Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
Ovarian Dysgenesis 7 |
|
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:618117 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Primary amenorrhea, Microphallus, Decreased testicular size, Absence of pubertal development, Cry... |
OMIM:614840 |
Invasive Mole |
|
Menometrorrhagia |
ORPHA:99925 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... |
OMIM:300510 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Decreased serum testosterone concentration, Aplasia of the uterus, Elev... |
OMIM:273250 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Female infertility, Oocyte arrest at metaphase I, Polycystic ovaries, A... |
ORPHA:488191 |
Asherman Syndrome |
|
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... |
ORPHA:137686 |
Ovarian Dysgenesis 6 |
|
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... |
OMIM:618078 |
Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619665 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:607080 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Short stature, Elevated circulating luteinizing hormone level, Primary... |
OMIM:617690 |
Perrault Syndrome 6 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... |
OMIM:617565 |
Premature Ovarian Failure 18 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... |
OMIM:619203 |
Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea |
OMIM:608996 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility |
OMIM:617996 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l... |
OMIM:612964 |
Left Ventricular Noncompaction 1 |
|
Patent ductus arteriosus, Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia... |
OMIM:604169 |
Premature Ovarian Failure 13 |
|
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... |
OMIM:617442 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
Hyperprolactinemia |
|
Female infertility, Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea |
OMIM:615555 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Delayed puberty, Primary amenorrhea |
OMIM:300604 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... |
OMIM:614841 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Short stature, Hypogonadism, Postnatal growth retardation |
OMIM:616113 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Elevated circulating f... |
OMIM:612310 |
Leydig Cell Hypoplasia |
|
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... |
ORPHA:755 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size |
ORPHA:393 |
Gordon Holmes Syndrome |
|
Secondary amenorrhea, Oligomenorrhea, Absence of pubertal development, Primary amenorrhea, Hypogo... |
OMIM:212840 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea |
OMIM:233300 |
Xp22.3 Microdeletion Syndrome |
|
Decreased fertility, Short stature, Secondary amenorrhea, Polycystic ovaries, Hypogonadotropic hy... |
ORPHA:1643 |
Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619834 |
Premature Ovarian Failure 1 |
|
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency |
OMIM:311360 |
Perrault Syndrome 3 |
|
Streak ovary, Short stature, Elevated circulating luteinizing hormone level, Hypergonadotropic hy... |
OMIM:614129 |
46,Xy Sex Reversal 1 |
|
Ambiguous genitalia, Abnormality of female external genitalia, Gonadoblastoma, Sex reversal, Abse... |
OMIM:400044 |
Premature Ovarian Failure 5 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... |
OMIM:611548 |
Complete Androgen Insensitivity Syndrome |
|
Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim... |
ORPHA:99429 |
Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Decreased cirrculating antimullerian hormone circul... |
OMIM:618096 |
Placental Site Trophoblastic Tumor |
|
Metrorrhagia, Amenorrhea |
ORPHA:99928 |
Ovarian Fibrothecoma |
|
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... |
ORPHA:314478 |
Cortisone Reductase Deficiency 1 |
|
Infertility, Precocious puberty, Oligomenorrhea |
OMIM:604931 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,... |
ORPHA:168563 |
Testicular Regression Syndrome |
|
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... |
ORPHA:983 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... |
OMIM:601493 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea |
