Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis, Dysmenorrhea, Decreased fertility |
OMIM:131200 |
Ovarian Dysgenesis 7 |
|
Delayed puberty, Primary amenorrhea, Hypoplasia of the uterus |
OMIM:618117 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency |
OMIM:619245 |
Spermatogenic Failure 3 |
|
Infertility |
OMIM:606766 |
Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
Oocyte Maturation Defect 1 |
|
Infertility |
OMIM:615774 |
Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
Oocyte Maturation Defect 4 |
|
Infertility |
OMIM:617743 |
Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o... |
OMIM:300510 |
Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:300511 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Venous malformation, Intestinal bleeding |
OMIM:600195 |
Oocyte Maturation Defect 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I |
ORPHA:488191 |
Premature Ovarian Failure 2B |
|
Primary amenorrhea, Premature ovarian insufficiency, Delayed puberty |
OMIM:300604 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Absence of pubertal development, Micropenis, Primary amenorrhea, C... |
OMIM:614840 |
Invasive Mole |
|
Menometrorrhagia |
ORPHA:99925 |
Premature Ovarian Failure 1 |
|
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:311360 |
Ovarian Dysgenesis 5 |
|
Primary amenorrhea, Short stature, Hypoplasia of the uterus |
OMIM:617690 |
46,Xy Sex Reversal 11 |
|
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Decreas... |
OMIM:273250 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size |
OMIM:229070 |
Familial Hyperprolactinemia |
|
Menorrhagia, Infertility, Oligomenorrhea, Hemorrhagic ovarian cyst, Amenorrhea, Female hypogonadism |
ORPHA:397685 |
Premature Ovarian Failure 9 |
|
Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:615724 |
Gordon Holmes Syndrome |
|
Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea |
OMIM:212840 |
Adenomyosis |
|
Dysmenorrhea |
OMIM:600458 |
Ovarian Dysgenesis 9 |
|
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... |
OMIM:619665 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Gonadal dysgenesis, Primary amenorrhea, Hypergonadotropic hypogonadism |
OMIM:607080 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Infertility, Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decre... |
OMIM:146110 |
Hypersecretion Of Adrenal Androgens, Familial |
|
Increased circulating androgen concentration, Adrenal overactivity, Amenorrhea, Premature pubarche |
OMIM:145295 |
Premature Ovarian Failure 15 |
|
Oligomenorrhea |
OMIM:618096 |
Premature Ovarian Failure 13 |
|
Oligomenorrhea |
OMIM:617442 |
Perrault Syndrome 6 |
|
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... |
OMIM:617565 |
Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
Hyperprolactinemia |
|
Menorrhagia, Infertility, Oligomenorrhea, Increased circulating prolactin concentration |
OMIM:615555 |
Premature Ovarian Failure 18 |
|
Secondary amenorrhea, Decreased antimullerian hormone level, Elevated circulating follicle stimul... |
OMIM:619203 |
Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... |
OMIM:612964 |
Cortisone Reductase Deficiency 1 |
|
Infertility, Oligomenorrhea, Precocious puberty |
OMIM:604931 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... |
OMIM:604169 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Primary amenorrhea, Premature ovarian insufficiency, Increased circulating gona... |
OMIM:615723 |
Premature Ovarian Failure 5 |
|
Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria... |
OMIM:611548 |
Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Primary amenorrhea, Short stature, Hypergonadotropic hypogonadism |
OMIM:614129 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadism, Central hypothyroidism, Postnatal growth retardation, Short stature |
OMIM:616113 |
Leydig Cell Hypoplasia |
|
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... |
ORPHA:755 |
Ovarian Dysgenesis 4 |
|
Primary amenorrhea, Short stature |
OMIM:616185 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... |
OMIM:612310 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Pr... |
OMIM:614841 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Abnormality of the ovary, Decreased testicular size |
ORPHA:1875 |
Ovarian Dysgenesis 1 |
|
Gonadal dysgenesis, Primary amenorrhea, Increased circulating gonadotropin level |
OMIM:233300 |
46,Xy Sex Reversal 1 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level, Gonadoblastoma, Abnormalit... |
OMIM:400044 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
Xp22.3 Microdeletion Syndrome |
|
Secondary amenorrhea, Short stature, Hypogonadotropic hypogonadism, Polycystic ovaries, Decreased... |
ORPHA:1643 |
Amenorrhea-Galactorrhea Syndrome |
|
Pituitary adenoma, Secondary amenorrhea |
OMIM:104600 |
Complete Androgen Insensitivity Syndrome |
|
Increased antimullerian hormone level, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian... |
ORPHA:99429 |
Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Premature... |
OMIM:618723 |
Premature Ovarian Failure 17 |
|
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, D... |
OMIM:619146 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... |
ORPHA:983 |
Asherman Syndrome |
|
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... |
ORPHA:137686 |
Ovarian Fibrothecoma |
|
