Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature |
|
Intrauterine growth retardation, Short stature |
OMIM:135950 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperleucinemia, Hyperisoleucinemia |
OMIM:620085 |
Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hypergonadotropic h... |
OMIM:617872 |
46,Xy Sex Reversal 4 |
|
Agonadism, Hypoplasia of the uterus, Increased blood urea nitrogen, Hypoplastic labia majora, Hyp... |
OMIM:154230 |
Testicular Regression Syndrome |
|
Decreased testicular size, Absent testis, Agonadism, Abnormal morphology of female internal genit... |
ORPHA:983 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:614817 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Ambiguous genitalia, Clitoral hypertrophy, Exaggerated rugosity of the l... |
OMIM:612965 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... |
ORPHA:2138 |
Burkitt Lymphoma |
|
Abnormality of the ovary, Abnormal lymph node morphology, Hyperuricemia, Abnormality of the spleen |
ORPHA:543 |
46,Xy Sex Reversal 11 |
|
Gonadal dysgenesis with female appearance, male, Urogenital sinus anomaly, Abnormal internal geni... |
OMIM:273250 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Leydig Cell Hypoplasia |
|
Cryptorchidism, Micropenis, Ambiguous genitalia, Abnormal vas deferens morphology, Abnormal inter... |
ORPHA:755 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Hyperuricemia, Increased blood urea nitrogen, Hypomagnesemia |
OMIM:613845 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612926 |
46,Xy Sex Reversal 7 |
|
Dysgerminoma, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... |
OMIM:233420 |
Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Cryptorchidism, Abnormal morphology of female internal ... |
ORPHA:754 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612925 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadal dysgenesis with female appearance, male, Gonadoblastoma, Testicular dysgenesis, Hypoplasi... |
ORPHA:168563 |
Diethylstilbestrol Syndrome |
|
Cryptorchidism, Micropenis, Abnormality of the uterus, Abnormal testis morphology, Testicular dys... |
ORPHA:1916 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen |
ORPHA:94059 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Complete Androgen Insensitivity Syndrome |
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Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female internal genitalia, Femal... |
ORPHA:99429 |
Partial Androgen Insensitivity Syndrome |
|
Perineal hypospadias, Micropenis, Ambiguous genitalia, Fused labia majora, Clitoral hypertrophy, ... |
ORPHA:90797 |
Testicular Agenesis |
|
Absent testis, Micropenis, Urethrovaginal fistula, Ambiguous genitalia, Urogenital sinus anomaly,... |
ORPHA:325124 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Absent tonsils, Aplasia of the thymus, Genital ulcers, Lymph node hy... |
OMIM:602450 |
Orthostatic Hypotension 1 |
|
Increased blood urea nitrogen, Hypomagnesemia |
OMIM:223360 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:300510 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:235400 |
Premature Ovarian Failure 7 |
|
Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis |
OMIM:612964 |
46,Xx Sex Reversal 2 |
|
Perineal hypospadias, Micropenis, Hypoplasia of the vagina, Hypoplasia of the uterus, Azoospermia... |
OMIM:278850 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:274150 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, Hypoplasia of the... |
OMIM:614841 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Cockayne Syndrome Type 1 |
|
Male hypogonadism, Cryptorchidism, Increased blood urea nitrogen |
ORPHA:90321 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
Igg4-Related Retroperitoneal Fibrosis |
|
Increased blood urea nitrogen, Varicocele, Elevated circulating C-reactive protein concentration,... |
ORPHA:49041 |
Purine Nucleoside Phosphorylase Deficiency |
|
Increased circulating inosine concentration, Increased circulating guanosine concentration, Hypou... |
OMIM:613179 |
Dopamine Beta-Hydroxylase Deficiency |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
ORPHA:230 |
Vaginal Atresia |
|
Uterus didelphys, Cervicitis, Imperforate hymen, Transverse vaginal septum, Vaginal atresia, Abno... |
ORPHA:65681 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:223900 |
Perrault Syndrome 6 |
|
Streak ovary, Hypoplasia of the uterus |
OMIM:617565 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Hypoplasia of the uterus, Azoospermia, Hyp... |
OMIM:614837 |
Perrault Syndrome 3 |
|
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:614129 |
Renal And Mullerian Duct Hypoplasia |
|
Anteriorly displaced urethral meatus, Aplasia of the uterus, Hydrocele testis |
OMIM:266810 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Micropenis, Ambiguous genitalia, male, Precocious puberty in females, Female external genitalia i... |
ORPHA:90793 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased testicular size, Cryptorchidism, Abnormality of the Leydig cells, Increased circulating... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased testicular size, Cryptorchidism, Abnormality of the Leydig cells, Increased circulating... |
ORPHA:289548 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
Premature Ovarian Failure 6 |
|
Streak ovary, Hypoplasia of the uterus |
OMIM:612310 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus |
OMIM:619203 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Decreased testicular size, Hypoplasia of the vagina, Clitoral hypertrophy, Hypoplasia of the uter... |
OMIM:202010 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus |
OMIM:619665 |
Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
Lumbar Syndrome |
|
Cryptorchidism, Micropenis, Ambiguous genitalia, Hypoplastic labia majora, Bifid uterus, Bifid sc... |
ORPHA:83628 |
Satoyoshi Syndrome |
|
Abnormality of the ovary, Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the u... |