OMIM:184700 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Primary amenorrhea, Decreased testicular size, Infertility, Cryptorchidism, Hypogonadotropic hypo... |
OMIM:146110 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Uterus didelphys, Metrorrhagia, Partial vaginal septum, Dyspareunia, Abnormal uterine cervix morp... |
ORPHA:3411 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Abnormal spermatogenesis, Testicular microlithiasis, Secondary amenorrhea, Decreased circulating ... |
OMIM:228300 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:613546 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ure... |
ORPHA:2795 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrial septal defect, Persistent left superior vena cava, Abnormal hea... |
OMIM:614954 |
Ovarian Dysgenesis 4 |
|
Elevated circulating follicle stimulating hormone level, Decreased serum estradiol, Short stature... |
OMIM:616185 |
Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... |
OMIM:615723 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ... |
OMIM:615396 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... |
OMIM:614837 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... |
OMIM:615724 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased testicular size, Cryptorchidism, Primary amenorrhea |
OMIM:614858 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the vagina, Aplasia of the fallopian tube, Aplasia of the uterus, Primary amenorrhea, ... |
OMIM:158330 |
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... |
ORPHA:2975 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C... |
OMIM:615373 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Decreased fertility, Short stature, Absence of secondary sex characteristics, Increased circulati... |
ORPHA:2410 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased testicular size, Decreased serum leptin, Primary amenorrhea, Micropenis |
OMIM:614962 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... |
OMIM:613642 |
46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis |
ORPHA:242 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... |
ORPHA:280356 |
Von Willebrand Disease |
|
Abnormal mitral valve morphology, Venous insufficiency |
ORPHA:903 |
Satoyoshi Syndrome |
|
Short stature, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ovary, Neph... |
ORPHA:3130 |
Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Polycystic ovaries, Delayed puberty,... |
OMIM:615363 |
Ovarian Dysgenesis 3 |
|
Aplasia of the ovary, Delayed puberty, Female infertility, Elevated circulating luteinizing hormo... |
OMIM:614324 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:616030 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici... |
OMIM:618841 |
Perrault Syndrome 4 |
|
Primary amenorrhea, Decreased serum estradiol, Secondary amenorrhea, Premature ovarian insufficie... |
OMIM:615300 |
Premature Ovarian Failure 10 |
|
Hypothyroidism, Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplas... |
OMIM:612885 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
Tricuspid Atresia |
|
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... |
ORPHA:1209 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,... |
ORPHA:52901 |
Atrial Standstill |
|
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... |
ORPHA:1344 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Short stature, Abnormality of the ovary, Hypoplasia of the ut... |
ORPHA:247768 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis, Varicose veins... |
OMIM:126320 |
Premature Ovarian Failure 11 |
|
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Secondary amenorrhea |
OMIM:616946 |
Pituicytoma |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:251623 |
46,Xy Sex Reversal 7 |
|
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Abnormal spermatogenesis, Gonadoblastoma, Ambiguou... |
ORPHA:261529 |
Hyperostosis Frontalis Interna |
|
Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration |
OMIM:144800 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Decrease... |
ORPHA:90796 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Premature pubarche, Short stature, Secondary amenorrhea |
OMIM:612847 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Abnormality of the uterus, Delayed puberty, Male infertility, Male pse... |