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Met... |
ORPHA:314478 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... |
ORPHA:168563 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... |
OMIM:614837 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea |
OMIM:184700 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Premature ovarian insufficiency |
ORPHA:75325 |
Xq27.3Q28 Duplication Syndrome |
|
Intrauterine growth retardation, Short stature, Hypogonadism, Premature ovarian insufficiency, Cr... |
ORPHA:261483 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... |
OMIM:228300 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Secondary amenorrhea, Goiter, Premature ovarian insufficiency |
OMIM:617175 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... |
OMIM:601493 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Hydrocolpos, Dysmenorrhea, Metrorrhagia, Uterus didelphys, Dyspareunia, Partial vaginal septum, A... |
ORPHA:3411 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism |
OMIM:613546 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size |
OMIM:616030 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Premature ovarian insufficiency, Severe short stature |
ORPHA:2278 |
Premature Ovarian Failure 10 |
|
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... |
OMIM:612885 |
Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... |
ORPHA:90797 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Menorrhagia, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Abnormalit... |
ORPHA:2795 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial fibrillation, Atrioventricular dissociation, Persistent left superior vena cava, Abnormal ... |
OMIM:614954 |
Estrogen Resistance |
|
Hyperinsulinemia, Primary amenorrhea, Hypoplasia of the uterus |
OMIM:615363 |
Hydatidiform Mole |
|
Hyperthyroidism, Spontaneous abortion, Menometrorrhagia, Enlarged uterus |
ORPHA:99927 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... |
ORPHA:90793 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Short stature, Secondary growth hormone deficiency, Absence of secondary sex characteristics, Inc... |
ORPHA:2410 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia/Hypoplasia of the fallopian tube, Aplasia of the uterus, Amenorrhea, Abnormality of the e... |
OMIM:158330 |
Ovarian Dysgenesis 3 |
|
Primary amenorrhea |
OMIM:614324 |
Von Willebrand Disease |
|
Venous insufficiency, Abnormal mitral valve morphology |
ORPHA:903 |
Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... |
OMIM:613424 |
46,Xy Complete Gonadal Dysgenesis |
|
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism |
ORPHA:242 |
Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... |
OMIM:615373 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Amenorrhea, Premature ovarian insufficiency |
OMIM:619425 |
Plin1-Related Familial Partial Lipodystrophy |
|
Infertility, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, ... |
ORPHA:280356 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... |
OMIM:612158 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Micropenis, Primary amenorrhea, Decreased serum leptin, Decreased testicular size |
OMIM:614962 |
Perrault Syndrome 4 |
|
Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Increased circulating gonadotropin... |
OMIM:615300 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi... |
OMIM:618841 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
Tricuspid Atresia |
|
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... |
ORPHA:1209 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Secondary amenorrhea, Short stature, Premature pubarche |
OMIM:612847 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
Satoyoshi Syndrome |
|
Abnormality of the ovary, Amenorrhea, Short stature, Hypoplasia of the ovary, Abnormality of the ... |
ORPHA:3130 |
46,Xx Gonadal Dysgenesis |
|
Secondary amenorrhea, Streak ovary, Aplasia/hypoplasia of the uterus, Short stature, Increased ci... |
ORPHA:243 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Pituicytoma |
|
Amenorrhea, Hypogonadotropic hypogonadism, Pituitary hypothyroidism, Decreased female libido, Dec... |
ORPHA:251623 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Male pseudohermaphroditism, Infertility, Female external genitalia in individual with 46,XY karyo... |
OMIM:264300 |
46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... |
OMIM:233420 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size |
OMIM:614880 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:614839 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Short stature, Premature adrenarche, Ambiguous genitalia, fem... |
ORPHA:90795 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia, Patent ductus arteriosus, Varicose veins, Periphera... |
OMIM:126320 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty |
ORPHA:3000 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Short s... |
ORPHA:247768 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypospadias, Elevated circulating follicle stimulating hormone level, Short stature, Ambiguous ge... |
ORPHA:90796 |
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Infertility, Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous genitalia, Cryp... |
ORPHA:752 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Diabetes mellitus, Cryptorchidism,... |
