eyelid coloboma... |
ORPHA:2563 |
Nager Syndrome |
|
Sparse lower eyelashes, Lower eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia... |
ORPHA:245 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Eyelid coloboma, Ptosis |
ORPHA:1647 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Postaxial Acrofacial Dysostosis |
|
Supernumerary nipple, Cryptorchidism, Eyelid coloboma, Micropenis, Downslanted palpebral fissures... |
OMIM:263750 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... |
ORPHA:90796 |
Oculotrichoanal Syndrome |
|
Cryptophthalmos, Upper eyelid coloboma, Nasolacrimal duct obstruction |
ORPHA:2717 |
Mandibulofacial Dysostosis With Alopecia |
|
Sparse eyelashes, Lower eyelid coloboma |
OMIM:616367 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Bifid scrotum, Abnormal penis morphology, Hypospadias, Epispadias, Eyelid coloboma, Shawl scrotum... |
ORPHA:2211 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor... |
ORPHA:90301 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Absent eyelashes, Cryptorchidism, Blepharospasm, Eyelid colob... |
ORPHA:861 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Decrea... |
ORPHA:3464 |
Encephalocraniocutaneous Lipomatosis |
|
Limbal dermoid, Cryptorchidism, Eyelid coloboma |
OMIM:613001 |
Diamond-Blackfan Anemia 11 |
|
Eyelid coloboma |
OMIM:614900 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Telecanthus, Eyelid coloboma, Bicornuate uterus, Labial hypoplasia, Clitoral hypertrophy |
ORPHA:140952 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Hypospadias, Precocious puberty, Long eyelashes, Cryptophthalmos |
OMIM:615877 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Lacrimal duct stenosis, Cryptorchidism, Upper eyelid coloboma, Lower eyel... |
OMIM:154500 |
Helsmoortel-Van Der Aa Syndrome |
|
Epicanthus, Decreased response to growth hormone stimulation test, Cryptorchidism, Bilateral ptos... |
OMIM:615873 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... |
OMIM:615363 |
Frontofacionasal Dysplasia |
|
Telecanthus, Ankyloblepharon, Eyelid coloboma, S-shaped palpebral fissures, Blepharophimosis, Abs... |
OMIM:229400 |
Fraser Syndrome 3 |
|
Hypoplasia of penis, Stillbirth, Small scrotum, Cryptophthalmos |
OMIM:617667 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Ablepharon, Hypoplasia of penis, Absent eyelashes, Breast hypoplasia, Ambiguous g... |
ORPHA:920 |
Proboscis Lateralis |
|
Abnormal eyebrow morphology, Epicanthus, Abnormal nasolacrimal system morphology, Abnormal locati... |
ORPHA:141099 |
Gorlin-Chaudhry-Moss Syndrome |
|
Upper eyelid coloboma, Abnormal eyelid morphology |
ORPHA:2095 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Failure to thrive, Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Scalp-Ear-Nipple Syndrome |
|
Telecanthus, Palpebral edema, Eyelid coloboma, Breast aplasia, Type I diabetes mellitus |
ORPHA:2036 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Clitoral hypertrophy, Premature thelarc... |
ORPHA:90795 |
Sweeney-Cox Syndrome |
|
Bilateral cryptorchidism, Upper eyelid coloboma |
OMIM:617746 |
Branchioskeletogenital Syndrome |
|
Telecanthus, Absent nipple, Highly arched eyebrow, Absent external genitalia, Synophrys, Blepharo... |
ORPHA:1299 |
Fraser Syndrome 1 |
|
Absent eyebrow, Hypospadias, Absent eyelashes, Cryptorchidism, Upper eyelid coloboma, Lacrimal du... |
OMIM:219000 |
Jacobsen Syndrome |
|
Epicanthus, Ectropion, Cryptorchidism, Eyelid coloboma, Annular pancreas, Downslanted palpebral f... |
ORPHA:2308 |
Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Oculoectodermal Syndrome |
|
Epicanthus, Supernumerary nipple, Pineal cyst, Eyelid coloboma, Limbal dermoid |
OMIM:600268 |
Akt2-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... |
ORPHA:79085 |
Charge Syndrome |
|
Bifid scrotum, Epicanthus, Hypogonadotropic hypogonadism, Highly arched eyebrow, Cryptorchidism, ... |
ORPHA:138 |
Neu-Laxova Syndrome 2 |
|
Ablepharon |
OMIM:616038 |
Leopard Syndrome 1 |
|
Hypospadias, Cryptorchidism, Micropenis, Hypoplasia of the ovary, Aplasia of the ovary, Delayed m... |
OMIM:151100 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Uterine leiomyoma, Thyroid adenoma |
OMIM:617100 |
Scalp-Ear-Nipple Syndrome |
|
Epicanthus, Telecanthus, Palpebral edema, Lower eyelid coloboma, Narrow palpebral fissure, Breast... |
OMIM:181270 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Epicanthus, Sparse eyelashes, Sparse eyebrow, Eyelid coloboma, Ptosis |
ORPHA:306542 |
Fraser Syndrome 2 |
|
Ambiguous genitalia, Hypoplasia of the thymus, Cryptophthalmos |
OMIM:617666 |
Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Lacrimal duct aplasia, Malformed... |
ORPHA:2052 |
Acrofacial Dysostosis 1, Nager Type |
|
Sparse lower eyelashes, Lower eyelid coloboma, Absent lower eyelashes, Bicornuate uterus, Downsla... |
OMIM:154400 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Neu-Laxova Syndrome 1 |
|
Ablepharon, Bifid uterus, Absent eyelashes, Cryptorchidism, Stillbirth, Neonatal death, Pterygium |
OMIM:256520 |
Treacher Collins Syndrome 2 |
|
Downslanted palpebral fissures, Lower eyelid coloboma |
OMIM:613717 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Eyelid coloboma, Micropenis, Hypothyroidism, Ptosis |
ORPHA:51 |
Mycophenolate Mofetil Embryopathy |
|
Eyelid coloboma |
ORPHA:268249 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Chordee, Urogeni... |
OMIM:618820 |
Isolated Arrhinia |
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Eyelid coloboma |
ORPHA:1134 |
Constricting Bands, Congenital |
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Eyelid coloboma |
OMIM:217100 |
Primary Ciliary Dyskinesia |
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Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Bardet-Biedl Syndrome 1 |
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Diabetes mellitus, Nephrogenic diabetes insipidus, Obesity, Abnormality of the ovary, Truncal obe... |
OMIM:209900 |
Roberts-Sc Phocomelia Syndrome |
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Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Eyelid coloboma, Stillbirth, Bico... |
OMIM:268300 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Epicanthus, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Hi... |
ORPHA:99413 |
Turner Syndrome |
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Epicanthus, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Hi... |
ORPHA:881 |
Mosaic Monosomy X |
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Epicanthus, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Hi... |
ORPHA:99228 |
Monosomy X |
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Epicanthus, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Hi... |
ORPHA:99226 |
Alg9-Cdg |
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Hypoplasia of the ovary, Hypoplastic nipples, Bicornuate uterus |
ORPHA:79328 |
Carney Complex |
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Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abn... |
ORPHA:1359 |
Schinzel-Giedion Syndrome |
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Streak ovary, Hypospadias, Annular pancreas, Central hypothyroidism, Micropenis |
ORPHA:798 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... |
OMIM:201750 |
Craniofacial Microsomia 1 |
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Limbal dermoid, Blepharophimosis, Upper eyelid coloboma, Ptosis |
OMIM:164210 |