ORPHA:754 |
Gonadoblastoma |
|
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... |
ORPHA:206484 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Ambiguous genitalia, Precocious puberty, Premature thelarche, Ambiguous genitalia, female, Decrea... |
ORPHA:90795 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Short stature, Secondary amenorrhea, Decreased testicular size, Type II diabete... |
ORPHA:3085 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus |
OMIM:277000 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male ... |
ORPHA:2138 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Hypothyroidism, Infertility, Male pseudohermaphroditism, Female external genitalia in individual ... |
OMIM:264300 |
Androgen Insensitivity Syndrome |
|
Labial hypoplasia, Elevated circulating luteinizing hormone level, Blind vagina, Primary amenorrh... |
OMIM:300068 |
Post-Traumatic Pituitary Deficiency |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Decreased circu... |
ORPHA:95619 |
Diethylstilbestrol Syndrome |
|
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... |
ORPHA:1916 |
Functioning Gonadotropic Adenoma |
|
Impotence, Decreased female libido, Anterior hypopituitarism, Oligospermia, Increased circulating... |
ORPHA:91348 |
Aorta Coarctation |
|
Patent ductus arteriosus, Aortic valve atresia, Pulmonary arterial hypertension, Perimembranous v... |
ORPHA:1457 |
Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility |
ORPHA:3000 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ambiguous genitalia, Clitoral hypertrophy, Primary amenorrhea |
OMIM:264270 |
46,Xx Gonadal Dysgenesis |
|
Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Short stature, Secondary ame... |
ORPHA:243 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:614897 |
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypothyroidism, Ambiguous genitalia, Infertility, Male pseudohermaphroditism, Cryptorchidism, Hyp... |
ORPHA:752 |
Scimitar Syndrome |
|
Truncus arteriosus, Hypoplasia of the diaphragm, Heart block, Abnormal vena cava morphology, Abno... |
ORPHA:185 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Primary amenorrhea, Decreased testicular size, Diabetes mellitus, Absence of pubertal development... |
OMIM:610628 |
Premature Ovarian Failure 2A |
|
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Elevate... |
OMIM:300511 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Patent ductus arteriosus, Reduced left ventricular ejection fraction, Left ventricular noncompact... |
OMIM:616501 |
Klippel-Trénaunay Syndrome |
|
Patent ductus arteriosus, Pulmonary embolism, Congestive heart failure, Atrial septal defect, Ven... |
ORPHA:90308 |
Seckel Syndrome 7 |
|
Central hypothyroidism, Severe short stature, Primary amenorrhea, Intrauterine growth retardation... |
OMIM:614851 |
Premature Ovarian Failure 14 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:618014 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Pulmonary embolism, Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:745 |
Frasier Syndrome |
|
Male pseudohermaphroditism, Gonadal dysgenesis, Ovarian gonadoblastoma, Primary amenorrhea |
OMIM:136680 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Ambiguous genitalia, Adrenal hyperplasia, Male pseudohermaphroditism, Pri... |
OMIM:202110 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:614839 |
Bdv Syndrome |
|
Central hypothyroidism, Primary amenorrhea, Decreased circulating follicle stimulating hormone co... |
OMIM:619326 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Primary amenorrhea, Small pituitary gland, Delayed puberty, Cryptorchidism, Hypogonadotropic hypo... |
OMIM:612702 |
Polyembryoma |
|
Irregular menstruation, Macroorchidism, Isosexual precocious puberty, Increased serum testosteron... |
ORPHA:180229 |
Frasier Syndrome |
|
Gonadoblastoma, Decreased serum estradiol, Ambiguous genitalia, male, Increased circulating gonad... |
ORPHA:347 |
Premature Ovarian Failure 20 |
|
Female infertility, Elevated circulating luteinizing hormone level, Elevated circulating follicle... |
OMIM:619938 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Female hypogonadism, Impotence, Secondary amenorrhea, Decreased testicular size, Absence of secon... |
ORPHA:432 |
Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:66628 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Short stature, Secondary amenorrhea, Polycystic ovaries, Hypergonadotropic hypogonadism, Insulin-... |
OMIM:268020 |
Akt2-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet... |
ORPHA:79085 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Premature ovarian insufficiency, Goiter, Secondary amenorrhea |
OMIM:617175 |
46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
Ovarian Dysgenesis 8 |
|
Elevated circulating luteinizing hormone level, Hypoplastic labia majora, Elevated circulating fo... |
OMIM:618187 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... |
ORPHA:785 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:179494 |
Pituitary Stalk Interruption Syndrome |
|
Primary amenorrhea, Hypothyroidism, Diabetes insipidus, Short stature, Hypoplasia of penis, Ectop... |
ORPHA:95496 |
Gray Platelet Syndrome |
|
Abnormality of the menstrual cycle |
ORPHA:721 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... |
OMIM:601494 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricular hypert... |
ORPHA:860 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Pulmonary embolism, Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:743 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Primary amenorrhea, Decreased testicular size, Small pituitary gland, Cryptorchidism, Micropenis |
OMIM:614880 |
Cardiac Diverticulum |
|
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Pulmonary artery stenosis, Endocarditis,... |
ORPHA:1686 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
Interstitial Cystitis |
|
Abnormality of the menstrual cycle, Abnormal labia morphology, Dyspareunia, Abnormality of the ur... |
ORPHA:37202 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... |
ORPHA:1677 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
Satoyoshi Syndrome |
|
Short stature, Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Increased circulating prolactin concentration, Precocious puberty, Decreased response to growth h... |
ORPHA:91354 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea... |
ORPHA:90794 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Decreased fertility, Short stature, Absence of secondary sex characteristics, Anterior hypopituit... |
ORPHA:2235 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, Bi... |
OMIM:613751 |
Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased serum testosterone level, Increased circulating cortisol level,... |
OMIM:615962 |
Lipodystrophy, Familial Partial, Type 3 |
|
Primary amenorrhea, Hyperinsulinemia, Type II diabetes mellitus, Maternal diabetes, Polycystic ov... |
OMIM:604367 |
Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, Abnormality of... |
ORPHA:65681 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Irregular menstruation, Precocious puberty, Hyperthyroidism, Abnormal testis morphology, Abnormal... |
ORPHA:457059 |
Pituitary Adenoma 1, Multiple Types |
|
Irregular menstruation, Increased circulating prolactin concentration, Pituitary adenoma, Prolact... |
OMIM:102200 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... |
OMIM:616249 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Arteriovenous malformation, Intracranial hemorrhage, Venous insufficiency, Ar... |
ORPHA:624 |
Cidec-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet... |
ORPHA:435651 |
Ciliary Dyskinesia, Primary, 40 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Congenitally corrected transposition of ... |
OMIM:618300 |
Pituitary Gigantism |
|
Increased circulating prolactin concentration, Type II diabetes mellitus, Increased circulating i... |
ORPHA:99725 |
Proprotein Convertase 1/3 Deficiency |
|
Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Primary amenorrhea |
OMIM:600955 |
Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... |
OMIM:300200 |
Non-Functioning Pituitary Adenoma |
|
Impotence, Decreased female libido, Anterior hypopituitarism, Adrenal insufficiency, Increased ci... |
ORPHA:91349 |
Truncus Arteriosus |
|
Truncus arteriosus, Tachycardia, Pulmonary artery stenosis, Ventricular septal defect, Interrupte... |
ORPHA:3384 |
Prolactinoma |
|
Impotence, Decreased female libido, Anterior hypopituitarism, Secondary growth hormone deficiency... |