OMIM:610628 |
Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... |
ORPHA:754 |
Hyperostosis Frontalis Interna |
|
Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration |
OMIM:144800 |
Premature Ovarian Failure 11 |
|
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level |
OMIM:616946 |
Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Azoospermia, Abnormality of ... |
ORPHA:261529 |
Post-Traumatic Pituitary Deficiency |
|
Abnormal prolactin level, Infertility, Growth delay, Amenorrhea, Hypogonadotropic hypogonadism, P... |
ORPHA:95619 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus |
OMIM:277000 |
Placental Site Trophoblastic Tumor |
|
Spontaneous abortion, Metrorrhagia, Amenorrhea |
ORPHA:99928 |
Functioning Gonadotropic Adenoma |
|
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... |
ORPHA:91348 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... |
ORPHA:206484 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... |
ORPHA:2138 |
Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Coarctation of aorta, Pulm... |
OMIM:613426 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Clitoral hypertrophy, Ambiguous genitalia, Primary amenorrhea |
OMIM:264270 |
Hymen, Imperforate |
|
Hydrocolpos, Imperforate hymen, Amenorrhea, Hematocolpos |
OMIM:237100 |
Rothmund-Thomson Syndrome, Type 1 |
|
Hypothyroidism, Male hypogonadism, Short stature, Premature ovarian insufficiency |
OMIM:618625 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Secondary amenorrhea, Type II diabetes mellitus, Short stature, Polycystic ovaries, Hypergonadotr... |
ORPHA:3085 |
Androgen Insensitivity Syndrome |
|
Elevated circulating follicle stimulating hormone level, Labial hypoplasia, Female external genit... |
OMIM:300068 |
Klippel-Trénaunay Syndrome |
|
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Gastrointestinal hemorrhage, Atria... |
ORPHA:90308 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size |
OMIM:614897 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome, Ambiguous genitalia, Primary amenorrhea, Male pseudo... |
OMIM:202110 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... |
ORPHA:1916 |
Seckel Syndrome 7 |
|
Central hypothyroidism, Intrauterine growth retardation, Severe short stature, Primary amenorrhea... |
OMIM:614851 |
Scimitar Syndrome |
|
Left-to-right shunt, Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arterios... |
ORPHA:185 |
Frasier Syndrome |
|
Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis, Primary amenorrhea |
OMIM:136680 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... |
OMIM:601494 |
Polyembryoma |
|
Macroorchidism, Increased serum testosterone level, Increased serum serotonin, Abnormality of the... |
ORPHA:180229 |
Frasier Syndrome |
|
Gonadal dysgenesis with female appearance, male, Streak ovary, Gonadoblastoma, Increased circulat... |
ORPHA:347 |
Leukoencephalopathy With Vanishing White Matter |
|
Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Decreased circulating ... |
OMIM:603896 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypertension, Coarctation of the descending aortic arch, Persistent left s... |
ORPHA:1457 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Short stature, Premature ovarian insufficiency |
OMIM:618124 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absence of pubertal development... |
ORPHA:432 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Small pituitary gland, Micropenis, Primary amenorrhea, Cryptorchidism |
OMIM:612702 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Reduced ejection fraction, Aortic regurgitation, Patent ductus arter... |
OMIM:616501 |
Atrial Standstill |
|
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... |
ORPHA:1344 |
Bdv Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Oligomenorrhea, Pituitary hypothyroidism, Impotence, Adrenocorticotropic hormone deficiency, Cent... |
ORPHA:91354 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... |
ORPHA:251510 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
Estrogen Resistance Syndrome |
|
Absence of pubertal development, Absence of secondary sex characteristics, Increased circulating ... |
ORPHA:785 |
Lipodystrophy, Familial Partial, Type 4 |
|
Oligomenorrhea, Diabetes mellitus |
OMIM:613877 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Venous insufficiency, Pulmonary embolism |
ORPHA:745 |
Akt2-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased serum leptin, ... |
ORPHA:79085 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Gray Platelet Syndrome |
|
Abnormality of the menstrual cycle |
ORPHA:721 |
Ovarian Dysgenesis 8 |
|
Hypoplastic labia majora, Elevated circulating luteinizing hormone level, Primary amenorrhea, Ele... |
OMIM:618187 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Secondary amenorrhea, Short stature, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hyp... |
OMIM:268020 |
Pituitary Stalk Interruption Syndrome |
|
Diabetes insipidus, Short stature, Abnormality of the hypothalamus-pituitary axis, Adrenal hypopl... |
ORPHA:95496 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating progesterone, Aplasia of the uterus, Increased serum testosterone level, Fu... |
ORPHA:90794 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormality of blood circulation, Abnormal coronary artery morphology, Levotransposition of the g... |