ORPHA:3130 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Satoyoshi Syndrome |
|
Mildly elevated creatine kinase, Hypoplasia of the uterus |
OMIM:600705 |
Amed Syndrome, Digenic |
|
Bone marrow hypocellularity, Hypoplasia of the uterus |
OMIM:619151 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymph node hypoplasia, Absent tonsils |
ORPHA:276 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemic seizures, Septate vagina, Vaginal atresia, Hypocalcemia, Uterus didelphys, Aplasia o... |
ORPHA:2237 |
Perrault Syndrome 4 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:615300 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus |
ORPHA:247768 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys |
OMIM:146255 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, Hypoplasia of the... |
ORPHA:432 |
Townes-Brocks Syndrome 2 |
|
Bifid uterus, Rectovaginal fistula, Hypospadias |
OMIM:617466 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Testicular adrenal rest tumor, Decreased testicular size, Hypochloremia, Ambiguous genitalia, Fus... |
ORPHA:90794 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased testicular size, Cryptorchidism, Micropenis, Hypoplasia of the vagina, Ambiguous genita... |
ORPHA:90796 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
Oeis Complex |
|
Absent scrotum, Cryptorchidism, Micropenis, Ambiguous genitalia, male, Epispadias, Labial hypopla... |
OMIM:258040 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... |
ORPHA:447 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Estrogen Resistance |
|
Polycystic ovaries, Hypoplasia of the uterus |
OMIM:615363 |
Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia, Prostatitis, Epididymitis |
OMIM:300755 |
Popliteal Pterygium Syndrome |
|
Cryptorchidism, Hypoplasia of the uterus, Hypoplastic labia majora, Small scrotum, Bifid scrotum,... |
OMIM:119500 |
Meckel Syndrome 12 |
|
Vaginal atresia, Hypoplasia of the uterus |
OMIM:616258 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Vaginal atresia, Hypoplasia of the uterus |
OMIM:617914 |
Renal Cysts And Diabetes Syndrome |
|
Hyperuricemia, Hypoplasia of the uterus, Epididymal cyst, Elevated circulating creatinine concent... |
OMIM:137920 |
Woodhouse-Sakati Syndrome |
|
Decreased testicular size, Micropenis, Hypoplasia of the fallopian tube, Hypoplasia of the uterus... |
OMIM:241080 |
Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Hypoplastic spleen, Multilobulated spleen, Hypoplasia of the uterus, Bicornuate u... |
OMIM:601186 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Absent external genitalia, Aplasia of the uterus |
OMIM:271520 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus |
OMIM:619879 |
Pontocerebellar Hypoplasia Type 7 |
|
Cryptorchidism, Micropenis, Ambiguous genitalia, Microphallus, Clitoral hypertrophy, Abnormal scr... |
ORPHA:284339 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
Woodhouse-Sakati Syndrome |
|
Decreased testicular size, Micropenis, Hypogonadism, Hypoplasia of the fallopian tube, Hypoplasia... |
ORPHA:3464 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Hypoplasia of the uterus |
ORPHA:785 |
Fanconi Anemia, Complementation Group L |
|
Bone marrow hypocellularity, Micropenis, Aplasia of the uterus |
OMIM:614083 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Hypoplasia of the uterus, Hypoplastic labia majora, Clitoral hypoplasia, Accessory spleen, Gonada... |
OMIM:618419 |
Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Unicornuate uterus, Aplasia of the vagina, Aplasia of the uterus |
OMIM:614527 |
Cardiac-Urogenital Syndrome |
|
Cryptorchidism, Penoscrotal hypospadias, Micropenis, Ambiguous genitalia, Accessory spleen, Bifid... |
OMIM:618280 |
Goodpasture Syndrome |
|
Increased blood urea nitrogen |
OMIM:233450 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Bifid uterus, Abnormal reproductive system morphology |
ORPHA:1521 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Micropenis, Clitoral hypertrophy, Hypoplasia of the uterus, Ovotestis, Chordee, Hypospadias |
OMIM:309801 |
Thrombocytopenia-Absent Radius Syndrome |
|
Hepatosplenomegaly, Aplasia of the uterus |
OMIM:274000 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Cryptorchidism, Micropenis, Ambiguous genitalia, Fused labia majora, Polycystic ovaries, Clitoral... |
OMIM:201750 |
Exstrophy-Epispadias Complex |
|
Cryptorchidism, Bifid penis, Penoscrotal transposition, Epispadias, Absent penis, Bifid uterus, C... |
ORPHA:322 |
Limb-Mammary Syndrome |
|
Aplasia of the ovary, Aplasia of the uterus |
ORPHA:69085 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Bifid uterus, Abnormal vagina morphology, Hypospadias |
OMIM:236680 |
Wolf-Hirschhorn Syndrome |
|
Cryptorchidism, Aplasia of the uterus, Precocious puberty, Accessory spleen, Hypospadias |
OMIM:194190 |
Okamoto Syndrome |
|
Bifid uterus, Splenomegaly |
ORPHA:2729 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cervical insufficiency, Cryptorchidism, Uterine rupture, Cystocele, Uterine prolapse |
OMIM:130050 |
Coffin-Siris Syndrome 1 |
|
Clitoral hypertrophy, Cryptorchidism, Hypospadias, Aplasia of the uterus |
OMIM:135900 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Small scrotum, Hypospadias |
OMIM:276820 |
Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism |
OMIM:256520 |
Townes-Brocks Syndrome 1 |
|
Rectoperineal fistula, Cryptorchidism, Bifid uterus, Bifid scrotum, Rectovaginal fistula, Hypospa... |
OMIM:107480 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Polycystic ovaries, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
ORPHA:572333 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Vascular Ehlers-Danlos Syndrome |
|
Cryptorchidism, Hypokalemia, Uterine rupture, Cystocele, Uterine prolapse, Hypospadias |
ORPHA:286 |
Norrie Disease |
|
Cryptorchidism, Uterine rupture |
ORPHA:649 |
Pallister-Killian Syndrome |
|
Cryptorchidism, Labial hypoplasia, Hypoplastic labia majora, Small scrotum, Hypospadias, Aplasia ... |
OMIM:601803 |