ORPHA:2965 |
46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... |
OMIM:612965 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... |
OMIM:278850 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:289548 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:168558 |
Lipe-Related Familial Partial Lipodystrophy |
|
Abnormal labia majora morphology, Decreased serum leptin, Polycystic ovaries, Decreased adiponect... |
ORPHA:435660 |
Angioosteohypotrophic Syndrome |
|
Prominent superficial veins, Venous malformation, Telangiectasia of the skin |
ORPHA:75508 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:617228 |
Androgen Insensitivity, Partial |
|
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... |
OMIM:312300 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Hypoplasia of lymphatic vessels, Varicose veins, Abnormal lymphatic vessel morphology, Venous ins... |
ORPHA:568051 |
Proteus Syndrome |
|
Venous malformation |
OMIM:176920 |
Generalized Glucocorticoid Resistance Syndrome |
|
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... |
ORPHA:786 |
Tetragametic Chimerism |
|
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin... |
ORPHA:199310 |
Parkes Weber Syndrome |
|
Vascular dilatation, Lower limb muscle weakness, Bounding pulse, Arteriovenous malformation, Cere... |
ORPHA:90307 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ... |
OMIM:616749 |
Atrial Septal Defect 1 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... |
OMIM:108800 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Arteriovenous malformation, Congestive heart failure, Venous insufficiency |
ORPHA:137608 |
Peritoneal Cystic Mesothelioma |
|
Metrorrhagia, Dyspareunia, Menorrhagia |
ORPHA:168816 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level... |
OMIM:110100 |
Lipodystrophy, Familial Partial, Type 5 |
|
Irregular menstruation, Decreased serum leptin, Diabetic ketoacidosis, Decreased adiponectin level |
OMIM:615238 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Myelomeningocele, Venous malformation, Abnormal cerebral vein morphology |
ORPHA:60015 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Hypothyroidism, Abnormality of the scrotum, Microphallus, Bifid scrotum, Hypospadias, Cryptorchid... |
ORPHA:397590 |
Absence Of The Pulmonary Artery |
|
Systolic heart murmur, Truncus arteriosus, Abnormal cardiac septum morphology, Abnormal inferior ... |
ORPHA:980 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Hypoparathyroidism, Primary amenorrhea, Septate vagina, Aplasia of the vag... |
OMIM:146255 |
Idiopathic Pulmonary Arterial Hypertension |
|
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Heart murmur, Syncope, Conge... |
ORPHA:275766 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Bilateral superior vena cava with bridging vein, Wolff-Parkinson-White syndrome, Abnormal left ve... |
ORPHA:216694 |
Congenital Factor Vii Deficiency |
|
Ovarian cyst, Menorrhagia |
ORPHA:327 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Short stature, Bicornuate uterus |
OMIM:601076 |
Loeys-Dietz Syndrome 6 |
|
Abdominal aortic aneurysm, Ventricular hypertrophy, Vertebral artery aneurysm, Carotid artery dis... |
OMIM:619656 |
Woodhouse-Sakati Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... |
ORPHA:3464 |
Erythrocytosis, Familial, 2 |
|
Pulmonary arterial hypertension, Hypotension, Cerebral hemorrhage, Stroke, Varicose veins |
OMIM:263400 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Wrist drop, Muscle fiber atrophy, Vascular dilatation, Elbow flexion contr... |
ORPHA:1900 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Abnormal mitochondria in muscle tissue, Increased intramyocellular lipid dro... |
OMIM:252011 |
Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... |
OMIM:601214 |
Thoracic Outlet Syndrome |
|
Varicose veins |
ORPHA:97330 |
Acromesomelic Dysplasia 3 |
|
Disproportionate short-limb short stature, Elevated circulating luteinizing hormone level, Hyperg... |
OMIM:609441 |
Varicose Veins |
|
Varicose veins |
OMIM:192200 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Elevated serum 11-deoxycortisol, Adrenogenital syndrome, Increased serum testosterone level, Decr... |
OMIM:202010 |
Meacham Syndrome |
|
Patent ductus arteriosus, Neonatal death, Ventricular septal defect, Cardiac total anomalous pulm... |