ORPHA:860 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Abnormal coronary artery origin, Mitral steno... |
ORPHA:1686 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Secondary growth hormone d... |
ORPHA:2235 |
Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia |
OMIM:602390 |
Interstitial Cystitis |
|
Abnormal vagina morphology, Abnormality of the menstrual cycle, Abnormal labia morphology, Dyspar... |
ORPHA:37202 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Syncope, Paroxysmal atrial fibrillation, Atrial septal dil... |
ORPHA:1677 |
Pregnancy Loss, Recurrent, Susceptibility To, 3 |
|
Recurrent spontaneous abortion |
OMIM:614391 |
Pregnancy Loss, Recurrent, Susceptibility To, 2 |
|
Recurrent spontaneous abortion |
OMIM:614390 |
Pregnancy Loss, Recurrent, Susceptibility To, 1 |
|
Recurrent spontaneous abortion |
OMIM:614389 |
Satoyoshi Syndrome |
|
Short stature, Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
Gestational Choriocarcinoma |
|
Spontaneous abortion, Metrorrhagia |
ORPHA:99926 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Short stature, Premature ovarian insufficiency |
ORPHA:2928 |
Adrenal Hypoplasia, Congenital |
|
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Hypogo... |
OMIM:300200 |
Premature Ovarian Failure 14 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated circulating follicle... |
OMIM:618014 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome |
|
Premature ovarian insufficiency |
ORPHA:126 |
Prolactinoma |
|
Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary gland, ... |
ORPHA:2965 |
Non-Functioning Pituitary Adenoma |
|
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... |
ORPHA:91349 |
Vaginal Atresia |
|
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... |
ORPHA:65681 |
Pituitary Gigantism |
|
Type II diabetes mellitus, Increased serum insulin-like growth factor 1, Amenorrhea, Pituitary gr... |
ORPHA:99725 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Venous insufficiency, Pulmonary embolism |
ORPHA:743 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal penis morphology, Goiter, Abnormality of the menstrual cycle, Polycystic ovaries, Neopla... |
ORPHA:457059 |
Senior-Loken Syndrome |
|
Short stature, Premature ovarian insufficiency |
ORPHA:3156 |
Familial Multiple Nevi Flammei |
|
Intracranial hemorrhage, Arteriovenous malformation, Venous insufficiency, Pulmonary embolism, Ar... |
ORPHA:624 |
Pituitary Adenoma 1, Multiple Types |
|
Increased serum insulin-like growth factor 1, Pituitary growth hormone cell adenoma, Pituitary ad... |
OMIM:102200 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Prima... |
OMIM:604367 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Decreased circu... |
ORPHA:453533 |
Androgen Insensitivity, Partial |
|
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... |
OMIM:312300 |
Generalized Glucocorticoid Resistance Syndrome |
|
Oligospermia, Adrenal hyperplasia, Decreased circulating aldosterone level, Infertility, Oligomen... |
ORPHA:786 |
Cidec-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased serum leptin, ... |
ORPHA:435651 |
46,Xx Sex Reversal 2 |
|
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... |
OMIM:278850 |
Proprotein Convertase 1/3 Deficiency |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating cortisol level |
OMIM:600955 |
Truncus Arteriosus |
|
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary arte... |
ORPHA:3384 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... |
ORPHA:289548 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... |
ORPHA:168558 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Premature ovarian insufficiency, Decreased serum testosterone concentration |
ORPHA:101006 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level, Penoscrotal hypospadias, E... |
OMIM:612965 |
Alpha-Heavy Chain Disease |
|
Growth delay, Premature ovarian insufficiency |
ORPHA:100025 |
Angioosteohypotrophic Syndrome |
|
Telangiectasia of the skin, Venous malformation, Prominent superficial veins |
ORPHA:75508 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Varicose veins, Hypoplasia of lymphatic vessels, Venous insufficiency, Abnormal lymphatic vessel ... |
ORPHA:568051 |
Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Infertility |
OMIM:615962 |
Idiopathic Pulmonary Arterial Hypertension |
|
Syncope, Abnormal jugular vein morphology, Right ventricular hypertrophy, Palpitations, Pulmonary... |
ORPHA:275766 |
Classic Galactosemia |
|
Secondary amenorrhea, Oligomenorrhea, Decreased serum insulin-like growth factor 1, Male infertil... |
ORPHA:79239 |
Proteus Syndrome |
|
Venous malformation |
OMIM:176920 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Hypospadias, Dysmenorrhea, Bifid scrotum, Intrauterine growth retardation, Abnormality of the scr... |
ORPHA:397590 |
Lipe-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased serum leptin, ... |
ORPHA:435660 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, Increased circulating gonadotropin level, Female infertility, Premature ovarian insuf... |
OMIM:110100 |
Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Persistent left super... |
OMIM:108800 |
Lig4 Syndrome |
|
Cryptorchidism, Micropenis, Amenorrhea, Hypothyroidism |
OMIM:606593 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:617228 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Congestive heart failure, Venous insufficiency, Arteriovenous malformation |
ORPHA:137608 |
Galactosemia |
|
Secondary amenorrhea, Oligomenorrhea, Decreased serum insulin-like growth factor 1, Primary ameno... |
ORPHA:352 |
Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... |
OMIM:163800 |
Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... |
ORPHA:199310 |
Peritoneal Cystic Mesothelioma |
|
Menorrhagia, Metrorrhagia, Dyspareunia |
ORPHA:168816 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Female infertility, Short stature, Premature ovarian insufficiency |
OMIM:619518 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Hypospadias, Intrauterine growth retardation, Chordee, Spontaneous abortion, Bilateral cryptorchi... |
ORPHA:96179 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Disproportionate short-limb short stature, Primary amenorrhea, Hypergon... |
OMIM:609441 |
Absence Of The Pulmonary Artery |
|
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Abnormal infer... |
ORPHA:980 |
Heterotaxy, Visceral, 7, Autosomal |
|
Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, Dextrocardia, ... |
OMIM:616749 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Clitoral hypertrop... |
ORPHA:528 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Hypoparathyroidism, Uterus didelphys, Septate vagina, Primary amenorrhea, ... |
OMIM:146255 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Bicornuate uterus, Hypoplasia of the uterus, Short stature, Azoospermia |
OMIM:601076 |
Parkes Weber Syndrome |
|
Arteriovenous fistula, Muscle hypertrophy of the lower extremities, Abnormal lymphatic vessel mor... |
ORPHA:90307 |
Congenital Heart Defects, Multiple Types, 6 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... |
OMIM:613854 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... |
ORPHA:90791 |
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Increased size of the clitoris, Ambiguous genitalia, female, Primary amenorrhea, Fused labia minora |
ORPHA:2975 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Varicose veins, Tetralogy of Fallot, Arrhythmia |
OMIM:153400 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypoplastic labia minora, Short stature, Premature adrenarche, Decreased inhibin B level, Anterio... |
ORPHA:98754 |
Congenital Factor Vii Deficiency |
|
Menorrhagia, Ovarian cyst |
ORPHA:327 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Aortic dissection, Decreased muscle mass, Mitral valve prolapse, Abnormal venous morphology, Limb... |
ORPHA:1900 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... |
OMIM:252011 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Type II diabetes mellitus, Growth delay, Ambiguous genitalia, femal... |
ORPHA:91 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypoplastic labia minora, Short stature, Premature adrenarche, Decreased inhibin B level, Anterio... |
ORPHA:98793 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... |
ORPHA:216694 |
Varicose Veins |
|
Varicose veins |
OMIM:192200 |
Thoracic Outlet Syndrome |
|
Varicose veins |
ORPHA:97330 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypoplastic labia minora, Short stature, Premature adrenarche, Decreased inhibin B level, Anterio... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypoplastic labia minora, Short stature, Premature adrenarche, Decreased inhibin B level, Anterio... |
ORPHA:177901 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... |
OMIM:202010 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypoplastic labia minora, Central hypothyroidism, Infertility, Type II diabetes mellitus, Prematu... |
ORPHA:398079 |
Woodhouse-Sakati Syndrome |
|
Growth delay, Streak ovary, Insulin-resistant diabetes mellitus, Hypoplasia of the fallopian tube... |
ORPHA:3464 |
Naxos Disease |
|
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... |
OMIM:601214 |
Milroy Disease |
|
Varicose veins, Abnormal venous morphology |
ORPHA:79452 |
Familial Afibrinogenemia |
|
Spontaneous abortion, Menometrorrhagia |
ORPHA:98880 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Varicose veins, Venous malformation |
OMIM:613089 |
Temple Syndrome |
|
Type II diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, ... |
ORPHA:254516 |
Precocious Puberty, Central, 1 |
|
Short stature, Elevated circulating follicle stimulating hormone level, Isosexual precocious pube... |
OMIM:176400 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Dilatation of celiac artery, Cerebral hemorrhage, Ischemic stroke, Spinal arteriovenous malformat... |
OMIM:610655 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Varicose veins, Hypotension |
OMIM:263400 |
Pituitary Dermoid And Epidermoid Cysts |
|
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... |
ORPHA:91351 |
Non-Acquired Panhypopituitarism |
|
Abnormal prolactin level, Infertility, Growth delay, Amenorrhea, Short stature, Hypogonadotropic ... |
ORPHA:90695 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Growth delay, Hypogonadism, Cryptorchidism, Precocious puberty, Gonadal dysgenesis |
ORPHA:3306 |
Meacham Syndrome |
|
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cav... |
OMIM:608978 |
Lymphatic Malformation 7 |
|
Varicose veins, Pericardial effusion, Atrial septal defect |
OMIM:617300 |
Prader-Willi-Like Syndrome |
|