OMIM:608978 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Venous varicosities of celiac and mesenteric vessels, Dilatation of mesenteric artery, Palate tel... |
OMIM:610655 |
Milroy Disease |
|
Abnormal venous morphology, Varicose veins |
ORPHA:79452 |
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 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Premature ovarian insuffic... |
ORPHA:96179 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Anterior h... |
ORPHA:91351 |
Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... |
OMIM:241080 |
Heterotaxy, Visceral, 12, Autosomal |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven... |
OMIM:619702 |
Ovarian Fibroma |
|
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification |
ORPHA:314473 |
Non-Acquired Panhypopituitarism |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Short statu... |
ORPHA:90695 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Systolic heart murmur, Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, At... |
OMIM:617478 |
Marfanoid Habitus With Situs Inversus |
|
Aortic root aneurysm, Mitral valve prolapse, Aortic regurgitation, Situs inversus totalis, Persis... |
OMIM:609008 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Decreased circulating progesterone, Decreased serum estradiol, Secondary ame... |
ORPHA:572333 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease... |
ORPHA:95699 |
Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Severe postnatal growth retardation, Hydrocele testis, Anteriorly displace... |
OMIM:266810 |
Foix-Alajouanine Syndrome |
|
Distal lower limb amyotrophy, Lower limb muscle weakness, Myelopathy, Distal lower limb muscle we... |
ORPHA:79093 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
Liposarcoma |
|
Varicose veins |
ORPHA:69078 |
Mccune-Albright Syndrome |
|
Decreased fertility, Irregular menstruation, Macroorchidism, Precocious puberty, Increased circul... |
ORPHA:562 |
Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Hypoplasminogenemia |
|
Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis |
ORPHA:722 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc... |
OMIM:619167 |
Autosomal Dominant Spastic Paraplegia Type 10 |
|
Upper limb amyotrophy, Distal lower limb amyotrophy, Lower limb muscle weakness, Dupuytren contra... |
ORPHA:100991 |
46,Xy Sex Reversal 4 |
|
Sex reversal, Hypoplastic labia majora, Agonadism, Hypergonadotropic hypogonadism, Gonadal dysgen... |
OMIM:154230 |
Kaposi Sarcoma |
|
Venous insufficiency |
ORPHA:33276 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryp... |
ORPHA:1772 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Impotence, Decreased female libido, Euthyroid hyperthyroxinemia, Increa... |
ORPHA:91347 |
Thymic Carcinoma |
|
Abnormal vena cava morphology |
ORPHA:99868 |
Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Hepatic arteriovenous malformation, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad ... |
OMIM:187300 |
Renal Nutcracker Syndrome |
|
Dilatation of mesenteric artery, Vulval varicose vein, Syncope, Tachycardia, Renal artery stenosi... |
ORPHA:71273 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Absent scrotum, Ambiguous genitalia, Scrotal hypospadias, Elevated circulating 17-hydroxyprogeste... |
OMIM:201810 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Patent ductus arteriosus, Pulmonary arterial hypertension, Facial telang... |
OMIM:602782 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Lacunar stroke, Varicose veins, Stroke |
OMIM:125310 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Hypertrophic cardi... |
OMIM:618775 |
Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Atrial situs ambiguous, Anomalous pulmonary venous return, Situs i... |
ORPHA:244 |
Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Conotruncal defect, Bicuspid aortic valve, Abnormal aortic arch morphol... |
ORPHA:2306 |
Livedoid Vasculopathy |
|
Ischemic stroke, Abnormal capillary morphology, Hypertension, Venous insufficiency, Telangiectasi... |
ORPHA:542643 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Torticollis, Varicose veins |
OMIM:314300 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arrhythmia, Tetralogy of Fallot, Varicose veins |