Hypoplastic labia minora, Short stature, Premature adrenarche, Decreased inhibin B level, Anterio... |
ORPHA:398073 |
Enlarged Parietal Foramina |
|
Venous malformation, Myelomeningocele |
ORPHA:60015 |
Prader-Willi Syndrome |
|
Hypoplastic labia minora, Short stature, Premature adrenarche, Decreased inhibin B level, Diabete... |
ORPHA:739 |
Woodhouse-Sakati Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Hypoplasia of the fa... |
OMIM:241080 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Secondary amenorrhea, Lacrimal gland aplasia, Oligomenorrhea, Streak ovary, Elevated circulating ... |
ORPHA:572333 |
Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Severe postnatal growth retardation,... |
OMIM:266810 |
Mccune-Albright Syndrome |
|
Macroorchidism, Increased serum testosterone level, Goiter, Primary hypercortisolism, Increased c... |
ORPHA:562 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Long penis, Short stature, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, Clitoral h... |
OMIM:262190 |
Liposarcoma |
|
Varicose veins |
ORPHA:69078 |
Testicular Agenesis |
|
Vanishing testis, Decreased serum testosterone concentration, Urethrovaginal fistula, Abnormal va... |
ORPHA:325124 |
Ovarian Fibroma |
|
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma |
ORPHA:314473 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Systol... |
OMIM:617478 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Oligospermia, Hypospadias, Adrenal hyperplasia, Increased circulating progesterone, Fused labia m... |
ORPHA:95699 |
Marfanoid Habitus With Situs Inversus |
|
Mitral valve prolapse, Persistent left superior vena cava, Aortic root aneurysm, Situs inversus t... |
OMIM:609008 |
Tsh-Secreting Pituitary Adenoma |
|
Goiter, Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary... |
ORPHA:91347 |
Autosomal Dominant Spastic Paraplegia Type 10 |
|
Upper limb amyotrophy, Leg muscle stiffness, Distal lower limb amyotrophy, Dupuytren contracture,... |
ORPHA:100991 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Mitral regurgitation, Pulmonary arterial hypertension, Patent ductus arteriosus, Pulmonic stenosi... |
OMIM:612541 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Persistent left superior vena cava, Double outlet right ventricle, Patent ductus arteriosus, Pulm... |
ORPHA:3304 |
Hypoplasminogenemia |
|
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis |
ORPHA:722 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypoplastic labia minora, Central hypothyroidism, Infertility, Type II diabetes mellitus, Short s... |
ORPHA:398069 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Decreased circulating aldosterone level, Hypoparathyroidism, Adrenal insufficiency, Cholelithiasi... |
OMIM:240300 |
Kaposi Sarcoma |
|
Venous insufficiency |
ORPHA:33276 |
Prader-Willi Syndrome |
|
Hypoplastic labia minora, Adrenal insufficiency, Infertility, Oligomenorrhea, Type II diabetes me... |
OMIM:176270 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Mitral regurgitation, Neonatal death, Left ventricular systolic dysfuncti... |
OMIM:619167 |
Peripheral Primitive Neuroectodermal Tumor |
|
Ovarian neoplasm, Neoplasm of the pancreas, Metrorrhagia, Precocious puberty, Uterine neoplasm, N... |
ORPHA:370348 |
Thymic Carcinoma |
|
Abnormal vena cava morphology |
ORPHA:99868 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... |
OMIM:157640 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal aortic arch morphology, Conotruncal defect, Abnormality of the pu... |
ORPHA:2306 |
Donohue Syndrome |
|
Intrauterine growth retardation, Long penis, Clitoral hypertrophy, Pancreatic islet-cell hyperpla... |
OMIM:246200 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Oligomenorrhea, Short stature, Polycystic ovaries, Postnatal growth retardation, Ir... |
ORPHA:79240 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating aldosterone level, Testicular adrenal rest tumor, Adrenal insufficiency, Co... |
ORPHA:361 |
Foix-Alajouanine Syndrome |
|
Arteriovenous fistula, Distal lower limb amyotrophy, Venous malformation, Distal lower limb muscl... |
ORPHA:79093 |
Bardet-Biedl Syndrome 1 |
|
Abnormality of the ovary, Hypogonadism, Vaginal atresia, Micropenis, Nephrogenic diabetes insipid... |
OMIM:209900 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Facial telangiectasia, Ventricular septal defect, Mitral valve prolapse, Left superior vena cava ... |
OMIM:602782 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Spinal dysraphism, Venous malformation |
OMIM:612918 |
Renal Nutcracker Syndrome |
|
Syncope, Vulval varicose vein, Orthostatic hypotension, Tachycardia, Varicose veins, Dilatation o... |
ORPHA:71273 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Aortic dissection, Abnormal heart morphology, Varicose veins, Vascular dilatation, Camptodactyly |
OMIM:618343 |
Primary Ciliary Dyskinesia |
|
Persistent left superior vena cava, Double outlet right ventricle, Situs inversus totalis, Abnorm... |
ORPHA:244 |
Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Torticollis, Varicose veins |
OMIM:314300 |
Livedoid Vasculopathy |
|
Hypertension, Abnormal capillary morphology, Telangiectasia of the skin, Varicose veins, Venous i... |
ORPHA:542643 |
Lymphedema-Distichiasis Syndrome |
|
Varicose veins, Arrhythmia, Patent ductus arteriosus |
ORPHA:33001 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Spinal arteriovenous malformation, Spontaneous, recurrent epistaxis, Pulmonary arteriovenous malf... |
OMIM:187300 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Ventricular septal defect, Abnormal vena cava morphology, Heart murmur |
ORPHA:166035 |
Clapo Syndrome |
|
Varicose veins, Venous malformation |
ORPHA:168984 |
Angioosteohypertrophic Syndrome |
|
Telangiectasia of the skin, Tricuspid valve prolapse, Gastrointestinal hemorrhage, Venous insuffi... |
ORPHA:2346 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion, Persistent left sup... |
OMIM:618775 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Varicose veins |
OMIM:125310 |
Glomuvenous Malformation |
|
Gastrointestinal arteriovenous malformation, Venous malformation, Arteriovenous malformation |
ORPHA:83454 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hypospadias, Adrenal hyperplasia, Bifid scrotum, Absent scrotum, Micropenis, Ambiguous genitalia,... |
OMIM:201810 |
Limb-Mammary Syndrome |
|
Aplasia of the uterus, Hypoplastic nipples, Aplasia of the ovary, Bilateral breast hypoplasia, Pr... |
ORPHA:69085 |
Menkes Disease |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Intracranial hemorrhage, Gastrointestinal h... |
ORPHA:565 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Telangiectasia of the skin, Abnormal venous morphology |
ORPHA:276280 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Aplasia of the uterus, Hypoparathyroidism, Severe postnatal growth retardation, Uterus didelphys,... |
ORPHA:2237 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Dysplastic tricuspid valve, Neonatal death, Patent ductus arteriosus, Misa... |
OMIM:265380 |
Mccune-Albright Syndrome |
|
Increased circulating cortisol level, Pituitary adenoma, Hyperthyroidism, Hyperparathyroidism, El... |
OMIM:174800 |
Thymic Neuroendocrine Tumor |
|
Prominent veins on trunk, Abnormal vena cava morphology |
ORPHA:97289 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Double outlet right ventricle, P... |
ORPHA:163956 |
Loeys-Dietz Syndrome 3 |
|
Bicuspid aortic valve, Tortuous cerebral arteries, Aortic tortuosity, Patent ductus arteriosus, V... |
OMIM:613795 |
Carney Complex |
|
Oligospermia, Thyroid carcinoma, Sertoli cell neoplasm, Abnormal morphology of female internal ge... |
ORPHA:1359 |
Progeroid Short Stature With Pigmented Nevi |
|
Hypospadias, Short stature, Chordee, Diabetes mellitus, Premature ovarian insufficiency, Delayed ... |
OMIM:176690 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Short stature, Chordee, Clitoral hypertrophy, Micropenis, Ovotestis, Hypoplasia of t... |
OMIM:309801 |
Myhre Syndrome |
|
Hypospadias, Abnormal penis morphology, Intrauterine growth retardation, External genital hypopla... |
ORPHA:2588 |
Lumbar Syndrome |
|
Hypospadias, Hypoplastic labia majora, Bifid scrotum, Bifid uterus, Micropenis, Ambiguous genital... |
ORPHA:83628 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Carotid artery stenosis, Mitral valve prolapse, Pericardial effusion, Aortic root aneurysm, Promi... |
ORPHA:536532 |
Exstrophy-Epispadias Complex |
|
Male sexual dysfunction, Cystocele, Bifid scrotum, Bifid uterus, Absent penis, Bifid penis, Penos... |
ORPHA:322 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Intrauterine growth re... |
ORPHA:99413 |
Turner Syndrome |
|
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Intrauterine growth re... |
ORPHA:881 |
Mosaic Monosomy X |
|
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Intrauterine growth re... |
ORPHA:99228 |
Monosomy X |
|
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Intrauterine growth re... |
ORPHA:99226 |
Proteus-Like Syndrome |
|
Venous insufficiency |
ORPHA:2969 |
Harrod Syndrome |
|
Varicose veins |
OMIM:601095 |
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome |
|
Aplasia of the uterus, Intrauterine growth retardation, Urethral atresia, Disproportionate short-... |
ORPHA:94095 |
H Syndrome |
|
Facial telangiectasia, Abnormal cardiovascular system physiology, Varicose veins, Camptodactyly |
ORPHA:168569 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Reduced sperm motility, Maturity-onset ... |
OMIM:137920 |
Familial Cerebral Cavernous Malformation |
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Cerebral hemorrhage, Venous malformation |
ORPHA:221061 |
Meige Disease |
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Varicose veins |
ORPHA:90186 |
Thauvin-Robinet-Faivre Syndrome |
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Macroglossia, Ventricular septal defect, Varicose veins, Mitral valve prolapse |
OMIM:617107 |
Gitelman Syndrome |
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Prominent U wave, Syncope, Abnormal T-wave, Prolonged QT interval, Pericardial effusion, Palpitat... |
ORPHA:358 |
22Q11.2 Deletion Syndrome |
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Meningocele, Retinal arteriolar tortuosity, Abnormal aortic arch morphology, Truncus arteriosus, ... |
ORPHA:567 |
Hepatocellular Carcinoma |
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Budd-Chiari syndrome, Venous insufficiency, Portal hypertension, Hypotension, Internal hemorrhage |
ORPHA:88673 |
Townes-Brocks Syndrome 2 |
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Hypospadias, Rectovaginal fistula, Bifid uterus |
OMIM:617466 |
Lymphatic Malformation 6 |