OMIM:153400 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormal vena cava morphology, Ventricular septal defect, Heart murmur |
ORPHA:166035 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Varicose veins, Arrhythmia |
ORPHA:33001 |
Bardet-Biedl Syndrome 1 |
|
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Nephrogenic diabetes insipidus... |
OMIM:209900 |
Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Bilateral su... |
OMIM:605376 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Telangiectasia of the skin, Abnormal venous morphology, Abnormal cerebral vascular morphology |
ORPHA:276280 |
Clapo Syndrome |
|
Varicose veins, Venous malformation |
ORPHA:168984 |
Angioosteohypertrophic Syndrome |
|
Pulmonary embolism, Congestive heart failure, Venous insufficiency, Peripheral arteriovenous fist... |
ORPHA:2346 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Pulmonary artery dilatation, Pulmonary artery stenosis, Misalignme... |
OMIM:265380 |
Glomuvenous Malformation |
|
Arteriovenous malformation, Gastrointestinal arteriovenous malformation, Venous malformation |
ORPHA:83454 |
Lymphatic Malformation 7 |
|
Pericardial effusion, Varicose veins, Atrial septal defect |
OMIM:617300 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Spinal dysraphism, Venous malformation |
OMIM:612918 |
Limb-Mammary Syndrome |
|
Aplasia of the ovary, Absent nipple, Breast aplasia, Aplasia of the uterus, Primary amenorrhea, H... |
ORPHA:69085 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vaginal atresia, Parathyroid hypoplasia, Aplasia of the uterus, Diabetes mellitus, Hypoparathyroi... |
ORPHA:2237 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Vascular dilatation, Pulmonic stenosis, Camptodactyly, Aortic dissection, Varicose veins |
OMIM:618343 |
Menkes Disease |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Vascular dilatation, Abnormal carotid arter... |
ORPHA:565 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Patent ductus arteriosus, Pulmonary arterial hypertension, Secundum atrial septal defect, Cor tri... |
OMIM:612541 |
Thymic Neuroendocrine Tumor |
|
Abnormal vena cava morphology, Prominent veins on trunk |
ORPHA:97289 |
Loeys-Dietz Syndrome 3 |
|
Aortic tortuosity, Ventricular hypertrophy, Camptodactyly, Ascending aortic dissection, Thoracic ... |
OMIM:613795 |
Carney Complex |
|
Precocious puberty, Neoplasm of the pancreas, Oligospermia, Follicular thyroid carcinoma, Ovarian... |
ORPHA:1359 |
X-Linked Intellectual Disability, Nascimento Type |
|
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Pulmonary arterial... |
ORPHA:163956 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Ambiguous genitalia, Vesicovaginal fistula, Adrenal insufficiency, Decreased circulating renin le... |
OMIM:201750 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Short stature, Secondary ameno... |
ORPHA:99413 |
Turner Syndrome |
|
High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Short stature, Secondary ameno... |
ORPHA:881 |
Mosaic Monosomy X |
|
High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Short stature, Secondary ameno... |
ORPHA:99228 |
Monosomy X |
|
High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Short stature, Secondary ameno... |
ORPHA:99226 |
Proteus-Like Syndrome |
|
Venous insufficiency |
ORPHA:2969 |
Lumbar Syndrome |
|
Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Bifid uterus, Hypospadias, Cryptorc... |
ORPHA:83628 |
Exstrophy-Epispadias Complex |
|
Female sexual dysfunction, Absent penis, Bifid scrotum, Penoscrotal transposition, Male sexual dy... |
ORPHA:322 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Aortic root aneurysm, Carotid artery stenosis, Pericardial effusion, Mitral valve prolapse, Varic... |
ORPHA:536532 |
Hepatocellular Carcinoma |
|
Hypotension, Internal hemorrhage, Venous insufficiency, Portal hypertension, Budd-Chiari syndrome |
ORPHA:88673 |
Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Reduced sperm motility, Epididyma... |
OMIM:137920 |
22Q11.2 Deletion Syndrome |
|
Meningocele, Patent ductus arteriosus, Ventricular septal defect, Truncus arteriosus, Spina bifid... |
ORPHA:567 |
H Syndrome |
|
Abnormal cardiovascular system physiology, Camptodactyly, Varicose veins, Facial telangiectasia |
ORPHA:168569 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Meige Disease |