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Intestinal lymphangiectasia, Varicose veins, Atrial septal defect |
OMIM:616843 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Right ventricular hyper... |
OMIM:300967 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Ventricular septal defect, Mitral valve prolapse, Macroglossia, Varicose veins, Abnormal right ve... |
ORPHA:500095 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
Oeis Complex |
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Bifid uterus, Vesicovaginal fistula, Labial hypoplasia, Rectovaginal fistula, Absent scrotum, Amb... |
OMIM:258040 |
Phocomelia, Schinzel Type |
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Aplasia of the uterus, Intrauterine growth retardation, Cryptorchidism, Hypoplasia of penis, Disp... |
ORPHA:2879 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Bifid uterus |
ORPHA:2736 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Bacterial endocarditis, Mitral valve calcification, Pulmonary arterial hypertension, Spontaneous,... |
ORPHA:2072 |
Ehlers-Danlos Syndrome, Vascular Type |
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Carotid cavernous fistula, Mitral valve prolapse, Arterial rupture, Recurrent intrapulmonary hemo... |
OMIM:130050 |
Chromosome 17Q12 Deletion Syndrome |
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Aplasia of the uterus, Urethral stenosis, Aplasia of the vagina, Unicornuate uterus, Short statur... |
OMIM:614527 |
Vascular Ehlers-Danlos Syndrome |
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Arteriovenous fistula, Pulmonary artery aneurysm, Ascending tubular aorta aneurysm, Aortic dissec... |
ORPHA:286 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Urethral atresia, Absent external genitalia, Aplasia of the uterus, Aplasia of the vagina |
OMIM:271520 |
Hypermobile Ehlers-Danlos Syndrome |
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Ascending tubular aorta aneurysm, Aplasia/Hypoplasia of the abdominal wall musculature, Tendon ru... |
ORPHA:285 |
Thrombocytopenia-Absent Radius Syndrome |
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Aplasia of the uterus |
ORPHA:3320 |
Pontocerebellar Hypoplasia Type 7 |
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Aplasia of the uterus, Absent penis, Microphallus, Clitoral hypertrophy, Abnormal scrotal rugatio... |
ORPHA:284339 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Abnormal reproductive system morphology, Bifid uterus, Supernumerary nipple |
ORPHA:1521 |
Occipital Horn Syndrome |
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Vascular dilatation, Venous insufficiency |
ORPHA:198 |
Microphthalmia With Limb Anomalies |
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Venous insufficiency, Camptodactyly of 2nd-5th fingers |
ORPHA:1106 |
Cardiac-Urogenital Syndrome |
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Aplasia of the uterus, Bifid scrotum, Micropenis, Ambiguous genitalia, Cryptorchidism |
OMIM:618280 |
Thrombocytopenia-Absent Radius Syndrome |
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Aplasia of the uterus, Pancreatic cysts, Short stature |
OMIM:274000 |
Norrie Disease |
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Uterine rupture, Erectile dysfunction, Diabetes mellitus, Cryptorchidism, Delayed puberty |
ORPHA:649 |
Wolf-Hirschhorn Syndrome |
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Hypospadias, Aplasia of the uterus, Intrauterine growth retardation, Severe postnatal growth reta... |
OMIM:194190 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Aplasia of the uterus, Aplasia of the vagina |
ORPHA:457284 |
Hydrolethalus Syndrome 1 |
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Hypospadias, Abnormal vagina morphology, Intrauterine growth retardation, Bifid uterus, Adrenal g... |
OMIM:236680 |
Townes-Brocks Syndrome 1 |
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Hypospadias, Urethral valve, Bifid scrotum, Bifid uterus, Rectovaginal fistula, Rectoperineal fis... |
OMIM:107480 |
Rubinstein-Taybi Syndrome 1 |
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Hypospadias, Bifid uterus, Short stature, Growth delay, Papillary cystadenoma of the epididymis, ... |
OMIM:180849 |
Coffin-Siris Syndrome 1 |
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Hypospadias, Aplasia of the uterus, Intrauterine growth retardation, Short stature, Clitoral hype... |
OMIM:135900 |
46,Xx Sex Reversal 5 |
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Increased serum testosterone level, Ambiguous genitalia, Urogenital sinus anomaly |
OMIM:618901 |
Okamoto Syndrome |
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Severe postnatal growth retardation, Bifid uterus |
ORPHA:2729 |
Neu-Laxova Syndrome 1 |
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Cryptorchidism, Intrauterine growth retardation, Bifid uterus |
OMIM:256520 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Hypospadias, Disproportionate short stature, Aplasia of the uterus, Hypoplastic nipples, Cryptorc... |
OMIM:276820 |
Loeys-Dietz Syndrome |
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Uterine rupture |
ORPHA:60030 |
Pallister-Killian Syndrome |
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Hypospadias, Hypoplastic labia majora, Aplasia of the uterus, Growth delay, Small scrotum, Aplasi... |
OMIM:601803 |