|
Varicose veins |
ORPHA:90186 |
Gitelman Syndrome |
|
Abnormal T-wave, Rhabdomyolysis, Pericardial effusion, Prominent U wave, Raynaud phenomenon, Low-... |
ORPHA:358 |
Lymphatic Malformation 6 |
|
Intestinal lymphangiectasia, Varicose veins, Atrial septal defect |
OMIM:616843 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... |
OMIM:300967 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Abnormal right ventricle morphology, Ventricular septal defect, Mitral valve prolapse, Camptodact... |
ORPHA:500095 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
Thauvin-Robinet-Faivre Syndrome |
|
Mitral valve prolapse, Varicose veins, Ventricular septal defect, Macroglossia |
OMIM:617107 |
Oeis Complex |
|
Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Ambiguous genitalia, male, La... |
OMIM:258040 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Mitral valve calcification, Pulmonary arterial hypertension, Bacterial endocarditis, Spontaneous,... |
ORPHA:2072 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Hemothorax, Descending aortic dissection, Mitral valve prolapse, Carotid cavernous fistula, Ascen... |
OMIM:130050 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Disproportionate short stature, Aplasia of the uterus, Cryptorchidism, Intra... |
ORPHA:2879 |
Chromosome 17Q12 Deletion Syndrome |
|
Unicornuate uterus, Short stature, Aplasia of the uterus, Urethral stenosis, Cryptorchidism, Ovar... |
OMIM:614527 |
Vascular Ehlers-Danlos Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Ascending tubular aorta aneurysm, Pulmonary... |
ORPHA:286 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Absent external genitalia, Aplasia of the vagina, Aplasia of the uterus |
OMIM:271520 |
Microphthalmia With Limb Anomalies |
|
Arrhinencephaly, Camptodactyly of 2nd-5th fingers, Venous insufficiency |
ORPHA:1106 |
Hypermobile Ehlers-Danlos Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Ascending tubular aorta aneurysm, Arterial ... |
ORPHA:285 |
Meckel Syndrome 14 |
|
Aplasia of the uterus, Ambiguous genitalia |
OMIM:619879 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
Fanconi Anemia, Complementation Group L |
|
Growth delay, Aplasia of the uterus, Micropenis, Intrauterine growth retardation |
OMIM:614083 |
Occipital Horn Syndrome |
|
Vascular dilatation, Venous insufficiency |
ORPHA:198 |
Pontocerebellar Hypoplasia Type 7 |
|
Ambiguous genitalia, Absent penis, Microphallus, Aplasia of the uterus, Gonadal dysgenesis, Abnor... |
ORPHA:284339 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple |
ORPHA:1521 |
Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Short stature, Aplasia of the uterus, Hypospadias, Severe postnatal growth re... |
OMIM:194190 |
Norrie Disease |
|
Uterine rupture, Erectile dysfunction, Diabetes mellitus, Delayed puberty, Cryptorchidism |
ORPHA:649 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina |
ORPHA:457284 |
Thrombocytopenia-Absent Radius Syndrome |
|
Pancreatic cysts, Aplasia of the uterus, Short stature |
OMIM:274000 |
46,Xx Sex Reversal 5 |
|
Urogenital sinus anomaly, Ambiguous genitalia, Increased serum testosterone level |
OMIM:618901 |
Coffin-Siris Syndrome 1 |
|
Short stature, Aplasia of the uterus, Hypospadias, Cryptorchidism, Intrauterine growth retardatio... |
OMIM:135900 |
Hydrolethalus Syndrome 1 |
|
Bifid uterus, Hypospadias, Adrenal gland dysgenesis, Intrauterine growth retardation, Abnormal va... |
OMIM:236680 |
Cardiac-Urogenital Syndrome |
|
Ambiguous genitalia, Bifid scrotum, Unilateral cryptorchidism, Aplasia of the uterus, Penoscrotal... |
OMIM:618280 |
Okamoto Syndrome |
|
Bifid uterus, Severe postnatal growth retardation |
ORPHA:2729 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Anteriorly displaced genitalia, Aplasia of the uterus, Hypospadias, Disproportionate short statur... |
OMIM:276820 |
Townes-Brocks Syndrome 1 |
|
Hypothyroidism, Bifid scrotum, Rectoperineal fistula, Bifid uterus, Hypospadias, Cryptorchidism, ... |
OMIM:107480 |
Neu-Laxova Syndrome 1 |
|
Bifid uterus, Intrauterine growth retardation, Cryptorchidism |
OMIM:256520 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Pallister-Killian Syndrome |
|
Mesomelic/rhizomelic limb shortening, Rhizomelia, Labial hypoplasia, Aplasia of the upper vagina,... |
OMIM:601803 |